{"question":{"5717dbfe7de986d80d000001_018":"What is the functional role of the protein Drp1?","5891f9e549702f2e01000002_031":"Willis-Ekbom disease is also known as?","514a0a57d24251bc05000051_006":"Which drug should be used as an antidote in benzodiazepine overdose?","5324bdba9b2d7acc7e00001a_005":"How is bladder wall thickness measured?","58e9e7aa3e8b6dc87c00000d_005":"Which is the major RNA editing enzyme in Drosophila melanogaster?","587f795d92a5b8ad44000007_001":"What is formin associated with in the snail?","54e0d1491388e8454a000014_002":"Which enzyme is targeted by Evolocumab?","5545186cbf90a13052000002_023":"Which gene strand is targeted by transcription-coupled repair (TCR)?","56c077e9ef6e394741000021_001":"Name monoclonal antibody against SLAMF7.","54db62a3034aea571d000001_011":"Which is the main calcium pump of the sarcoplasmic reticulum?","5880b073c872c95565000003_034":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5a68f005b750ff4455000016_012":"Which personality disorder is treated using dialectical behavior therapy?","51585b28d24251bc0500008d_013":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5891f9e549702f2e01000002_033":"Willis-Ekbom disease is also known as?","5ace238e0340b9f05800000d_021":"Which human chromosome is the product of fusion?","58d8e6818acda3452900000a_048":"Which gene mutations cause the Marfan syndrome?","587e1bfdfc7e8dd84f000002_003":"Which is the genome browser database for DNA shape annotations?","56e6ec49edfc094c1f000005_002":"Which is the target of the drug Denosumab?","58e7902b3e8b6dc87c000007_005":"Which is the most common gene signature in Rheumatoid Arthritis patients?","5ace12be0340b9f058000007_015":"Which gene is responsible for proper speech development?","56cb9b065795f9a73e000032_002":"Which kinase is inhibited by Tripolin A?","5324a8ac9b2d7acc7e000018_020":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","53357193d6d3ac6a34000047_015":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","58adc1ff9ef3c34033000006_010":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","589a247078275d0c4a000035_008":"Dinutuximab is used for treatment of which disease?","52bf1d9e03868f1b06000010_001":"To the ligand of which receptors does Denosumab (Prolia) bind?","5ace19420340b9f05800000a_022":"Which gene is responsible for red hair?","5506ce078e1671127b00000b_001":"Which protein phosphatase has been found to interact with the heat shock protein, HSP20?","55032efde9bde69634000035_005":"Which receptor is targeted by telcagepant?","572096c90fd6f91b6800000e_010":"Which gene is involved in Giant Axonal Neuropathy?","589a247078275d0c4a000035_011":"Dinutuximab is used for treatment of which disease?","589185cc621ea6ff7e00000b_019":"Which disease is treated with Nusinersen?","58861d413b87a8a738000002_002":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","52bf1d9e03868f1b06000010_004":"To the ligand of which receptors does Denosumab (Prolia) bind?","5880a8ec0a76a87357000001_006":"Which R package is used for the detection of chromosomal abnormalities from microarray data?","52fa6ac72059c6d71c000055_006":"Is the transcriptional regulator BACH1 an activator or a repressor?","5ab1483bfcf4565872000014_002":"The common house cat, Felis silvestris catus and the domestic dog, Canis familiaris both belong to what taxonomic order?","5a9dad764e03427e73000007_002":"What is the preDIVA clinical trial?","55180ef46487737b43000006_024":"What is the typical rash associated with gluten ?","52b2e409f828ad283c00000e_002":"What disease in Loxapine prominently used for?","589635dd78275d0c4a000009_004":"Which tool is used for the identification of recurrent variants in noncoding regions?","58cdb41302b8c60953000042_001":"What tissue is most affected in Ehlers-Danlos syndromes?","5324a8ac9b2d7acc7e000018_055":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58a57f9460087bc10a00001f_005":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","554148c23f2354b713000001_006":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","5a6a3464b750ff4455000026_002":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","5895bc397d9090f35300000b_015":"Mutation of which gene is implicated in the Christianson syndrome?","530cf4fe960c95ad0c00000b_001":"Which type of lung cancer is afatinib used for?","5519113b622b19434500000f_027":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5505a587f73303d458000005_008":"What does mTOR stands for?","5325fdf0600967d132000001_002":"What is the gold standard treatment for Iatrogenic male incontinence?","52fa6ac72059c6d71c000055_009":"Is the transcriptional regulator BACH1 an activator or a repressor?","5ac725250340b9f058000006_007":"Which miRNA is associated with the circular RNA ciRS-7?","58d8e6818acda3452900000a_042":"Which gene mutations cause the Marfan syndrome?","5880aef4c872c95565000001_008":"What is the target of daratumumab?","58ee0dd5eda5a57672000013_003":"From which cell type is leptin secreted?","56cdf5195795f9a73e000045_007":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","530cf4e0c8a0b4a00c000006_001":"Which is the most common cause of sudden cardiac death in young athletes?","54f9c40ddd3fc62544000001_015":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","51585b28d24251bc0500008d_022":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","56c3184050c68dd416000003_006":"What is the indication for isradipine?","56c048acef6e39474100001c_025":"Which enzyme is inhibited by Imetelstat?","54f89e1a06d9727f76000001_003":"Which kinase is inhibited by the small molecule KN-93?","58a57f9460087bc10a00001f_033":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a774fdcfaa1ab7d2e000008_017":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","530f900ee3eabad021000003_011":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","551c23bc6b348bb82c00000b_011":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","56ae6e650a360a5e4500000e_007":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","536e46f27d100faa09000012_002":"Which is the gene most commonly mutated in Tay-Sachs disease?","5545186cbf90a13052000002_003":"Which gene strand is targeted by transcription-coupled repair (TCR)?","56c048acef6e39474100001c_005":"Which enzyme is inhibited by Imetelstat?","571f5c150fd6f91b68000009_015":"Which protein is found to be mutated in Friedreich's ataxia?","56c1f02cef6e39474100004c_006":"GV1001 vaccine targets which enzyme?","55192892622b194345000012_005":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","5a9d31711d1251d03b00001c_001":"What is the approximate size of gas vesicles?","5880b073c872c95565000003_009":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5891b125621ea6ff7e00000e_009":"Which disease is treated with taliglucerase alfa?","55200c606b348bb82c000013_001":"Which clotting factor is inhibited by betrixaban?","58cd90c202b8c60953000040_001":"What is the role of IL-18BP?","58a6db8660087bc10a00002c_013":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5891f9e549702f2e01000002_035":"Willis-Ekbom disease is also known as?","5895bc397d9090f35300000b_010":"Mutation of which gene is implicated in the Christianson syndrome?","58a6db8660087bc10a00002c_016":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5147c088d24251bc05000026_007":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","58cbb98c02b8c60953000034_030":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","51585b28d24251bc0500008d_016":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","58cbb98c02b8c60953000034_045":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56d1f790f22319765a000001_006":"Which gene harbors the mutation T790M?","58a32edd60087bc10a000012_008":"What is Contrave prescribed for?","550ea8f1b305b40c5c000005_004":"Pridopidine has been tested for treatment of which disorder?","56c1f020ef6e394741000047_001":"Which disorder is rated by Palmini classification?","56d1f790f22319765a000001_016":"Which gene harbors the mutation T790M?","5a7877c0faa1ab7d2e00000c_007":"What is the first line treatment for sarcoidosis?","58a8903b38c171fb5b000006_001":"What is the effect of nocodazole cell treatment?","56bc77a3ac7ad10019000015_028":"RTS S AS01 vaccine was developed to prevent which disease?","56ed0ffe2ac5ed1459000008_001":"Which type of myeloma is ixazomib being evaluated for?","5a68f448b750ff4455000018_008":"Which bacteria causes erythrasma?","55032efde9bde69634000035_019":"Which receptor is targeted by telcagepant?","5ace238e0340b9f05800000d_002":"Which human chromosome is the product of fusion?","531464a6e3eabad021000014_045":"Mutation of which gene is associated with McLeod syndrome?","5717dbfe7de986d80d000001_022":"What is the functional role of the protein Drp1?","533be71dfd9a95ea0d000009_011":"Which is the histone residue methylated by MLL1?","56bc77a3ac7ad10019000015_029":"RTS S AS01 vaccine was developed to prevent which disease?","53440d2caeec6fbd07000004_003":"Is the long non- coding RNA malat-1 up or downregulated in cancer?","5a6d196db750ff4455000032_003":"Which resource has been developed in order to study the transcriptional regulation of GABAergic cell fate?","58b6978822d300530900000a_004":"Which disease the London mutation involved in?","5a8b1264fcd1d6a10c00001d_007":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","587f760792a5b8ad44000005_001":"Which peak calling algorithm employs mixture model clustering under the hood?","58cbb98c02b8c60953000034_053":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","589a246078275d0c4a00002a_014":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5a4e50b242878bf97d000001_013":"Which topoisomerase is essential in yeast?","55054f8af73303d458000002_014":"Which bone protein is used in archaelogy for dating and species identification?","5ace12be0340b9f058000007_003":"Which gene is responsible for proper speech development?","54db62a3034aea571d000001_009":"Which is the main calcium pump of the sarcoplasmic reticulum?","589a247078275d0c4a000035_023":"Dinutuximab is used for treatment of which disease?","5895bc397d9090f35300000b_014":"Mutation of which gene is implicated in the Christianson syndrome?","56c1f00def6e39474100003f_002":"Which enzyme is inhibited by Varespladib?","5313058de3eabad02100000e_003":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","51387022bee46bd34c000002_003":"Which is the process that Conserved noncoding elements mostly regulate?","5343fc1aaeec6fbd07000003_040":"Which is the gene mutated in type 1 neurofibromatosis?","5890e163621ea6ff7e000004_010":"What is the target of tanezumab?","530f900ee3eabad021000003_003":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","550e828c71445a662f000002_013":"Which molecule is targeted by the drug Gevokizumab?","533ea8fcc45e133714000010_016":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","58861d413b87a8a738000002_009":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5353aedb288f4dae47000006_026":"Which is the transcript responsible for X-chromosome inactivation?","58eb99f3eda5a57672000009_006":"Do origins of replication close to yeast centromeres fire early or late?","58a644e560087bc10a000027_001":"What is the drug target for Simtuzumab?","587e2300fc7e8dd84f000004_002":"Which R package could be used for the identification of pediatric brain tumors?","5a871a6861bb38fb24000009_007":"What disease is the ALK tyrosine kinase associated with?","5a67b2f7b750ff445500000f_002":"Which type of urinary incontinence is diagnosed with the Q tip test?","56bc77a3ac7ad10019000015_004":"RTS S AS01 vaccine was developed to prevent which disease?","56b7083376d8bf8d13000001_003":"What is the causative agent of the \"Panama disease\" affecting bananas?","56c1d856ef6e394741000032_005":"Which pathway is activated by ficolin-3?","531464a6e3eabad021000014_003":"Mutation of which gene is associated with McLeod syndrome?","571e12097de986d80d000017_002":"Which protein does empagliflozin inhibit?","51588bb2d24251bc05000091_001":"Which antiepileptic drug is most strongly associated with spina bifida? ","51631154298dcd4e5100004e_009":"What disease is Velcade (bortezomib) mainly used for?","5880dba9c872c95565000009_006":"Which enzyme is inhibited by ribociclib?","58a32efe60087bc10a000013_071":"What is MRSA?","58eb9542eda5a57672000007_032":"Which protein is the main marker of Cajal bodies?","5ace19420340b9f05800000a_013":"Which gene is responsible for red hair?","5ad6e431133db5eb7800000e_004":"Which test is used for the definition of colour-blindness?","5a7877c0faa1ab7d2e00000c_010":"What is the first line treatment for sarcoidosis?","58cbb98c02b8c60953000034_034":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","54e0c3e71388e8454a000013_010":"Which enzyme is inhibited by Orteronel?","5708a845cf1c32585100000f_001":"Which signaling pathway is activating the dishevelled proteins?","56d138fe3975bb303a000015_001":"Which trancription factor activates the betalain pathway?","516e7fda298dcd4e51000081_002":"Which is the methyl donor of histone methyltransferases?","54cb9c94f693c3b16b000005_018":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","56e0447a51531f7e3300000b_006":"Which are the smallest known subviral pathogens of plants?","53357193d6d3ac6a34000047_024":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","530f900ee3eabad021000003_018":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","56c04412ef6e39474100001b_018":"Which molecule is targeted by Daratumumab?","589a247078275d0c4a000035_001":"Dinutuximab is used for treatment of which disease?","55032efde9bde69634000035_002":"Which receptor is targeted by telcagepant?","589a246078275d0c4a00002a_025":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","511a3573df1ebcce7d000018_008":"How many tissue kallikrein genes are present in the human genome?","589185cc621ea6ff7e00000b_013":"Which disease is treated with Nusinersen?","56f564f909dd18d46b000009_009":"Which syndrome is associated with mutations in the LYST gene?","5a79d0b8faa1ab7d2e00000d_007":"What cellular process are okazaki fragments associated with?","52f89fc62059c6d71c000050_001":"From which tissue was the NCI-H520 cell-line derived?","517170c48ed59a060a00000d_001":"How many selenoproteins are encoded in the human genome?","5519113b622b19434500000f_013":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","589185cc621ea6ff7e00000b_010":"Which disease is treated with Nusinersen?","5a804f71faa1ab7d2e00001d_002":"Which algorithm is used for detection of long repeat expansions?","5a6d1733b750ff4455000030_001":"Which resource contains accurate enhancer predictions in the developing limb?","56bc7d71ac7ad10019000018_007":"Which disease can be treated with Delamanid?","5710e131a5ed216440000001_016":"In which yeast chromosome does the rDNA cluster reside?","5a7237672dc08e987e000008_011":"Which drug can be reversed with idarucizumab?","5a896c26fcd1d6a10c000007_011":"In which syndrome is the RPS19 gene most frequently mutated?","5884c72fe56acf517600000f_002":"What molecule is targeted by Avelumab?","56c048acef6e39474100001c_003":"Which enzyme is inhibited by Imetelstat?","5880b812c872c95565000006_010":"Which infection can be prevented with Dapivirine?","54db62a3034aea571d000001_002":"Which is the main calcium pump of the sarcoplasmic reticulum?","5ace238e0340b9f05800000d_011":"Which human chromosome is the product of fusion?","571f33bd0fd6f91b68000003_005":"Which gene is responsible for the development of Sotos syndrome?","5717d64f29809bbe7a000001_004":"Which is the cellular localization of the protein Opa1?","587e2300fc7e8dd84f000004_007":"Which R package could be used for the identification of pediatric brain tumors?","56c1f020ef6e394741000047_005":"Which disorder is rated by Palmini classification?","551fd9c06b348bb82c000012_018":"ROSIER scale is used for which disorder?","56d85e7751531f7e33000001_001":"Which SLC family is FLVCR1 a member of?","5118dd1305c10fae75000001_004":"Is Rheumatoid Arthritis more common in men or women?","587e0116ae05ffb474000002_004":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","52bf1b0a03868f1b06000009_002":"What is the mode of inheritance of Wilson's disease?","5a761ac3aacfb9cd4c000002_008":"What is the most common feature of the Doege\u2013Potter syndrome?","5a6e3155b750ff445500003f_002":"Which R\/Bioconductor package has been developed for cancer subtype identification?","550f0e4c6a8cde6b72000003_030":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","52fe52702059c6d71c000078_001":"Where is the histone variant CENPA preferentially localized?","5a679e8cb750ff4455000006_010":"Milwaukee protocol was tested for treatment of which disease?","5147c088d24251bc05000026_006":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","54d8fd334b1fd0d33c000005_001":"Rindopepimut is an analog of which growth factor?","58adc1ff9ef3c34033000006_008":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","530cefaaad0bf1360c000012_022":"Which deficiency is the cause of restless leg syndrome?","571e2beabb137a4b0c000006_003":"How is OCT3 associated with serotonin?","5a896c26fcd1d6a10c000007_005":"In which syndrome is the RPS19 gene most frequently mutated?","5547a01cf35db75526000005_008":"In which kingdom do microsporidia belong, according to their current classification scheme?","5a6a3335b750ff4455000025_005":"Which algorithm is available for computing minimal absent words using external memory?","54f35ad864850a5854000004_005":"LY450139 is investigational name of which drug?","54f9c40ddd3fc62544000001_002":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","589a246078275d0c4a00002a_041":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","550f0e4c6a8cde6b72000003_039":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5a774fdcfaa1ab7d2e000008_003":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","56cdf5195795f9a73e000045_003":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","58a32edd60087bc10a000012_006":"What is Contrave prescribed for?","52bf1f1303868f1b06000014_008":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","58bca2f302b8c6095300000c_013":"What chromosome is affected in Turner's syndrome?","58eb9542eda5a57672000007_016":"Which protein is the main marker of Cajal bodies?","56c04412ef6e39474100001b_020":"Which molecule is targeted by Daratumumab?","552fac4fbc4f83e828000006_005":"Which fusion protein is involved in the development of Ewing sarcoma?","5a6d08d5b750ff445500002c_002":"Which stapled peptide has been designed to target Ctf4?","56ecfd572ac5ed1459000002_009":"How is oprozomib administered?","58a6db8660087bc10a00002c_008":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5891b125621ea6ff7e00000e_011":"Which disease is treated with taliglucerase alfa?","58cbb98c02b8c60953000034_036":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","54e0d1491388e8454a000014_010":"Which enzyme is targeted by Evolocumab?","56c1f009ef6e39474100003c_001":"Which disease is treated with Eliglustat?","56ae6e650a360a5e4500000e_003":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","58bfd8e902b8c60953000018_004":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5a76179d83b0d9ea66000021_003":"Which algorithm has been proposed for efficient storage of WGS variant calls?","532dcfc9d6d3ac6a34000021_003":"What is the characteristic domain of histone methyltransferases?","5a735b383b9d13c708000002_001":"What is the name of the RNAi investigational drug being developed against hereditary amyloidosis?","58eb9542eda5a57672000007_009":"Which protein is the main marker of Cajal bodies?","5a690487b750ff445500001f_006":"Which virus can be diagnosed with the monospot test?","5891f9e549702f2e01000002_013":"Willis-Ekbom disease is also known as?","5a774fdcfaa1ab7d2e000008_002":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5a6e42f1b750ff4455000046_002":"What gene is mutated in Familial Mediterranean Fever?","5710e131a5ed216440000001_013":"In which yeast chromosome does the rDNA cluster reside?","589a246078275d0c4a00002a_008":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","58d8e6818acda3452900000a_028":"Which gene mutations cause the Marfan syndrome?","5891f9e549702f2e01000002_029":"Willis-Ekbom disease is also known as?","5a679e8cb750ff4455000006_012":"Milwaukee protocol was tested for treatment of which disease?","532dcfc9d6d3ac6a34000021_019":"What is the characteristic domain of histone methyltransferases?","54f9cb34dd3fc62544000002_004":"Which protein has been found to interact with phospholamban (PLN) and is also an anti-apoptotic protein?","55421ee7ccca0ce74b000002_044":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","589185cc621ea6ff7e00000b_004":"Which disease is treated with Nusinersen?","52bf1d9e03868f1b06000010_010":"To the ligand of which receptors does Denosumab (Prolia) bind?","52f21b722059c6d71c00000b_001":"What is the usual HER-2 status in breast cancer associated with Li-Fraumeni syndrome?","56cdf5195795f9a73e000045_004":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","58a5a51060087bc10a000021_012":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","58861d413b87a8a738000002_020":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","52e62bae98d0239505000015_001":"What is the life expectancy of professional athletes in respect to the general population?","56b330bb39c782df06000001_001":"Which R\/bioconductor package is used for integrative genomics visualizations?","58d8e6818acda3452900000a_052":"Which gene mutations cause the Marfan syndrome?","5a6f960fb750ff445500005c_004":"Centor criteria are used for which disease?","58a57f9460087bc10a00001f_035":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","51635202298dcd4e5100004f_003":"How is myotonic dystrophy inherited?","530cefaaad0bf1360c00000d_009":"Which hormone abnormalities are common in Williams syndrome ?","551fd9c06b348bb82c000012_001":"ROSIER scale is used for which disorder?","5a79d0b8faa1ab7d2e00000d_001":"What cellular process are okazaki fragments associated with?","5343fc1aaeec6fbd07000003_035":"Which is the gene mutated in type 1 neurofibromatosis?","516be1d6298dcd4e5100006a_001":"What is the mode of inheritance of nemaline myopathy?","5880aef4c872c95565000001_022":"What is the target of daratumumab?","530f900ee3eabad021000003_007":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","56ecfd572ac5ed1459000002_006":"How is oprozomib administered?","5353aedb288f4dae47000006_024":"Which is the transcript responsible for X-chromosome inactivation?","532366f09b2d7acc7e000015_004":"Which amino acid residue appears mutated in most of the cases reported with  cadasil syndrome?","55242d512c8b63434a000006_032":"Which receptors can be evaluated with the [18F]altanserin?","58cbb98c02b8c60953000034_065":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a6e3155b750ff445500003f_001":"Which R\/Bioconductor package has been developed for cancer subtype identification?","52f21b722059c6d71c00000b_003":"What is the usual HER-2 status in breast cancer associated with Li-Fraumeni syndrome?","54f1e031c409818c32000001_005":"DX-88 is investigational name of which drug?","58a6db8660087bc10a00002c_005":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5343fc1aaeec6fbd07000003_018":"Which is the gene mutated in type 1 neurofibromatosis?","58a2e5f760087bc10a000007_018":"Which is the primary protein component of Lewy bodies?","58a6db8660087bc10a00002c_012":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5710e131a5ed216440000001_011":"In which yeast chromosome does the rDNA cluster reside?","5891f9e549702f2e01000002_040":"Willis-Ekbom disease is also known as?","5a9d8a651d1251d03b00001f_001":"What is the BioArchive system?","5ace19420340b9f05800000a_008":"Which gene is responsible for red hair?","58ee0dd5eda5a57672000013_001":"From which cell type is leptin secreted?","56bc751eac7ad10019000013_001":"Name synonym of Acrokeratosis paraneoplastica.","551fd9c06b348bb82c000012_003":"ROSIER scale is used for which disorder?","5aacd487fcf4565872000007_001":"Which human gene encode for DNA polymerase \u03b8?","589a246078275d0c4a00002a_023":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5506c3e38e1671127b00000a_020":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a74e9ad0384be955100000a_003":"What is a SERM?","5545186cbf90a13052000002_011":"Which gene strand is targeted by transcription-coupled repair (TCR)?","5171438a8ed59a060a000007_012":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","589630f378275d0c4a000007_010":"Which enzyme is inhibited by ixazomib?","58d8e6818acda3452900000a_022":"Which gene mutations cause the Marfan syndrome?","5ace37d50340b9f058000011_001":"Which is the main reason for the increase in the incidence of cryptococcal disease?","5880aef4c872c95565000001_009":"What is the target of daratumumab?","5a6e354fb750ff4455000042_001":"Which R\/bioconductor package has been developed to aid in epigenomic analysis?","52bf1d9e03868f1b06000010_007":"To the ligand of which receptors does Denosumab (Prolia) bind?","58cbb98c02b8c60953000034_054":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","55242d512c8b63434a000006_030":"Which receptors can be evaluated with the [18F]altanserin?","5880aef4c872c95565000001_030":"What is the target of daratumumab?","58f4b9d470f9fc6f0f000016_010":"What organism causes tularemia?","5710e131a5ed216440000001_014":"In which yeast chromosome does the rDNA cluster reside?","5ace19420340b9f05800000a_040":"Which gene is responsible for red hair?","56ed03862ac5ed1459000004_018":"Which enzyme does MLN4924 inhibit?","54f1e031c409818c32000001_009":"DX-88 is investigational name of which drug?","5a86f074faa1ab7d2e00003a_001":"With which cancers has the loss of SMARCB1 been associated?","5148691bd24251bc0500002d_003":"Which protein is affected by dusp8 activation?","571f33bd0fd6f91b68000003_003":"Which gene is responsible for the development of Sotos syndrome?","58cbb98c02b8c60953000034_010":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5891b125621ea6ff7e00000e_013":"Which disease is treated with taliglucerase alfa?","589a247078275d0c4a000035_022":"Dinutuximab is used for treatment of which disease?","5a6f853ab750ff4455000055_002":"Which disease can be diagnosed with the \"probe to bone\" test?","58dfd70c6fddd3e83e000002_001":"What is the results of inactivated ANGPLT3?","571e275dbb137a4b0c000005_002":"What are 'vildagliptin', 'sitagliptin', 'saxagliptin', 'alogliptin', 'linagliptin', and 'dutogliptin'?","5547a01cf35db75526000005_021":"In which kingdom do microsporidia belong, according to their current classification scheme?","550f0e4c6a8cde6b72000003_036":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5a8b1264fcd1d6a10c00001d_009":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","58d8e6818acda3452900000a_004":"Which gene mutations cause the Marfan syndrome?","54df695b1388e8454a000004_004":"What is the synonym of the lubag disease?","52bf1d9e03868f1b06000010_012":"To the ligand of which receptors does Denosumab (Prolia) bind?","54f35ad864850a5854000004_010":"LY450139 is investigational name of which drug?","56d85e7751531f7e33000001_003":"Which SLC family is FLVCR1 a member of?","5891b125621ea6ff7e00000e_004":"Which disease is treated with taliglucerase alfa?","5a7237672dc08e987e000008_010":"Which drug can be reversed with idarucizumab?","53357193d6d3ac6a34000047_003":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5891f9e549702f2e01000002_021":"Willis-Ekbom disease is also known as?","54ff45966ad7dcbc12000010_005":"Which protein is causing Netherton syndrome?","5ab147edfcf4565872000013_007":"The Mantoux test detects what latent infection\/disease?","554148c23f2354b713000001_003":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","58bfd8e902b8c60953000018_007":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5a8b1264fcd1d6a10c00001d_012":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","5895bc397d9090f35300000b_020":"Mutation of which gene is implicated in the Christianson syndrome?","5545186cbf90a13052000002_010":"Which gene strand is targeted by transcription-coupled repair (TCR)?","51631154298dcd4e5100004e_013":"What disease is Velcade (bortezomib) mainly used for?","56bb621fac7ad10019000009_002":"What causes Katayama Fever?","5a72329e2dc08e987e000006_003":"Falciform ligament sign is characteristic to which disease?","5543829fed966d112c000009_005":"Which is the major phytoalexin in alfalfa (Medicago sativa L.)?","55192892622b194345000012_001":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","58a32efe60087bc10a000013_018":"What is MRSA?","5a6e42f1b750ff4455000046_007":"What gene is mutated in Familial Mediterranean Fever?","56c048acef6e39474100001c_010":"Which enzyme is inhibited by Imetelstat?","58bc5e2202b8c60953000002_010":"Which human disease is associated with mutated UBQLN2","58861d413b87a8a738000002_026":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","550c3754a103b78016000007_003":"Which disease of the central nervous system is characterized by the presence of Lewy bodies?","5343fc1aaeec6fbd07000003_029":"Which is the gene mutated in type 1 neurofibromatosis?","56c3320a50c68dd416000008_004":"What is the incidence of cystic fibrosis in the caucasian population?","58edf567eda5a57672000011_004":"How many genes constitute the DosR regulon, controlled by the dormancy survival regulator (DosR) in Mycobacterium tuberculosis?","58a5b1fe60087bc10a000024_002":"What is the role of the UBC9 enzyme in the protein sumoylation pathway?","5357a6d0f1005d6b58000004_002":"Which is the branch site consensus sequence in U12-dependent introns?","550f0e4c6a8cde6b72000003_010":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","54f9c40ddd3fc62544000001_005":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","554148c23f2354b713000001_001":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","5118dd1305c10fae75000001_012":"Is Rheumatoid Arthritis more common in men or women?","51585b28d24251bc0500008d_007":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","54d8ea2c4b1fd0d33c000002_002":"Which is the most prevalent form of arrhythmia worldwide?","5353aedb288f4dae47000006_019":"Which is the transcript responsible for X-chromosome inactivation?","56ecfd572ac5ed1459000002_007":"How is oprozomib administered?","5890fde5621ea6ff7e000009_001":"Borden classification is used for which disease?","53398855d6d3ac6a3400005b_003":"What histone modification is recognized by the bromodomain?","5a7234352dc08e987e000007_011":"What is the most common histological diagnosis of \"butterfly glioma\"?","55200c606b348bb82c000013_023":"Which clotting factor is inhibited by betrixaban?","5357a6d0f1005d6b58000004_001":"Which is the branch site consensus sequence in U12-dependent introns?","5a742d620384be9551000002_011":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5324a8ac9b2d7acc7e000018_030":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","54fc99f36ad7dcbc12000004_004":"Neurostimulation of which nucleus is used for treatment of dystonia?","58cdb41302b8c60953000042_012":"What tissue is most affected in Ehlers-Danlos syndromes?","5abbe429fcf456587200001c_004":"What is the drug target for Eliquis (Apixaban)?","5a4df811966455904c00000e_004":"Which RNA polymerase II subunit carries RNA cleavage activity?","5147c8a6d24251bc05000027_007":"Which enzyme is deficient in Krabbe disease?","531464a6e3eabad021000014_005":"Mutation of which gene is associated with McLeod syndrome?","54edf81f94afd61504000014_001":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","56c048acef6e39474100001c_013":"Which enzyme is inhibited by Imetelstat?","58bfd8e902b8c60953000018_008":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","58a32efe60087bc10a000013_008":"What is MRSA?","58cdb41302b8c60953000042_002":"What tissue is most affected in Ehlers-Danlos syndromes?","56c1d856ef6e394741000032_004":"Which pathway is activated by ficolin-3?","58dd0dde8acda34529000027_001":"What tissue is commonly affected in Marfan's syndrome","52ece29f98d023950500002c_004":"Which thyroid hormone transporter is implicated in thyroid hormone resistance syndrome?","53318685d6d3ac6a3400003d_004":"What is the mode of inheritance of Acromicric dysplasia?","530cefaaad0bf1360c00000d_016":"Which hormone abnormalities are common in Williams syndrome ?","56bc751eac7ad10019000013_008":"Name synonym of Acrokeratosis paraneoplastica.","58e7902b3e8b6dc87c000007_004":"Which is the most common gene signature in Rheumatoid Arthritis patients?","5895bc397d9090f35300000b_022":"Mutation of which gene is implicated in the Christianson syndrome?","53124bdae3eabad02100000b_003":"Which is the molecular target of the immunosuppressant drug Rapamycin?","56c8274f5795f9a73e00000d_002":"Which type of cells is affected in Amyotrophic Lateral Sclerosis?","58e9e7aa3e8b6dc87c00000d_013":"Which is the major RNA editing enzyme in Drosophila melanogaster?","571f5c150fd6f91b68000009_008":"Which protein is found to be mutated in Friedreich's ataxia?","5324a8ac9b2d7acc7e000018_022":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a871a6861bb38fb24000009_008":"What disease is the ALK tyrosine kinase associated with?","56c1f003ef6e394741000039_009":"What molecule is targeted by suvorexant?","5ace238e0340b9f05800000d_003":"Which human chromosome is the product of fusion?","534abe8aaeec6fbd07000013_001":"Which heat shock protein is found to be upregulated during Hsp90 inhibition?","5540ca8a0083d1bf0e000003_007":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","56f7c15a09dd18d46b000012_006":"Which gene has been implicated in Majeed Syndrome?","571e40a8bb137a4b0c000009_002":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","552fac4fbc4f83e828000006_003":"Which fusion protein is involved in the development of Ewing sarcoma?","55421ee7ccca0ce74b000002_016":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","58e74bff3e8b6dc87c000004_005":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","5ace37d50340b9f058000011_006":"Which is the main reason for the increase in the incidence of cryptococcal disease?","52bf19f703868f1b06000002_002":"What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?","56c1f003ef6e394741000039_010":"What molecule is targeted by suvorexant?","5509bd6a1180f13250000002_002":"What disease is small bowel lymphoma commonly associated with","52ee9f55c8da898910000009_003":"What is the mode of inheritance of Romano Ward long QT syndrome?","58cdb41302b8c60953000042_016":"What tissue is most affected in Ehlers-Danlos syndromes?","5a804f71faa1ab7d2e00001d_004":"Which algorithm is used for detection of long repeat expansions?","5880aef4c872c95565000001_002":"What is the target of daratumumab?","55200c606b348bb82c000013_026":"Which clotting factor is inhibited by betrixaban?","588f9950ed9bbee70d000002_001":"Which gene is mutated in the Karak syndrome?","5891c90949702f2e01000001_010":"Which tool employs self organizing maps for analyzing synonymous codon usage?","53124bdae3eabad02100000b_002":"Which is the molecular target of the immunosuppressant drug Rapamycin?","5343bdd6aeec6fbd07000001_001":"Which is the phosphorylated residue in the promoter paused form of RNA polymerase II?","56bdcc4cef6e394741000002_001":"Which R\/bioconductor package utilizes the Hilbert curve in order to visualize genomic data?","5324a8ac9b2d7acc7e000018_026":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5540b9800083d1bf0e000002_006":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","58bfd8e902b8c60953000018_011":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","551fd9c06b348bb82c000012_019":"ROSIER scale is used for which disorder?","5ace19420340b9f05800000a_038":"Which gene is responsible for red hair?","52bf1b0a03868f1b06000009_008":"What is the mode of inheritance of Wilson's disease?","58d8e6818acda3452900000a_031":"Which gene mutations cause the Marfan syndrome?","5ab147edfcf4565872000013_002":"The Mantoux test detects what latent infection\/disease?","587e0116ae05ffb474000002_006":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","5118dd1305c10fae75000001_010":"Is Rheumatoid Arthritis more common in men or women?","53189656b166e2b80600001c_002":"Against which protein is the antibody used for immonostaining of Lewy bodies raised?","54d8fd334b1fd0d33c000005_002":"Rindopepimut is an analog of which growth factor?","569e7721ceceede94d000001_002":"What was the purpose of the FANTOM4 project?","5a6d196db750ff4455000032_002":"Which resource has been developed in order to study the transcriptional regulation of GABAergic cell fate?","54cf45e7f693c3b16b00000a_007":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","5880dba9c872c95565000009_001":"Which enzyme is inhibited by ribociclib?","5a4e50b242878bf97d000001_006":"Which topoisomerase is essential in yeast?","5a86f074faa1ab7d2e00003a_002":"With which cancers has the loss of SMARCB1 been associated?","532dcfc9d6d3ac6a34000021_008":"What is the characteristic domain of histone methyltransferases?","533ea8fcc45e133714000010_013":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","58eb9542eda5a57672000007_006":"Which protein is the main marker of Cajal bodies?","5353aedb288f4dae47000006_002":"Which is the transcript responsible for X-chromosome inactivation?","531464a6e3eabad021000014_013":"Mutation of which gene is associated with McLeod syndrome?","5880b073c872c95565000003_019":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","51635202298dcd4e5100004f_005":"How is myotonic dystrophy inherited?","58a32efe60087bc10a000013_001":"What is MRSA?","5a7234352dc08e987e000007_006":"What is the most common histological diagnosis of \"butterfly glioma\"?","55376f19bc4f83e82800000c_006":"Which is the most common type of pediatric cerebellar tumor?","5343fc1aaeec6fbd07000003_014":"Which is the gene mutated in type 1 neurofibromatosis?","5717d64f29809bbe7a000001_002":"Which is the cellular localization of the protein Opa1?","571e172bbb137a4b0c000002_002":"When was empagliflozin FDA approved?","56ffdc1ccf1c32585100000b_003":"Which is the most common editing modification in eukaryotic mRNA?","5a4df811966455904c00000e_003":"Which RNA polymerase II subunit carries RNA cleavage activity?","536e46f27d100faa09000012_010":"Which is the gene most commonly mutated in Tay-Sachs disease?","56bc7d71ac7ad10019000018_001":"Which disease can be treated with Delamanid?","589a246078275d0c4a00002a_018":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","56b7083376d8bf8d13000001_001":"What is the causative agent of the \"Panama disease\" affecting bananas?","5a86f074faa1ab7d2e00003a_007":"With which cancers has the loss of SMARCB1 been associated?","533ea8fcc45e133714000010_006":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","589d965a78275d0c4a000049_013":"Which polymerase transcribes pri-miRNAs?","58a32efe60087bc10a000013_022":"What is MRSA?","514a0a57d24251bc05000051_045":"Which drug should be used as an antidote in benzodiazepine overdose?","5ace19420340b9f05800000a_017":"Which gene is responsible for red hair?","532dcfc9d6d3ac6a34000021_017":"What is the characteristic domain of histone methyltransferases?","5880b812c872c95565000006_005":"Which infection can be prevented with Dapivirine?","58dd0dde8acda34529000027_008":"What tissue is commonly affected in Marfan's syndrome","56c1f045ef6e394741000058_004":"Selexipag is used for which disease?","531464a6e3eabad021000014_029":"Mutation of which gene is associated with McLeod syndrome?","5324a8ac9b2d7acc7e000018_027":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58f3ca5c70f9fc6f0f00000d_002":"The pathogen Fusarium graminearum affects what type of plant species?","5324a8ac9b2d7acc7e000018_014":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","53551206a0726bee57000001_004":"What is the major adverse effect of adriamycin(doxorubicin)?","531464a6e3eabad021000014_018":"Mutation of which gene is associated with McLeod syndrome?","5a9da8df4e03427e73000006_001":"What is emicizumab?","54f9ae2506d9727f76000002_001":"Which gene is mutated in a subtype of arrhythmogenic right ventricular cardiomyopathy known as Naxos disease?","589a246078275d0c4a00002a_021":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","58adc1ff9ef3c34033000006_003":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","58a32efe60087bc10a000013_041":"What is MRSA?","52fe58f82059c6d71c00007a_005":"Do archaeal genomes contain one or multiple origins of replication?","5a86f074faa1ab7d2e00003a_008":"With which cancers has the loss of SMARCB1 been associated?","56d1da3b67f0cb3d66000006_007":"How many periods of regulatory innovation led to the evolution of vertebrates?","5710a592cf1c32585100002a_006":"Which metabolite activates AtxA?","530f900ee3eabad021000003_012":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","52bf1f1303868f1b06000014_003":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","5323640b9b2d7acc7e000014_002":"Which gene is involved in CADASIL?","5891c90949702f2e01000001_002":"Which tool employs self organizing maps for analyzing synonymous codon usage?","58d8e6818acda3452900000a_001":"Which gene mutations cause the Marfan syndrome?","571f33bd0fd6f91b68000003_009":"Which gene is responsible for the development of Sotos syndrome?","5a6900ebb750ff445500001d_002":"Which disease is diagnosed using the Finkelstein's test?","5710a592cf1c32585100002a_003":"Which metabolite activates AtxA?","571e12097de986d80d000017_010":"Which protein does empagliflozin inhibit?","58bc5e2202b8c60953000002_006":"Which human disease is associated with mutated UBQLN2","5a7237672dc08e987e000008_025":"Which drug can be reversed with idarucizumab?","551fd9c06b348bb82c000012_016":"ROSIER scale is used for which disorder?","51635202298dcd4e5100004f_004":"How is myotonic dystrophy inherited?","54d907c84b1fd0d33c000008_002":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","5a774fdcfaa1ab7d2e000008_022":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","58bcabc702b8c6095300000e_001":"What gene is mutated in Sickle Cell Anemia?","56b76f496e3f8eaf4c000002_002":"What does the SAGA complex acronym stands for?","532f55fed6d3ac6a34000036_019":"What is the gene mutated in the Gaucher disease?","58bfd8e902b8c60953000018_020":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","58861d413b87a8a738000002_013":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","55475dc2f35db75526000001_005":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","56df03c751531f7e3300000a_002":"Which properties of the mRNA does N6-methyladenosine (m6A) affect?","56c1f02aef6e39474100004b_001":"Which interleukin is blocked by Siltuximab?","5171438a8ed59a060a000007_004":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","58bfd8e902b8c60953000018_001":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","58bca2f302b8c6095300000c_002":"What chromosome is affected in Turner's syndrome?","554140ad182542114d000003_002":"Which is the database of molecular recognition features in membrane proteins?","58cbb98c02b8c60953000034_066":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5343fc1aaeec6fbd07000003_033":"Which is the gene mutated in type 1 neurofibromatosis?","5171438a8ed59a060a000007_006":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","5710e131a5ed216440000001_018":"In which yeast chromosome does the rDNA cluster reside?","511a3573df1ebcce7d000018_003":"How many tissue kallikrein genes are present in the human genome?","587e1a01fc7e8dd84f000001_004":"Which annotated database of A-to-I RNA editing is available?","531464a6e3eabad021000014_009":"Mutation of which gene is associated with McLeod syndrome?","5118dd1305c10fae75000001_011":"Is Rheumatoid Arthritis more common in men or women?","5149f494d24251bc0500004c_016":"Which medication should be administered when managing patients with suspected acute opioid overdose?","56c048acef6e39474100001c_007":"Which enzyme is inhibited by Imetelstat?","589a247078275d0c4a000035_020":"Dinutuximab is used for treatment of which disease?","58cbb98c02b8c60953000034_003":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a67b2f7b750ff445500000f_007":"Which type of urinary incontinence is diagnosed with the Q tip test?","58eb9542eda5a57672000007_013":"Which protein is the main marker of Cajal bodies?","54e1bdacae9738404b000009_001":"What is generic name of drug Adempas?","5519110f622b19434500000c_006":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","5a774fdcfaa1ab7d2e000008_020":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5891f9e549702f2e01000002_041":"Willis-Ekbom disease is also known as?","536e46f27d100faa09000012_007":"Which is the gene most commonly mutated in Tay-Sachs disease?","58e23ec66fddd3e83e000010_002":"What is the genus for the common European honey bee?","56c1d856ef6e394741000032_006":"Which pathway is activated by ficolin-3?","5880b073c872c95565000003_001":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5518e7da622b194345000004_005":"Which MAP kinase phosphorylates the transcription factor c-jun?","531464a6e3eabad021000014_052":"Mutation of which gene is associated with McLeod syndrome?","56e0447a51531f7e3300000b_015":"Which are the smallest known subviral pathogens of plants?","5880a8ec0a76a87357000001_002":"Which R package is used for the detection of chromosomal abnormalities from microarray data?","5a761ac3aacfb9cd4c000002_006":"What is the most common feature of the Doege\u2013Potter syndrome?","54f9b74306d9727f76000004_003":"The drug JTV519 is derivative of which group of chemical compounds?","551fd9c06b348bb82c000012_009":"ROSIER scale is used for which disorder?","5890e163621ea6ff7e000004_004":"What is the target of tanezumab?","5891c90949702f2e01000001_019":"Which tool employs self organizing maps for analyzing synonymous codon usage?","589a246078275d0c4a00002a_019":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","536e46f27d100faa09000012_006":"Which is the gene most commonly mutated in Tay-Sachs disease?","5abd13e1fcf4565872000029_002":"Where in the body would the navicular bone be found?","532dcfc9d6d3ac6a34000021_021":"What is the characteristic domain of histone methyltransferases?","56f4011709dd18d46b000003_001":"What is the main symptom of Marfan syndrome patients?","56c8274f5795f9a73e00000d_004":"Which type of cells is affected in Amyotrophic Lateral Sclerosis?","58bc5e2202b8c60953000002_002":"Which human disease is associated with mutated UBQLN2","587e1bfdfc7e8dd84f000002_001":"Which is the genome browser database for DNA shape annotations?","5171438a8ed59a060a000007_007":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","58cbb98c02b8c60953000034_061":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","551fd9c06b348bb82c000012_014":"ROSIER scale is used for which disorder?","55032efde9bde69634000035_001":"Which receptor is targeted by telcagepant?","5a896c26fcd1d6a10c000007_004":"In which syndrome is the RPS19 gene most frequently mutated?","56c1f00cef6e39474100003e_001":"Aleglitazar is agonist of which receptor?","55242d512c8b63434a000006_001":"Which receptors can be evaluated with the [18F]altanserin?","58bc5e2202b8c60953000002_008":"Which human disease is associated with mutated UBQLN2","5a774fdcfaa1ab7d2e000008_005":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5ace19420340b9f05800000a_016":"Which gene is responsible for red hair?","58861d413b87a8a738000002_008":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5a6f853ab750ff4455000055_003":"Which disease can be diagnosed with the \"probe to bone\" test?","56f564f909dd18d46b000009_006":"Which syndrome is associated with mutations in the LYST gene?","5ace19420340b9f05800000a_028":"Which gene is responsible for red hair?","58f4b9d470f9fc6f0f000016_006":"What organism causes tularemia?","5a6e24a5b750ff445500003c_004":"Which workflow in Bioconductor has been developed for accessing human RNA-seq samples?","5891f9e549702f2e01000002_019":"Willis-Ekbom disease is also known as?","589185cc621ea6ff7e00000b_003":"Which disease is treated with Nusinersen?","5880b073c872c95565000003_035":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","52c7275103868f1b0600001c_004":"What is the inheritance pattern of Apert syndrome?","531464a6e3eabad021000014_043":"Mutation of which gene is associated with McLeod syndrome?","516e7fda298dcd4e51000081_008":"Which is the methyl donor of histone methyltransferases?","5171438a8ed59a060a000007_010":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","5506c3e38e1671127b00000a_015":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58f0b0c070f9fc6f0f000006_001":"What is the indication for valbenazine?","5891c90949702f2e01000001_004":"Which tool employs self organizing maps for analyzing synonymous codon usage?","56f564f909dd18d46b000009_008":"Which syndrome is associated with mutations in the LYST gene?","571e12097de986d80d000017_003":"Which protein does empagliflozin inhibit?","554140ad182542114d000003_003":"Which is the database of molecular recognition features in membrane proteins?","55421ee7ccca0ce74b000002_039":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","52bf208003868f1b06000019_001":"What is the inheritance pattern of Li\u2013Fraumeni syndrome?","5149f494d24251bc0500004c_017":"Which medication should be administered when managing patients with suspected acute opioid overdose?","58861d413b87a8a738000002_007":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","52e8e93498d023950500001e_001":"What is the mode of inheritance of Facioscapulohumeral muscular\ndystrophy (FSHD)?","52f509512059c6d71c000020_001":"What is the mode of inheritance of short QT syndrome?","5a7237672dc08e987e000008_018":"Which drug can be reversed with idarucizumab?","58f4b25e70f9fc6f0f000011_005":"Hy's law measures failure for what organ?","54ede28094afd61504000003_001":"What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations?","5895f7e978275d0c4a000001_005":"What fruit causes Jamaican vomiting sickness?","5314bd7ddae131f847000006_006":"Which hormone receptor function is altered in patients with Donohue syndrome?","5518e7da622b194345000004_016":"Which MAP kinase phosphorylates the transcription factor c-jun?","550f0e4c6a8cde6b72000003_034":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5884c72fe56acf517600000f_003":"What molecule is targeted by Avelumab?","56c079b1ef6e394741000022_002":"Idarucizumab is an antidote of which drug?","5ace238e0340b9f05800000d_007":"Which human chromosome is the product of fusion?","51631154298dcd4e5100004e_003":"What disease is Velcade (bortezomib) mainly used for?","54f9b74306d9727f76000004_012":"The drug JTV519 is derivative of which group of chemical compounds?","5a6e42f1b750ff4455000046_004":"What gene is mutated in Familial Mediterranean Fever?","58e74bff3e8b6dc87c000004_008":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","55032efde9bde69634000035_009":"Which receptor is targeted by telcagepant?","571f33bd0fd6f91b68000003_006":"Which gene is responsible for the development of Sotos syndrome?","514a0a57d24251bc05000051_007":"Which drug should be used as an antidote in benzodiazepine overdose?","534427f8aeec6fbd07000009_004":"Are most driver gene mutations synonymous or non-synonymous?","56c1f009ef6e39474100003c_002":"Which disease is treated with Eliglustat?","51387022bee46bd34c000002_002":"Which is the process that Conserved noncoding elements mostly regulate?","54d907c84b1fd0d33c000008_003":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","56a24dfffe92d6fd19000002_002":"What is the role of eteplirsen in DMD patients?","550e828c71445a662f000002_005":"Which molecule is targeted by the drug Gevokizumab?","588f8e9794c1512c50000005_008":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","56cb9b065795f9a73e000032_005":"Which kinase is inhibited by Tripolin A?","55032efde9bde69634000035_011":"Which receptor is targeted by telcagepant?","56c8f4615795f9a73e00001a_009":"Which genome browser database for DNA shape annotations is available?","56cb9b065795f9a73e000032_006":"Which kinase is inhibited by Tripolin A?","589a246078275d0c4a00002a_029":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","587e3129c32c812009000002_002":"Which R \/ bioconductor package is used for performing SNP enrichment analysis?","55242d512c8b63434a000006_026":"Which receptors can be evaluated with the [18F]altanserin?","5ace37d50340b9f058000011_014":"Which is the main reason for the increase in the incidence of cryptococcal disease?","53551206a0726bee57000001_002":"What is the major adverse effect of adriamycin(doxorubicin)?","54e8c7220fc566b149000002_001":"Where in the cell does the proteins S100A4 and p53 interact ?","5709ee36cf1c32585100001e_002":"Which syndrome is associated with mutant DVL1?","570917bccf1c325851000015_001":"Do A-type lamins bind euchromatin or heterochromatin?","5343fc1aaeec6fbd07000003_021":"Which is the gene mutated in type 1 neurofibromatosis?","571f33bd0fd6f91b68000003_012":"Which gene is responsible for the development of Sotos syndrome?","5a67b2f7b750ff445500000f_004":"Which type of urinary incontinence is diagnosed with the Q tip test?","5506c3e38e1671127b00000a_046":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58cbb98c02b8c60953000034_059":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","57136a7e1174fb1755000006_006":"How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus?","58efa36d70f9fc6f0f000004_001":"What is the cause of Tardive dyskinesia?","551fd9c06b348bb82c000012_013":"ROSIER scale is used for which disorder?","5147c8a6d24251bc05000027_013":"Which enzyme is deficient in Krabbe disease?","530f900ee3eabad021000003_006":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","5a804f71faa1ab7d2e00001d_003":"Which algorithm is used for detection of long repeat expansions?","587e3e302420191125000002_002":"Which R \/ bioconductor package is used for enrichment analysis of genomic regions?","5506c3e38e1671127b00000a_042":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","571f5c150fd6f91b68000009_016":"Which protein is found to be mutated in Friedreich's ataxia?","51585b28d24251bc0500008d_021":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","532366f09b2d7acc7e000015_003":"Which amino acid residue appears mutated in most of the cases reported with  cadasil syndrome?","5ace19420340b9f05800000a_054":"Which gene is responsible for red hair?","56d860ad51531f7e33000002_007":"Which syndrome is NHE6 associated with?","55032e65e9bde69634000034_016":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5118dd1305c10fae75000001_001":"Is Rheumatoid Arthritis more common in men or women?","54d649843706e89528000009_007":"What is the target of the drug Olaparib?","58a5a51060087bc10a000021_010":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","554148c23f2354b713000001_005":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","593ff22b70f9fc6f0f000023_001":"How many Groucho-related genes (GRG) are contained in the mouse genome?","5a7617b183b0d9ea66000022_001":"What is inhibited by a drug rilotumumab?","5a804f71faa1ab7d2e00001d_005":"Which algorithm is used for detection of long repeat expansions?","550af222c2af5d5b7000000b_003":"Which is the E3 ubiquitin ligase which ubiquitinates IkB leading to its proteasomal degradation?","5880aef4c872c95565000001_029":"What is the target of daratumumab?","55032efde9bde69634000035_020":"Which receptor is targeted by telcagepant?","58cbb98c02b8c60953000034_020":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","54d649843706e89528000009_004":"What is the target of the drug Olaparib?","54f35ad864850a5854000004_004":"LY450139 is investigational name of which drug?","530f900ee3eabad021000003_004":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","56f7c15a09dd18d46b000012_005":"Which gene has been implicated in Majeed Syndrome?","530cefaaad0bf1360c000012_015":"Which deficiency is the cause of restless leg syndrome?","531464a6e3eabad021000014_008":"Mutation of which gene is associated with McLeod syndrome?","5891f9e549702f2e01000002_006":"Willis-Ekbom disease is also known as?","5ac3699f0340b9f058000001_003":"Are human enhancers or promoters evolving faster?","55054f8af73303d458000002_005":"Which bone protein is used in archaelogy for dating and species identification?","55200c606b348bb82c000013_012":"Which clotting factor is inhibited by betrixaban?","589a247078275d0c4a000035_009":"Dinutuximab is used for treatment of which disease?","5a896c26fcd1d6a10c000007_002":"In which syndrome is the RPS19 gene most frequently mutated?","5a4e50b242878bf97d000001_001":"Which topoisomerase is essential in yeast?","5324a8ac9b2d7acc7e000018_005":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56c1d857ef6e394741000033_006":"What enzyme is inhibied by Opicapone?","5353aedb288f4dae47000006_001":"Which is the transcript responsible for X-chromosome inactivation?","536e46f27d100faa09000012_008":"Which is the gene most commonly mutated in Tay-Sachs disease?","5353aedb288f4dae47000006_018":"Which is the transcript responsible for X-chromosome inactivation?","58dd0dde8acda34529000027_006":"What tissue is commonly affected in Marfan's syndrome","55242d512c8b63434a000006_014":"Which receptors can be evaluated with the [18F]altanserin?","58bc8e7a02b8c60953000007_008":"What is plantar fasciitis","56d1f790f22319765a000001_012":"Which gene harbors the mutation T790M?","5a68f448b750ff4455000018_005":"Which bacteria causes erythrasma?","56c1f01def6e394741000045_015":"Orteronel was developed for treatment of which cancer?","5509bd6a1180f13250000002_003":"What disease is small bowel lymphoma commonly associated with","56c048acef6e39474100001c_016":"Which enzyme is inhibited by Imetelstat?","58dd0dde8acda34529000027_005":"What tissue is commonly affected in Marfan's syndrome","57136a7e1174fb1755000006_004":"How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus?","56c3184050c68dd416000003_009":"What is the indication for isradipine?","5324a8ac9b2d7acc7e000018_064":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58a2e5f760087bc10a000007_024":"Which is the primary protein component of Lewy bodies?","530cefaaad0bf1360c000012_003":"Which deficiency is the cause of restless leg syndrome?","55201a316b348bb82c000019_001":"What is the sedimentation coefficient of the mammalian mitoribosome?","54e0d1491388e8454a000014_009":"Which enzyme is targeted by Evolocumab?","54db62a3034aea571d000001_001":"Which is the main calcium pump of the sarcoplasmic reticulum?","5abcf010fcf4565872000023_008":"What nerve is involved in carpal tunnel syndrome?","54f9cb34dd3fc62544000002_003":"Which protein has been found to interact with phospholamban (PLN) and is also an anti-apoptotic protein?","551fd9c06b348bb82c000012_015":"ROSIER scale is used for which disorder?","550739cf3b8a5dc045000002_002":"Which is the RNA sequence of the canonical polyadenylation signal?","531464a6e3eabad021000014_061":"Mutation of which gene is associated with McLeod syndrome?","5343fc1aaeec6fbd07000003_026":"Which is the gene mutated in type 1 neurofibromatosis?","56f564f909dd18d46b000009_011":"Which syndrome is associated with mutations in the LYST gene?","514a0a57d24251bc05000051_019":"Which drug should be used as an antidote in benzodiazepine overdose?","51596a8ad24251bc0500009e_001":"Where in the cell do we find the protein Cep135?","5343fc1aaeec6fbd07000003_019":"Which is the gene mutated in type 1 neurofibromatosis?","5506c3e38e1671127b00000a_010":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a4df811966455904c00000e_010":"Which RNA polymerase II subunit carries RNA cleavage activity?","550618f58e1671127b000007_002":"Which protein is the main inhibitor of protein phosphatase 1 (PP1)?","5a7237672dc08e987e000008_031":"Which drug can be reversed with idarucizumab?","5a7877c0faa1ab7d2e00000c_004":"What is the first line treatment for sarcoidosis?","589630f378275d0c4a000007_009":"Which enzyme is inhibited by ixazomib?","58a6db8660087bc10a00002c_010":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","58f4b25e70f9fc6f0f000011_007":"Hy's law measures failure for what organ?","5ab90a79fcf456587200001b_003":"What drug treatment can cause a spinal epidural hematoma?","514a0a57d24251bc05000051_002":"Which drug should be used as an antidote in benzodiazepine overdose?","58b6978822d300530900000a_008":"Which disease the London mutation involved in?","54f9c40ddd3fc62544000001_016":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","56c3320a50c68dd416000008_003":"What is the incidence of cystic fibrosis in the caucasian population?","5ace238e0340b9f05800000d_012":"Which human chromosome is the product of fusion?","5710e131a5ed216440000001_001":"In which yeast chromosome does the rDNA cluster reside?","5891f9e549702f2e01000002_030":"Willis-Ekbom disease is also known as?","56cb9b065795f9a73e000032_007":"Which kinase is inhibited by Tripolin A?","5880b073c872c95565000003_020":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","52ee9f55c8da898910000009_001":"What is the mode of inheritance of Romano Ward long QT syndrome?","5ace12be0340b9f058000007_009":"Which gene is responsible for proper speech development?","56c048acef6e39474100001c_029":"Which enzyme is inhibited by Imetelstat?","5a742d620384be9551000002_013":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5343caffaeec6fbd07000002_001":"Which is the human selenoprotein that contains several Se-Cys residues?","56e6ec49edfc094c1f000005_001":"Which is the target of the drug Denosumab?","58bfd8e902b8c60953000018_010":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","571e14fbbb137a4b0c000001_005":"For which type of diabetes can empagliflozin be used?","587e2300fc7e8dd84f000004_009":"Which R package could be used for the identification of pediatric brain tumors?","532dcfc9d6d3ac6a34000021_016":"What is the characteristic domain of histone methyltransferases?","55242d512c8b63434a000006_008":"Which receptors can be evaluated with the [18F]altanserin?","5324a8ac9b2d7acc7e000018_057":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","550c3d45a103b78016000008_004":"What is the main component of the Lewy bodies?","56c048acef6e39474100001c_001":"Which enzyme is inhibited by Imetelstat?","571e40a8bb137a4b0c000009_011":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","55421ee7ccca0ce74b000002_020":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","58e74bff3e8b6dc87c000004_004":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","54f608f85f206a0c06000007_001":"What is the Drosophila melanogaster Groucho protein?","5710e131a5ed216440000001_006":"In which yeast chromosome does the rDNA cluster reside?","587f7a69d8d850a152000001_003":"Which library is used for fixed-length approximate string matching?","56ed03862ac5ed1459000004_012":"Which enzyme does MLN4924 inhibit?","52ee9f55c8da898910000009_004":"What is the mode of inheritance of Romano Ward long QT syndrome?","5343fc1aaeec6fbd07000003_007":"Which is the gene mutated in type 1 neurofibromatosis?","5343fc1aaeec6fbd07000003_008":"Which is the gene mutated in type 1 neurofibromatosis?","58a57f9460087bc10a00001f_002":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","531464a6e3eabad021000014_001":"Mutation of which gene is associated with McLeod syndrome?","5313058de3eabad02100000e_005":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","58a32efe60087bc10a000013_045":"What is MRSA?","52f89fc62059c6d71c000050_005":"From which tissue was the NCI-H520 cell-line derived?","589d965a78275d0c4a000049_007":"Which polymerase transcribes pri-miRNAs?","5880b073c872c95565000003_002":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","587e3e302420191125000002_004":"Which R \/ bioconductor package is used for enrichment analysis of genomic regions?","54db62a3034aea571d000001_008":"Which is the main calcium pump of the sarcoplasmic reticulum?","55200c606b348bb82c000013_022":"Which clotting factor is inhibited by betrixaban?","52fa6ac72059c6d71c000055_003":"Is the transcriptional regulator BACH1 an activator or a repressor?","58d8e6818acda3452900000a_034":"Which gene mutations cause the Marfan syndrome?","5a72329e2dc08e987e000006_002":"Falciform ligament sign is characteristic to which disease?","5abcf010fcf4565872000023_005":"What nerve is involved in carpal tunnel syndrome?","52bf1d9e03868f1b06000010_005":"To the ligand of which receptors does Denosumab (Prolia) bind?","532498959b2d7acc7e000017_002":"Which enzyme is targeted by the drug Imetelstat?","550e828c71445a662f000002_004":"Which molecule is targeted by the drug Gevokizumab?","530cf4c54a5037880c000008_008":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","55475dc2f35db75526000001_011":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","5abcf010fcf4565872000023_011":"What nerve is involved in carpal tunnel syndrome?","5506c3e38e1671127b00000a_047":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","55376f19bc4f83e82800000c_003":"Which is the most common type of pediatric cerebellar tumor?","54f1e031c409818c32000001_002":"DX-88 is investigational name of which drug?","530cefaaad0bf1360c000012_005":"Which deficiency is the cause of restless leg syndrome?","517194ef8ed59a060a000011_003":"Which is the causative agent of malaria?","5147c088d24251bc05000026_003":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","56c04412ef6e39474100001b_007":"Which molecule is targeted by Daratumumab?","5891f9e549702f2e01000002_016":"Willis-Ekbom disease is also known as?","530cf4c54a5037880c000008_006":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5506c3e38e1671127b00000a_002":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58a6db8660087bc10a00002c_011":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5324a8ac9b2d7acc7e000018_011":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a871a6861bb38fb24000009_001":"What disease is the ALK tyrosine kinase associated with?","58cbb98c02b8c60953000034_006":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a6a3464b750ff4455000026_007":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","55242d512c8b63434a000006_024":"Which receptors can be evaluated with the [18F]altanserin?","5a896c26fcd1d6a10c000007_007":"In which syndrome is the RPS19 gene most frequently mutated?","5506c3e38e1671127b00000a_017":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5891b125621ea6ff7e00000e_005":"Which disease is treated with taliglucerase alfa?","54f9b74306d9727f76000004_020":"The drug JTV519 is derivative of which group of chemical compounds?","54cb9c94f693c3b16b000005_021":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","587e1bfdfc7e8dd84f000002_005":"Which is the genome browser database for DNA shape annotations?","55200c606b348bb82c000013_025":"Which clotting factor is inhibited by betrixaban?","5a679e8cb750ff4455000006_013":"Milwaukee protocol was tested for treatment of which disease?","5a679e8cb750ff4455000006_005":"Milwaukee protocol was tested for treatment of which disease?","530cefaaad0bf1360c00000d_007":"Which hormone abnormalities are common in Williams syndrome ?","56d85e7751531f7e33000001_005":"Which SLC family is FLVCR1 a member of?","56bc77a3ac7ad10019000015_005":"RTS S AS01 vaccine was developed to prevent which disease?","52c7275103868f1b0600001c_005":"What is the inheritance pattern of Apert syndrome?","530cf4e0c8a0b4a00c000006_006":"Which is the most common cause of sudden cardiac death in young athletes?","56bc77a3ac7ad10019000015_022":"RTS S AS01 vaccine was developed to prevent which disease?","5324a8ac9b2d7acc7e000018_009":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56f7c15a09dd18d46b000012_003":"Which gene has been implicated in Majeed Syndrome?","56ed03862ac5ed1459000004_016":"Which enzyme does MLN4924 inhibit?","58cbb98c02b8c60953000034_064":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","58a2e5f760087bc10a000007_017":"Which is the primary protein component of Lewy bodies?","55180ef46487737b43000006_002":"What is the typical rash associated with gluten ?","55200c606b348bb82c000013_017":"Which clotting factor is inhibited by betrixaban?","5324a8ac9b2d7acc7e000018_051":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a4df811966455904c00000e_008":"Which RNA polymerase II subunit carries RNA cleavage activity?","58b6978822d300530900000a_001":"Which disease the London mutation involved in?","589a246078275d0c4a00002a_006":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","55421ee7ccca0ce74b000002_024":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5ac3699f0340b9f058000001_001":"Are human enhancers or promoters evolving faster?","589480b47d9090f353000007_006":"Which server is used for simulation of macromolecular diffusional association?","54fc99f36ad7dcbc12000004_001":"Neurostimulation of which nucleus is used for treatment of dystonia?","5a7237672dc08e987e000008_005":"Which drug can be reversed with idarucizumab?","531464a6e3eabad021000014_054":"Mutation of which gene is associated with McLeod syndrome?","54e0d1491388e8454a000014_008":"Which enzyme is targeted by Evolocumab?","5a6900ebb750ff445500001d_007":"Which disease is diagnosed using the Finkelstein's test?","571f5c150fd6f91b68000009_001":"Which protein is found to be mutated in Friedreich's ataxia?","58bc8e7a02b8c60953000007_003":"What is plantar fasciitis","56ae6e650a360a5e4500000e_009":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","55421ee7ccca0ce74b000002_008":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","55421ee7ccca0ce74b000002_027":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","56c5feb75795f9a73e000006_003":"Which is the most common CFTR mutation in Caucasians?","589a247078275d0c4a000035_027":"Dinutuximab is used for treatment of which disease?","54cf7051f693c3b16b000013_006":"Treatment of which disease was investigated in the MR CLEAN study?","54f1e031c409818c32000001_001":"DX-88 is investigational name of which drug?","5710a592cf1c32585100002a_007":"Which metabolite activates AtxA?","58c9a8fe02b8c6095300002a_001":"What alternate indication has Vanoxerine been repositioned for?","5519a7d5622b194345000015_005":"Which is the most abundant membrane protein on Earth?","5717dbfe7de986d80d000001_007":"What is the functional role of the protein Drp1?","5895bc397d9090f35300000b_003":"Mutation of which gene is implicated in the Christianson syndrome?","530f900ee3eabad021000003_001":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","5880b073c872c95565000003_043":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5325fdf0600967d132000001_001":"What is the gold standard treatment for Iatrogenic male incontinence?","54d649843706e89528000009_005":"What is the target of the drug Olaparib?","5148691bd24251bc0500002d_006":"Which protein is affected by dusp8 activation?","51585b28d24251bc0500008d_017":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","58cbb98c02b8c60953000034_016":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","512d0e635274a5fb07000005_003":"Which is the most widely used anti-TNF drug?","51542e44d24251bc05000081_008":"Mutations in which gene determine response to both erlotinib and gefitinib?","5891f9e549702f2e01000002_003":"Willis-Ekbom disease is also known as?","55421ee7ccca0ce74b000002_011":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","58f3ca5c70f9fc6f0f00000d_001":"The pathogen Fusarium graminearum affects what type of plant species?","5147c8a6d24251bc05000027_012":"Which enzyme is deficient in Krabbe disease?","5324a8ac9b2d7acc7e000018_036":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5353aedb288f4dae47000006_010":"Which is the transcript responsible for X-chromosome inactivation?","5a761ac3aacfb9cd4c000002_002":"What is the most common feature of the Doege\u2013Potter syndrome?","56c8f4615795f9a73e00001a_013":"Which genome browser database for DNA shape annotations is available?","56c1f02cef6e39474100004c_002":"GV1001 vaccine targets which enzyme?","58d8e6818acda3452900000a_007":"Which gene mutations cause the Marfan syndrome?","5a7237672dc08e987e000008_020":"Which drug can be reversed with idarucizumab?","58cbb98c02b8c60953000034_032":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5881f9b65bf093691f000001_001":"What do nerve-associated peripheral glial progenitors give rise to?","533be71dfd9a95ea0d000009_003":"Which is the histone residue methylated by MLL1?","5a86f074faa1ab7d2e00003a_006":"With which cancers has the loss of SMARCB1 been associated?","5a4e50b242878bf97d000001_008":"Which topoisomerase is essential in yeast?","587f7a69d8d850a152000001_001":"Which library is used for fixed-length approximate string matching?","56c048acef6e39474100001c_015":"Which enzyme is inhibited by Imetelstat?","514a0a57d24251bc05000051_039":"Which drug should be used as an antidote in benzodiazepine overdose?","5ace238e0340b9f05800000d_004":"Which human chromosome is the product of fusion?","550739cf3b8a5dc045000002_003":"Which is the RNA sequence of the canonical polyadenylation signal?","5880b073c872c95565000003_021":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","56c048acef6e39474100001c_024":"Which enzyme is inhibited by Imetelstat?","58bc5e2202b8c60953000002_003":"Which human disease is associated with mutated UBQLN2","5895bc397d9090f35300000b_018":"Mutation of which gene is implicated in the Christianson syndrome?","530cf4c54a5037880c000008_002":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","53357193d6d3ac6a34000047_005":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5a690487b750ff445500001f_008":"Which virus can be diagnosed with the monospot test?","51631154298dcd4e5100004e_018":"What disease is Velcade (bortezomib) mainly used for?","5a86f074faa1ab7d2e00003a_009":"With which cancers has the loss of SMARCB1 been associated?","56b710f276d8bf8d13000003_009":"What is the effect of a defective CLN3 gene?","530cefaaad0bf1360c000012_007":"Which deficiency is the cause of restless leg syndrome?","58bfd8e902b8c60953000018_014":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5a6e42f1b750ff4455000046_006":"What gene is mutated in Familial Mediterranean Fever?","58eb99f3eda5a57672000009_007":"Do origins of replication close to yeast centromeres fire early or late?","511a3573df1ebcce7d000018_001":"How many tissue kallikrein genes are present in the human genome?","56bc77a3ac7ad10019000015_007":"RTS S AS01 vaccine was developed to prevent which disease?","5895bc397d9090f35300000b_011":"Mutation of which gene is implicated in the Christianson syndrome?","58a32edd60087bc10a000012_007":"What is Contrave prescribed for?","54ede28094afd61504000003_003":"What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations?","51585b28d24251bc0500008d_020":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5abd2ce0fcf456587200002a_001":"Which are the two main bacterial phyla in human gut?","53357ca0d6d3ac6a3400004b_011":"Which enzyme is inhibited by a drug fostamatinib?","571f33bd0fd6f91b68000003_001":"Which gene is responsible for the development of Sotos syndrome?","5aae6499fcf456587200000c_003":"What is BORSA?","5a67ab79b750ff445500000b_004":"CURB65 score is used for stratification of which disease?","56ae6e650a360a5e4500000e_001":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","551fd9c06b348bb82c000012_017":"ROSIER scale is used for which disorder?","56c1f040ef6e394741000055_003":"Which antibodies cause Riedel thyroiditis?","5a68f005b750ff4455000016_021":"Which personality disorder is treated using dialectical behavior therapy?","58eb9542eda5a57672000007_024":"Which protein is the main marker of Cajal bodies?","55149f156a8cde6b72000013_001":"Which gene fusion is the result of the \"philadelphia translocation\" or the \"philadelphia chromosome\" mutation?","58adc1ff9ef3c34033000006_009":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","550f0e4c6a8cde6b72000003_029":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","530cefaaad0bf1360c00000d_018":"Which hormone abnormalities are common in Williams syndrome ?","5a871a6861bb38fb24000009_010":"What disease is the ALK tyrosine kinase associated with?","56bdc79bef6e394741000001_001":"Which eye condition is managed by the athens protocol?","5880e417713cbdfd3d000001_006":"Which disease is treated with ZMapp?","514a0a57d24251bc05000051_028":"Which drug should be used as an antidote in benzodiazepine overdose?","5547a01cf35db75526000005_013":"In which kingdom do microsporidia belong, according to their current classification scheme?","5a86f074faa1ab7d2e00003a_011":"With which cancers has the loss of SMARCB1 been associated?","5a79d0b8faa1ab7d2e00000d_005":"What cellular process are okazaki fragments associated with?","5343fc1aaeec6fbd07000003_004":"Which is the gene mutated in type 1 neurofibromatosis?","531464a6e3eabad021000014_047":"Mutation of which gene is associated with McLeod syndrome?","54f9b74306d9727f76000004_014":"The drug JTV519 is derivative of which group of chemical compounds?","5ace19420340b9f05800000a_053":"Which gene is responsible for red hair?","56f7c15a09dd18d46b000012_004":"Which gene has been implicated in Majeed Syndrome?","589480b47d9090f353000007_010":"Which server is used for simulation of macromolecular diffusional association?","58e23ec66fddd3e83e000010_003":"What is the genus for the common European honey bee?","531464a6e3eabad021000014_024":"Mutation of which gene is associated with McLeod syndrome?","58cbb98c02b8c60953000034_021":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","571e172bbb137a4b0c000002_001":"When was empagliflozin FDA approved?","5343caffaeec6fbd07000002_003":"Which is the human selenoprotein that contains several Se-Cys residues?","58cbb98c02b8c60953000034_019":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56afe6d40a360a5e45000017_001":"Which tool is used for promoterome mining using CAGE data?","56bc77a3ac7ad10019000015_015":"RTS S AS01 vaccine was developed to prevent which disease?","56ed0ffe2ac5ed1459000008_002":"Which type of myeloma is ixazomib being evaluated for?","5506c3e38e1671127b00000a_045":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5506c3e38e1671127b00000a_024":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","551c23bc6b348bb82c00000b_009":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","5a79d0b8faa1ab7d2e00000d_002":"What cellular process are okazaki fragments associated with?","54d8ea2c4b1fd0d33c000002_005":"Which is the most prevalent form of arrhythmia worldwide?","55054f8af73303d458000002_011":"Which bone protein is used in archaelogy for dating and species identification?","54cb9c94f693c3b16b000005_020":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5a896c26fcd1d6a10c000007_012":"In which syndrome is the RPS19 gene most frequently mutated?","58861d413b87a8a738000002_025":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5a7877c0faa1ab7d2e00000c_011":"What is the first line treatment for sarcoidosis?","56bb68f9ac7ad1001900000b_004":"What is the cause of Phthiriasis Palpebrarum?","58a32efe60087bc10a000013_034":"What is MRSA?","58853922e56acf5176000016_002":"To which disease does the loss of CD28 expression by liver-infiltrating T cells contribute?","55200c606b348bb82c000013_029":"Which clotting factor is inhibited by betrixaban?","587e2300fc7e8dd84f000004_008":"Which R package could be used for the identification of pediatric brain tumors?","5540b9800083d1bf0e000002_009":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","54df695b1388e8454a000004_012":"What is the synonym of the lubag disease?","58a32efe60087bc10a000013_006":"What is MRSA?","5a7346662dc08e987e00001a_005":"What causes \"Puffy hand syndrome\"?","5896271178275d0c4a000004_001":"Which disease is treated with lucinactant?","5547a01cf35db75526000005_014":"In which kingdom do microsporidia belong, according to their current classification scheme?","572096c90fd6f91b6800000e_018":"Which gene is involved in Giant Axonal Neuropathy?","589a246078275d0c4a00002a_036":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","58d8e6818acda3452900000a_017":"Which gene mutations cause the Marfan syndrome?","590c74d170f9fc6f0f00001e_005":"Which gene is the paralog of yeast UPC2?","588f9950ed9bbee70d000002_006":"Which gene is mutated in the Karak syndrome?","5324a8ac9b2d7acc7e000018_025":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5ace19420340b9f05800000a_011":"Which gene is responsible for red hair?","5a896c26fcd1d6a10c000007_017":"In which syndrome is the RPS19 gene most frequently mutated?","58a57f9460087bc10a00001f_034":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","54edf81f94afd61504000014_008":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","532dcfc9d6d3ac6a34000021_009":"What is the characteristic domain of histone methyltransferases?","5540ca8a0083d1bf0e000003_006":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","51631154298dcd4e5100004e_002":"What disease is Velcade (bortezomib) mainly used for?","5ace12be0340b9f058000007_014":"Which gene is responsible for proper speech development?","52fa6ac72059c6d71c000055_014":"Is the transcriptional regulator BACH1 an activator or a repressor?","5314bd7ddae131f847000006_011":"Which hormone receptor function is altered in patients with Donohue syndrome?","56cdf5195795f9a73e000045_008":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","5a774fdcfaa1ab7d2e000008_023":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","58f4b25e70f9fc6f0f000011_009":"Hy's law measures failure for what organ?","58d8e6818acda3452900000a_046":"Which gene mutations cause the Marfan syndrome?","58e9e7aa3e8b6dc87c00000d_019":"Which is the major RNA editing enzyme in Drosophila melanogaster?","5a67b2f7b750ff445500000f_001":"Which type of urinary incontinence is diagnosed with the Q tip test?","56c048acef6e39474100001c_021":"Which enzyme is inhibited by Imetelstat?","58a57f9460087bc10a00001f_019":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a742d620384be9551000002_007":"Which disease risk can be estimated with the Stop-Bang questionnaire?","54fc99f36ad7dcbc12000004_002":"Neurostimulation of which nucleus is used for treatment of dystonia?","5343fc1aaeec6fbd07000003_028":"Which is the gene mutated in type 1 neurofibromatosis?","5880aef4c872c95565000001_025":"What is the target of daratumumab?","51404dd723fec90375000002_002":"What is the methyl donor of DNA (cytosine-5)-methyltransferases?","587e07023ec846c24f000001_003":"Which software package is available for the analysis of conserved genomic loci?","5890e163621ea6ff7e000004_009":"What is the target of tanezumab?","5880aef4c872c95565000001_026":"What is the target of daratumumab?","550f0e4c6a8cde6b72000003_019":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5891f9e549702f2e01000002_023":"Willis-Ekbom disease is also known as?","56bb68f9ac7ad1001900000b_003":"What is the cause of Phthiriasis Palpebrarum?","5a6fa31ab750ff445500005e_003":"Which method has been developed for assignment of enhancers to target genes?","5540b9800083d1bf0e000002_012":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","5891f9e549702f2e01000002_005":"Willis-Ekbom disease is also known as?","58bca2f302b8c6095300000c_010":"What chromosome is affected in Turner's syndrome?","587e3129c32c812009000002_001":"Which R \/ bioconductor package is used for performing SNP enrichment analysis?","58eb9542eda5a57672000007_012":"Which protein is the main marker of Cajal bodies?","58f4b25e70f9fc6f0f000011_011":"Hy's law measures failure for what organ?","5a7617b183b0d9ea66000022_004":"What is inhibited by a drug rilotumumab?","56d1f790f22319765a000001_007":"Which gene harbors the mutation T790M?","588f9950ed9bbee70d000002_007":"Which gene is mutated in the Karak syndrome?","56ae6e650a360a5e4500000e_006":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","53357ca0d6d3ac6a3400004b_009":"Which enzyme is inhibited by a drug fostamatinib?","571f33bd0fd6f91b68000003_014":"Which gene is responsible for the development of Sotos syndrome?","58c27b7102b8c60953000021_003":"Which effects create neighborhoods of transcriptional regulation in eukaryotes?","5545186cbf90a13052000002_001":"Which gene strand is targeted by transcription-coupled repair (TCR)?","514a0a57d24251bc05000051_011":"Which drug should be used as an antidote in benzodiazepine overdose?","530f900ee3eabad021000003_005":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","52f509512059c6d71c000020_002":"What is the mode of inheritance of short QT syndrome?","5880b812c872c95565000006_004":"Which infection can be prevented with Dapivirine?","514a0a57d24251bc05000051_004":"Which drug should be used as an antidote in benzodiazepine overdose?","589d965a78275d0c4a000049_011":"Which polymerase transcribes pri-miRNAs?","55475dc2f35db75526000001_006":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","58a32efe60087bc10a000013_039":"What is MRSA?","512d0e635274a5fb07000005_001":"Which is the most widely used anti-TNF drug?","5545186cbf90a13052000002_018":"Which gene strand is targeted by transcription-coupled repair (TCR)?","56c048acef6e39474100001c_008":"Which enzyme is inhibited by Imetelstat?","531464a6e3eabad021000014_004":"Mutation of which gene is associated with McLeod syndrome?","58cbb98c02b8c60953000034_060":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","55421ee7ccca0ce74b000002_035":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","514a0a57d24251bc05000051_010":"Which drug should be used as an antidote in benzodiazepine overdose?","530cf4c54a5037880c000008_015":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5a8941c5bc7bade53a000002_001":"Which aminoacid position in the human CREB protein is phosphorylated?","554148c23f2354b713000001_004":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","52eea4dcc8da89891000000c_001":"What is the mode of inheritance of  long QT  Jervell and Lange-Nielsen syndrome?","589a247078275d0c4a000035_002":"Dinutuximab is used for treatment of which disease?","5880dba9c872c95565000009_003":"Which enzyme is inhibited by ribociclib?","5148691bd24251bc0500002d_010":"Which protein is affected by dusp8 activation?","5a68f448b750ff4455000018_011":"Which bacteria causes erythrasma?","5891c90949702f2e01000001_001":"Which tool employs self organizing maps for analyzing synonymous codon usage?","51631154298dcd4e5100004e_001":"What disease is Velcade (bortezomib) mainly used for?","589635dd78275d0c4a000009_006":"Which tool is used for the identification of recurrent variants in noncoding regions?","58a2e5f760087bc10a000007_003":"Which is the primary protein component of Lewy bodies?","58a2e5f760087bc10a000007_001":"Which is the primary protein component of Lewy bodies?","55032efde9bde69634000035_021":"Which receptor is targeted by telcagepant?","58f4b25e70f9fc6f0f000011_010":"Hy's law measures failure for what organ?","54edf81f94afd61504000014_003":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","5a75f6e083b0d9ea66000009_002":"Which data simulator is available for CLIP-SEQ experiments?","530cf4c54a5037880c000008_011":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","550f0e4c6a8cde6b72000003_004":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58df47f08acda3452900002f_001":"What is the indication of ARCALYST?","571f33bd0fd6f91b68000003_007":"Which gene is responsible for the development of Sotos syndrome?","550342a8f8aee20f27000002_004":"Which is the major symptom of the Doose syndrome?","56c1f003ef6e394741000039_007":"What molecule is targeted by suvorexant?","52bf19c503868f1b06000001_005":"What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?","5147c8a6d24251bc05000027_008":"Which enzyme is deficient in Krabbe disease?","5891c90949702f2e01000001_018":"Which tool employs self organizing maps for analyzing synonymous codon usage?","5880aef4c872c95565000001_014":"What is the target of daratumumab?","530cf4c54a5037880c000008_013":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5545186cbf90a13052000002_007":"Which gene strand is targeted by transcription-coupled repair (TCR)?","56c1f020ef6e394741000047_019":"Which disorder is rated by Palmini classification?","56cdf3e55795f9a73e00003c_001":"Which type of GTPases is required for amino acid-dependent activation of mTORC1?","58a6db8660087bc10a00002c_015":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","531464a6e3eabad021000014_041":"Mutation of which gene is associated with McLeod syndrome?","5a67ab79b750ff445500000b_002":"CURB65 score is used for stratification of which disease?","517818508ed59a060a000035_004":"Which is the neurodevelopmental disorder associated to mutations in the X- linked gene mecp2?","56ed03862ac5ed1459000004_001":"Which enzyme does MLN4924 inhibit?","5a76179d83b0d9ea66000021_005":"Which algorithm has been proposed for efficient storage of WGS variant calls?","58d8e6818acda3452900000a_040":"Which gene mutations cause the Marfan syndrome?","58a2e5f760087bc10a000007_023":"Which is the primary protein component of Lewy bodies?","5148691bd24251bc0500002d_001":"Which protein is affected by dusp8 activation?","58cdb41302b8c60953000042_011":"What tissue is most affected in Ehlers-Danlos syndromes?","571e40a8bb137a4b0c000009_006":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","5a7237672dc08e987e000008_030":"Which drug can be reversed with idarucizumab?","5177def18ed59a060a000034_001":"Which is the molecular mechanism underlying K-ras alterations in carcinomas?","58e74bff3e8b6dc87c000004_007":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","56c04412ef6e39474100001b_014":"Which molecule is targeted by Daratumumab?","58d906b28acda3452900000d_001":"Where is the TAZ (G4.5) is located in humans?","56cdf5195795f9a73e000045_005":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","554356d0ed966d112c000005_006":"Which is the most common measure of differences between dinucleotide relative abundance \"genomic signatures\"","5324a8ac9b2d7acc7e000018_004":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","551fd9c06b348bb82c000012_004":"ROSIER scale is used for which disorder?","54e1bdacae9738404b000009_007":"What is generic name of drug Adempas?","56c1f03bef6e394741000053_002":"Mutation of which gene is implicated in the Brain-lung-thyroid syndrome?","5a79d0b8faa1ab7d2e00000d_008":"What cellular process are okazaki fragments associated with?","530cefaaad0bf1360c000012_023":"Which deficiency is the cause of restless leg syndrome?","589d965a78275d0c4a000049_016":"Which polymerase transcribes pri-miRNAs?","5a6fa61ab750ff4455000060_004":"Which tool exists for microsatellite (SSR) loci detection and primer design?","58aa0c6f396a458e50000008_004":"Which is the \"bonding hormone\"?","5ace12be0340b9f058000007_006":"Which gene is responsible for proper speech development?","58a32efe60087bc10a000013_005":"What is MRSA?","5a7428090384be9551000001_005":"What can be predicted with the Wells criteria?","536e46f27d100faa09000012_003":"Which is the gene most commonly mutated in Tay-Sachs disease?","52ee9f55c8da898910000009_005":"What is the mode of inheritance of Romano Ward long QT syndrome?","5a8b1264fcd1d6a10c00001d_002":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","58bfd8e902b8c60953000018_009":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5a7639419e632bc066000005_001":"Which algorithm has been developed for prediction of protein subcellular localization using deep learning?","55421ee7ccca0ce74b000002_007":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5a7d51dafaa1ab7d2e000017_001":"What is the administration route of IVIG in Alzheimer's disease patients?","5a7346662dc08e987e00001a_003":"What causes \"Puffy hand syndrome\"?","58a57f9460087bc10a00001f_009":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","571f5c150fd6f91b68000009_006":"Which protein is found to be mutated in Friedreich's ataxia?","52f21e8f2059c6d71c00000c_001":"What is the most probable defect underlying triple negative breast cancer?","58d8e6818acda3452900000a_014":"Which gene mutations cause the Marfan syndrome?","55180ef46487737b43000006_010":"What is the typical rash associated with gluten ?","5895f7e978275d0c4a000001_006":"What fruit causes Jamaican vomiting sickness?","5895bc397d9090f35300000b_017":"Mutation of which gene is implicated in the Christianson syndrome?","54cb9c94f693c3b16b000005_008":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","531464a6e3eabad021000014_036":"Mutation of which gene is associated with McLeod syndrome?","590c74d170f9fc6f0f00001e_007":"Which gene is the paralog of yeast UPC2?","536e46f27d100faa09000012_001":"Which is the gene most commonly mutated in Tay-Sachs disease?","56c1f020ef6e394741000047_022":"Which disorder is rated by Palmini classification?","532f55fed6d3ac6a34000036_014":"What is the gene mutated in the Gaucher disease?","52f89fc62059c6d71c000050_002":"From which tissue was the NCI-H520 cell-line derived?","5519113b622b19434500000f_016":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5890e163621ea6ff7e000004_003":"What is the target of tanezumab?","5313058de3eabad02100000e_004":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","5a6f960fb750ff445500005c_008":"Centor criteria are used for which disease?","531464a6e3eabad021000014_010":"Mutation of which gene is associated with McLeod syndrome?","5547a01cf35db75526000005_011":"In which kingdom do microsporidia belong, according to their current classification scheme?","5a761ac3aacfb9cd4c000002_004":"What is the most common feature of the Doege\u2013Potter syndrome?","5710e131a5ed216440000001_004":"In which yeast chromosome does the rDNA cluster reside?","5a70e4b399e2c3af26000008_004":"Glecaprevir and Pibrentasvir are used for tratment of which disease?","530cf4c54a5037880c000008_014":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","56e0447a51531f7e3300000b_005":"Which are the smallest known subviral pathogens of plants?","58a57f9460087bc10a00001f_013":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5519110f622b19434500000c_001":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","52fa6ac72059c6d71c000055_021":"Is the transcriptional regulator BACH1 an activator or a repressor?","572096c90fd6f91b6800000e_005":"Which gene is involved in Giant Axonal Neuropathy?","532f55fed6d3ac6a34000036_005":"What is the gene mutated in the Gaucher disease?","531464a6e3eabad021000014_015":"Mutation of which gene is associated with McLeod syndrome?","5895bc397d9090f35300000b_008":"Mutation of which gene is implicated in the Christianson syndrome?","511a3573df1ebcce7d000018_012":"How many tissue kallikrein genes are present in the human genome?","5149f494d24251bc0500004c_006":"Which medication should be administered when managing patients with suspected acute opioid overdose?","54d73e223706e89528000010_001":"What is the generic name of Gliolan?","58a5b1fe60087bc10a000024_004":"What is the role of the UBC9 enzyme in the protein sumoylation pathway?","58d8e6818acda3452900000a_029":"Which gene mutations cause the Marfan syndrome?","5a6e42f1b750ff4455000046_003":"What gene is mutated in Familial Mediterranean Fever?","58a32efe60087bc10a000013_027":"What is MRSA?","533ea8fcc45e133714000010_004":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","54e8c7220fc566b149000002_002":"Where in the cell does the proteins S100A4 and p53 interact ?","58adc1ff9ef3c34033000006_006":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","531464a6e3eabad021000014_025":"Mutation of which gene is associated with McLeod syndrome?","56c1f03bef6e394741000053_004":"Mutation of which gene is implicated in the Brain-lung-thyroid syndrome?","5a7237672dc08e987e000008_028":"Which drug can be reversed with idarucizumab?","55200c606b348bb82c000013_004":"Which clotting factor is inhibited by betrixaban?","52f89fc62059c6d71c000050_008":"From which tissue was the NCI-H520 cell-line derived?","56c04412ef6e39474100001b_004":"Which molecule is targeted by Daratumumab?","56bc77a3ac7ad10019000015_003":"RTS S AS01 vaccine was developed to prevent which disease?","532f55fed6d3ac6a34000036_001":"What is the gene mutated in the Gaucher disease?","56c04412ef6e39474100001b_006":"Which molecule is targeted by Daratumumab?","55180ef46487737b43000006_020":"What is the typical rash associated with gluten ?","5880aef4c872c95565000001_023":"What is the target of daratumumab?","5ace19420340b9f05800000a_001":"Which gene is responsible for red hair?","54db62a3034aea571d000001_003":"Which is the main calcium pump of the sarcoplasmic reticulum?","5a4df811966455904c00000e_013":"Which RNA polymerase II subunit carries RNA cleavage activity?","5ace19420340b9f05800000a_037":"Which gene is responsible for red hair?","5518e7da622b194345000004_014":"Which MAP kinase phosphorylates the transcription factor c-jun?","56c85ed65795f9a73e000012_003":"Does dasatinib promote or inhibit T-cell proliferation?","514a0a57d24251bc05000051_034":"Which drug should be used as an antidote in benzodiazepine overdose?","511a3573df1ebcce7d000018_011":"How many tissue kallikrein genes are present in the human genome?","5aa6c800d6d6b54f79000012_001":"What is liquid liquid phase transition?","5ace238e0340b9f05800000d_015":"Which human chromosome is the product of fusion?","56afe6d40a360a5e45000017_004":"Which tool is used for promoterome mining using CAGE data?","56bc77a3ac7ad10019000015_024":"RTS S AS01 vaccine was developed to prevent which disease?","5a7234352dc08e987e000007_004":"What is the most common histological diagnosis of \"butterfly glioma\"?","58f4b9d470f9fc6f0f000016_007":"What organism causes tularemia?","5880aef4c872c95565000001_011":"What is the target of daratumumab?","56c048acef6e39474100001c_022":"Which enzyme is inhibited by Imetelstat?","589185cc621ea6ff7e00000b_018":"Which disease is treated with Nusinersen?","5a774fdcfaa1ab7d2e000008_010":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","571f5c150fd6f91b68000009_022":"Which protein is found to be mutated in Friedreich's ataxia?","550ea8f1b305b40c5c000005_003":"Pridopidine has been tested for treatment of which disorder?","58cdb41302b8c60953000042_023":"What tissue is most affected in Ehlers-Danlos syndromes?","56d860ad51531f7e33000002_001":"Which syndrome is NHE6 associated with?","5895bc397d9090f35300000b_002":"Mutation of which gene is implicated in the Christianson syndrome?","53357193d6d3ac6a34000047_010":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","587e1a01fc7e8dd84f000001_001":"Which annotated database of A-to-I RNA editing is available?","56b330bb39c782df06000001_002":"Which R\/bioconductor package is used for integrative genomics visualizations?","56c1d856ef6e394741000032_002":"Which pathway is activated by ficolin-3?","5880aef4c872c95565000001_017":"What is the target of daratumumab?","5506c3e38e1671127b00000a_018":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","550c3754a103b78016000007_002":"Which disease of the central nervous system is characterized by the presence of Lewy bodies?","552fac4fbc4f83e828000006_011":"Which fusion protein is involved in the development of Ewing sarcoma?","56f564f909dd18d46b000009_007":"Which syndrome is associated with mutations in the LYST gene?","5a9ac7ba1d1251d03b000013_001":"What does intepirdine target?","5a9ac7ba1d1251d03b000013_002":"What does intepirdine target?","55421ee7ccca0ce74b000002_005":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","54e1bdacae9738404b000009_002":"What is generic name of drug Adempas?","51716e808ed59a060a00000b_001":"Which is the vector of Louping ill virus?","5540ca8a0083d1bf0e000003_001":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","532f55fed6d3ac6a34000036_008":"What is the gene mutated in the Gaucher disease?","531464a6e3eabad021000014_035":"Mutation of which gene is associated with McLeod syndrome?","54d73e223706e89528000010_002":"What is the generic name of Gliolan?","5343fc1aaeec6fbd07000003_039":"Which is the gene mutated in type 1 neurofibromatosis?","56c1f020ef6e394741000047_020":"Which disorder is rated by Palmini classification?","56bc77a3ac7ad10019000015_012":"RTS S AS01 vaccine was developed to prevent which disease?","5aae6499fcf456587200000c_002":"What is BORSA?","5171438a8ed59a060a000007_008":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","5a6f853ab750ff4455000055_012":"Which disease can be diagnosed with the \"probe to bone\" test?","5891f9e549702f2e01000002_015":"Willis-Ekbom disease is also known as?","58a32efe60087bc10a000013_003":"What is MRSA?","52bf208003868f1b06000019_002":"What is the inheritance pattern of Li\u2013Fraumeni syndrome?","5a67ab79b750ff445500000b_001":"CURB65 score is used for stratification of which disease?","5880aef4c872c95565000001_019":"What is the target of daratumumab?","5147c8a6d24251bc05000027_006":"Which enzyme is deficient in Krabbe disease?","58aa0c6f396a458e50000008_003":"Which is the \"bonding hormone\"?","550e828c71445a662f000002_002":"Which molecule is targeted by the drug Gevokizumab?","5506c3e38e1671127b00000a_039":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","51542e44d24251bc05000081_002":"Mutations in which gene determine response to both erlotinib and gefitinib?","58d8e6818acda3452900000a_010":"Which gene mutations cause the Marfan syndrome?","58ea7248eda5a57672000002_002":"What is the phenotype of people carrying mutations in the gene PRDM12?","551fd9c06b348bb82c000012_023":"ROSIER scale is used for which disorder?","589a247078275d0c4a000035_010":"Dinutuximab is used for treatment of which disease?","514a0a57d24251bc05000051_025":"Which drug should be used as an antidote in benzodiazepine overdose?","5a6900ebb750ff445500001d_001":"Which disease is diagnosed using the Finkelstein's test?","5ace12be0340b9f058000007_008":"Which gene is responsible for proper speech development?","587e3e302420191125000002_003":"Which R \/ bioconductor package is used for enrichment analysis of genomic regions?","58cbb98c02b8c60953000034_013":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","530cf4e0c8a0b4a00c000006_011":"Which is the most common cause of sudden cardiac death in young athletes?","530cefaaad0bf1360c00000d_017":"Which hormone abnormalities are common in Williams syndrome ?","56bb68f9ac7ad1001900000b_001":"What is the cause of Phthiriasis Palpebrarum?","54d907c84b1fd0d33c000008_010":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","55242d512c8b63434a000006_007":"Which receptors can be evaluated with the [18F]altanserin?","52fa6ac72059c6d71c000055_001":"Is the transcriptional regulator BACH1 an activator or a repressor?","516e7fda298dcd4e51000081_009":"Which is the methyl donor of histone methyltransferases?","5a7428090384be9551000001_004":"What can be predicted with the Wells criteria?","5ace238e0340b9f05800000d_022":"Which human chromosome is the product of fusion?","58d8e6818acda3452900000a_037":"Which gene mutations cause the Marfan syndrome?","5324a8ac9b2d7acc7e000018_062":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5ace37d50340b9f058000011_007":"Which is the main reason for the increase in the incidence of cryptococcal disease?","5abd13e1fcf4565872000029_001":"Where in the body would the navicular bone be found?","571f33bd0fd6f91b68000003_010":"Which gene is responsible for the development of Sotos syndrome?","533be71dfd9a95ea0d000009_012":"Which is the histone residue methylated by MLL1?","56c048acef6e39474100001c_030":"Which enzyme is inhibited by Imetelstat?","52fa6ac72059c6d71c000055_012":"Is the transcriptional regulator BACH1 an activator or a repressor?","532f55fed6d3ac6a34000036_018":"What is the gene mutated in the Gaucher disease?","56c1f003ef6e394741000039_002":"What molecule is targeted by suvorexant?","56bc77a3ac7ad10019000015_020":"RTS S AS01 vaccine was developed to prevent which disease?","5ac3699f0340b9f058000001_004":"Are human enhancers or promoters evolving faster?","530cefaaad0bf1360c000012_025":"Which deficiency is the cause of restless leg syndrome?","51542e44d24251bc05000081_009":"Mutations in which gene determine response to both erlotinib and gefitinib?","58a2e5f760087bc10a000007_008":"Which is the primary protein component of Lewy bodies?","5ace19420340b9f05800000a_035":"Which gene is responsible for red hair?","531464a6e3eabad021000014_053":"Mutation of which gene is associated with McLeod syndrome?","533ea8fcc45e133714000010_001":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","58cbb98c02b8c60953000034_042":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5880b073c872c95565000003_036":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","589630f378275d0c4a000007_006":"Which enzyme is inhibited by ixazomib?","58a32efe60087bc10a000013_028":"What is MRSA?","5ace238e0340b9f05800000d_024":"Which human chromosome is the product of fusion?","56c1f010ef6e394741000041_001":"Simpson grading is used to describe resection of which brain tumor?","5323640b9b2d7acc7e000014_001":"Which gene is involved in CADASIL?","550f0e4c6a8cde6b72000003_013":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5891f9e549702f2e01000002_028":"Willis-Ekbom disease is also known as?","5a7237672dc08e987e000008_015":"Which drug can be reversed with idarucizumab?","5343fc1aaeec6fbd07000003_016":"Which is the gene mutated in type 1 neurofibromatosis?","587e1a01fc7e8dd84f000001_003":"Which annotated database of A-to-I RNA editing is available?","5518e7da622b194345000004_006":"Which MAP kinase phosphorylates the transcription factor c-jun?","5880b073c872c95565000003_039":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","55242d512c8b63434a000006_006":"Which receptors can be evaluated with the [18F]altanserin?","56c1f010ef6e394741000041_003":"Simpson grading is used to describe resection of which brain tumor?","55032efde9bde69634000035_003":"Which receptor is targeted by telcagepant?","53357193d6d3ac6a34000047_022":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","56c1f045ef6e394741000058_005":"Selexipag is used for which disease?","56c1f045ef6e394741000058_001":"Selexipag is used for which disease?","589a246078275d0c4a00002a_031":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","588f9950ed9bbee70d000002_004":"Which gene is mutated in the Karak syndrome?","5abcf0b0fcf4565872000024_003":"What causes leishmaniasis?","58bca2f302b8c6095300000c_005":"What chromosome is affected in Turner's syndrome?","58eb99f3eda5a57672000009_004":"Do origins of replication close to yeast centromeres fire early or late?","5a774fdcfaa1ab7d2e000008_001":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5506c3e38e1671127b00000a_027":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a742d620384be9551000002_004":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5506c3e38e1671127b00000a_041":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","550f0e4c6a8cde6b72000003_018":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5506c3e38e1671127b00000a_050":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58a57f9460087bc10a00001f_031":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","55421ee7ccca0ce74b000002_042":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","533ea8fcc45e133714000010_014":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","531464a6e3eabad021000014_016":"Mutation of which gene is associated with McLeod syndrome?","5ace238e0340b9f05800000d_009":"Which human chromosome is the product of fusion?","5880aef4c872c95565000001_001":"What is the target of daratumumab?","533be71dfd9a95ea0d000009_005":"Which is the histone residue methylated by MLL1?","5a74b1730384be9551000007_001":"Which retinal dystrophy related gene is targeted by the AAV2-hRPE65v2 drug?","54cb9c94f693c3b16b000005_023":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","52f89fc62059c6d71c000050_004":"From which tissue was the NCI-H520 cell-line derived?","587e2300fc7e8dd84f000004_004":"Which R package could be used for the identification of pediatric brain tumors?","56c079b1ef6e394741000022_009":"Idarucizumab is an antidote of which drug?","5a804f71faa1ab7d2e00001d_001":"Which algorithm is used for detection of long repeat expansions?","531464a6e3eabad021000014_040":"Mutation of which gene is associated with McLeod syndrome?","56cf3f4f3975bb303a000008_001":"Which is the chromosomal location of the gene MAOA?","550f0e4c6a8cde6b72000003_002":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5ace19420340b9f05800000a_020":"Which gene is responsible for red hair?","5895f18ce370baff39000001_003":"Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions?","58aa0c6f396a458e50000008_005":"Which is the \"bonding hormone\"?","56f564f909dd18d46b000009_001":"Which syndrome is associated with mutations in the LYST gene?","54df695b1388e8454a000004_017":"What is the synonym of the lubag disease?","514a0a57d24251bc05000051_024":"Which drug should be used as an antidote in benzodiazepine overdose?","550c3d45a103b78016000008_001":"What is the main component of the Lewy bodies?","5a67c497b750ff4455000012_003":"Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?","52fe58f82059c6d71c00007a_004":"Do archaeal genomes contain one or multiple origins of replication?","550c3d45a103b78016000008_003":"What is the main component of the Lewy bodies?","52b2e498f828ad283c000010_001":"Mutation of which gene is associated with Achondroplasia?","58cdb41302b8c60953000042_013":"What tissue is most affected in Ehlers-Danlos syndromes?","53357193d6d3ac6a34000047_017":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5a67b2f7b750ff445500000f_003":"Which type of urinary incontinence is diagnosed with the Q tip test?","5a896c26fcd1d6a10c000007_010":"In which syndrome is the RPS19 gene most frequently mutated?","58e9e7aa3e8b6dc87c00000d_012":"Which is the major RNA editing enzyme in Drosophila melanogaster?","5a86f074faa1ab7d2e00003a_012":"With which cancers has the loss of SMARCB1 been associated?","56c3184050c68dd416000003_003":"What is the indication for isradipine?","5324a8ac9b2d7acc7e000018_050":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a8980d2fcd1d6a10c00000d_003":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","515db3d8298dcd4e51000015_003":"What is the average diameter of intermediate filaments?","53357ca0d6d3ac6a3400004b_001":"Which enzyme is inhibited by a drug fostamatinib?","5891f9e549702f2e01000002_010":"Willis-Ekbom disease is also known as?","58a32efe60087bc10a000013_035":"What is MRSA?","5ace19420340b9f05800000a_005":"Which gene is responsible for red hair?","56c865d25795f9a73e000016_002":"Which compound is a specific inhibitor for Nox1 and Nox4?","55032e65e9bde69634000034_006":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5a4df811966455904c00000e_014":"Which RNA polymerase II subunit carries RNA cleavage activity?","58b56fe422d3005309000007_006":"Where do the Schwann cells and melanocytes originate from?","52fa6ac72059c6d71c000055_016":"Is the transcriptional regulator BACH1 an activator or a repressor?","52bf1f1303868f1b06000014_009":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","52bf19f703868f1b06000002_004":"What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?","58d906b28acda3452900000d_008":"Where is the TAZ (G4.5) is located in humans?","58dd0dde8acda34529000027_014":"What tissue is commonly affected in Marfan's syndrome","55376f19bc4f83e82800000c_002":"Which is the most common type of pediatric cerebellar tumor?","56c04412ef6e39474100001b_011":"Which molecule is targeted by Daratumumab?","550e828c71445a662f000002_007":"Which molecule is targeted by the drug Gevokizumab?","5890e163621ea6ff7e000004_008":"What is the target of tanezumab?","55032e65e9bde69634000034_007":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5a895f51fcd1d6a10c000004_003":"What is the preferred orientation of CTCF binding sites for chromatin looping?","5a774fdcfaa1ab7d2e000008_019":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","56e0447a51531f7e3300000b_010":"Which are the smallest known subviral pathogens of plants?","5880b073c872c95565000003_022":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","551fd9c06b348bb82c000012_032":"ROSIER scale is used for which disorder?","58a57f9460087bc10a00001f_038":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","56ed0ffe2ac5ed1459000008_004":"Which type of myeloma is ixazomib being evaluated for?","511a3573df1ebcce7d000018_009":"How many tissue kallikrein genes are present in the human genome?","54df695b1388e8454a000004_014":"What is the synonym of the lubag disease?","590c74d170f9fc6f0f00001e_001":"Which gene is the paralog of yeast UPC2?","5a7237672dc08e987e000008_004":"Which drug can be reversed with idarucizumab?","56c58ceeb04e159d0e000004_001":"What is the function of circular RNA?","56c1f01def6e394741000045_011":"Orteronel was developed for treatment of which cancer?","55054f8af73303d458000002_010":"Which bone protein is used in archaelogy for dating and species identification?","550ea8f1b305b40c5c000005_005":"Pridopidine has been tested for treatment of which disorder?","530cefaaad0bf1360c00000d_002":"Which hormone abnormalities are common in Williams syndrome ?","5a774fdcfaa1ab7d2e000008_015":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","589480b47d9090f353000007_002":"Which server is used for simulation of macromolecular diffusional association?","571e14fbbb137a4b0c000001_007":"For which type of diabetes can empagliflozin be used?","589480b47d9090f353000007_004":"Which server is used for simulation of macromolecular diffusional association?","551fd9c06b348bb82c000012_011":"ROSIER scale is used for which disorder?","58f4b25e70f9fc6f0f000011_001":"Hy's law measures failure for what organ?","5a9e202bde7cb99d40000002_002":"Which method is Proseek based on?","5540ca8a0083d1bf0e000003_005":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","5a6f960fb750ff445500005c_001":"Centor criteria are used for which disease?","5aa824a8fcf4565872000002_001":"What is the drug Tecfidera used against?","56c079b1ef6e394741000022_005":"Idarucizumab is an antidote of which drug?","56c04412ef6e39474100001b_001":"Which molecule is targeted by Daratumumab?","5519113b622b19434500000f_024":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","51631154298dcd4e5100004e_017":"What disease is Velcade (bortezomib) mainly used for?","587e07023ec846c24f000001_001":"Which software package is available for the analysis of conserved genomic loci?","54d8fd334b1fd0d33c000005_003":"Rindopepimut is an analog of which growth factor?","5a6e42f1b750ff4455000046_001":"What gene is mutated in Familial Mediterranean Fever?","56b710f276d8bf8d13000003_001":"What is the effect of a defective CLN3 gene?","5890e163621ea6ff7e000004_007":"What is the target of tanezumab?","58d8e6818acda3452900000a_002":"Which gene mutations cause the Marfan syndrome?","58eb9542eda5a57672000007_014":"Which protein is the main marker of Cajal bodies?","5353aedb288f4dae47000006_009":"Which is the transcript responsible for X-chromosome inactivation?","550f0e4c6a8cde6b72000003_021":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","54e0d1491388e8454a000014_007":"Which enzyme is targeted by Evolocumab?","5324bdba9b2d7acc7e00001a_001":"How is bladder wall thickness measured?","58cbb98c02b8c60953000034_009":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5506c3e38e1671127b00000a_023":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","55242d512c8b63434a000006_027":"Which receptors can be evaluated with the [18F]altanserin?","5540ca8a0083d1bf0e000003_010":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","56a39d60496b62f23f000006_002":"Which package is available for analysing genomic interactions in R\/Bioconductor?","5506c3e38e1671127b00000a_006":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5891c90949702f2e01000001_009":"Which tool employs self organizing maps for analyzing synonymous codon usage?","534427f8aeec6fbd07000009_002":"Are most driver gene mutations synonymous or non-synonymous?","53357ca0d6d3ac6a3400004b_002":"Which enzyme is inhibited by a drug fostamatinib?","58a6db8660087bc10a00002c_009":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5506c3e38e1671127b00000a_001":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","55032e65e9bde69634000034_010":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5ace19420340b9f05800000a_002":"Which gene is responsible for red hair?","5519113b622b19434500000f_031":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5890fde5621ea6ff7e000009_003":"Borden classification is used for which disease?","5a6f960fb750ff445500005c_010":"Centor criteria are used for which disease?","550f0e4c6a8cde6b72000003_031":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5a67b2f7b750ff445500000f_006":"Which type of urinary incontinence is diagnosed with the Q tip test?","58eb99f3eda5a57672000009_008":"Do origins of replication close to yeast centromeres fire early or late?","58a32efe60087bc10a000013_030":"What is MRSA?","56bc77a3ac7ad10019000015_010":"RTS S AS01 vaccine was developed to prevent which disease?","56ed03862ac5ed1459000004_015":"Which enzyme does MLN4924 inhibit?","56d1da3b67f0cb3d66000006_004":"How many periods of regulatory innovation led to the evolution of vertebrates?","5a8b1264fcd1d6a10c00001d_004":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","52bf1d2e03868f1b0600000c_001":"Which gene is associated with Muenke syndrome?","5a7346662dc08e987e00001a_002":"What causes \"Puffy hand syndrome\"?","5ace19420340b9f05800000a_039":"Which gene is responsible for red hair?","533be71dfd9a95ea0d000009_009":"Which is the histone residue methylated by MLL1?","58cbb98c02b8c60953000034_033":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","57138eb21174fb175500000a_001":"Which is the protein implicated in Spinocerebellar ataxia type 3?","56c3184050c68dd416000003_005":"What is the indication for isradipine?","54f9cb34dd3fc62544000002_002":"Which protein has been found to interact with phospholamban (PLN) and is also an anti-apoptotic protein?","5880aef4c872c95565000001_021":"What is the target of daratumumab?","5519113b622b19434500000f_030":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5319a7d2b166e2b806000029_001":"Which is the E3 ubiquitin ligase of Hsp90?","58a32efe60087bc10a000013_020":"What is MRSA?","589a246078275d0c4a00002a_015":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5a86f074faa1ab7d2e00003a_013":"With which cancers has the loss of SMARCB1 been associated?","532f55fed6d3ac6a34000036_007":"What is the gene mutated in the Gaucher disease?","531464a6e3eabad021000014_031":"Mutation of which gene is associated with McLeod syndrome?","56c1f021ef6e394741000048_001":"Galassi classification is used for which disorder?","5a7237672dc08e987e000008_002":"Which drug can be reversed with idarucizumab?","5ace12be0340b9f058000007_002":"Which gene is responsible for proper speech development?","514a0a57d24251bc05000051_046":"Which drug should be used as an antidote in benzodiazepine overdose?","51542e44d24251bc05000081_004":"Mutations in which gene determine response to both erlotinib and gefitinib?","56f7c15a09dd18d46b000012_008":"Which gene has been implicated in Majeed Syndrome?","56c04412ef6e39474100001b_025":"Which molecule is targeted by Daratumumab?","5147c8a6d24251bc05000027_002":"Which enzyme is deficient in Krabbe disease?","5519113b622b19434500000f_021":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","56c04412ef6e39474100001b_005":"Which molecule is targeted by Daratumumab?","56bc7d71ac7ad10019000018_004":"Which disease can be treated with Delamanid?","54e0c3e71388e8454a000013_002":"Which enzyme is inhibited by Orteronel?","5ace19420340b9f05800000a_050":"Which gene is responsible for red hair?","5891f9e549702f2e01000002_036":"Willis-Ekbom disease is also known as?","58d8e6818acda3452900000a_009":"Which gene mutations cause the Marfan syndrome?","51596a8ad24251bc0500009e_003":"Where in the cell do we find the protein Cep135?","55421ee7ccca0ce74b000002_045":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","55054f8af73303d458000002_001":"Which bone protein is used in archaelogy for dating and species identification?","54cf45e7f693c3b16b00000a_005":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","56ed03862ac5ed1459000004_009":"Which enzyme does MLN4924 inhibit?","532f55fed6d3ac6a34000036_017":"What is the gene mutated in the Gaucher disease?","55032e65e9bde69634000034_003":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5a67c497b750ff4455000012_006":"Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?","571f33bd0fd6f91b68000003_002":"Which gene is responsible for the development of Sotos syndrome?","533ea8fcc45e133714000010_011":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","55180ef46487737b43000006_003":"What is the typical rash associated with gluten ?","58bfd8e902b8c60953000018_022":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","587e3129c32c812009000002_004":"Which R \/ bioconductor package is used for performing SNP enrichment analysis?","517194ef8ed59a060a000011_001":"Which is the causative agent of malaria?","5889eb503b87a8a73800000b_001":"Which syndrome is caused by deletion of Pds5b in mice?","58a57f9460087bc10a00001f_040":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a67ab79b750ff445500000b_008":"CURB65 score is used for stratification of which disease?","58a57f9460087bc10a00001f_032":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","56c04412ef6e39474100001b_010":"Which molecule is targeted by Daratumumab?","530cefaaad0bf1360c00000d_012":"Which hormone abnormalities are common in Williams syndrome ?","5a7428090384be9551000001_008":"What can be predicted with the Wells criteria?","58cbb98c02b8c60953000034_026":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5324a8ac9b2d7acc7e000018_024":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5ace19420340b9f05800000a_051":"Which gene is responsible for red hair?","5324bdba9b2d7acc7e00001a_008":"How is bladder wall thickness measured?","531464a6e3eabad021000014_027":"Mutation of which gene is associated with McLeod syndrome?","5324a8ac9b2d7acc7e000018_018":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","531464a6e3eabad021000014_051":"Mutation of which gene is associated with McLeod syndrome?","5880e417713cbdfd3d000001_003":"Which disease is treated with ZMapp?","56cb9b065795f9a73e000032_004":"Which kinase is inhibited by Tripolin A?","5891b125621ea6ff7e00000e_007":"Which disease is treated with taliglucerase alfa?","58cbb98c02b8c60953000034_022":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","54f9c40ddd3fc62544000001_014":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","58a32efe60087bc10a000013_025":"What is MRSA?","55180ef46487737b43000006_025":"What is the typical rash associated with gluten ?","5343fc1aaeec6fbd07000003_015":"Which is the gene mutated in type 1 neurofibromatosis?","589480b47d9090f353000007_003":"Which server is used for simulation of macromolecular diffusional association?","5519110f622b19434500000c_005":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","54cb9c94f693c3b16b000005_006":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","56c8f4615795f9a73e00001a_007":"Which genome browser database for DNA shape annotations is available?","58a57f9460087bc10a00001f_028":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","533be71dfd9a95ea0d000009_007":"Which is the histone residue methylated by MLL1?","5a742d620384be9551000002_006":"Which disease risk can be estimated with the Stop-Bang questionnaire?","55421ee7ccca0ce74b000002_041":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","517818508ed59a060a000035_003":"Which is the neurodevelopmental disorder associated to mutations in the X- linked gene mecp2?","54f35ad864850a5854000004_007":"LY450139 is investigational name of which drug?","54cb9c94f693c3b16b000005_010":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5118dd1305c10fae75000001_007":"Is Rheumatoid Arthritis more common in men or women?","54e0c3e71388e8454a000013_008":"Which enzyme is inhibited by Orteronel?","5a9700adfcd1d6a10c00002c_001":"Sclerostin regulates what process?","56c4d14ab04e159d0e000003_003":"Do the Sleeping Beauty or the piggyBac transposons have higher transposition efficiency?","58ea7248eda5a57672000002_001":"What is the phenotype of people carrying mutations in the gene PRDM12?","5ace19420340b9f05800000a_004":"Which gene is responsible for red hair?","5a9700adfcd1d6a10c00002c_002":"Sclerostin regulates what process?","5156be17d24251bc05000086_001":"What disease is mirtazapine predominantly used for?","5a895f51fcd1d6a10c000004_009":"What is the preferred orientation of CTCF binding sites for chromatin looping?","51631154298dcd4e5100004e_007":"What disease is Velcade (bortezomib) mainly used for?","55475dc2f35db75526000001_001":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","52bf1d9e03868f1b06000010_006":"To the ligand of which receptors does Denosumab (Prolia) bind?","589a246078275d0c4a00002a_039":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","55203ae78e534a4535000001_002":"In which condition was protein S100A7 originally identified?","52f89fc62059c6d71c000050_007":"From which tissue was the NCI-H520 cell-line derived?","56bc77a3ac7ad10019000015_001":"RTS S AS01 vaccine was developed to prevent which disease?","5a6d1733b750ff4455000030_002":"Which resource contains accurate enhancer predictions in the developing limb?","54f9c40ddd3fc62544000001_007":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","572096c90fd6f91b6800000e_004":"Which gene is involved in Giant Axonal Neuropathy?","5ace238e0340b9f05800000d_018":"Which human chromosome is the product of fusion?","54f9b74306d9727f76000004_001":"The drug JTV519 is derivative of which group of chemical compounds?","56afe6d40a360a5e45000017_006":"Which tool is used for promoterome mining using CAGE data?","5aae6499fcf456587200000c_004":"What is BORSA?","55032e65e9bde69634000034_014":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5343fc1aaeec6fbd07000003_034":"Which is the gene mutated in type 1 neurofibromatosis?","5a742d620384be9551000002_020":"Which disease risk can be estimated with the Stop-Bang questionnaire?","58eb9542eda5a57672000007_028":"Which protein is the main marker of Cajal bodies?","55032e65e9bde69634000034_009":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","57136a7e1174fb1755000006_003":"How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus?","56f564f909dd18d46b000009_012":"Which syndrome is associated with mutations in the LYST gene?","58eb9542eda5a57672000007_002":"Which protein is the main marker of Cajal bodies?","54e1bdacae9738404b000009_008":"What is generic name of drug Adempas?","58cbb98c02b8c60953000034_014":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","54cb9c94f693c3b16b000005_003":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","54fc91e96ad7dcbc12000001_004":"PBT2 has been tested for which disorder?","589a246078275d0c4a00002a_034":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5880b812c872c95565000006_008":"Which infection can be prevented with Dapivirine?","5547a01cf35db75526000005_002":"In which kingdom do microsporidia belong, according to their current classification scheme?","56c1f01def6e394741000045_006":"Orteronel was developed for treatment of which cancer?","571e12097de986d80d000017_009":"Which protein does empagliflozin inhibit?","5717dbfe7de986d80d000001_014":"What is the functional role of the protein Drp1?","530cefaaad0bf1360c00000d_023":"Which hormone abnormalities are common in Williams syndrome ?","5abcf010fcf4565872000023_010":"What nerve is involved in carpal tunnel syndrome?","5324a8ac9b2d7acc7e000018_053":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58a2e5f760087bc10a000007_013":"Which is the primary protein component of Lewy bodies?","58d8e6818acda3452900000a_057":"Which gene mutations cause the Marfan syndrome?","532366f09b2d7acc7e000015_002":"Which amino acid residue appears mutated in most of the cases reported with  cadasil syndrome?","531464a6e3eabad021000014_022":"Mutation of which gene is associated with McLeod syndrome?","530cefaaad0bf1360c000012_001":"Which deficiency is the cause of restless leg syndrome?","5a7237672dc08e987e000008_009":"Which drug can be reversed with idarucizumab?","5895bc397d9090f35300000b_004":"Mutation of which gene is implicated in the Christianson syndrome?","5880b073c872c95565000003_032":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58b56fe422d3005309000007_005":"Where do the Schwann cells and melanocytes originate from?","5880dba9c872c95565000009_004":"Which enzyme is inhibited by ribociclib?","55192892622b194345000012_002":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","54e0c3e71388e8454a000013_009":"Which enzyme is inhibited by Orteronel?","58a32efe60087bc10a000013_053":"What is MRSA?","5a7237672dc08e987e000008_003":"Which drug can be reversed with idarucizumab?","5343fc1aaeec6fbd07000003_038":"Which is the gene mutated in type 1 neurofibromatosis?","5ace17c30340b9f058000009_002":"Which olfactory gene senses androsterone?","51387022bee46bd34c000002_004":"Which is the process that Conserved noncoding elements mostly regulate?","5a7428090384be9551000001_002":"What can be predicted with the Wells criteria?","56f564f909dd18d46b000009_010":"Which syndrome is associated with mutations in the LYST gene?","5519110f622b19434500000c_003":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","5ab147edfcf4565872000013_008":"The Mantoux test detects what latent infection\/disease?","55032e65e9bde69634000034_019":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","58a6db8660087bc10a00002c_017":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5a68f965b750ff445500001a_001":"Clue cells are characteristics to which causative bacteria of vaginitis?","5149f494d24251bc0500004c_008":"Which medication should be administered when managing patients with suspected acute opioid overdose?","57090c33cf1c325851000013_001":"How many genes are imprinted in the human genome?","56c048acef6e39474100001c_028":"Which enzyme is inhibited by Imetelstat?","56c1f02cef6e39474100004c_003":"GV1001 vaccine targets which enzyme?","52fe58f82059c6d71c00007a_006":"Do archaeal genomes contain one or multiple origins of replication?","56c3184050c68dd416000003_008":"What is the indication for isradipine?","58e75d483e8b6dc87c000005_005":"Which gene controls the expression of GATA-1 isoforms?","58f4b9d470f9fc6f0f000016_008":"What organism causes tularemia?","534427f8aeec6fbd07000009_001":"Are most driver gene mutations synonymous or non-synonymous?","5a68f005b750ff4455000016_010":"Which personality disorder is treated using dialectical behavior therapy?","56c3184050c68dd416000003_002":"What is the indication for isradipine?","5519a7d5622b194345000015_001":"Which is the most abundant membrane protein on Earth?","5a761ac3aacfb9cd4c000002_010":"What is the most common feature of the Doege\u2013Potter syndrome?","51387022bee46bd34c000002_006":"Which is the process that Conserved noncoding elements mostly regulate?","5ace19420340b9f05800000a_012":"Which gene is responsible for red hair?","5880b073c872c95565000003_013":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5abbe429fcf456587200001c_003":"What is the drug target for Eliquis (Apixaban)?","5519a7d5622b194345000015_003":"Which is the most abundant membrane protein on Earth?","587e3129c32c812009000002_008":"Which R \/ bioconductor package is used for performing SNP enrichment analysis?","58af1cb3717cd3f655000003_001":"Which is the main abnormality that arises with Sox9 locus duplication?","589a246078275d0c4a00002a_001":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","56c1f020ef6e394741000047_004":"Which disorder is rated by Palmini classification?","5880aef4c872c95565000001_036":"What is the target of daratumumab?","550342a8f8aee20f27000002_002":"Which is the major symptom of the Doose syndrome?","5ace17c30340b9f058000009_004":"Which olfactory gene senses androsterone?","51542e44d24251bc05000081_001":"Mutations in which gene determine response to both erlotinib and gefitinib?","58e23ec66fddd3e83e000010_004":"What is the genus for the common European honey bee?","54ede28094afd61504000003_004":"What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations?","56e6dfc2edfc094c1f000003_001":"What is apelin?","58cd7fed02b8c6095300003f_001":"What is the function of calcium-sensing receptor (CaSR)?","58bc8e7a02b8c60953000007_005":"What is plantar fasciitis","5314bd7ddae131f847000006_012":"Which hormone receptor function is altered in patients with Donohue syndrome?","5a7237672dc08e987e000008_023":"Which drug can be reversed with idarucizumab?","589a246078275d0c4a00002a_016":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","58a57f9460087bc10a00001f_020":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5313058de3eabad02100000e_006":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","58861d413b87a8a738000002_011":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5a6f853ab750ff4455000055_009":"Which disease can be diagnosed with the \"probe to bone\" test?","5880aef4c872c95565000001_034":"What is the target of daratumumab?","5a774fdcfaa1ab7d2e000008_012":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","54df695b1388e8454a000004_003":"What is the synonym of the lubag disease?","56c04412ef6e39474100001b_016":"Which molecule is targeted by Daratumumab?","56ed03862ac5ed1459000004_013":"Which enzyme does MLN4924 inhibit?","552fac4fbc4f83e828000006_009":"Which fusion protein is involved in the development of Ewing sarcoma?","55032efde9bde69634000035_018":"Which receptor is targeted by telcagepant?","5324a8ac9b2d7acc7e000018_038":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","54d907c84b1fd0d33c000008_004":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","5506c3e38e1671127b00000a_009":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a4df811966455904c00000e_001":"Which RNA polymerase II subunit carries RNA cleavage activity?","58cdb41302b8c60953000042_014":"What tissue is most affected in Ehlers-Danlos syndromes?","589a247078275d0c4a000035_005":"Dinutuximab is used for treatment of which disease?","589185cc621ea6ff7e00000b_005":"Which disease is treated with Nusinersen?","589a246078275d0c4a00002a_037":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","55421ee7ccca0ce74b000002_004":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5a7237672dc08e987e000008_012":"Which drug can be reversed with idarucizumab?","56bc77a3ac7ad10019000015_030":"RTS S AS01 vaccine was developed to prevent which disease?","571f5c150fd6f91b68000009_009":"Which protein is found to be mutated in Friedreich's ataxia?","5343fc1aaeec6fbd07000003_012":"Which is the gene mutated in type 1 neurofibromatosis?","5324a8ac9b2d7acc7e000018_021":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5171438a8ed59a060a000007_013":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","58a57f9460087bc10a00001f_029":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5147c8a6d24251bc05000027_009":"Which enzyme is deficient in Krabbe disease?","5a679e8cb750ff4455000006_002":"Milwaukee protocol was tested for treatment of which disease?","52f89fc62059c6d71c000050_003":"From which tissue was the NCI-H520 cell-line derived?","571f5c150fd6f91b68000009_002":"Which protein is found to be mutated in Friedreich's ataxia?","5a7234352dc08e987e000007_002":"What is the most common histological diagnosis of \"butterfly glioma\"?","54e0c3e71388e8454a000013_005":"Which enzyme is inhibited by Orteronel?","56d1f790f22319765a000001_009":"Which gene harbors the mutation T790M?","550342a8f8aee20f27000002_001":"Which is the major symptom of the Doose syndrome?","5343fc1aaeec6fbd07000003_005":"Which is the gene mutated in type 1 neurofibromatosis?","5a67b2f7b750ff445500000f_009":"Which type of urinary incontinence is diagnosed with the Q tip test?","5880dba9c872c95565000009_007":"Which enzyme is inhibited by ribociclib?","55032efde9bde69634000035_014":"Which receptor is targeted by telcagepant?","58a872bd38c171fb5b000002_001":"Which gene-defect causes the Vel-blood type?","5aa50086d6d6b54f7900000c_001":"Which is the function of ubiquilins?","5519113b622b19434500000f_008":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","514a0a57d24251bc05000051_008":"Which drug should be used as an antidote in benzodiazepine overdose?","56cdf5315795f9a73e000046_002":"Which is the enzyme that degrades decapped mRNAs?","56cdf5315795f9a73e000046_003":"Which is the enzyme that degrades decapped mRNAs?","58cbb98c02b8c60953000034_077":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","51631154298dcd4e5100004e_010":"What disease is Velcade (bortezomib) mainly used for?","5880b812c872c95565000006_002":"Which infection can be prevented with Dapivirine?","56c048acef6e39474100001c_035":"Which enzyme is inhibited by Imetelstat?","54f35ad864850a5854000004_002":"LY450139 is investigational name of which drug?","5506c3e38e1671127b00000a_052":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5880b073c872c95565000003_048":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","589630f378275d0c4a000007_004":"Which enzyme is inhibited by ixazomib?","54e0d1491388e8454a000014_005":"Which enzyme is targeted by Evolocumab?","5ace19420340b9f05800000a_032":"Which gene is responsible for red hair?","531464a6e3eabad021000014_056":"Mutation of which gene is associated with McLeod syndrome?","56c1f01def6e394741000045_013":"Orteronel was developed for treatment of which cancer?","58a2e5f760087bc10a000007_025":"Which is the primary protein component of Lewy bodies?","5313058de3eabad02100000e_001":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","5547a01cf35db75526000005_005":"In which kingdom do microsporidia belong, according to their current classification scheme?","54e0c3e71388e8454a000013_006":"Which enzyme is inhibited by Orteronel?","5880b812c872c95565000006_006":"Which infection can be prevented with Dapivirine?","56c1f01aef6e394741000043_001":"What is targeted by monoclonal antibody Pembrolizumab?","58cbb98c02b8c60953000034_018":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56ae57350a360a5e4500000a_003":"Which is the physiological target for LeuRS translational quality control?","5a7234352dc08e987e000007_003":"What is the most common histological diagnosis of \"butterfly glioma\"?","58eb9542eda5a57672000007_020":"Which protein is the main marker of Cajal bodies?","5a742d620384be9551000002_001":"Which disease risk can be estimated with the Stop-Bang questionnaire?","52b2e409f828ad283c00000e_003":"What disease in Loxapine prominently used for?","571f33bd0fd6f91b68000003_008":"Which gene is responsible for the development of Sotos syndrome?","5a79d0b8faa1ab7d2e00000d_006":"What cellular process are okazaki fragments associated with?","5a68f965b750ff445500001a_003":"Clue cells are characteristics to which causative bacteria of vaginitis?","56ffdc1ccf1c32585100000b_005":"Which is the most common editing modification in eukaryotic mRNA?","56b76f496e3f8eaf4c000002_003":"What does the SAGA complex acronym stands for?","58a2ced760087bc10a000004_001":"Which is the chromosome area that the human gene coding for the dopamine transporter (DAT1) is located to?","5ab147edfcf4565872000013_005":"The Mantoux test detects what latent infection\/disease?","56c048acef6e39474100001c_027":"Which enzyme is inhibited by Imetelstat?","54f1e031c409818c32000001_004":"DX-88 is investigational name of which drug?","5880b073c872c95565000003_017":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58bca2f302b8c6095300000c_001":"What chromosome is affected in Turner's syndrome?","53357193d6d3ac6a34000047_018":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","588f8e9794c1512c50000005_007":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","571e14fbbb137a4b0c000001_006":"For which type of diabetes can empagliflozin be used?","5a6a3464b750ff4455000026_003":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","531464a6e3eabad021000014_059":"Mutation of which gene is associated with McLeod syndrome?","571f5c150fd6f91b68000009_013":"Which protein is found to be mutated in Friedreich's ataxia?","5881f627713cbdfd3d000005_001":"Which technique led to the elucidation of the role of HOXD10 in regulating lymphatic endothelial responses to VEGF-C?","56c1f01def6e394741000045_014":"Orteronel was developed for treatment of which cancer?","56ae57350a360a5e4500000a_002":"Which is the physiological target for LeuRS translational quality control?","5a6a3464b750ff4455000026_005":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","56e0447a51531f7e3300000b_011":"Which are the smallest known subviral pathogens of plants?","58bc8e7a02b8c60953000007_001":"What is plantar fasciitis","5a690487b750ff445500001f_001":"Which virus can be diagnosed with the monospot test?","5891b125621ea6ff7e00000e_003":"Which disease is treated with taliglucerase alfa?","54cb9c94f693c3b16b000005_002":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","53398855d6d3ac6a3400005b_001":"What histone modification is recognized by the bromodomain?","58d8e6818acda3452900000a_050":"Which gene mutations cause the Marfan syndrome?","5a871a6861bb38fb24000009_004":"What disease is the ALK tyrosine kinase associated with?","56ed03862ac5ed1459000004_017":"Which enzyme does MLN4924 inhibit?","56b710f276d8bf8d13000003_003":"What is the effect of a defective CLN3 gene?","56c1f01cef6e394741000044_001":"What is targeted by Palbociclib?","56bc77a3ac7ad10019000015_016":"RTS S AS01 vaccine was developed to prevent which disease?","511a3573df1ebcce7d000018_013":"How many tissue kallikrein genes are present in the human genome?","53189656b166e2b80600001c_003":"Against which protein is the antibody used for immonostaining of Lewy bodies raised?","5710e131a5ed216440000001_017":"In which yeast chromosome does the rDNA cluster reside?","56b710f276d8bf8d13000003_008":"What is the effect of a defective CLN3 gene?","5891f9e549702f2e01000002_022":"Willis-Ekbom disease is also known as?","5891f9e549702f2e01000002_018":"Willis-Ekbom disease is also known as?","54d907c84b1fd0d33c000008_006":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","58a5b1fe60087bc10a000024_003":"What is the role of the UBC9 enzyme in the protein sumoylation pathway?","54df695b1388e8454a000004_009":"What is the synonym of the lubag disease?","5540ca8a0083d1bf0e000003_003":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","56c1f003ef6e394741000039_004":"What molecule is targeted by suvorexant?","56c048acef6e39474100001c_011":"Which enzyme is inhibited by Imetelstat?","572096c90fd6f91b6800000e_007":"Which gene is involved in Giant Axonal Neuropathy?","5891f9e549702f2e01000002_038":"Willis-Ekbom disease is also known as?","58d8e6818acda3452900000a_056":"Which gene mutations cause the Marfan syndrome?","55180ef46487737b43000006_021":"What is the typical rash associated with gluten ?","589630f378275d0c4a000007_002":"Which enzyme is inhibited by ixazomib?","58a57f9460087bc10a00001f_018":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5148691bd24251bc0500002d_002":"Which protein is affected by dusp8 activation?","5a7237672dc08e987e000008_033":"Which drug can be reversed with idarucizumab?","56bc77a3ac7ad10019000015_018":"RTS S AS01 vaccine was developed to prevent which disease?","51631154298dcd4e5100004e_015":"What disease is Velcade (bortezomib) mainly used for?","55376663bc4f83e82800000a_002":"Which biomarker is widely used in the diagnosis of Ewing sarcoma?","5171438a8ed59a060a000007_001":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","56c04412ef6e39474100001b_015":"Which molecule is targeted by Daratumumab?","54d907c84b1fd0d33c000008_009":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","56c048acef6e39474100001c_002":"Which enzyme is inhibited by Imetelstat?","56cae3eb5795f9a73e000021_001":"What is the most likely age of diagnosis of Crohn's disease (CD)?","589317e849702f2e01000005_005":"Which server is used for generating modes of pseudo components of DNA, RNA and protein sequences?","58dd0dde8acda34529000027_010":"What tissue is commonly affected in Marfan's syndrome","56b330bb39c782df06000001_003":"Which R\/bioconductor package is used for integrative genomics visualizations?","56d1f790f22319765a000001_013":"Which gene harbors the mutation T790M?","5a68f448b750ff4455000018_010":"Which bacteria causes erythrasma?","5343fc1aaeec6fbd07000003_042":"Which is the gene mutated in type 1 neurofibromatosis?","58861d413b87a8a738000002_003":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","58a32efe60087bc10a000013_033":"What is MRSA?","5a6f853ab750ff4455000055_007":"Which disease can be diagnosed with the \"probe to bone\" test?","58cbb98c02b8c60953000034_047":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a6f853ab750ff4455000055_004":"Which disease can be diagnosed with the \"probe to bone\" test?","58cdb41302b8c60953000042_021":"What tissue is most affected in Ehlers-Danlos syndromes?","550f0e4c6a8cde6b72000003_016":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","54e0c3e71388e8454a000013_012":"Which enzyme is inhibited by Orteronel?","587f7a69d8d850a152000001_002":"Which library is used for fixed-length approximate string matching?","5a774fdcfaa1ab7d2e000008_006":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","550e828c71445a662f000002_015":"Which molecule is targeted by the drug Gevokizumab?","54f9c40ddd3fc62544000001_006":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","56c865d25795f9a73e000016_001":"Which compound is a specific inhibitor for Nox1 and Nox4?","5ac725250340b9f058000006_005":"Which miRNA is associated with the circular RNA ciRS-7?","54cb9c94f693c3b16b000005_022":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","58cdb41302b8c60953000042_022":"What tissue is most affected in Ehlers-Danlos syndromes?","58a57f9460087bc10a00001f_041":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","587e2300fc7e8dd84f000004_010":"Which R package could be used for the identification of pediatric brain tumors?","56b1f4300a360a5e4500001b_003":"Which peptide plays a pivotal role in human cystatin C fibrillization?","532dcfc9d6d3ac6a34000021_001":"What is the characteristic domain of histone methyltransferases?","56f961b3cf1c325851000003_003":"What is the color of the protein Ranasmurfin?","5a68f965b750ff445500001a_002":"Clue cells are characteristics to which causative bacteria of vaginitis?","56c3184050c68dd416000003_001":"What is the indication for isradipine?","550e828c71445a662f000002_011":"Which molecule is targeted by the drug Gevokizumab?","58a32edd60087bc10a000012_005":"What is Contrave prescribed for?","51387022bee46bd34c000002_005":"Which is the process that Conserved noncoding elements mostly regulate?","5a67b2f7b750ff445500000f_005":"Which type of urinary incontinence is diagnosed with the Q tip test?","5353aedb288f4dae47000006_004":"Which is the transcript responsible for X-chromosome inactivation?","58dd0dde8acda34529000027_011":"What tissue is commonly affected in Marfan's syndrome","5547a01cf35db75526000005_004":"In which kingdom do microsporidia belong, according to their current classification scheme?","5717dbfe7de986d80d000001_001":"What is the functional role of the protein Drp1?","54e0c3e71388e8454a000013_007":"Which enzyme is inhibited by Orteronel?","5a6e24a5b750ff445500003c_006":"Which workflow in Bioconductor has been developed for accessing human RNA-seq samples?","572096c90fd6f91b6800000e_014":"Which gene is involved in Giant Axonal Neuropathy?","56e0447a51531f7e3300000b_007":"Which are the smallest known subviral pathogens of plants?","58e9e7aa3e8b6dc87c00000d_017":"Which is the major RNA editing enzyme in Drosophila melanogaster?","550f0e4c6a8cde6b72000003_022":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","54cb9c94f693c3b16b000005_011":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","511a3573df1ebcce7d000018_006":"How many tissue kallikrein genes are present in the human genome?","52bf19c503868f1b06000001_001":"What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?","5547a01cf35db75526000005_006":"In which kingdom do microsporidia belong, according to their current classification scheme?","5547a01cf35db75526000005_015":"In which kingdom do microsporidia belong, according to their current classification scheme?","58bca2f302b8c6095300000c_003":"What chromosome is affected in Turner's syndrome?","56cf36263975bb303a000007_001":"Which disease has been associated to a disruptive ALX1 protein?","5171438a8ed59a060a000007_014":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","52bf19c503868f1b06000001_003":"What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?","54edf81f94afd61504000014_004":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","5890e163621ea6ff7e000004_005":"What is the target of tanezumab?","55475dc2f35db75526000001_012":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","54df695b1388e8454a000004_015":"What is the synonym of the lubag disease?","5891c90949702f2e01000001_015":"Which tool employs self organizing maps for analyzing synonymous codon usage?","5a76179d83b0d9ea66000021_002":"Which algorithm has been proposed for efficient storage of WGS variant calls?","58e9e7aa3e8b6dc87c00000d_008":"Which is the major RNA editing enzyme in Drosophila melanogaster?","58d8e6818acda3452900000a_049":"Which gene mutations cause the Marfan syndrome?","55054f8af73303d458000002_013":"Which bone protein is used in archaelogy for dating and species identification?","5519113b622b19434500000f_004":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5506c3e38e1671127b00000a_022":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","550618f58e1671127b000007_006":"Which protein is the main inhibitor of protein phosphatase 1 (PP1)?","56d3346cf22319765a000008_001":"What is situs inversus?","58dd0dde8acda34529000027_004":"What tissue is commonly affected in Marfan's syndrome","56ae6e650a360a5e4500000e_008":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","53357ca0d6d3ac6a3400004b_003":"Which enzyme is inhibited by a drug fostamatinib?","52ee9f55c8da898910000009_002":"What is the mode of inheritance of Romano Ward long QT syndrome?","55475dc2f35db75526000001_002":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","56bc751eac7ad10019000013_003":"Name synonym of Acrokeratosis paraneoplastica.","5a7d5ce0faa1ab7d2e00001b_002":"How does increased GDF15 affect body weight?","5a7237672dc08e987e000008_026":"Which drug can be reversed with idarucizumab?","53130a77e3eabad02100000f_001":"Which hormone deficiency is implicated in the Costello syndrome ?","5891f9e549702f2e01000002_001":"Willis-Ekbom disease is also known as?","58a6db8660087bc10a00002c_004":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","56c1f02aef6e39474100004b_004":"Which interleukin is blocked by Siltuximab?","55421ee7ccca0ce74b000002_017":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5543829fed966d112c000009_003":"Which is the major phytoalexin in alfalfa (Medicago sativa L.)?","56d1f790f22319765a000001_002":"Which gene harbors the mutation T790M?","516e7fda298dcd4e51000081_007":"Which is the methyl donor of histone methyltransferases?","58a5b1fe60087bc10a000024_005":"What is the role of the UBC9 enzyme in the protein sumoylation pathway?","5518e7da622b194345000004_010":"Which MAP kinase phosphorylates the transcription factor c-jun?","55421ee7ccca0ce74b000002_040":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5543829fed966d112c000009_001":"Which is the major phytoalexin in alfalfa (Medicago sativa L.)?","588f9950ed9bbee70d000002_008":"Which gene is mutated in the Karak syndrome?","58a2df9c60087bc10a000006_001":"What is the incidence of beta-thalassemia in Greek population?","58bca2f302b8c6095300000c_015":"What chromosome is affected in Turner's syndrome?","58cdb41302b8c60953000042_027":"What tissue is most affected in Ehlers-Danlos syndromes?","56ed0ffe2ac5ed1459000008_007":"Which type of myeloma is ixazomib being evaluated for?","5a679e8cb750ff4455000006_008":"Milwaukee protocol was tested for treatment of which disease?","5506c3e38e1671127b00000a_031":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a885daa61bb38fb24000018_001":"Which is the conserved motif of DEAD box proteins?","5a895f51fcd1d6a10c000004_008":"What is the preferred orientation of CTCF binding sites for chromatin looping?","551fd9c06b348bb82c000012_010":"ROSIER scale is used for which disorder?","56c1f02aef6e39474100004b_002":"Which interleukin is blocked by Siltuximab?","54f9b74306d9727f76000004_019":"The drug JTV519 is derivative of which group of chemical compounds?","51387022bee46bd34c000002_007":"Which is the process that Conserved noncoding elements mostly regulate?","54db62a3034aea571d000001_010":"Which is the main calcium pump of the sarcoplasmic reticulum?","55032efde9bde69634000035_016":"Which receptor is targeted by telcagepant?","589d965a78275d0c4a000049_002":"Which polymerase transcribes pri-miRNAs?","5149f494d24251bc0500004c_005":"Which medication should be administered when managing patients with suspected acute opioid overdose?","533ea8fcc45e133714000010_002":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","5717dbfe7de986d80d000001_012":"What is the functional role of the protein Drp1?","589480b47d9090f353000007_007":"Which server is used for simulation of macromolecular diffusional association?","58a5a51060087bc10a000021_003":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","530f900ee3eabad021000003_016":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","58bfd8e902b8c60953000018_002":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5abbe429fcf456587200001c_002":"What is the drug target for Eliquis (Apixaban)?","52eea4dcc8da89891000000c_002":"What is the mode of inheritance of  long QT  Jervell and Lange-Nielsen syndrome?","55376f19bc4f83e82800000c_004":"Which is the most common type of pediatric cerebellar tumor?","5324a8ac9b2d7acc7e000018_042":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5ace19420340b9f05800000a_033":"Which gene is responsible for red hair?","53357193d6d3ac6a34000047_007":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","530cf4e0c8a0b4a00c000006_002":"Which is the most common cause of sudden cardiac death in young athletes?","56b7083376d8bf8d13000001_005":"What is the causative agent of the \"Panama disease\" affecting bananas?","5ace19420340b9f05800000a_047":"Which gene is responsible for red hair?","52fe58f82059c6d71c00007a_009":"Do archaeal genomes contain one or multiple origins of replication?","589d965a78275d0c4a000049_015":"Which polymerase transcribes pri-miRNAs?","5314bd7ddae131f847000006_002":"Which hormone receptor function is altered in patients with Donohue syndrome?","587e2300fc7e8dd84f000004_013":"Which R package could be used for the identification of pediatric brain tumors?","5353aedb288f4dae47000006_032":"Which is the transcript responsible for X-chromosome inactivation?","55180ef46487737b43000006_007":"What is the typical rash associated with gluten ?","58f4b1a170f9fc6f0f000010_001":"Which mushroom is poisonous, Amanita phalloides or Agaricus Bisporus","554356d0ed966d112c000005_004":"Which is the most common measure of differences between dinucleotide relative abundance \"genomic signatures\"","5895bc397d9090f35300000b_013":"Mutation of which gene is implicated in the Christianson syndrome?","56ed03862ac5ed1459000004_005":"Which enzyme does MLN4924 inhibit?","56c048acef6e39474100001c_023":"Which enzyme is inhibited by Imetelstat?","58f3ca5c70f9fc6f0f00000d_005":"The pathogen Fusarium graminearum affects what type of plant species?","55421ee7ccca0ce74b000002_012":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","56ed03862ac5ed1459000004_011":"Which enzyme does MLN4924 inhibit?","57136a7e1174fb1755000006_005":"How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus?","54e1bdacae9738404b000009_006":"What is generic name of drug Adempas?","5545186cbf90a13052000002_008":"Which gene strand is targeted by transcription-coupled repair (TCR)?","55032e65e9bde69634000034_020":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","530cefaaad0bf1360c000012_019":"Which deficiency is the cause of restless leg syndrome?","5314bd7ddae131f847000006_001":"Which hormone receptor function is altered in patients with Donohue syndrome?","5a6e42f1b750ff4455000046_005":"What gene is mutated in Familial Mediterranean Fever?","5a4e50b242878bf97d000001_007":"Which topoisomerase is essential in yeast?","5717dbfe7de986d80d000001_019":"What is the functional role of the protein Drp1?","5543829fed966d112c000009_004":"Which is the major phytoalexin in alfalfa (Medicago sativa L.)?","5a742d620384be9551000002_005":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5519113b622b19434500000f_011":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","514a0a57d24251bc05000051_003":"Which drug should be used as an antidote in benzodiazepine overdose?","58e75d483e8b6dc87c000005_001":"Which gene controls the expression of GATA-1 isoforms?","5545186cbf90a13052000002_016":"Which gene strand is targeted by transcription-coupled repair (TCR)?","58a2e5f760087bc10a000007_022":"Which is the primary protein component of Lewy bodies?","5343fc1aaeec6fbd07000003_031":"Which is the gene mutated in type 1 neurofibromatosis?","52b2e409f828ad283c00000e_004":"What disease in Loxapine prominently used for?","55032e65e9bde69634000034_013":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","51bdd9c2047fa84d1d000002_001":"Which is the receptor for substrates of Chaperone Mediated Autophagy?","571f33bd0fd6f91b68000003_004":"Which gene is responsible for the development of Sotos syndrome?","5ad6e431133db5eb7800000e_003":"Which test is used for the definition of colour-blindness?","56c1f01def6e394741000045_008":"Orteronel was developed for treatment of which cancer?","5a68f005b750ff4455000016_011":"Which personality disorder is treated using dialectical behavior therapy?","58cbb98c02b8c60953000034_076":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a6f853ab750ff4455000055_013":"Which disease can be diagnosed with the \"probe to bone\" test?","58eb99f3eda5a57672000009_009":"Do origins of replication close to yeast centromeres fire early or late?","5324a8ac9b2d7acc7e000018_007":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56c8f4615795f9a73e00001a_004":"Which genome browser database for DNA shape annotations is available?","550f0e4c6a8cde6b72000003_017":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5880b073c872c95565000003_008":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","56c1f020ef6e394741000047_016":"Which disorder is rated by Palmini classification?","52eea4dcc8da89891000000c_003":"What is the mode of inheritance of  long QT  Jervell and Lange-Nielsen syndrome?","550f0e4c6a8cde6b72000003_005":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5880b073c872c95565000003_047":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","532f55fed6d3ac6a34000036_002":"What is the gene mutated in the Gaucher disease?","533ea8fcc45e133714000010_005":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","5324a8ac9b2d7acc7e000018_045":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","554148c23f2354b713000001_010":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","56c048acef6e39474100001c_018":"Which enzyme is inhibited by Imetelstat?","5ab90a79fcf456587200001b_002":"What drug treatment can cause a spinal epidural hematoma?","5895bc397d9090f35300000b_005":"Mutation of which gene is implicated in the Christianson syndrome?","589185cc621ea6ff7e00000b_016":"Which disease is treated with Nusinersen?","571e2beabb137a4b0c000006_002":"How is OCT3 associated with serotonin?","56ed0ffe2ac5ed1459000008_009":"Which type of myeloma is ixazomib being evaluated for?","5324bdba9b2d7acc7e00001a_004":"How is bladder wall thickness measured?","56c1d857ef6e394741000033_007":"What enzyme is inhibied by Opicapone?","532f55fed6d3ac6a34000036_016":"What is the gene mutated in the Gaucher disease?","517901bc8ed59a060a00003b_002":"The antibodies MK-3475 and CT-011 have shown promising results in treating malignancies. Which protein are they targeting?","5324a8ac9b2d7acc7e000018_034":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a6f960fb750ff445500005c_003":"Centor criteria are used for which disease?","514a0a57d24251bc05000051_016":"Which drug should be used as an antidote in benzodiazepine overdose?","5a76179d83b0d9ea66000021_001":"Which algorithm has been proposed for efficient storage of WGS variant calls?","53357193d6d3ac6a34000047_013":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","51585b28d24251bc0500008d_023":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5880b812c872c95565000006_012":"Which infection can be prevented with Dapivirine?","5a6fa31ab750ff445500005e_001":"Which method has been developed for assignment of enhancers to target genes?","56ffd08bcf1c325851000009_001":"From which sequence does the Alu repeat originate from?","5ab147edfcf4565872000013_001":"The Mantoux test detects what latent infection\/disease?","5a896c26fcd1d6a10c000007_019":"In which syndrome is the RPS19 gene most frequently mutated?","56c1f020ef6e394741000047_007":"Which disorder is rated by Palmini classification?","589a246078275d0c4a00002a_002":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5319ac36b166e2b806000031_001":"Which G protein is essential in the formation and function of lamellipodia?","58d0dc878acda34529000004_003":"Which is the largest metabolic gene cluster in yeast?","56c048acef6e39474100001c_020":"Which enzyme is inhibited by Imetelstat?","55200c606b348bb82c000013_019":"Which clotting factor is inhibited by betrixaban?","52bf1d9e03868f1b06000010_008":"To the ligand of which receptors does Denosumab (Prolia) bind?","5a679e8cb750ff4455000006_011":"Milwaukee protocol was tested for treatment of which disease?","554356d0ed966d112c000005_003":"Which is the most common measure of differences between dinucleotide relative abundance \"genomic signatures\"","56ecfd572ac5ed1459000002_002":"How is oprozomib administered?","54df695b1388e8454a000004_001":"What is the synonym of the lubag disease?","5a6e24a5b750ff445500003c_003":"Which workflow in Bioconductor has been developed for accessing human RNA-seq samples?","5324bdba9b2d7acc7e00001a_003":"How is bladder wall thickness measured?","58a32efe60087bc10a000013_032":"What is MRSA?","58a5a51060087bc10a000021_007":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","58cdb41302b8c60953000042_008":"What tissue is most affected in Ehlers-Danlos syndromes?","531464a6e3eabad021000014_028":"Mutation of which gene is associated with McLeod syndrome?","5880aef4c872c95565000001_018":"What is the target of daratumumab?","551c23bc6b348bb82c00000b_010":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","58bfd8e902b8c60953000018_021":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","56c073fcef6e394741000020_001":"What is the association of spermidine with \u03b1-synuclein neurotoxicity?","56c1f02cef6e39474100004c_005":"GV1001 vaccine targets which enzyme?","5a7428090384be9551000001_003":"What can be predicted with the Wells criteria?","5ace12be0340b9f058000007_010":"Which gene is responsible for proper speech development?","5ac0a36f19833b0d7b000002_001":"What is an exosome?","587e1a01fc7e8dd84f000001_002":"Which annotated database of A-to-I RNA editing is available?","5a7234352dc08e987e000007_008":"What is the most common histological diagnosis of \"butterfly glioma\"?","58cbb98c02b8c60953000034_078":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a6a3335b750ff4455000025_001":"Which algorithm is available for computing minimal absent words using external memory?","58d8e6818acda3452900000a_044":"Which gene mutations cause the Marfan syndrome?","58cbd0d502b8c60953000035_002":"Which mutated gene causes the Ch\u00e9diak\u2013Higashi Syndrome?","5a8b1264fcd1d6a10c00001d_001":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","51585b28d24251bc0500008d_024":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","58cbb98c02b8c60953000034_052":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","53551206a0726bee57000001_005":"What is the major adverse effect of adriamycin(doxorubicin)?","5324bdba9b2d7acc7e00001a_007":"How is bladder wall thickness measured?","5ace19420340b9f05800000a_029":"Which gene is responsible for red hair?","571f5c150fd6f91b68000009_004":"Which protein is found to be mutated in Friedreich's ataxia?","530cefaaad0bf1360c000012_024":"Which deficiency is the cause of restless leg syndrome?","588f9950ed9bbee70d000002_009":"Which gene is mutated in the Karak syndrome?","5880e417713cbdfd3d000001_005":"Which disease is treated with ZMapp?","55421ee7ccca0ce74b000002_003":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5a4df811966455904c00000e_007":"Which RNA polymerase II subunit carries RNA cleavage activity?","5a742d620384be9551000002_015":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5a690487b750ff445500001f_005":"Which virus can be diagnosed with the monospot test?","589d965a78275d0c4a000049_004":"Which polymerase transcribes pri-miRNAs?","5324a8ac9b2d7acc7e000018_049":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","54f9b74306d9727f76000004_004":"The drug JTV519 is derivative of which group of chemical compounds?","588f2de394c1512c50000001_004":"Which R package is used for visualization of linear and circular karyotypes?","58a5b1fe60087bc10a000024_006":"What is the role of the UBC9 enzyme in the protein sumoylation pathway?","5880b812c872c95565000006_007":"Which infection can be prevented with Dapivirine?","551c23bc6b348bb82c00000b_006":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","5149f494d24251bc0500004c_013":"Which medication should be administered when managing patients with suspected acute opioid overdose?","589630f378275d0c4a000007_005":"Which enzyme is inhibited by ixazomib?","5a896c26fcd1d6a10c000007_009":"In which syndrome is the RPS19 gene most frequently mutated?","5a6f960fb750ff445500005c_005":"Centor criteria are used for which disease?","58f4b9d470f9fc6f0f000016_009":"What organism causes tularemia?","55180ef46487737b43000006_015":"What is the typical rash associated with gluten ?","5a761ac3aacfb9cd4c000002_011":"What is the most common feature of the Doege\u2013Potter syndrome?","5319ac99b166e2b806000034_002":"Which is the third subunit of the TSC1-TSC2 complex upstream of mTORC1?","52bf1b0a03868f1b06000009_005":"What is the mode of inheritance of Wilson's disease?","5a72329e2dc08e987e000006_005":"Falciform ligament sign is characteristic to which disease?","58cbd0d502b8c60953000035_001":"Which mutated gene causes the Ch\u00e9diak\u2013Higashi Syndrome?","57136a7e1174fb1755000006_001":"How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus?","5506c3e38e1671127b00000a_028":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","514a0a57d24251bc05000051_044":"Which drug should be used as an antidote in benzodiazepine overdose?","589d965a78275d0c4a000049_012":"Which polymerase transcribes pri-miRNAs?","551fd9c06b348bb82c000012_002":"ROSIER scale is used for which disorder?","58d8e6818acda3452900000a_043":"Which gene mutations cause the Marfan syndrome?","53357193d6d3ac6a34000047_004":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","54e0c3e71388e8454a000013_004":"Which enzyme is inhibited by Orteronel?","572096c90fd6f91b6800000e_015":"Which gene is involved in Giant Axonal Neuropathy?","5314bd7ddae131f847000006_009":"Which hormone receptor function is altered in patients with Donohue syndrome?","5a67ab79b750ff445500000b_005":"CURB65 score is used for stratification of which disease?","531464a6e3eabad021000014_021":"Mutation of which gene is associated with McLeod syndrome?","5118dd1305c10fae75000001_009":"Is Rheumatoid Arthritis more common in men or women?","55475dc2f35db75526000001_010":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","5708a845cf1c32585100000f_002":"Which signaling pathway is activating the dishevelled proteins?","5a6e2b1bb750ff445500003e_002":"Which R\/Bioconductor package has been developed for the analysis of psychiatric disease genes?","5a679e8cb750ff4455000006_009":"Milwaukee protocol was tested for treatment of which disease?","588f9f83ed9bbee70d000004_003":"Viliuisk encephalomyelitis is diagnosed in which geographical area?","551fd9c06b348bb82c000012_029":"ROSIER scale is used for which disorder?","54d907c84b1fd0d33c000008_008":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","5506c3e38e1671127b00000a_043":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","56c3320a50c68dd416000008_001":"What is the incidence of cystic fibrosis in the caucasian population?","5a774fdcfaa1ab7d2e000008_021":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5a72302b2dc08e987e000005_002":"Treatment of which disease was studied in the Gore REDUCE Clinical Study?","5506c3e38e1671127b00000a_021":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","56b1f4300a360a5e4500001b_005":"Which peptide plays a pivotal role in human cystatin C fibrillization?","530cf4c54a5037880c000008_005":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5a79d0b8faa1ab7d2e00000d_010":"What cellular process are okazaki fragments associated with?","58a32efe60087bc10a000013_012":"What is MRSA?","5895bc397d9090f35300000b_021":"Mutation of which gene is implicated in the Christianson syndrome?","590c74d170f9fc6f0f00001e_006":"Which gene is the paralog of yeast UPC2?","572096c90fd6f91b6800000e_001":"Which gene is involved in Giant Axonal Neuropathy?","588f8e9794c1512c50000005_003":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","55180ef46487737b43000006_008":"What is the typical rash associated with gluten ?","589a246078275d0c4a00002a_030":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5519113b622b19434500000f_015":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5a742d620384be9551000002_012":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5519113b622b19434500000f_018":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5335c7f2d6d3ac6a34000051_001":"Inhibition of which transporter is the mechanism of action of drug Canagliflozin?","5880a8ec0a76a87357000001_005":"Which R package is used for the detection of chromosomal abnormalities from microarray data?","5343fc1aaeec6fbd07000003_006":"Which is the gene mutated in type 1 neurofibromatosis?","5880aef4c872c95565000001_020":"What is the target of daratumumab?","5891b125621ea6ff7e00000e_008":"Which disease is treated with taliglucerase alfa?","52b2e409f828ad283c00000e_001":"What disease in Loxapine prominently used for?","5a6900ebb750ff445500001d_005":"Which disease is diagnosed using the Finkelstein's test?","530f900ee3eabad021000003_014":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","58bc5e2202b8c60953000002_009":"Which human disease is associated with mutated UBQLN2","5891b125621ea6ff7e00000e_001":"Which disease is treated with taliglucerase alfa?","550342a8f8aee20f27000002_003":"Which is the major symptom of the Doose syndrome?","5519113b622b19434500000f_017":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5506c3e38e1671127b00000a_029":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a87f44061bb38fb2400000f_001":"Which disorder has been approved for treatment with Alk inhibitors?","58d8e6818acda3452900000a_006":"Which gene mutations cause the Marfan syndrome?","5ac716810340b9f058000003_001":"Name an lncRNA associated with dilated cardiomyopathy.","56b76f496e3f8eaf4c000002_001":"What does the SAGA complex acronym stands for?","5a742d620384be9551000002_018":"Which disease risk can be estimated with the Stop-Bang questionnaire?","54cb9c94f693c3b16b000005_016":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","58f4b25e70f9fc6f0f000011_012":"Hy's law measures failure for what organ?","5a8980d2fcd1d6a10c00000d_007":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","531464a6e3eabad021000014_014":"Mutation of which gene is associated with McLeod syndrome?","589630f378275d0c4a000007_003":"Which enzyme is inhibited by ixazomib?","5a87d73861bb38fb2400000b_001":"Which main ribotype of Clostridium difficile is responsible of the recent outbreak?","589635dd78275d0c4a000009_001":"Which tool is used for the identification of recurrent variants in noncoding regions?","53357193d6d3ac6a34000047_009":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5a79d0b8faa1ab7d2e00000d_003":"What cellular process are okazaki fragments associated with?","54e1bdacae9738404b000009_004":"What is generic name of drug Adempas?","56cdf5195795f9a73e000045_006":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","5ace12be0340b9f058000007_004":"Which gene is responsible for proper speech development?","589185cc621ea6ff7e00000b_002":"Which disease is treated with Nusinersen?","530cefaaad0bf1360c00000d_022":"Which hormone abnormalities are common in Williams syndrome ?","54e0d1491388e8454a000014_003":"Which enzyme is targeted by Evolocumab?","5aae6499fcf456587200000c_001":"What is BORSA?","5519113b622b19434500000f_022":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5a7346662dc08e987e00001a_004":"What causes \"Puffy hand syndrome\"?","56e0447a51531f7e3300000b_008":"Which are the smallest known subviral pathogens of plants?","5ab147edfcf4565872000013_006":"The Mantoux test detects what latent infection\/disease?","589a247078275d0c4a000035_014":"Dinutuximab is used for treatment of which disease?","53440d2caeec6fbd07000004_001":"Is the long non- coding RNA malat-1 up or downregulated in cancer?","5147c088d24251bc05000026_004":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","55180ef46487737b43000006_011":"What is the typical rash associated with gluten ?","56c04412ef6e39474100001b_003":"Which molecule is targeted by Daratumumab?","52c7311903868f1b0600001d_001":"How many different mutations have been associated with Muenke syndrome?","56ed0ffe2ac5ed1459000008_005":"Which type of myeloma is ixazomib being evaluated for?","5a7237672dc08e987e000008_006":"Which drug can be reversed with idarucizumab?","56e0447a51531f7e3300000b_003":"Which are the smallest known subviral pathogens of plants?","589a246078275d0c4a00002a_005":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","56c8f4615795f9a73e00001a_003":"Which genome browser database for DNA shape annotations is available?","55475dc2f35db75526000001_007":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","5324bdba9b2d7acc7e00001a_006":"How is bladder wall thickness measured?","572096c90fd6f91b6800000e_012":"Which gene is involved in Giant Axonal Neuropathy?","589a246078275d0c4a00002a_027":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5519113b622b19434500000f_025":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","56c1f020ef6e394741000047_006":"Which disorder is rated by Palmini classification?","5a7346662dc08e987e00001a_001":"What causes \"Puffy hand syndrome\"?","5519113b622b19434500000f_001":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","58cbb98c02b8c60953000034_031":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","589a247078275d0c4a000035_004":"Dinutuximab is used for treatment of which disease?","5147c088d24251bc05000026_002":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","55421ee7ccca0ce74b000002_034":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5891f9e549702f2e01000002_025":"Willis-Ekbom disease is also known as?","5ad6e431133db5eb7800000e_001":"Which test is used for the definition of colour-blindness?","56c04412ef6e39474100001b_009":"Which molecule is targeted by Daratumumab?","56f7fe3709dd18d46b000015_001":"Which disease is linked to mutations within BRAG1?","5a68f005b750ff4455000016_015":"Which personality disorder is treated using dialectical behavior therapy?","55032e65e9bde69634000034_015":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","56ed0ffe2ac5ed1459000008_015":"Which type of myeloma is ixazomib being evaluated for?","550f0e4c6a8cde6b72000003_024":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58e74bff3e8b6dc87c000004_003":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","589185cc621ea6ff7e00000b_001":"Which disease is treated with Nusinersen?","54f9c40ddd3fc62544000001_001":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","55242d512c8b63434a000006_021":"Which receptors can be evaluated with the [18F]altanserin?","58eb9542eda5a57672000007_005":"Which protein is the main marker of Cajal bodies?","533ea8fcc45e133714000010_020":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","530c7f52970c65fa6b000010_001":"Oxantel is used for periodontitis treatment. How does it work?","5717dbfe7de986d80d000001_005":"What is the functional role of the protein Drp1?","5518e7da622b194345000004_011":"Which MAP kinase phosphorylates the transcription factor c-jun?","56f564f909dd18d46b000009_005":"Which syndrome is associated with mutations in the LYST gene?","5a70e4b399e2c3af26000008_002":"Glecaprevir and Pibrentasvir are used for tratment of which disease?","58adc1ff9ef3c34033000006_005":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","56c3320a50c68dd416000008_002":"What is the incidence of cystic fibrosis in the caucasian population?","5324ce779b2d7acc7e00001e_002":"Which drug is considered as the first line treatment of fibromyalgia?","5353aedb288f4dae47000006_003":"Which is the transcript responsible for X-chromosome inactivation?","56b710f276d8bf8d13000003_002":"What is the effect of a defective CLN3 gene?","58c27b7102b8c60953000021_002":"Which effects create neighborhoods of transcriptional regulation in eukaryotes?","58adc1ff9ef3c34033000006_002":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","5506c3e38e1671127b00000a_036":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5895bc397d9090f35300000b_001":"Mutation of which gene is implicated in the Christianson syndrome?","54f9b74306d9727f76000004_015":"The drug JTV519 is derivative of which group of chemical compounds?","5a6900ebb750ff445500001d_004":"Which disease is diagnosed using the Finkelstein's test?","54f9cb34dd3fc62544000002_006":"Which protein has been found to interact with phospholamban (PLN) and is also an anti-apoptotic protein?","5a68f005b750ff4455000016_017":"Which personality disorder is treated using dialectical behavior therapy?","5157539ed24251bc0500008a_001":"Gene silencing can be achieved by RNA interference (RNAi) in eukaryotic organisms. What is the name of the analogous process in prokaryotic organisms?","531464a6e3eabad021000014_038":"Mutation of which gene is associated with McLeod syndrome?","58a5a51060087bc10a000021_006":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5540b9800083d1bf0e000002_008":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","53357193d6d3ac6a34000047_025":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","54f1e031c409818c32000001_008":"DX-88 is investigational name of which drug?","58da1aa08acda34529000012_001":"Which protein is associated with hyperemesis gravidarum during pregrancy?","571f5c150fd6f91b68000009_018":"Which protein is found to be mutated in Friedreich's ataxia?","56b710f276d8bf8d13000003_004":"What is the effect of a defective CLN3 gene?","5ace19420340b9f05800000a_006":"Which gene is responsible for red hair?","58cdb41302b8c60953000042_010":"What tissue is most affected in Ehlers-Danlos syndromes?","5147c088d24251bc05000026_001":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","5891c90949702f2e01000001_003":"Which tool employs self organizing maps for analyzing synonymous codon usage?","5506c3e38e1671127b00000a_025":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","571e40a8bb137a4b0c000009_005":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","55032efde9bde69634000035_017":"Which receptor is targeted by telcagepant?","58eb99f3eda5a57672000009_001":"Do origins of replication close to yeast centromeres fire early or late?","532206819b2d7acc7e00000f_001":"Name a method for enrichment of arginine-methylated peptides.","5319ac99b166e2b806000034_001":"Which is the third subunit of the TSC1-TSC2 complex upstream of mTORC1?","5a896c26fcd1d6a10c000007_008":"In which syndrome is the RPS19 gene most frequently mutated?","56c1f020ef6e394741000047_002":"Which disorder is rated by Palmini classification?","54fc99f36ad7dcbc12000004_005":"Neurostimulation of which nucleus is used for treatment of dystonia?","55376f19bc4f83e82800000c_007":"Which is the most common type of pediatric cerebellar tumor?","5a761ac3aacfb9cd4c000002_007":"What is the most common feature of the Doege\u2013Potter syndrome?","55242d512c8b63434a000006_015":"Which receptors can be evaluated with the [18F]altanserin?","5880e417713cbdfd3d000001_004":"Which disease is treated with ZMapp?","52fa6ac72059c6d71c000055_013":"Is the transcriptional regulator BACH1 an activator or a repressor?","515db3d8298dcd4e51000015_001":"What is the average diameter of intermediate filaments?","58cbd0d502b8c60953000035_003":"Which mutated gene causes the Ch\u00e9diak\u2013Higashi Syndrome?","5a8b1264fcd1d6a10c00001d_014":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","58f3ca5c70f9fc6f0f00000d_004":"The pathogen Fusarium graminearum affects what type of plant species?","5a6e2578b750ff445500003d_002":"Which package in Bioconductor has been developed with the aim to analyze differential DNA loops from sequencing data?","52f21b722059c6d71c00000b_002":"What is the usual HER-2 status in breast cancer associated with Li-Fraumeni syndrome?","5ace19420340b9f05800000a_036":"Which gene is responsible for red hair?","550f0e4c6a8cde6b72000003_026":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","54cf45e7f693c3b16b00000a_002":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","52bf1b0a03868f1b06000009_001":"What is the mode of inheritance of Wilson's disease?","5ace19420340b9f05800000a_034":"Which gene is responsible for red hair?","587e0116ae05ffb474000002_008":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","58cbb98c02b8c60953000034_029":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","58e9f0ba3e8b6dc87c00000e_001":"Which bacterium has the smallest genome in base pairs yet found?","571e12097de986d80d000017_011":"Which protein does empagliflozin inhibit?","5a67c497b750ff4455000012_004":"Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?","56cb9b065795f9a73e000032_003":"Which kinase is inhibited by Tripolin A?","589480b47d9090f353000007_005":"Which server is used for simulation of macromolecular diffusional association?","550e828c71445a662f000002_009":"Which molecule is targeted by the drug Gevokizumab?","5a68f448b750ff4455000018_014":"Which bacteria causes erythrasma?","5ace12be0340b9f058000007_001":"Which gene is responsible for proper speech development?","5324a8ac9b2d7acc7e000018_029":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5880dba9c872c95565000009_002":"Which enzyme is inhibited by ribociclib?","5a7234352dc08e987e000007_001":"What is the most common histological diagnosis of \"butterfly glioma\"?","5880b073c872c95565000003_042":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","56c8274f5795f9a73e00000d_003":"Which type of cells is affected in Amyotrophic Lateral Sclerosis?","58cbb98c02b8c60953000034_044":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56cb9b065795f9a73e000032_001":"Which kinase is inhibited by Tripolin A?","5ace12be0340b9f058000007_016":"Which gene is responsible for proper speech development?","53124bdae3eabad02100000b_011":"Which is the molecular target of the immunosuppressant drug Rapamycin?","5710a592cf1c32585100002a_009":"Which metabolite activates AtxA?","5149f494d24251bc0500004c_012":"Which medication should be administered when managing patients with suspected acute opioid overdose?","588f2de394c1512c50000001_001":"Which R package is used for visualization of linear and circular karyotypes?","56cdf5195795f9a73e000045_001":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","554148c23f2354b713000001_011":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","56c048acef6e39474100001c_017":"Which enzyme is inhibited by Imetelstat?","56d860ad51531f7e33000002_008":"Which syndrome is NHE6 associated with?","53262cdcd6d3ac6a34000003_004":"What is the definitive treatment for low pressure headache?","589185cc621ea6ff7e00000b_009":"Which disease is treated with Nusinersen?","58edf567eda5a57672000011_005":"How many genes constitute the DosR regulon, controlled by the dormancy survival regulator (DosR) in Mycobacterium tuberculosis?","5891f9e549702f2e01000002_002":"Willis-Ekbom disease is also known as?","55054f8af73303d458000002_018":"Which bone protein is used in archaelogy for dating and species identification?","5a86f074faa1ab7d2e00003a_014":"With which cancers has the loss of SMARCB1 been associated?","5880b812c872c95565000006_011":"Which infection can be prevented with Dapivirine?","55421ee7ccca0ce74b000002_036":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5710e131a5ed216440000001_012":"In which yeast chromosome does the rDNA cluster reside?","58a32efe60087bc10a000013_031":"What is MRSA?","589a247078275d0c4a000035_012":"Dinutuximab is used for treatment of which disease?","5540ca8a0083d1bf0e000003_009":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","550618f58e1671127b000007_001":"Which protein is the main inhibitor of protein phosphatase 1 (PP1)?","58d8e6818acda3452900000a_039":"Which gene mutations cause the Marfan syndrome?","5343caffaeec6fbd07000002_006":"Which is the human selenoprotein that contains several Se-Cys residues?","58cbb98c02b8c60953000034_051":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","58cd7af402b8c6095300003e_001":"What is the aim of the TRAP assay?","54df695b1388e8454a000004_007":"What is the synonym of the lubag disease?","52f350042059c6d71c000010_001":"What is the incidence of Edwards syndrom in the european population?","58a57f9460087bc10a00001f_007":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","56ed0ffe2ac5ed1459000008_010":"Which type of myeloma is ixazomib being evaluated for?","55054f8af73303d458000002_012":"Which bone protein is used in archaelogy for dating and species identification?","5547a01cf35db75526000005_016":"In which kingdom do microsporidia belong, according to their current classification scheme?","54f2210164850a5854000001_001":"How many disulfide bridges has the protein hepcidin got?","5a6e3155b750ff445500003f_005":"Which R\/Bioconductor package has been developed for cancer subtype identification?","58a2e5f760087bc10a000007_004":"Which is the primary protein component of Lewy bodies?","5324a8ac9b2d7acc7e000018_006":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","531464a6e3eabad021000014_055":"Mutation of which gene is associated with McLeod syndrome?","54d8fd334b1fd0d33c000005_004":"Rindopepimut is an analog of which growth factor?","58cbb98c02b8c60953000034_002":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a742d620384be9551000002_016":"Which disease risk can be estimated with the Stop-Bang questionnaire?","53357193d6d3ac6a34000047_014":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","58cbb98c02b8c60953000034_017":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","589a247078275d0c4a000035_021":"Dinutuximab is used for treatment of which disease?","58cbb98c02b8c60953000034_007":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56c1f01def6e394741000045_003":"Orteronel was developed for treatment of which cancer?","58eb99f3eda5a57672000009_002":"Do origins of replication close to yeast centromeres fire early or late?","53551206a0726bee57000001_001":"What is the major adverse effect of adriamycin(doxorubicin)?","514a0a57d24251bc05000051_033":"Which drug should be used as an antidote in benzodiazepine overdose?","56f780cb09dd18d46b000011_001":"Which is the target protein of the drug nivolumab?","5a896c26fcd1d6a10c000007_001":"In which syndrome is the RPS19 gene most frequently mutated?","58a32efe60087bc10a000013_007":"What is MRSA?","58bc5e2202b8c60953000002_004":"Which human disease is associated with mutated UBQLN2","551c23bc6b348bb82c00000b_003":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","56a39d60496b62f23f000006_003":"Which package is available for analysing genomic interactions in R\/Bioconductor?","58b6978822d300530900000a_006":"Which disease the London mutation involved in?","511a3573df1ebcce7d000018_002":"How many tissue kallikrein genes are present in the human genome?","58d8e6818acda3452900000a_021":"Which gene mutations cause the Marfan syndrome?","5ad6e431133db5eb7800000e_002":"Which test is used for the definition of colour-blindness?","571f5c150fd6f91b68000009_019":"Which protein is found to be mutated in Friedreich's ataxia?","532dcfc9d6d3ac6a34000021_012":"What is the characteristic domain of histone methyltransferases?","5880b073c872c95565000003_033":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58f4b25e70f9fc6f0f000011_004":"Hy's law measures failure for what organ?","550618f58e1671127b000007_005":"Which protein is the main inhibitor of protein phosphatase 1 (PP1)?","58dd0dde8acda34529000027_007":"What tissue is commonly affected in Marfan's syndrome","58bfd8e902b8c60953000018_016":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","58d0dc878acda34529000004_001":"Which is the largest metabolic gene cluster in yeast?","54db62a3034aea571d000001_007":"Which is the main calcium pump of the sarcoplasmic reticulum?","56c1f045ef6e394741000058_003":"Selexipag is used for which disease?","5343fc1aaeec6fbd07000003_002":"Which is the gene mutated in type 1 neurofibromatosis?","56c58f1b5795f9a73e000001_001":"Which species of bacteria did the mitochondria originate from?","5895bc397d9090f35300000b_009":"Mutation of which gene is implicated in the Christianson syndrome?","534427f8aeec6fbd07000009_003":"Are most driver gene mutations synonymous or non-synonymous?","54cb9c94f693c3b16b000005_014":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","531464a6e3eabad021000014_042":"Mutation of which gene is associated with McLeod syndrome?","54f1e031c409818c32000001_007":"DX-88 is investigational name of which drug?","56c1f020ef6e394741000047_015":"Which disorder is rated by Palmini classification?","5880a8ec0a76a87357000001_003":"Which R package is used for the detection of chromosomal abnormalities from microarray data?","55242d512c8b63434a000006_016":"Which receptors can be evaluated with the [18F]altanserin?","5324a8ac9b2d7acc7e000018_063":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56bb621fac7ad10019000009_001":"What causes Katayama Fever?","5880b073c872c95565000003_046":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","530cefaaad0bf1360c000012_020":"Which deficiency is the cause of restless leg syndrome?","5314bd7ddae131f847000006_004":"Which hormone receptor function is altered in patients with Donohue syndrome?","5880b073c872c95565000003_010":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5148691bd24251bc0500002d_004":"Which protein is affected by dusp8 activation?","58dd0dde8acda34529000027_013":"What tissue is commonly affected in Marfan's syndrome","533ea8fcc45e133714000010_010":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","58aa0c6f396a458e50000008_001":"Which is the \"bonding hormone\"?","550f0e4c6a8cde6b72000003_025":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","512d0e635274a5fb07000005_002":"Which is the most widely used anti-TNF drug?","58a32edd60087bc10a000012_002":"What is Contrave prescribed for?","550ea8f1b305b40c5c000005_007":"Pridopidine has been tested for treatment of which disorder?","5a896c26fcd1d6a10c000007_018":"In which syndrome is the RPS19 gene most frequently mutated?","5147c8a6d24251bc05000027_016":"Which enzyme is deficient in Krabbe disease?","532ff917d6d3ac6a34000038_002":"What histone trimethylation has been associated to RNA splicing?","56ed0ffe2ac5ed1459000008_003":"Which type of myeloma is ixazomib being evaluated for?","54cf45e7f693c3b16b00000a_009":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","5ace37d50340b9f058000011_017":"Which is the main reason for the increase in the incidence of cryptococcal disease?","56bc77a3ac7ad10019000015_019":"RTS S AS01 vaccine was developed to prevent which disease?","5880b073c872c95565000003_041":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58a5a51060087bc10a000021_001":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5ab90a79fcf456587200001b_004":"What drug treatment can cause a spinal epidural hematoma?","55242d512c8b63434a000006_002":"Which receptors can be evaluated with the [18F]altanserin?","5a74e9ad0384be955100000a_005":"What is a SERM?","56d1f790f22319765a000001_005":"Which gene harbors the mutation T790M?","55192892622b194345000012_009":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","5891f9e549702f2e01000002_004":"Willis-Ekbom disease is also known as?","58a32efe60087bc10a000013_057":"What is MRSA?","532f55fed6d3ac6a34000036_003":"What is the gene mutated in the Gaucher disease?","56d19a363975bb303a000017_001":"Which factor interacts with Treslin\/TICRR throughout the cell cycle of human cells?","54db62a3034aea571d000001_005":"Which is the main calcium pump of the sarcoplasmic reticulum?","531464a6e3eabad021000014_049":"Mutation of which gene is associated with McLeod syndrome?","58a2e5f760087bc10a000007_010":"Which is the primary protein component of Lewy bodies?","54f9c40ddd3fc62544000001_003":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5a4e50b242878bf97d000001_002":"Which topoisomerase is essential in yeast?","55421ee7ccca0ce74b000002_013":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5abbe429fcf456587200001c_006":"What is the drug target for Eliquis (Apixaban)?","56c1d857ef6e394741000033_002":"What enzyme is inhibied by Opicapone?","58adc1ff9ef3c34033000006_004":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","54cf7051f693c3b16b000013_005":"Treatment of which disease was investigated in the MR CLEAN study?","588f9f83ed9bbee70d000004_004":"Viliuisk encephalomyelitis is diagnosed in which geographical area?","55180ef46487737b43000006_009":"What is the typical rash associated with gluten ?","53357193d6d3ac6a34000047_027":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5519113b622b19434500000f_028":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5a6e2578b750ff445500003d_001":"Which package in Bioconductor has been developed with the aim to analyze differential DNA loops from sequencing data?","53262cdcd6d3ac6a34000003_001":"What is the definitive treatment for low pressure headache?","531464a6e3eabad021000014_023":"Mutation of which gene is associated with McLeod syndrome?","5880dba9c872c95565000009_005":"Which enzyme is inhibited by ribociclib?","5a7237672dc08e987e000008_029":"Which drug can be reversed with idarucizumab?","5506c3e38e1671127b00000a_014":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","53262cdcd6d3ac6a34000003_005":"What is the definitive treatment for low pressure headache?","58cdb41302b8c60953000042_024":"What tissue is most affected in Ehlers-Danlos syndromes?","56d19a363975bb303a000017_002":"Which factor interacts with Treslin\/TICRR throughout the cell cycle of human cells?","5880aef4c872c95565000001_007":"What is the target of daratumumab?","5a8980d2fcd1d6a10c00000d_004":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","5a4df811966455904c00000e_006":"Which RNA polymerase II subunit carries RNA cleavage activity?","58eb9542eda5a57672000007_008":"Which protein is the main marker of Cajal bodies?","5324a8ac9b2d7acc7e000018_019":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","532dcfc9d6d3ac6a34000021_020":"What is the characteristic domain of histone methyltransferases?","517901bc8ed59a060a00003b_001":"The antibodies MK-3475 and CT-011 have shown promising results in treating malignancies. Which protein are they targeting?","58d8e6818acda3452900000a_045":"Which gene mutations cause the Marfan syndrome?","5a9e202bde7cb99d40000002_001":"Which method is Proseek based on?","54fc91e96ad7dcbc12000001_005":"PBT2 has been tested for which disorder?","551fd9c06b348bb82c000012_007":"ROSIER scale is used for which disorder?","56c1f020ef6e394741000047_013":"Which disorder is rated by Palmini classification?","5ace19420340b9f05800000a_043":"Which gene is responsible for red hair?","52bf1f2d03868f1b06000015_002":"Which drug is benserazide usually co-administered with?","58cdb41302b8c60953000042_017":"What tissue is most affected in Ehlers-Danlos syndromes?","58e23ec66fddd3e83e000010_001":"What is the genus for the common European honey bee?","5abbe429fcf456587200001c_001":"What is the drug target for Eliquis (Apixaban)?","5880c42fc872c95565000008_001":"Which disease is treated with semaglutide?","511a3573df1ebcce7d000018_007":"How many tissue kallikrein genes are present in the human genome?","5a895f51fcd1d6a10c000004_006":"What is the preferred orientation of CTCF binding sites for chromatin looping?","54df695b1388e8454a000004_002":"What is the synonym of the lubag disease?","51651e24298dcd4e51000054_003":"How many genera comprise the Flaviviridae family?","551fd9c06b348bb82c000012_022":"ROSIER scale is used for which disorder?","5ace1a590340b9f05800000b_001":"What percentage of Homo sapiens DNA is of Neanderthal origin?","55180ef46487737b43000006_017":"What is the typical rash associated with gluten ?","58cdb41302b8c60953000042_004":"What tissue is most affected in Ehlers-Danlos syndromes?","56f6c11109dd18d46b00000e_001":"Which is the receptor for the immunosuppressive drug cyclosporin A (CsA)?","56c079b1ef6e394741000022_001":"Idarucizumab is an antidote of which drug?","52bf1f2d03868f1b06000015_001":"Which drug is benserazide usually co-administered with?","5357a6d0f1005d6b58000004_003":"Which is the branch site consensus sequence in U12-dependent introns?","5a6f98e6b750ff445500005d_001":"Which ligament is most commonly injured in dashboard injury?","5314bd7ddae131f847000006_008":"Which hormone receptor function is altered in patients with Donohue syndrome?","571e14fbbb137a4b0c000001_009":"For which type of diabetes can empagliflozin be used?","55203ae78e534a4535000001_001":"In which condition was protein S100A7 originally identified?","531464a6e3eabad021000014_012":"Mutation of which gene is associated with McLeod syndrome?","56ae6e650a360a5e4500000e_004":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","58b6978822d300530900000a_007":"Which disease the London mutation involved in?","52fe58f82059c6d71c00007a_002":"Do archaeal genomes contain one or multiple origins of replication?","56f564f909dd18d46b000009_002":"Which syndrome is associated with mutations in the LYST gene?","514a0a57d24251bc05000051_027":"Which drug should be used as an antidote in benzodiazepine overdose?","54d8ea2c4b1fd0d33c000002_003":"Which is the most prevalent form of arrhythmia worldwide?","51651e24298dcd4e51000054_002":"How many genera comprise the Flaviviridae family?","52fa6ac72059c6d71c000055_005":"Is the transcriptional regulator BACH1 an activator or a repressor?","54f9c40ddd3fc62544000001_004":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","58eb9542eda5a57672000007_004":"Which protein is the main marker of Cajal bodies?","516be1d6298dcd4e5100006a_002":"What is the mode of inheritance of nemaline myopathy?","530cf4c54a5037880c000008_017":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","56c1f03bef6e394741000053_001":"Mutation of which gene is implicated in the Brain-lung-thyroid syndrome?","5343fc1aaeec6fbd07000003_017":"Which is the gene mutated in type 1 neurofibromatosis?","56ecfd572ac5ed1459000002_012":"How is oprozomib administered?","53357193d6d3ac6a34000047_026":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5a6a3335b750ff4455000025_003":"Which algorithm is available for computing minimal absent words using external memory?","589185cc621ea6ff7e00000b_020":"Which disease is treated with Nusinersen?","5a6d08d5b750ff445500002c_001":"Which stapled peptide has been designed to target Ctf4?","5710e131a5ed216440000001_015":"In which yeast chromosome does the rDNA cluster reside?","511a3573df1ebcce7d000018_004":"How many tissue kallikrein genes are present in the human genome?","58eb9542eda5a57672000007_018":"Which protein is the main marker of Cajal bodies?","58f4b25e70f9fc6f0f000011_006":"Hy's law measures failure for what organ?","571f33bd0fd6f91b68000003_013":"Which gene is responsible for the development of Sotos syndrome?","588f9950ed9bbee70d000002_003":"Which gene is mutated in the Karak syndrome?","5a76179d83b0d9ea66000021_004":"Which algorithm has been proposed for efficient storage of WGS variant calls?","5891b125621ea6ff7e00000e_002":"Which disease is treated with taliglucerase alfa?","54fc99f36ad7dcbc12000004_003":"Neurostimulation of which nucleus is used for treatment of dystonia?","5710a592cf1c32585100002a_001":"Which metabolite activates AtxA?","533ea8fcc45e133714000010_003":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","5891c90949702f2e01000001_016":"Which tool employs self organizing maps for analyzing synonymous codon usage?","54f1e031c409818c32000001_003":"DX-88 is investigational name of which drug?","56c04412ef6e39474100001b_028":"Which molecule is targeted by Daratumumab?","589a246078275d0c4a00002a_040":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","55054f8af73303d458000002_002":"Which bone protein is used in archaelogy for dating and species identification?","58bca2f302b8c6095300000c_009":"What chromosome is affected in Turner's syndrome?","532498959b2d7acc7e000017_001":"Which enzyme is targeted by the drug Imetelstat?","54ff45966ad7dcbc12000010_006":"Which protein is causing Netherton syndrome?","52c7275103868f1b0600001c_001":"What is the inheritance pattern of Apert syndrome?","56bc751eac7ad10019000013_004":"Name synonym of Acrokeratosis paraneoplastica.","54cf7051f693c3b16b000013_002":"Treatment of which disease was investigated in the MR CLEAN study?","52bf1d9e03868f1b06000010_013":"To the ligand of which receptors does Denosumab (Prolia) bind?","530cefaaad0bf1360c000012_010":"Which deficiency is the cause of restless leg syndrome?","56bc751eac7ad10019000013_006":"Name synonym of Acrokeratosis paraneoplastica.","56bc77a3ac7ad10019000015_017":"RTS S AS01 vaccine was developed to prevent which disease?","56e0447a51531f7e3300000b_013":"Which are the smallest known subviral pathogens of plants?","5880a8ec0a76a87357000001_001":"Which R package is used for the detection of chromosomal abnormalities from microarray data?","54d649843706e89528000009_002":"What is the target of the drug Olaparib?","5505a587f73303d458000005_005":"What does mTOR stands for?","5884c72fe56acf517600000f_001":"What molecule is targeted by Avelumab?","5545186cbf90a13052000002_006":"Which gene strand is targeted by transcription-coupled repair (TCR)?","58cdb41302b8c60953000042_005":"What tissue is most affected in Ehlers-Danlos syndromes?","5ace37d50340b9f058000011_003":"Which is the main reason for the increase in the incidence of cryptococcal disease?","5353aedb288f4dae47000006_027":"Which is the transcript responsible for X-chromosome inactivation?","58eb9542eda5a57672000007_023":"Which protein is the main marker of Cajal bodies?","5a6a3464b750ff4455000026_009":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","5a68f005b750ff4455000016_019":"Which personality disorder is treated using dialectical behavior therapy?","58b6978822d300530900000a_005":"Which disease the London mutation involved in?","5880aef4c872c95565000001_010":"What is the target of daratumumab?","58bc5e2202b8c60953000002_001":"Which human disease is associated with mutated UBQLN2","5324bdba9b2d7acc7e00001a_009":"How is bladder wall thickness measured?","551fd9c06b348bb82c000012_008":"ROSIER scale is used for which disorder?","5ace19420340b9f05800000a_007":"Which gene is responsible for red hair?","531464a6e3eabad021000014_030":"Mutation of which gene is associated with McLeod syndrome?","588f2de394c1512c50000001_002":"Which R package is used for visualization of linear and circular karyotypes?","58eb9542eda5a57672000007_015":"Which protein is the main marker of Cajal bodies?","5a742d620384be9551000002_021":"Which disease risk can be estimated with the Stop-Bang questionnaire?","54cf45e7f693c3b16b00000a_001":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","58e9e7aa3e8b6dc87c00000d_004":"Which is the major RNA editing enzyme in Drosophila melanogaster?","54fc91e96ad7dcbc12000001_002":"PBT2 has been tested for which disorder?","51631154298dcd4e5100004e_005":"What disease is Velcade (bortezomib) mainly used for?","55421ee7ccca0ce74b000002_002":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5519113b622b19434500000f_019":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","58a57f9460087bc10a00001f_016":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","516e7fda298dcd4e51000081_004":"Which is the methyl donor of histone methyltransferases?","5a67ab79b750ff445500000b_003":"CURB65 score is used for stratification of which disease?","5891f9e549702f2e01000002_007":"Willis-Ekbom disease is also known as?","5895bc397d9090f35300000b_006":"Mutation of which gene is implicated in the Christianson syndrome?","5890e163621ea6ff7e000004_013":"What is the target of tanezumab?","532f55fed6d3ac6a34000036_010":"What is the gene mutated in the Gaucher disease?","58e74bff3e8b6dc87c000004_002":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","55200c606b348bb82c000013_003":"Which clotting factor is inhibited by betrixaban?","550af222c2af5d5b7000000b_002":"Which is the E3 ubiquitin ligase which ubiquitinates IkB leading to its proteasomal degradation?","56df03c751531f7e3300000a_001":"Which properties of the mRNA does N6-methyladenosine (m6A) affect?","5a7d6287faa1ab7d2e00001c_001":"Which receptor does GDF15 bind?","52bf1f1303868f1b06000014_001":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","5ace19420340b9f05800000a_023":"Which gene is responsible for red hair?","54d649843706e89528000009_006":"What is the target of the drug Olaparib?","552fac4fbc4f83e828000006_004":"Which fusion protein is involved in the development of Ewing sarcoma?","5a774fdcfaa1ab7d2e000008_004":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5540b9800083d1bf0e000002_001":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","55242d512c8b63434a000006_004":"Which receptors can be evaluated with the [18F]altanserin?","5343fc1aaeec6fbd07000003_022":"Which is the gene mutated in type 1 neurofibromatosis?","5880b812c872c95565000006_009":"Which infection can be prevented with Dapivirine?","5343caffaeec6fbd07000002_005":"Which is the human selenoprotein that contains several Se-Cys residues?","54e0d7471388e8454a000015_001":"Which molecule is targeted by a monoclonal antibody Secukinumab?","56bc77a3ac7ad10019000015_025":"RTS S AS01 vaccine was developed to prevent which disease?","5a7237672dc08e987e000008_027":"Which drug can be reversed with idarucizumab?","51631154298dcd4e5100004e_006":"What disease is Velcade (bortezomib) mainly used for?","5a896c26fcd1d6a10c000007_015":"In which syndrome is the RPS19 gene most frequently mutated?","58eb9542eda5a57672000007_011":"Which protein is the main marker of Cajal bodies?","5540b9800083d1bf0e000002_004":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","53398855d6d3ac6a3400005b_002":"What histone modification is recognized by the bromodomain?","56f7c15a09dd18d46b000012_007":"Which gene has been implicated in Majeed Syndrome?","5a761ac3aacfb9cd4c000002_005":"What is the most common feature of the Doege\u2013Potter syndrome?","5895f7e978275d0c4a000001_002":"What fruit causes Jamaican vomiting sickness?","58d906b28acda3452900000d_003":"Where is the TAZ (G4.5) is located in humans?","5a7346662dc08e987e00001a_006":"What causes \"Puffy hand syndrome\"?","589635dd78275d0c4a000009_003":"Which tool is used for the identification of recurrent variants in noncoding regions?","587e2300fc7e8dd84f000004_005":"Which R package could be used for the identification of pediatric brain tumors?","55421ee7ccca0ce74b000002_015":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","56c048acef6e39474100001c_009":"Which enzyme is inhibited by Imetelstat?","5a8b27e6fcd1d6a10c00001e_002":"Which R package has been developed for analyzing Non-invasive prenatal testing (NIPT) data?","56e0447a51531f7e3300000b_012":"Which are the smallest known subviral pathogens of plants?","55054f8af73303d458000002_019":"Which bone protein is used in archaelogy for dating and species identification?","51585b28d24251bc0500008d_010":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","51585b28d24251bc0500008d_014":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5540fbce234c5a7c75000001_003":"Which autophagy pathway is trigered by the KFERQ motif of cytosolic proteins?","5149f494d24251bc0500004c_015":"Which medication should be administered when managing patients with suspected acute opioid overdose?","58a57f9460087bc10a00001f_023":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5881f627713cbdfd3d000005_002":"Which technique led to the elucidation of the role of HOXD10 in regulating lymphatic endothelial responses to VEGF-C?","58a5a51060087bc10a000021_002":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5324a8ac9b2d7acc7e000018_008":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56ffdc1ccf1c32585100000b_004":"Which is the most common editing modification in eukaryotic mRNA?","52bf1b0a03868f1b06000009_004":"What is the mode of inheritance of Wilson's disease?","530cefaaad0bf1360c000012_016":"Which deficiency is the cause of restless leg syndrome?","5343fc1aaeec6fbd07000003_011":"Which is the gene mutated in type 1 neurofibromatosis?","571e2beabb137a4b0c000006_001":"How is OCT3 associated with serotonin?","5518e7da622b194345000004_012":"Which MAP kinase phosphorylates the transcription factor c-jun?","5519110f622b19434500000c_007":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","55032e65e9bde69634000034_005":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5891b125621ea6ff7e00000e_006":"Which disease is treated with taliglucerase alfa?","5a6d196db750ff4455000032_001":"Which resource has been developed in order to study the transcriptional regulation of GABAergic cell fate?","54cb9c94f693c3b16b000005_013":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5a68f005b750ff4455000016_013":"Which personality disorder is treated using dialectical behavior therapy?","532f55fed6d3ac6a34000036_012":"What is the gene mutated in the Gaucher disease?","55180ef46487737b43000006_012":"What is the typical rash associated with gluten ?","54cb9c94f693c3b16b000005_017":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5880b812c872c95565000006_001":"Which infection can be prevented with Dapivirine?","56d1f790f22319765a000001_008":"Which gene harbors the mutation T790M?","554356d0ed966d112c000005_001":"Which is the most common measure of differences between dinucleotide relative abundance \"genomic signatures\"","5518e7da622b194345000004_004":"Which MAP kinase phosphorylates the transcription factor c-jun?","589185cc621ea6ff7e00000b_015":"Which disease is treated with Nusinersen?","56c1f02cef6e39474100004c_004":"GV1001 vaccine targets which enzyme?","550e828c71445a662f000002_012":"Which molecule is targeted by the drug Gevokizumab?","55032efde9bde69634000035_010":"Which receptor is targeted by telcagepant?","533be71dfd9a95ea0d000009_010":"Which is the histone residue methylated by MLL1?","571f5c150fd6f91b68000009_017":"Which protein is found to be mutated in Friedreich's ataxia?","5353aedb288f4dae47000006_011":"Which is the transcript responsible for X-chromosome inactivation?","5ace19420340b9f05800000a_003":"Which gene is responsible for red hair?","531464a6e3eabad021000014_002":"Mutation of which gene is associated with McLeod syndrome?","58a32efe60087bc10a000013_051":"What is MRSA?","58bfd0db02b8c60953000017_001":"Which virus type causes Molluscum contagiosum?","514a0a57d24251bc05000051_035":"Which drug should be used as an antidote in benzodiazepine overdose?","52bf1d9e03868f1b06000010_011":"To the ligand of which receptors does Denosumab (Prolia) bind?","56bb68f9ac7ad1001900000b_002":"What is the cause of Phthiriasis Palpebrarum?","5147c8a6d24251bc05000027_014":"Which enzyme is deficient in Krabbe disease?","5a7617b183b0d9ea66000022_007":"What is inhibited by a drug rilotumumab?","58bfd8e902b8c60953000018_012":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","589a247078275d0c4a000035_007":"Dinutuximab is used for treatment of which disease?","5343fc1aaeec6fbd07000003_009":"Which is the gene mutated in type 1 neurofibromatosis?","533be71dfd9a95ea0d000009_004":"Which is the histone residue methylated by MLL1?","58b56fe422d3005309000007_001":"Where do the Schwann cells and melanocytes originate from?","589185cc621ea6ff7e00000b_026":"Which disease is treated with Nusinersen?","5710e131a5ed216440000001_010":"In which yeast chromosome does the rDNA cluster reside?","5880aef4c872c95565000001_028":"What is the target of daratumumab?","5a67ab79b750ff445500000b_009":"CURB65 score is used for stratification of which disease?","5118dd1305c10fae75000001_003":"Is Rheumatoid Arthritis more common in men or women?","54edf81f94afd61504000014_007":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","58e9e7aa3e8b6dc87c00000d_003":"Which is the major RNA editing enzyme in Drosophila melanogaster?","58bfd8e902b8c60953000018_017":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5a3e8683966455904c000007_001":"Which test is used to diagnose colour synesthesia?","5518e7da622b194345000004_017":"Which MAP kinase phosphorylates the transcription factor c-jun?","589a247078275d0c4a000035_015":"Dinutuximab is used for treatment of which disease?","56c1f003ef6e394741000039_001":"What molecule is targeted by suvorexant?","551c23bc6b348bb82c00000b_001":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","52fa6ac72059c6d71c000055_018":"Is the transcriptional regulator BACH1 an activator or a repressor?","58d8e6818acda3452900000a_051":"Which gene mutations cause the Marfan syndrome?","55192892622b194345000012_008":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","58d8e6818acda3452900000a_035":"Which gene mutations cause the Marfan syndrome?","54f9cb34dd3fc62544000002_001":"Which protein has been found to interact with phospholamban (PLN) and is also an anti-apoptotic protein?","54e0c3e71388e8454a000013_015":"Which enzyme is inhibited by Orteronel?","58861d413b87a8a738000002_001":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5324a8ac9b2d7acc7e000018_003":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","53357ca0d6d3ac6a3400004b_010":"Which enzyme is inhibited by a drug fostamatinib?","56cdf5195795f9a73e000045_002":"Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies?","54cf45e7f693c3b16b00000a_006":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","58e74bff3e8b6dc87c000004_001":"Which class of genes are mutated in Diamond Blackfan Anemia patients?","588f9f83ed9bbee70d000004_001":"Viliuisk encephalomyelitis is diagnosed in which geographical area?","58d8e6818acda3452900000a_023":"Which gene mutations cause the Marfan syndrome?","54f9b74306d9727f76000004_007":"The drug JTV519 is derivative of which group of chemical compounds?","56a24dfffe92d6fd19000002_003":"What is the role of eteplirsen in DMD patients?","5a7877c0faa1ab7d2e00000c_008":"What is the first line treatment for sarcoidosis?","52bf19c503868f1b06000001_006":"What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?","530cf4c54a5037880c000008_003":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5710a592cf1c32585100002a_012":"Which metabolite activates AtxA?","533ea8fcc45e133714000010_012":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","530f900ee3eabad021000003_008":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","5884c72fe56acf517600000f_004":"What molecule is targeted by Avelumab?","552fac4fbc4f83e828000006_006":"Which fusion protein is involved in the development of Ewing sarcoma?","58861d413b87a8a738000002_010":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5139b31dbee46bd34c000004_001":"Which is the most widely used model for the study of multiple sclerosis (MS)?","58a32efe60087bc10a000013_037":"What is MRSA?","58ee0dd5eda5a57672000013_004":"From which cell type is leptin secreted?","536e46f27d100faa09000012_011":"Which is the gene most commonly mutated in Tay-Sachs disease?","52fe58f82059c6d71c00007a_001":"Do archaeal genomes contain one or multiple origins of replication?","58cdb41302b8c60953000042_006":"What tissue is most affected in Ehlers-Danlos syndromes?","5717dbfe7de986d80d000001_002":"What is the functional role of the protein Drp1?","530cf4c54a5037880c000008_010":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","56ffdc1ccf1c32585100000b_008":"Which is the most common editing modification in eukaryotic mRNA?","5880b073c872c95565000003_018":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","54f9b74306d9727f76000004_005":"The drug JTV519 is derivative of which group of chemical compounds?","5343fc1aaeec6fbd07000003_027":"Which is the gene mutated in type 1 neurofibromatosis?","51585b28d24251bc0500008d_003":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","58861d413b87a8a738000002_018":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","58cbb98c02b8c60953000034_037":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","55475dc2f35db75526000001_008":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","5545186cbf90a13052000002_012":"Which gene strand is targeted by transcription-coupled repair (TCR)?","5149f494d24251bc0500004c_011":"Which medication should be administered when managing patients with suspected acute opioid overdose?","56c04412ef6e39474100001b_021":"Which molecule is targeted by Daratumumab?","572096c90fd6f91b6800000e_006":"Which gene is involved in Giant Axonal Neuropathy?","5891f9e549702f2e01000002_017":"Willis-Ekbom disease is also known as?","588f8e9794c1512c50000005_004":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","54df695b1388e8454a000004_018":"What is the synonym of the lubag disease?","58a32efe60087bc10a000013_055":"What is MRSA?","54f9c40ddd3fc62544000001_012":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5149f494d24251bc0500004c_009":"Which medication should be administered when managing patients with suspected acute opioid overdose?","5880b812c872c95565000006_003":"Which infection can be prevented with Dapivirine?","5890e163621ea6ff7e000004_001":"What is the target of tanezumab?","54f9b74306d9727f76000004_010":"The drug JTV519 is derivative of which group of chemical compounds?","532ff917d6d3ac6a34000038_001":"What histone trimethylation has been associated to RNA splicing?","530cf4e0c8a0b4a00c000006_005":"Which is the most common cause of sudden cardiac death in young athletes?","56ffdc1ccf1c32585100000b_001":"Which is the most common editing modification in eukaryotic mRNA?","56bc7d71ac7ad10019000018_006":"Which disease can be treated with Delamanid?","58a644e560087bc10a000027_002":"What is the drug target for Simtuzumab?","5a895f51fcd1d6a10c000004_007":"What is the preferred orientation of CTCF binding sites for chromatin looping?","58d8e6818acda3452900000a_047":"Which gene mutations cause the Marfan syndrome?","58cdb41302b8c60953000042_025":"What tissue is most affected in Ehlers-Danlos syndromes?","58a32efe60087bc10a000013_019":"What is MRSA?","589a247078275d0c4a000035_006":"Dinutuximab is used for treatment of which disease?","58a2e5f760087bc10a000007_009":"Which is the primary protein component of Lewy bodies?","514a0a57d24251bc05000051_047":"Which drug should be used as an antidote in benzodiazepine overdose?","54f9b74306d9727f76000004_009":"The drug JTV519 is derivative of which group of chemical compounds?","58cbb98c02b8c60953000034_043":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5324a8ac9b2d7acc7e000018_032":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","54d649843706e89528000009_009":"What is the target of the drug Olaparib?","5a67ab79b750ff445500000b_006":"CURB65 score is used for stratification of which disease?","51631154298dcd4e5100004e_014":"What disease is Velcade (bortezomib) mainly used for?","56ed03862ac5ed1459000004_007":"Which enzyme does MLN4924 inhibit?","54f9b74306d9727f76000004_017":"The drug JTV519 is derivative of which group of chemical compounds?","56c3184050c68dd416000003_004":"What is the indication for isradipine?","530cf4e0c8a0b4a00c000006_008":"Which is the most common cause of sudden cardiac death in young athletes?","56c1f003ef6e394741000039_003":"What molecule is targeted by suvorexant?","5545186cbf90a13052000002_013":"Which gene strand is targeted by transcription-coupled repair (TCR)?","55242d512c8b63434a000006_013":"Which receptors can be evaluated with the [18F]altanserin?","54d8ea2c4b1fd0d33c000002_004":"Which is the most prevalent form of arrhythmia worldwide?","58adc1ff9ef3c34033000006_014":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","54f9c40ddd3fc62544000001_009":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5540b9800083d1bf0e000002_010":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","5a7877c0faa1ab7d2e00000c_002":"What is the first line treatment for sarcoidosis?","5a6a3464b750ff4455000026_008":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","589a247078275d0c4a000035_003":"Dinutuximab is used for treatment of which disease?","572096c90fd6f91b6800000e_008":"Which gene is involved in Giant Axonal Neuropathy?","533ea8fcc45e133714000010_008":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","53357193d6d3ac6a34000047_019":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5a68f448b750ff4455000018_003":"Which bacteria causes erythrasma?","5a74e9ad0384be955100000a_011":"What is a SERM?","55180ef46487737b43000006_005":"What is the typical rash associated with gluten ?","532dcfc9d6d3ac6a34000021_013":"What is the characteristic domain of histone methyltransferases?","5a690487b750ff445500001f_003":"Which virus can be diagnosed with the monospot test?","587e0116ae05ffb474000002_002":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","58e75d483e8b6dc87c000005_002":"Which gene controls the expression of GATA-1 isoforms?","5353aedb288f4dae47000006_035":"Which is the transcript responsible for X-chromosome inactivation?","54e0d1491388e8454a000014_004":"Which enzyme is targeted by Evolocumab?","58edf567eda5a57672000011_002":"How many genes constitute the DosR regulon, controlled by the dormancy survival regulator (DosR) in Mycobacterium tuberculosis?","58a57f9460087bc10a00001f_001":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","58cbb98c02b8c60953000034_050":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5895f7e978275d0c4a000001_011":"What fruit causes Jamaican vomiting sickness?","53617eeb7d100faa0900000a_001":"What is the name for anorexia in gymnasts?","58a32efe60087bc10a000013_023":"What is MRSA?","532dcfc9d6d3ac6a34000021_005":"What is the characteristic domain of histone methyltransferases?","550ea8f1b305b40c5c000005_006":"Pridopidine has been tested for treatment of which disorder?","58a57f9460087bc10a00001f_037":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","56c04412ef6e39474100001b_002":"Which molecule is targeted by Daratumumab?","530cefaaad0bf1360c000012_018":"Which deficiency is the cause of restless leg syndrome?","5343fc1aaeec6fbd07000003_003":"Which is the gene mutated in type 1 neurofibromatosis?","5a774fdcfaa1ab7d2e000008_008":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5324a8ac9b2d7acc7e000018_048":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5324a8ac9b2d7acc7e000018_028":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a67b2f7b750ff445500000f_008":"Which type of urinary incontinence is diagnosed with the Q tip test?","5a6e2b1bb750ff445500003e_001":"Which R\/Bioconductor package has been developed for the analysis of psychiatric disease genes?","532ff917d6d3ac6a34000038_003":"What histone trimethylation has been associated to RNA splicing?","55054f8af73303d458000002_006":"Which bone protein is used in archaelogy for dating and species identification?","5ace37d50340b9f058000011_012":"Which is the main reason for the increase in the incidence of cryptococcal disease?","571e14fbbb137a4b0c000001_008":"For which type of diabetes can empagliflozin be used?","5a7d5ce0faa1ab7d2e00001b_001":"How does increased GDF15 affect body weight?","589185cc621ea6ff7e00000b_011":"Which disease is treated with Nusinersen?","56bc77a3ac7ad10019000015_011":"RTS S AS01 vaccine was developed to prevent which disease?","5518e7da622b194345000004_019":"Which MAP kinase phosphorylates the transcription factor c-jun?","58e7902b3e8b6dc87c000007_006":"Which is the most common gene signature in Rheumatoid Arthritis patients?","53130a77e3eabad02100000f_004":"Which hormone deficiency is implicated in the Costello syndrome ?","589a247078275d0c4a000035_018":"Dinutuximab is used for treatment of which disease?","5a7237672dc08e987e000008_016":"Which drug can be reversed with idarucizumab?","56bc77a3ac7ad10019000015_033":"RTS S AS01 vaccine was developed to prevent which disease?","56ecfd572ac5ed1459000002_011":"How is oprozomib administered?","55242d512c8b63434a000006_005":"Which receptors can be evaluated with the [18F]altanserin?","58adc1ff9ef3c34033000006_007":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","5324a8ac9b2d7acc7e000018_017":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","514a0a57d24251bc05000051_023":"Which drug should be used as an antidote in benzodiazepine overdose?","5a742d620384be9551000002_003":"Which disease risk can be estimated with the Stop-Bang questionnaire?","5880b073c872c95565000003_037":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5a8980d2fcd1d6a10c00000d_001":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","5a871a6861bb38fb24000009_002":"What disease is the ALK tyrosine kinase associated with?","58861d413b87a8a738000002_014":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","58861d413b87a8a738000002_005":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5a679e8cb750ff4455000006_006":"Milwaukee protocol was tested for treatment of which disease?","589185cc621ea6ff7e00000b_008":"Which disease is treated with Nusinersen?","56c1f01def6e394741000045_002":"Orteronel was developed for treatment of which cancer?","5891f9e549702f2e01000002_032":"Willis-Ekbom disease is also known as?","52bf19f703868f1b06000002_001":"What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?","514a0a57d24251bc05000051_037":"Which drug should be used as an antidote in benzodiazepine overdose?","53357193d6d3ac6a34000047_011":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5545186cbf90a13052000002_021":"Which gene strand is targeted by transcription-coupled repair (TCR)?","58bca2f302b8c6095300000c_011":"What chromosome is affected in Turner's syndrome?","551fd9c06b348bb82c000012_020":"ROSIER scale is used for which disorder?","5324a8ac9b2d7acc7e000018_033":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5ac725250340b9f058000006_002":"Which miRNA is associated with the circular RNA ciRS-7?","51542e44d24251bc05000081_006":"Mutations in which gene determine response to both erlotinib and gefitinib?","58cdb41302b8c60953000042_015":"What tissue is most affected in Ehlers-Danlos syndromes?","554140ad182542114d000003_001":"Which is the database of molecular recognition features in membrane proteins?","5a896c26fcd1d6a10c000007_014":"In which syndrome is the RPS19 gene most frequently mutated?","5a67c497b750ff4455000012_002":"Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?","5880be1dc872c95565000007_001":"Which enzyme is inhibited by niraparib?","5314bd7ddae131f847000006_005":"Which hormone receptor function is altered in patients with Donohue syndrome?","587e2300fc7e8dd84f000004_001":"Which R package could be used for the identification of pediatric brain tumors?","52bf217003868f1b0600001b_001":"What can Nothobranchius furzeri be used as a model system for?","58dd0dde8acda34529000027_012":"What tissue is commonly affected in Marfan's syndrome","58cbb98c02b8c60953000034_012":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","589a246078275d0c4a00002a_038":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","52bf19f703868f1b06000002_003":"What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?","56c1f040ef6e394741000055_001":"Which antibodies cause Riedel thyroiditis?","52bf19c503868f1b06000001_004":"What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?","571e12097de986d80d000017_004":"Which protein does empagliflozin inhibit?","587e1bfdfc7e8dd84f000002_004":"Which is the genome browser database for DNA shape annotations?","5343fc1aaeec6fbd07000003_025":"Which is the gene mutated in type 1 neurofibromatosis?","58d8e6818acda3452900000a_018":"Which gene mutations cause the Marfan syndrome?","58eb9542eda5a57672000007_021":"Which protein is the main marker of Cajal bodies?","58a57f9460087bc10a00001f_022":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a7234352dc08e987e000007_005":"What is the most common histological diagnosis of \"butterfly glioma\"?","58a5a51060087bc10a000021_013":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5506c3e38e1671127b00000a_013":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5353aedb288f4dae47000006_012":"Which is the transcript responsible for X-chromosome inactivation?","51585b28d24251bc0500008d_015":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5324a8ac9b2d7acc7e000018_016":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","52fa6ac72059c6d71c000055_019":"Is the transcriptional regulator BACH1 an activator or a repressor?","58cbb98c02b8c60953000034_025":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5324a8ac9b2d7acc7e000018_001":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","55376f19bc4f83e82800000c_008":"Which is the most common type of pediatric cerebellar tumor?","58a32efe60087bc10a000013_036":"What is MRSA?","587e1bfdfc7e8dd84f000002_008":"Which is the genome browser database for DNA shape annotations?","54df695b1388e8454a000004_013":"What is the synonym of the lubag disease?","51585b28d24251bc0500008d_019":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","58cbb98c02b8c60953000034_024":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","530cefaaad0bf1360c000012_013":"Which deficiency is the cause of restless leg syndrome?","5a72329e2dc08e987e000006_004":"Falciform ligament sign is characteristic to which disease?","58861d413b87a8a738000002_023":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5506c3e38e1671127b00000a_038":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a7877c0faa1ab7d2e00000c_006":"What is the first line treatment for sarcoidosis?","5171438a8ed59a060a000007_003":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","58eb9542eda5a57672000007_010":"Which protein is the main marker of Cajal bodies?","56bc77a3ac7ad10019000015_027":"RTS S AS01 vaccine was developed to prevent which disease?","530f900ee3eabad021000003_002":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","5896271178275d0c4a000004_002":"Which disease is treated with lucinactant?","5171438a8ed59a060a000007_009":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","5a75f6e083b0d9ea66000009_001":"Which data simulator is available for CLIP-SEQ experiments?","56bc77a3ac7ad10019000015_021":"RTS S AS01 vaccine was developed to prevent which disease?","5148691bd24251bc0500002d_011":"Which protein is affected by dusp8 activation?","56bc77a3ac7ad10019000015_023":"RTS S AS01 vaccine was developed to prevent which disease?","5a896c26fcd1d6a10c000007_003":"In which syndrome is the RPS19 gene most frequently mutated?","5abcf010fcf4565872000023_009":"What nerve is involved in carpal tunnel syndrome?","58d8e6818acda3452900000a_053":"Which gene mutations cause the Marfan syndrome?","58bca2f302b8c6095300000c_014":"What chromosome is affected in Turner's syndrome?","54e0d1491388e8454a000014_001":"Which enzyme is targeted by Evolocumab?","52bf1f1303868f1b06000014_004":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","5717dbfe7de986d80d000001_020":"What is the functional role of the protein Drp1?","53262cdcd6d3ac6a34000003_002":"What is the definitive treatment for low pressure headache?","56f6c11109dd18d46b00000e_002":"Which is the receptor for the immunosuppressive drug cyclosporin A (CsA)?","58a5a51060087bc10a000021_008":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5a68f005b750ff4455000016_004":"Which personality disorder is treated using dialectical behavior therapy?","530f900ee3eabad021000003_013":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","56c1d857ef6e394741000033_004":"What enzyme is inhibied by Opicapone?","5353aedb288f4dae47000006_007":"Which is the transcript responsible for X-chromosome inactivation?","554148c23f2354b713000001_007":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","554148c23f2354b713000001_002":"Which database is available for the identification of chorion proteins in Lepidopteran proteomes?","56ed0ffe2ac5ed1459000008_006":"Which type of myeloma is ixazomib being evaluated for?","589630f378275d0c4a000007_007":"Which enzyme is inhibited by ixazomib?","5a7237672dc08e987e000008_034":"Which drug can be reversed with idarucizumab?","54f35ad864850a5854000004_003":"LY450139 is investigational name of which drug?","550f0e4c6a8cde6b72000003_037":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","530cefaaad0bf1360c00000d_013":"Which hormone abnormalities are common in Williams syndrome ?","5abcf0b0fcf4565872000024_002":"What causes leishmaniasis?","550e828c71445a662f000002_010":"Which molecule is targeted by the drug Gevokizumab?","54cf45e7f693c3b16b00000a_008":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","56c048acef6e39474100001c_033":"Which enzyme is inhibited by Imetelstat?","58a6db8660087bc10a00002c_006":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5147c8a6d24251bc05000027_004":"Which enzyme is deficient in Krabbe disease?","5506c3e38e1671127b00000a_026":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","53357ca0d6d3ac6a3400004b_005":"Which enzyme is inhibited by a drug fostamatinib?","56ed0ffe2ac5ed1459000008_011":"Which type of myeloma is ixazomib being evaluated for?","572096c90fd6f91b6800000e_017":"Which gene is involved in Giant Axonal Neuropathy?","589a246078275d0c4a00002a_012":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","56c079b1ef6e394741000022_011":"Idarucizumab is an antidote of which drug?","5a70d42899e2c3af26000002_005":"Mutation of which gene causes arterial tortuosity syndrome?","5a74e9ad0384be955100000a_010":"What is a SERM?","5a7234352dc08e987e000007_010":"What is the most common histological diagnosis of \"butterfly glioma\"?","52fa6ac72059c6d71c000055_004":"Is the transcriptional regulator BACH1 an activator or a repressor?","56c073fcef6e394741000020_002":"What is the association of spermidine with \u03b1-synuclein neurotoxicity?","5880b073c872c95565000003_044":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","52bf19c503868f1b06000001_002":"What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?","52f21b722059c6d71c00000b_004":"What is the usual HER-2 status in breast cancer associated with Li-Fraumeni syndrome?","53357193d6d3ac6a34000047_016":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","51404dd723fec90375000002_001":"What is the methyl donor of DNA (cytosine-5)-methyltransferases?","55242d512c8b63434a000006_028":"Which receptors can be evaluated with the [18F]altanserin?","550f0e4c6a8cde6b72000003_028":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58bca2f302b8c6095300000c_004":"What chromosome is affected in Turner's syndrome?","5a7237672dc08e987e000008_013":"Which drug can be reversed with idarucizumab?","5a70e4b399e2c3af26000008_001":"Glecaprevir and Pibrentasvir are used for tratment of which disease?","58f4b25e70f9fc6f0f000011_003":"Hy's law measures failure for what organ?","58861d413b87a8a738000002_015":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","58adc1ff9ef3c34033000006_012":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","514a0a57d24251bc05000051_026":"Which drug should be used as an antidote in benzodiazepine overdose?","5353aedb288f4dae47000006_022":"Which is the transcript responsible for X-chromosome inactivation?","5149f494d24251bc0500004c_004":"Which medication should be administered when managing patients with suspected acute opioid overdose?","56ecfd572ac5ed1459000002_003":"How is oprozomib administered?","58eb9542eda5a57672000007_034":"Which protein is the main marker of Cajal bodies?","530cefaaad0bf1360c00000d_019":"Which hormone abnormalities are common in Williams syndrome ?","56c079b1ef6e394741000022_008":"Idarucizumab is an antidote of which drug?","530cefaaad0bf1360c00000d_008":"Which hormone abnormalities are common in Williams syndrome ?","5a7237672dc08e987e000008_022":"Which drug can be reversed with idarucizumab?","53262cdcd6d3ac6a34000003_006":"What is the definitive treatment for low pressure headache?","5506c3e38e1671127b00000a_030":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5324bdba9b2d7acc7e00001a_002":"How is bladder wall thickness measured?","550e828c71445a662f000002_001":"Which molecule is targeted by the drug Gevokizumab?","5a774fdcfaa1ab7d2e000008_027":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","58d8e6818acda3452900000a_005":"Which gene mutations cause the Marfan syndrome?","5540b9800083d1bf0e000002_005":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","516e7fda298dcd4e51000081_003":"Which is the methyl donor of histone methyltransferases?","550f0e4c6a8cde6b72000003_040":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58bc5e2202b8c60953000002_011":"Which human disease is associated with mutated UBQLN2","58a32efe60087bc10a000013_052":"What is MRSA?","589d965a78275d0c4a000049_019":"Which polymerase transcribes pri-miRNAs?","553c9f96f32186855800000c_002":"How are ultraconserved elements called when they form clusters?","55242d512c8b63434a000006_031":"Which receptors can be evaluated with the [18F]altanserin?","5a895f51fcd1d6a10c000004_002":"What is the preferred orientation of CTCF binding sites for chromatin looping?","56c079b1ef6e394741000022_004":"Idarucizumab is an antidote of which drug?","550f0e4c6a8cde6b72000003_020":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","516e7fda298dcd4e51000081_005":"Which is the methyl donor of histone methyltransferases?","5881f9b65bf093691f000001_002":"What do nerve-associated peripheral glial progenitors give rise to?","5a7234352dc08e987e000007_012":"What is the most common histological diagnosis of \"butterfly glioma\"?","58cdb41302b8c60953000042_019":"What tissue is most affected in Ehlers-Danlos syndromes?","589a246078275d0c4a00002a_028":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","56c4d14ab04e159d0e000003_001":"Do the Sleeping Beauty or the piggyBac transposons have higher transposition efficiency?","58bfd0db02b8c60953000017_002":"Which virus type causes Molluscum contagiosum?","58a6db8660087bc10a00002c_014":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","587e07023ec846c24f000001_002":"Which software package is available for the analysis of conserved genomic loci?","54e1bdacae9738404b000009_009":"What is generic name of drug Adempas?","58bc8e7a02b8c60953000007_006":"What is plantar fasciitis","54d649843706e89528000009_008":"What is the target of the drug Olaparib?","51405cd123fec90375000005_001":"Which is the defective protein causing the lysosomal storage disease Fabry?","56bc77a3ac7ad10019000015_009":"RTS S AS01 vaccine was developed to prevent which disease?","5a774fdcfaa1ab7d2e000008_009":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5353aedb288f4dae47000006_023":"Which is the transcript responsible for X-chromosome inactivation?","5ace19420340b9f05800000a_026":"Which gene is responsible for red hair?","5a742d620384be9551000002_008":"Which disease risk can be estimated with the Stop-Bang questionnaire?","58a2e5f760087bc10a000007_006":"Which is the primary protein component of Lewy bodies?","589d965a78275d0c4a000049_005":"Which polymerase transcribes pri-miRNAs?","550f0e4c6a8cde6b72000003_032":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5505a587f73303d458000005_009":"What does mTOR stands for?","56a24dfffe92d6fd19000002_001":"What is the role of eteplirsen in DMD patients?","5505a587f73303d458000005_002":"What does mTOR stands for?","5891c90949702f2e01000001_011":"Which tool employs self organizing maps for analyzing synonymous codon usage?","5353aedb288f4dae47000006_034":"Which is the transcript responsible for X-chromosome inactivation?","5880e417713cbdfd3d000001_002":"Which disease is treated with ZMapp?","5a7617b183b0d9ea66000022_002":"What is inhibited by a drug rilotumumab?","55200c606b348bb82c000013_002":"Which clotting factor is inhibited by betrixaban?","587e3129c32c812009000002_003":"Which R \/ bioconductor package is used for performing SNP enrichment analysis?","58cbb98c02b8c60953000034_001":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","588f9950ed9bbee70d000002_002":"Which gene is mutated in the Karak syndrome?","5a7237672dc08e987e000008_014":"Which drug can be reversed with idarucizumab?","5a6f853ab750ff4455000055_008":"Which disease can be diagnosed with the \"probe to bone\" test?","58adc1ff9ef3c34033000006_011":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","56ae57350a360a5e4500000a_001":"Which is the physiological target for LeuRS translational quality control?","52fe58f82059c6d71c00007a_007":"Do archaeal genomes contain one or multiple origins of replication?","5506c3e38e1671127b00000a_032":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a39453d966455904c000006_001":"Which method for subsampling of NGS reads requires only gene counts?","53130a77e3eabad02100000f_002":"Which hormone deficiency is implicated in the Costello syndrome ?","5895f18ce370baff39000001_002":"Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions?","587e1bfdfc7e8dd84f000002_007":"Which is the genome browser database for DNA shape annotations?","53357193d6d3ac6a34000047_020":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","514a0a57d24251bc05000051_018":"Which drug should be used as an antidote in benzodiazepine overdose?","5891f9e549702f2e01000002_037":"Willis-Ekbom disease is also known as?","56ed03862ac5ed1459000004_004":"Which enzyme does MLN4924 inhibit?","54cf7051f693c3b16b000013_003":"Treatment of which disease was investigated in the MR CLEAN study?","5ad6e431133db5eb7800000e_005":"Which test is used for the definition of colour-blindness?","5891f9e549702f2e01000002_027":"Willis-Ekbom disease is also known as?","5324a8ac9b2d7acc7e000018_039":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a742d620384be9551000002_022":"Which disease risk can be estimated with the Stop-Bang questionnaire?","536e46f27d100faa09000012_004":"Which is the gene most commonly mutated in Tay-Sachs disease?","5895f7e978275d0c4a000001_007":"What fruit causes Jamaican vomiting sickness?","5ace19420340b9f05800000a_014":"Which gene is responsible for red hair?","5324a8ac9b2d7acc7e000018_040":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5506c3e38e1671127b00000a_007":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a68f448b750ff4455000018_002":"Which bacteria causes erythrasma?","532dcfc9d6d3ac6a34000021_015":"What is the characteristic domain of histone methyltransferases?","550342a8f8aee20f27000002_006":"Which is the major symptom of the Doose syndrome?","530f900ee3eabad021000003_017":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","5519113b622b19434500000f_010":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","514a0a57d24251bc05000051_020":"Which drug should be used as an antidote in benzodiazepine overdose?","571e12097de986d80d000017_008":"Which protein does empagliflozin inhibit?","5a735cdc3b9d13c708000004_001":"In November 2017,  in what phase  was  the clinical trial for the drug SYL040012?","571f5c150fd6f91b68000009_020":"Which protein is found to be mutated in Friedreich's ataxia?","531464a6e3eabad021000014_032":"Mutation of which gene is associated with McLeod syndrome?","5171438a8ed59a060a000007_002":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","58c27b7102b8c60953000021_001":"Which effects create neighborhoods of transcriptional regulation in eukaryotes?","52bf1b0a03868f1b06000009_013":"What is the mode of inheritance of Wilson's disease?","5a74e9ad0384be955100000a_004":"What is a SERM?","588f2de394c1512c50000001_003":"Which R package is used for visualization of linear and circular karyotypes?","5a86f074faa1ab7d2e00003a_004":"With which cancers has the loss of SMARCB1 been associated?","54f9c40ddd3fc62544000001_010":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5a6e42f1b750ff4455000046_008":"What gene is mutated in Familial Mediterranean Fever?","5547a01cf35db75526000005_009":"In which kingdom do microsporidia belong, according to their current classification scheme?","54d8ea2c4b1fd0d33c000002_001":"Which is the most prevalent form of arrhythmia worldwide?","56c1f020ef6e394741000047_017":"Which disorder is rated by Palmini classification?","5890e163621ea6ff7e000004_002":"What is the target of tanezumab?","56c85ed65795f9a73e000012_004":"Does dasatinib promote or inhibit T-cell proliferation?","58cdb41302b8c60953000042_026":"What tissue is most affected in Ehlers-Danlos syndromes?","5891f9e549702f2e01000002_039":"Willis-Ekbom disease is also known as?","532dcfc9d6d3ac6a34000021_004":"What is the characteristic domain of histone methyltransferases?","58ee0dd5eda5a57672000013_006":"From which cell type is leptin secreted?","56c1f003ef6e394741000039_005":"What molecule is targeted by suvorexant?","58a32efe60087bc10a000013_013":"What is MRSA?","58a6db8660087bc10a00002c_002":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5a679e8cb750ff4455000006_007":"Milwaukee protocol was tested for treatment of which disease?","571e2beabb137a4b0c000006_004":"How is OCT3 associated with serotonin?","58f4b25e70f9fc6f0f000011_008":"Hy's law measures failure for what organ?","58f4b9d470f9fc6f0f000016_004":"What organism causes tularemia?","5324a8ac9b2d7acc7e000018_056":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58cf5c5a8acda34529000003_001":"Where is base J found in the genome of Leishmania tarentolae?","55200c606b348bb82c000013_027":"Which clotting factor is inhibited by betrixaban?","56f7c15a09dd18d46b000012_002":"Which gene has been implicated in Majeed Syndrome?","5a4df811966455904c00000e_012":"Which RNA polymerase II subunit carries RNA cleavage activity?","56ed0ffe2ac5ed1459000008_008":"Which type of myeloma is ixazomib being evaluated for?","58d8e6818acda3452900000a_036":"Which gene mutations cause the Marfan syndrome?","532f55fed6d3ac6a34000036_004":"What is the gene mutated in the Gaucher disease?","56c1f03bef6e394741000053_003":"Mutation of which gene is implicated in the Brain-lung-thyroid syndrome?","5324a8ac9b2d7acc7e000018_061":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58a6db8660087bc10a00002c_003":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","551fd9c06b348bb82c000012_033":"ROSIER scale is used for which disorder?","58cbb98c02b8c60953000034_023":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5895bc397d9090f35300000b_016":"Mutation of which gene is implicated in the Christianson syndrome?","5ace238e0340b9f05800000d_020":"Which human chromosome is the product of fusion?","54e0d1491388e8454a000014_011":"Which enzyme is targeted by Evolocumab?","588f9f83ed9bbee70d000004_002":"Viliuisk encephalomyelitis is diagnosed in which geographical area?","5a7877c0faa1ab7d2e00000c_001":"What is the first line treatment for sarcoidosis?","5540b9800083d1bf0e000002_011":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","571cdd227de986d80d00000f_001":"Which bacteria caused plague?","589a246078275d0c4a00002a_035":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","58861d413b87a8a738000002_016":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","58eb9542eda5a57672000007_007":"Which protein is the main marker of Cajal bodies?","55054f8af73303d458000002_003":"Which bone protein is used in archaelogy for dating and species identification?","56c1f01def6e394741000045_004":"Orteronel was developed for treatment of which cancer?","58a2e5f760087bc10a000007_005":"Which is the primary protein component of Lewy bodies?","54f9cb34dd3fc62544000002_005":"Which protein has been found to interact with phospholamban (PLN) and is also an anti-apoptotic protein?","5ace19420340b9f05800000a_049":"Which gene is responsible for red hair?","56cf236f3975bb303a000002_001":"Which calcium channels does ethosuximide target?","550f0e4c6a8cde6b72000003_014":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","517818508ed59a060a000035_002":"Which is the neurodevelopmental disorder associated to mutations in the X- linked gene mecp2?","5a68f448b750ff4455000018_004":"Which bacteria causes erythrasma?","5ace19420340b9f05800000a_024":"Which gene is responsible for red hair?","5ace19420340b9f05800000a_018":"Which gene is responsible for red hair?","587e2300fc7e8dd84f000004_003":"Which R package could be used for the identification of pediatric brain tumors?","58a57f9460087bc10a00001f_015":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a774fdcfaa1ab7d2e000008_007":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5313058de3eabad02100000e_007":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","56c048acef6e39474100001c_026":"Which enzyme is inhibited by Imetelstat?","58a57f9460087bc10a00001f_014":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a8b1264fcd1d6a10c00001d_003":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","52ece29f98d023950500002c_003":"Which thyroid hormone transporter is implicated in thyroid hormone resistance syndrome?","53130a77e3eabad02100000f_003":"Which hormone deficiency is implicated in the Costello syndrome ?","590c74d170f9fc6f0f00001e_004":"Which gene is the paralog of yeast UPC2?","55242d512c8b63434a000006_019":"Which receptors can be evaluated with the [18F]altanserin?","53357ca0d6d3ac6a3400004b_006":"Which enzyme is inhibited by a drug fostamatinib?","530cefaaad0bf1360c00000d_005":"Which hormone abnormalities are common in Williams syndrome ?","531464a6e3eabad021000014_011":"Mutation of which gene is associated with McLeod syndrome?","55421ee7ccca0ce74b000002_023":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","54e0e902ae9738404b000001_001":"What family do mDia proteins belong in?","58a32efe60087bc10a000013_044":"What is MRSA?","5895f7e978275d0c4a000001_003":"What fruit causes Jamaican vomiting sickness?","5343fc1aaeec6fbd07000003_001":"Which is the gene mutated in type 1 neurofibromatosis?","54df695b1388e8454a000004_008":"What is the synonym of the lubag disease?","5540ca8a0083d1bf0e000003_011":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","58a32efe60087bc10a000013_021":"What is MRSA?","55054f8af73303d458000002_004":"Which bone protein is used in archaelogy for dating and species identification?","5891f9e549702f2e01000002_024":"Willis-Ekbom disease is also known as?","58a32efe60087bc10a000013_014":"What is MRSA?","58d906b28acda3452900000d_002":"Where is the TAZ (G4.5) is located in humans?","58d8e6818acda3452900000a_020":"Which gene mutations cause the Marfan syndrome?","5a70d42899e2c3af26000002_002":"Mutation of which gene causes arterial tortuosity syndrome?","5ace12be0340b9f058000007_012":"Which gene is responsible for proper speech development?","55421ee7ccca0ce74b000002_022":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5880aef4c872c95565000001_016":"What is the target of daratumumab?","55421ee7ccca0ce74b000002_026":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","51716e808ed59a060a00000b_002":"Which is the vector of Louping ill virus?","54f60ae05f206a0c06000008_001":"What is the substrate of the microbial enzyme inulinase?","5ace37d50340b9f058000011_008":"Which is the main reason for the increase in the incidence of cryptococcal disease?","58861d413b87a8a738000002_017":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5519113b622b19434500000f_026":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","55054f8af73303d458000002_008":"Which bone protein is used in archaelogy for dating and species identification?","5343fc1aaeec6fbd07000003_036":"Which is the gene mutated in type 1 neurofibromatosis?","550e828c71445a662f000002_003":"Which molecule is targeted by the drug Gevokizumab?","5891f9e549702f2e01000002_014":"Willis-Ekbom disease is also known as?","589a246078275d0c4a00002a_010":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","571f5c150fd6f91b68000009_021":"Which protein is found to be mutated in Friedreich's ataxia?","58cdb41302b8c60953000042_018":"What tissue is most affected in Ehlers-Danlos syndromes?","5505db6a8e1671127b000003_001":"What are the structures formed when keratin molecules come together?","5a761ac3aacfb9cd4c000002_012":"What is the most common feature of the Doege\u2013Potter syndrome?","58cbb98c02b8c60953000034_068":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","571f5e740fd6f91b6800000b_001":"Which enzyme is deficient in Gaucher's disease?","55421ee7ccca0ce74b000002_014":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","54f9c40ddd3fc62544000001_008":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5540ca8a0083d1bf0e000003_004":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","58bfd8e902b8c60953000018_013":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","56c1d856ef6e394741000032_001":"Which pathway is activated by ficolin-3?","5a9dad764e03427e73000007_003":"What is the preDIVA clinical trial?","589317e849702f2e01000005_003":"Which server is used for generating modes of pseudo components of DNA, RNA and protein sequences?","58a57f9460087bc10a00001f_021":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5ace37d50340b9f058000011_002":"Which is the main reason for the increase in the incidence of cryptococcal disease?","56b710f276d8bf8d13000003_011":"What is the effect of a defective CLN3 gene?","587e2300fc7e8dd84f000004_012":"Which R package could be used for the identification of pediatric brain tumors?","56c079b1ef6e394741000022_007":"Idarucizumab is an antidote of which drug?","54f89e1a06d9727f76000001_004":"Which kinase is inhibited by the small molecule KN-93?","58cf5c5a8acda34529000003_002":"Where is base J found in the genome of Leishmania tarentolae?","5ace17c30340b9f058000009_001":"Which olfactory gene senses androsterone?","588f8e9794c1512c50000005_006":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","58a32efe60087bc10a000013_042":"What is MRSA?","54d907c84b1fd0d33c000008_001":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","533ea8fcc45e133714000010_009":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","53357193d6d3ac6a34000047_006":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","550f0e4c6a8cde6b72000003_035":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5880dba9c872c95565000009_010":"Which enzyme is inhibited by ribociclib?","53357ca0d6d3ac6a3400004b_007":"Which enzyme is inhibited by a drug fostamatinib?","58c6635f02b8c60953000023_001":"What is the inheritance of the glucose-6-phosphate dehydrogenase (G6PD) deficiency?","56d1da3b67f0cb3d66000006_002":"How many periods of regulatory innovation led to the evolution of vertebrates?","5a6e24a5b750ff445500003c_002":"Which workflow in Bioconductor has been developed for accessing human RNA-seq samples?","516be1d6298dcd4e5100006a_003":"What is the mode of inheritance of nemaline myopathy?","5353aedb288f4dae47000006_008":"Which is the transcript responsible for X-chromosome inactivation?","5a742d620384be9551000002_009":"Which disease risk can be estimated with the Stop-Bang questionnaire?","56c1f020ef6e394741000047_014":"Which disorder is rated by Palmini classification?","58a32efe60087bc10a000013_064":"What is MRSA?","530cefaaad0bf1360c00000d_021":"Which hormone abnormalities are common in Williams syndrome ?","5519110f622b19434500000c_002":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","5a774fdcfaa1ab7d2e000008_011":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","550ea8f1b305b40c5c000005_002":"Pridopidine has been tested for treatment of which disorder?","5540ca8a0083d1bf0e000003_008":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","550618f58e1671127b000007_004":"Which protein is the main inhibitor of protein phosphatase 1 (PP1)?","5a68f005b750ff4455000016_022":"Which personality disorder is treated using dialectical behavior therapy?","5353aedb288f4dae47000006_017":"Which is the transcript responsible for X-chromosome inactivation?","58a32efe60087bc10a000013_043":"What is MRSA?","5ace19420340b9f05800000a_025":"Which gene is responsible for red hair?","56c1f03bef6e394741000053_005":"Mutation of which gene is implicated in the Brain-lung-thyroid syndrome?","590c74d170f9fc6f0f00001e_003":"Which gene is the paralog of yeast UPC2?","56c1f040ef6e394741000055_002":"Which antibodies cause Riedel thyroiditis?","5ab1483bfcf4565872000014_001":"The common house cat, Felis silvestris catus and the domestic dog, Canis familiaris both belong to what taxonomic order?","51631154298dcd4e5100004e_004":"What disease is Velcade (bortezomib) mainly used for?","55032efde9bde69634000035_012":"Which receptor is targeted by telcagepant?","5a6e24a5b750ff445500003c_005":"Which workflow in Bioconductor has been developed for accessing human RNA-seq samples?","514a0a57d24251bc05000051_009":"Which drug should be used as an antidote in benzodiazepine overdose?","56ed0ffe2ac5ed1459000008_013":"Which type of myeloma is ixazomib being evaluated for?","56cdf40d5795f9a73e00003d_001":"Which transcription factor is considered as a master regulator of lysosomal genes?","52fa6ac72059c6d71c000055_008":"Is the transcriptional regulator BACH1 an activator or a repressor?","5a7347a02dc08e987e00001b_001":"Gallbladder carriage is a well recognised means of spread of which bacteria?","5a8b27e6fcd1d6a10c00001e_001":"Which R package has been developed for analyzing Non-invasive prenatal testing (NIPT) data?","56c1f020ef6e394741000047_024":"Which disorder is rated by Palmini classification?","5519110f622b19434500000c_004":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","5324a8ac9b2d7acc7e000018_013":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56ed03862ac5ed1459000004_008":"Which enzyme does MLN4924 inhibit?","58bc8e7a02b8c60953000007_004":"What is plantar fasciitis","589d965a78275d0c4a000049_006":"Which polymerase transcribes pri-miRNAs?","589185cc621ea6ff7e00000b_007":"Which disease is treated with Nusinersen?","58d0dc878acda34529000004_004":"Which is the largest metabolic gene cluster in yeast?","5518e7da622b194345000004_003":"Which MAP kinase phosphorylates the transcription factor c-jun?","58e9e7aa3e8b6dc87c00000d_010":"Which is the major RNA editing enzyme in Drosophila melanogaster?","5abcf010fcf4565872000023_001":"What nerve is involved in carpal tunnel syndrome?","56b710f276d8bf8d13000003_006":"What is the effect of a defective CLN3 gene?","571e12097de986d80d000017_012":"Which protein does empagliflozin inhibit?","54f9b74306d9727f76000004_021":"The drug JTV519 is derivative of which group of chemical compounds?","550f0e4c6a8cde6b72000003_042":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","56c1f020ef6e394741000047_021":"Which disorder is rated by Palmini classification?","56bc751eac7ad10019000013_005":"Name synonym of Acrokeratosis paraneoplastica.","5a86f074faa1ab7d2e00003a_005":"With which cancers has the loss of SMARCB1 been associated?","58cbb98c02b8c60953000034_058":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56c1f02aef6e39474100004b_003":"Which interleukin is blocked by Siltuximab?","58bfd8e902b8c60953000018_019":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","531464a6e3eabad021000014_017":"Mutation of which gene is associated with McLeod syndrome?","58cbb98c02b8c60953000034_046":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5895bc397d9090f35300000b_024":"Mutation of which gene is implicated in the Christianson syndrome?","5891f9e549702f2e01000002_026":"Willis-Ekbom disease is also known as?","58cbb98c02b8c60953000034_057":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","55032efde9bde69634000035_008":"Which receptor is targeted by telcagepant?","51635202298dcd4e5100004f_001":"How is myotonic dystrophy inherited?","571e14fbbb137a4b0c000001_001":"For which type of diabetes can empagliflozin be used?","54e0c3e71388e8454a000013_011":"Which enzyme is inhibited by Orteronel?","531464a6e3eabad021000014_058":"Mutation of which gene is associated with McLeod syndrome?","58e9e7aa3e8b6dc87c00000d_002":"Which is the major RNA editing enzyme in Drosophila melanogaster?","5891c90949702f2e01000001_012":"Which tool employs self organizing maps for analyzing synonymous codon usage?","54fc91e96ad7dcbc12000001_001":"PBT2 has been tested for which disorder?","55242d512c8b63434a000006_009":"Which receptors can be evaluated with the [18F]altanserin?","5353aedb288f4dae47000006_015":"Which is the transcript responsible for X-chromosome inactivation?","58d8e6818acda3452900000a_030":"Which gene mutations cause the Marfan syndrome?","56bc7d71ac7ad10019000018_003":"Which disease can be treated with Delamanid?","5a8b1264fcd1d6a10c00001d_005":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","5a6f960fb750ff445500005c_002":"Centor criteria are used for which disease?","5518e7da622b194345000004_007":"Which MAP kinase phosphorylates the transcription factor c-jun?","56c5feb75795f9a73e000006_001":"Which is the most common CFTR mutation in Caucasians?","51631154298dcd4e5100004e_012":"What disease is Velcade (bortezomib) mainly used for?","5891b125621ea6ff7e00000e_015":"Which disease is treated with taliglucerase alfa?","514a0a57d24251bc05000051_022":"Which drug should be used as an antidote in benzodiazepine overdose?","56b76d916e3f8eaf4c000001_001":"To which family does the Zika virus belong?","58e9e7aa3e8b6dc87c00000d_016":"Which is the major RNA editing enzyme in Drosophila melanogaster?","56c1f020ef6e394741000047_010":"Which disorder is rated by Palmini classification?","5353aedb288f4dae47000006_033":"Which is the transcript responsible for X-chromosome inactivation?","589a246078275d0c4a00002a_007":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","532dcfc9d6d3ac6a34000021_018":"What is the characteristic domain of histone methyltransferases?","5547a01cf35db75526000005_003":"In which kingdom do microsporidia belong, according to their current classification scheme?","58bc8e7a02b8c60953000007_002":"What is plantar fasciitis","5324a8ac9b2d7acc7e000018_043":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5880aef4c872c95565000001_006":"What is the target of daratumumab?","53318685d6d3ac6a3400003d_003":"What is the mode of inheritance of Acromicric dysplasia?","56c1f01def6e394741000045_012":"Orteronel was developed for treatment of which cancer?","571e14fbbb137a4b0c000001_004":"For which type of diabetes can empagliflozin be used?","52bf1b0a03868f1b06000009_012":"What is the mode of inheritance of Wilson's disease?","58cdb41302b8c60953000042_009":"What tissue is most affected in Ehlers-Danlos syndromes?","5ace19420340b9f05800000a_044":"Which gene is responsible for red hair?","589185cc621ea6ff7e00000b_012":"Which disease is treated with Nusinersen?","5343fc1aaeec6fbd07000003_010":"Which is the gene mutated in type 1 neurofibromatosis?","58a2e5f760087bc10a000007_016":"Which is the primary protein component of Lewy bodies?","56e0447a51531f7e3300000b_014":"Which are the smallest known subviral pathogens of plants?","514a0a57d24251bc05000051_040":"Which drug should be used as an antidote in benzodiazepine overdose?","532dcfc9d6d3ac6a34000021_002":"What is the characteristic domain of histone methyltransferases?","5343fc1aaeec6fbd07000003_023":"Which is the gene mutated in type 1 neurofibromatosis?","58a32efe60087bc10a000013_011":"What is MRSA?","54e0c3e71388e8454a000013_001":"Which enzyme is inhibited by Orteronel?","5ace238e0340b9f05800000d_008":"Which human chromosome is the product of fusion?","58bfd8e902b8c60953000018_005":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","58d8e6818acda3452900000a_016":"Which gene mutations cause the Marfan syndrome?","5545186cbf90a13052000002_009":"Which gene strand is targeted by transcription-coupled repair (TCR)?","58ee0dd5eda5a57672000013_005":"From which cell type is leptin secreted?","5880b073c872c95565000003_016":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","52ee9f55c8da898910000009_006":"What is the mode of inheritance of Romano Ward long QT syndrome?","5506c3e38e1671127b00000a_051":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","589a246078275d0c4a00002a_026":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","571e275dbb137a4b0c000005_001":"What are 'vildagliptin', 'sitagliptin', 'saxagliptin', 'alogliptin', 'linagliptin', and 'dutogliptin'?","5a742d620384be9551000002_010":"Which disease risk can be estimated with the Stop-Bang questionnaire?","58cbb98c02b8c60953000034_015":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","52ece29f98d023950500002c_002":"Which thyroid hormone transporter is implicated in thyroid hormone resistance syndrome?","58a644e560087bc10a000027_003":"What is the drug target for Simtuzumab?","589317e849702f2e01000005_006":"Which server is used for generating modes of pseudo components of DNA, RNA and protein sequences?","532f55fed6d3ac6a34000036_013":"What is the gene mutated in the Gaucher disease?","5a79d0b8faa1ab7d2e00000d_004":"What cellular process are okazaki fragments associated with?","58a57f9460087bc10a00001f_010":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","532dcfc9d6d3ac6a34000021_007":"What is the characteristic domain of histone methyltransferases?","54df695b1388e8454a000004_006":"What is the synonym of the lubag disease?","53189656b166e2b80600001c_001":"Against which protein is the antibody used for immonostaining of Lewy bodies raised?","5ace238e0340b9f05800000d_010":"Which human chromosome is the product of fusion?","531af8cbb166e2b80600003a_001":"How many genes outside of the MHC locus have been genetically associated to Rheumatoid Arthritis through GWAS?","514a0a57d24251bc05000051_015":"Which drug should be used as an antidote in benzodiazepine overdose?","55180ef46487737b43000006_022":"What is the typical rash associated with gluten ?","56a39d60496b62f23f000006_001":"Which package is available for analysing genomic interactions in R\/Bioconductor?","58eb9542eda5a57672000007_030":"Which protein is the main marker of Cajal bodies?","58861d413b87a8a738000002_019":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5ace12be0340b9f058000007_005":"Which gene is responsible for proper speech development?","56c04412ef6e39474100001b_008":"Which molecule is targeted by Daratumumab?","587f7a69d8d850a152000001_008":"Which library is used for fixed-length approximate string matching?","5547a01cf35db75526000005_012":"In which kingdom do microsporidia belong, according to their current classification scheme?","531464a6e3eabad021000014_006":"Mutation of which gene is associated with McLeod syndrome?","56c8f4615795f9a73e00001a_012":"Which genome browser database for DNA shape annotations is available?","5353aedb288f4dae47000006_006":"Which is the transcript responsible for X-chromosome inactivation?","56b710f276d8bf8d13000003_007":"What is the effect of a defective CLN3 gene?","53357193d6d3ac6a34000047_002":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5a992b371d1251d03b00000a_001":"What does MetaHIT stand for?","5118dd1305c10fae75000001_006":"Is Rheumatoid Arthritis more common in men or women?","56c8f4615795f9a73e00001a_002":"Which genome browser database for DNA shape annotations is available?","55032e65e9bde69634000034_004":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","589a246078275d0c4a00002a_033":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5a896c26fcd1d6a10c000007_006":"In which syndrome is the RPS19 gene most frequently mutated?","5abcf010fcf4565872000023_003":"What nerve is involved in carpal tunnel syndrome?","57138eb21174fb175500000a_003":"Which is the protein implicated in Spinocerebellar ataxia type 3?","55421ee7ccca0ce74b000002_009":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","54f9c40ddd3fc62544000001_013":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5880aef4c872c95565000001_012":"What is the target of daratumumab?","5ace12be0340b9f058000007_013":"Which gene is responsible for proper speech development?","55201a316b348bb82c000019_003":"What is the sedimentation coefficient of the mammalian mitoribosome?","589a246078275d0c4a00002a_013":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","55242d512c8b63434a000006_017":"Which receptors can be evaluated with the [18F]altanserin?","56bc77a3ac7ad10019000015_014":"RTS S AS01 vaccine was developed to prevent which disease?","58d8e6818acda3452900000a_012":"Which gene mutations cause the Marfan syndrome?","56c1f01def6e394741000045_009":"Orteronel was developed for treatment of which cancer?","5a4e50b242878bf97d000001_005":"Which topoisomerase is essential in yeast?","58bfd8e902b8c60953000018_015":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","550f0e4c6a8cde6b72000003_038":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5343fc1aaeec6fbd07000003_032":"Which is the gene mutated in type 1 neurofibromatosis?","5a4e50b242878bf97d000001_009":"Which topoisomerase is essential in yeast?","52fa6ac72059c6d71c000055_010":"Is the transcriptional regulator BACH1 an activator or a repressor?","5a76179d83b0d9ea66000021_007":"Which algorithm has been proposed for efficient storage of WGS variant calls?","5a6fa61ab750ff4455000060_003":"Which tool exists for microsatellite (SSR) loci detection and primer design?","58a6db8660087bc10a00002c_001":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5a7428090384be9551000001_006":"What can be predicted with the Wells criteria?","55200c606b348bb82c000013_015":"Which clotting factor is inhibited by betrixaban?","571f5e740fd6f91b6800000b_003":"Which enzyme is deficient in Gaucher's disease?","58bca2f302b8c6095300000c_007":"What chromosome is affected in Turner's syndrome?","531464a6e3eabad021000014_037":"Mutation of which gene is associated with McLeod syndrome?","5a895f51fcd1d6a10c000004_004":"What is the preferred orientation of CTCF binding sites for chromatin looping?","5717dbfe7de986d80d000001_003":"What is the functional role of the protein Drp1?","58e7902b3e8b6dc87c000007_001":"Which is the most common gene signature in Rheumatoid Arthritis patients?","5709ee36cf1c32585100001e_001":"Which syndrome is associated with mutant DVL1?","5540b9800083d1bf0e000002_003":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","589317e849702f2e01000005_001":"Which server is used for generating modes of pseudo components of DNA, RNA and protein sequences?","55421ee7ccca0ce74b000002_043":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5891f9e549702f2e01000002_020":"Willis-Ekbom disease is also known as?","56d860ad51531f7e33000002_003":"Which syndrome is NHE6 associated with?","58efa1b870f9fc6f0f000003_001":"What is a \"chemobrain\"?","533be71dfd9a95ea0d000009_001":"Which is the histone residue methylated by MLL1?","56b1f4300a360a5e4500001b_001":"Which peptide plays a pivotal role in human cystatin C fibrillization?","5148691bd24251bc0500002d_005":"Which protein is affected by dusp8 activation?","58a32efe60087bc10a000013_002":"What is MRSA?","56d1f790f22319765a000001_004":"Which gene harbors the mutation T790M?","58f4b9d470f9fc6f0f000016_003":"What organism causes tularemia?","530cefaaad0bf1360c000012_012":"Which deficiency is the cause of restless leg syndrome?","56c4d14ab04e159d0e000003_002":"Do the Sleeping Beauty or the piggyBac transposons have higher transposition efficiency?","530cefaaad0bf1360c000012_002":"Which deficiency is the cause of restless leg syndrome?","58a57f9460087bc10a00001f_012":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a9e202bde7cb99d40000002_003":"Which method is Proseek based on?","5519110f622b19434500000c_008":"Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?","5abcf010fcf4565872000023_006":"What nerve is involved in carpal tunnel syndrome?","550f0e4c6a8cde6b72000003_041":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5353aedb288f4dae47000006_025":"Which is the transcript responsible for X-chromosome inactivation?","553c9f96f32186855800000c_001":"How are ultraconserved elements called when they form clusters?","5a774fdcfaa1ab7d2e000008_014":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5324bdba9b2d7acc7e00001a_010":"How is bladder wall thickness measured?","5717dbfe7de986d80d000001_021":"What is the functional role of the protein Drp1?","5519113b622b19434500000f_014":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5324a8ac9b2d7acc7e000018_041":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58a32efe60087bc10a000013_058":"What is MRSA?","551fd9c06b348bb82c000012_006":"ROSIER scale is used for which disorder?","55475dc2f35db75526000001_003":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","56c3320a50c68dd416000008_005":"What is the incidence of cystic fibrosis in the caucasian population?","56c4d14ab04e159d0e000003_004":"Do the Sleeping Beauty or the piggyBac transposons have higher transposition efficiency?","5a72329e2dc08e987e000006_006":"Falciform ligament sign is characteristic to which disease?","58d8e6818acda3452900000a_003":"Which gene mutations cause the Marfan syndrome?","589185cc621ea6ff7e00000b_006":"Which disease is treated with Nusinersen?","5a8b1264fcd1d6a10c00001d_013":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","5ab2cc66fcf4565872000015_002":"Cytochrome p450 CYP3A is induced by rifampicin  and compounds used to treat what virus?","571e12097de986d80d000017_013":"Which protein does empagliflozin inhibit?","56f564f909dd18d46b000009_004":"Which syndrome is associated with mutations in the LYST gene?","58cdb41302b8c60953000042_020":"What tissue is most affected in Ehlers-Danlos syndromes?","55192892622b194345000012_003":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","55242d512c8b63434a000006_012":"Which receptors can be evaluated with the [18F]altanserin?","551c23bc6b348bb82c00000b_007":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","55200c606b348bb82c000013_006":"Which clotting factor is inhibited by betrixaban?","5880aef4c872c95565000001_004":"What is the target of daratumumab?","5880b073c872c95565000003_028":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58d906b28acda3452900000d_006":"Where is the TAZ (G4.5) is located in humans?","5545186cbf90a13052000002_019":"Which gene strand is targeted by transcription-coupled repair (TCR)?","5a679e8cb750ff4455000006_004":"Milwaukee protocol was tested for treatment of which disease?","56c1f02cef6e39474100004c_001":"GV1001 vaccine targets which enzyme?","534abe8aaeec6fbd07000013_002":"Which heat shock protein is found to be upregulated during Hsp90 inhibition?","56a8ee75a17756b72f000007_001":"What is the link between Dax1 and Esrrb?","56f7c15a09dd18d46b000012_001":"Which gene has been implicated in Majeed Syndrome?","54d907c84b1fd0d33c000008_007":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","532f55fed6d3ac6a34000036_015":"What is the gene mutated in the Gaucher disease?","5148691bd24251bc0500002d_008":"Which protein is affected by dusp8 activation?","5880b073c872c95565000003_038":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","530f900ee3eabad021000003_009":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","55242d512c8b63434a000006_011":"Which receptors can be evaluated with the [18F]altanserin?","5324a8ac9b2d7acc7e000018_047":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5353aedb288f4dae47000006_021":"Which is the transcript responsible for X-chromosome inactivation?","571f5c150fd6f91b68000009_011":"Which protein is found to be mutated in Friedreich's ataxia?","5880b812c872c95565000006_013":"Which infection can be prevented with Dapivirine?","56c079b1ef6e394741000022_010":"Idarucizumab is an antidote of which drug?","5880b073c872c95565000003_011":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5ace19420340b9f05800000a_027":"Which gene is responsible for red hair?","55180ef46487737b43000006_013":"What is the typical rash associated with gluten ?","58cbb98c02b8c60953000034_071":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","550f0e4c6a8cde6b72000003_006":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58bfd8e902b8c60953000018_003":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","572096c90fd6f91b6800000e_013":"Which gene is involved in Giant Axonal Neuropathy?","5a6e3155b750ff445500003f_003":"Which R\/Bioconductor package has been developed for cancer subtype identification?","531464a6e3eabad021000014_007":"Mutation of which gene is associated with McLeod syndrome?","5149f494d24251bc0500004c_007":"Which medication should be administered when managing patients with suspected acute opioid overdose?","58cdb41302b8c60953000042_003":"What tissue is most affected in Ehlers-Danlos syndromes?","55180ef46487737b43000006_006":"What is the typical rash associated with gluten ?","571e12097de986d80d000017_018":"Which protein does empagliflozin inhibit?","5a690487b750ff445500001f_007":"Which virus can be diagnosed with the monospot test?","5ace238e0340b9f05800000d_001":"Which human chromosome is the product of fusion?","532f55fed6d3ac6a34000036_011":"What is the gene mutated in the Gaucher disease?","550e828c71445a662f000002_008":"Which molecule is targeted by the drug Gevokizumab?","5a896c26fcd1d6a10c000007_013":"In which syndrome is the RPS19 gene most frequently mutated?","55421ee7ccca0ce74b000002_028":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","56ed03862ac5ed1459000004_002":"Which enzyme does MLN4924 inhibit?","55054f8af73303d458000002_007":"Which bone protein is used in archaelogy for dating and species identification?","58eb9542eda5a57672000007_003":"Which protein is the main marker of Cajal bodies?","56e2acfe51531f7e33000014_002":"During which stage of the cell cycle is cohesin deposited on the yeast genome?","55242d512c8b63434a000006_010":"Which receptors can be evaluated with the [18F]altanserin?","5147c8a6d24251bc05000027_015":"Which enzyme is deficient in Krabbe disease?","589a246078275d0c4a00002a_009":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","514a0a57d24251bc05000051_001":"Which drug should be used as an antidote in benzodiazepine overdose?","54ff45966ad7dcbc12000010_001":"Which protein is causing Netherton syndrome?","5ace12be0340b9f058000007_011":"Which gene is responsible for proper speech development?","56c865d25795f9a73e000016_003":"Which compound is a specific inhibitor for Nox1 and Nox4?","5880a8ec0a76a87357000001_004":"Which R package is used for the detection of chromosomal abnormalities from microarray data?","5ace19420340b9f05800000a_046":"Which gene is responsible for red hair?","5147c8a6d24251bc05000027_005":"Which enzyme is deficient in Krabbe disease?","587f7a69d8d850a152000001_009":"Which library is used for fixed-length approximate string matching?","56d1da3b67f0cb3d66000006_003":"How many periods of regulatory innovation led to the evolution of vertebrates?","514a0a57d24251bc05000051_042":"Which drug should be used as an antidote in benzodiazepine overdose?","56afe6d40a360a5e45000017_003":"Which tool is used for promoterome mining using CAGE data?","588f8e9794c1512c50000005_009":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","58853922e56acf5176000016_001":"To which disease does the loss of CD28 expression by liver-infiltrating T cells contribute?","56c5fd325795f9a73e000005_001":"Which is the genetic basis of Spinal Muscular Atrophy (SMA)?","54f35ad864850a5854000004_006":"LY450139 is investigational name of which drug?","51631154298dcd4e5100004e_016":"What disease is Velcade (bortezomib) mainly used for?","5506c3e38e1671127b00000a_011":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58a2e5f760087bc10a000007_011":"Which is the primary protein component of Lewy bodies?","5ace238e0340b9f05800000d_016":"Which human chromosome is the product of fusion?","58cbb98c02b8c60953000034_008":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","58a32efe60087bc10a000013_016":"What is MRSA?","52fa6ac72059c6d71c000055_011":"Is the transcriptional regulator BACH1 an activator or a repressor?","55421ee7ccca0ce74b000002_038":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","58e9e7aa3e8b6dc87c00000d_009":"Which is the major RNA editing enzyme in Drosophila melanogaster?","587f760792a5b8ad44000005_003":"Which peak calling algorithm employs mixture model clustering under the hood?","58eb9542eda5a57672000007_033":"Which protein is the main marker of Cajal bodies?","56c8f4615795f9a73e00001a_008":"Which genome browser database for DNA shape annotations is available?","5353aedb288f4dae47000006_014":"Which is the transcript responsible for X-chromosome inactivation?","58d8e6818acda3452900000a_041":"Which gene mutations cause the Marfan syndrome?","5118dd1305c10fae75000001_008":"Is Rheumatoid Arthritis more common in men or women?","55242d512c8b63434a000006_003":"Which receptors can be evaluated with the [18F]altanserin?","58a32efe60087bc10a000013_004":"What is MRSA?","5a4e50b242878bf97d000001_004":"Which topoisomerase is essential in yeast?","550618f58e1671127b000007_003":"Which protein is the main inhibitor of protein phosphatase 1 (PP1)?","58cbb98c02b8c60953000034_035":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5710a592cf1c32585100002a_005":"Which metabolite activates AtxA?","5a895f51fcd1d6a10c000004_005":"What is the preferred orientation of CTCF binding sites for chromatin looping?","58bca2f302b8c6095300000c_012":"What chromosome is affected in Turner's syndrome?","5a761ac3aacfb9cd4c000002_001":"What is the most common feature of the Doege\u2013Potter syndrome?","531464a6e3eabad021000014_033":"Mutation of which gene is associated with McLeod syndrome?","55376663bc4f83e82800000a_001":"Which biomarker is widely used in the diagnosis of Ewing sarcoma?","54f9b74306d9727f76000004_013":"The drug JTV519 is derivative of which group of chemical compounds?","5324a8ac9b2d7acc7e000018_044":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5343caffaeec6fbd07000002_002":"Which is the human selenoprotein that contains several Se-Cys residues?","58d8e6818acda3452900000a_024":"Which gene mutations cause the Marfan syndrome?","5710a592cf1c32585100002a_010":"Which metabolite activates AtxA?","58dcb47c8acda34529000020_002":"What is the role of TAD protein domain?","5177def18ed59a060a000034_002":"Which is the molecular mechanism underlying K-ras alterations in carcinomas?","5545e65bd355485447000001_001":"Patients of which disease could be treated by utilizing knowledge obtained from experiments suppressing TDP-43 toxicity in yeast?","517818508ed59a060a000035_001":"Which is the neurodevelopmental disorder associated to mutations in the X- linked gene mecp2?","56afe6d40a360a5e45000017_002":"Which tool is used for promoterome mining using CAGE data?","5148691bd24251bc0500002d_007":"Which protein is affected by dusp8 activation?","587e1bfdfc7e8dd84f000002_002":"Which is the genome browser database for DNA shape annotations?","54e0c3e71388e8454a000013_003":"Which enzyme is inhibited by Orteronel?","5ad6e431133db5eb7800000e_006":"Which test is used for the definition of colour-blindness?","5353aedb288f4dae47000006_020":"Which is the transcript responsible for X-chromosome inactivation?","56c1f045ef6e394741000058_006":"Selexipag is used for which disease?","589630f378275d0c4a000007_001":"Which enzyme is inhibited by ixazomib?","56c048acef6e39474100001c_031":"Which enzyme is inhibited by Imetelstat?","58d906b28acda3452900000d_004":"Where is the TAZ (G4.5) is located in humans?","5544de7a5beec11c10000005_001":"In which phase of cell cycle does  stress-induced transcription-associated mutagenesis (TAM) occur?","5ace17c30340b9f058000009_003":"Which olfactory gene senses androsterone?","56c5feb75795f9a73e000006_002":"Which is the most common CFTR mutation in Caucasians?","56f961b3cf1c325851000003_001":"What is the color of the protein Ranasmurfin?","51387022bee46bd34c000002_001":"Which is the process that Conserved noncoding elements mostly regulate?","54ff45966ad7dcbc12000010_002":"Which protein is causing Netherton syndrome?","56bc751eac7ad10019000013_002":"Name synonym of Acrokeratosis paraneoplastica.","5324ce779b2d7acc7e00001e_001":"Which drug is considered as the first line treatment of fibromyalgia?","53357193d6d3ac6a34000047_001":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","5ace238e0340b9f05800000d_017":"Which human chromosome is the product of fusion?","58cbb98c02b8c60953000034_005":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a86f074faa1ab7d2e00003a_010":"With which cancers has the loss of SMARCB1 been associated?","55054f8af73303d458000002_009":"Which bone protein is used in archaelogy for dating and species identification?","5880b073c872c95565000003_031":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5895f18ce370baff39000001_005":"Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions?","5895f18ce370baff39000001_004":"Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions?","5a6900ebb750ff445500001d_003":"Which disease is diagnosed using the Finkelstein's test?","5a4e50b242878bf97d000001_003":"Which topoisomerase is essential in yeast?","5519113b622b19434500000f_005":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","53262cdcd6d3ac6a34000003_003":"What is the definitive treatment for low pressure headache?","5a70d42899e2c3af26000002_004":"Mutation of which gene causes arterial tortuosity syndrome?","58e79e703e8b6dc87c00000a_001":"What percentage of rheumatoid arthritis patients are responsive to anti-TNF therapy?","5ac725250340b9f058000006_004":"Which miRNA is associated with the circular RNA ciRS-7?","5a6f960fb750ff445500005c_009":"Centor criteria are used for which disease?","58f4b9d470f9fc6f0f000016_002":"What organism causes tularemia?","52f896d62059c6d71c000046_001":"What memory problems are reported in the \" Gulf war syndrome\"","52fa6ac72059c6d71c000055_015":"Is the transcriptional regulator BACH1 an activator or a repressor?","5a6a3464b750ff4455000026_001":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","53357193d6d3ac6a34000047_012":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","54cb9c94f693c3b16b000005_019":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","58bc5e2202b8c60953000002_005":"Which human disease is associated with mutated UBQLN2","5ab147edfcf4565872000013_004":"The Mantoux test detects what latent infection\/disease?","5519113b622b19434500000f_020":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","56c85ed65795f9a73e000012_002":"Does dasatinib promote or inhibit T-cell proliferation?","5881f9b65bf093691f000001_003":"What do nerve-associated peripheral glial progenitors give rise to?","5314bd7ddae131f847000006_007":"Which hormone receptor function is altered in patients with Donohue syndrome?","54f35ad864850a5854000004_001":"LY450139 is investigational name of which drug?","550ea8f1b305b40c5c000005_001":"Pridopidine has been tested for treatment of which disorder?","5ace238e0340b9f05800000d_006":"Which human chromosome is the product of fusion?","5ace238e0340b9f05800000d_023":"Which human chromosome is the product of fusion?","5a6e472ab750ff4455000048_001":"What is the function of the TMEM132 genes?","58b56fe422d3005309000007_002":"Where do the Schwann cells and melanocytes originate from?","58cbb98c02b8c60953000034_069":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56c1f02aef6e39474100004b_005":"Which interleukin is blocked by Siltuximab?","58a57f9460087bc10a00001f_006":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","58a32edd60087bc10a000012_001":"What is Contrave prescribed for?","58e75d483e8b6dc87c000005_003":"Which gene controls the expression of GATA-1 isoforms?","58861d413b87a8a738000002_006":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","571e40a8bb137a4b0c000009_001":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","57138eb21174fb175500000a_002":"Which is the protein implicated in Spinocerebellar ataxia type 3?","58d8e6818acda3452900000a_011":"Which gene mutations cause the Marfan syndrome?","56c079b1ef6e394741000022_006":"Idarucizumab is an antidote of which drug?","54f5bc7d5f206a0c06000001_001":"What is the function of caspases?","56d860ad51531f7e33000002_004":"Which syndrome is NHE6 associated with?","5890e163621ea6ff7e000004_006":"What is the target of tanezumab?","56c1f00def6e39474100003f_001":"Which enzyme is inhibited by Varespladib?","54edf81f94afd61504000014_002":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","532366f09b2d7acc7e000015_001":"Which amino acid residue appears mutated in most of the cases reported with  cadasil syndrome?","571e12097de986d80d000017_006":"Which protein does empagliflozin inhibit?","530cefaaad0bf1360c00000d_011":"Which hormone abnormalities are common in Williams syndrome ?","51585b28d24251bc0500008d_012":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5a68f005b750ff4455000016_002":"Which personality disorder is treated using dialectical behavior therapy?","589480b47d9090f353000007_008":"Which server is used for simulation of macromolecular diffusional association?","5348307daeec6fbd07000011_001":"What does iBAQ stand for in proteomic analysis?","5891b125621ea6ff7e00000e_014":"Which disease is treated with taliglucerase alfa?","58a57f9460087bc10a00001f_008":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5717dbfe7de986d80d000001_010":"What is the functional role of the protein Drp1?","5a68f448b750ff4455000018_001":"Which bacteria causes erythrasma?","58a2e5f760087bc10a000007_015":"Which is the primary protein component of Lewy bodies?","588f9950ed9bbee70d000002_010":"Which gene is mutated in the Karak syndrome?","5710a592cf1c32585100002a_008":"Which metabolite activates AtxA?","588f9950ed9bbee70d000002_005":"Which gene is mutated in the Karak syndrome?","533be71dfd9a95ea0d000009_002":"Which is the histone residue methylated by MLL1?","5a7617b183b0d9ea66000022_008":"What is inhibited by a drug rilotumumab?","5324a8ac9b2d7acc7e000018_035":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","55200c606b348bb82c000013_005":"Which clotting factor is inhibited by betrixaban?","58b56fe422d3005309000007_004":"Where do the Schwann cells and melanocytes originate from?","56ae6e650a360a5e4500000e_005":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","5880aef4c872c95565000001_015":"What is the target of daratumumab?","552fac4fbc4f83e828000006_002":"Which fusion protein is involved in the development of Ewing sarcoma?","5a6e2578b750ff445500003d_003":"Which package in Bioconductor has been developed with the aim to analyze differential DNA loops from sequencing data?","55180ef46487737b43000006_019":"What is the typical rash associated with gluten ?","530cefaaad0bf1360c00000d_001":"Which hormone abnormalities are common in Williams syndrome ?","5324a8ac9b2d7acc7e000018_023":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a7428090384be9551000001_001":"What can be predicted with the Wells criteria?","55032efde9bde69634000035_007":"Which receptor is targeted by telcagepant?","571e12097de986d80d000017_014":"Which protein does empagliflozin inhibit?","554356d0ed966d112c000005_002":"Which is the most common measure of differences between dinucleotide relative abundance \"genomic signatures\"","5540ca8a0083d1bf0e000003_012":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","54cb9c94f693c3b16b000005_012":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5a871a6861bb38fb24000009_003":"What disease is the ALK tyrosine kinase associated with?","5880dba9c872c95565000009_009":"Which enzyme is inhibited by ribociclib?","56b710f276d8bf8d13000003_010":"What is the effect of a defective CLN3 gene?","51631154298dcd4e5100004e_011":"What disease is Velcade (bortezomib) mainly used for?","55475dc2f35db75526000001_004":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","55200c606b348bb82c000013_010":"Which clotting factor is inhibited by betrixaban?","5a68f005b750ff4455000016_005":"Which personality disorder is treated using dialectical behavior therapy?","5891c90949702f2e01000001_008":"Which tool employs self organizing maps for analyzing synonymous codon usage?","58ee0dd5eda5a57672000013_002":"From which cell type is leptin secreted?","51585b28d24251bc0500008d_005":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","58a6db8660087bc10a00002c_007":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5a9acd921d1251d03b000016_001":"In what phase of clinical trials is crenezumab? (November 2017)","550739cf3b8a5dc045000002_001":"Which is the RNA sequence of the canonical polyadenylation signal?","5147c8a6d24251bc05000027_001":"Which enzyme is deficient in Krabbe disease?","587e0116ae05ffb474000002_005":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","52bf1b0a03868f1b06000009_011":"What is the mode of inheritance of Wilson's disease?","589a247078275d0c4a000035_013":"Dinutuximab is used for treatment of which disease?","53440d2caeec6fbd07000004_002":"Is the long non- coding RNA malat-1 up or downregulated in cancer?","5880aef4c872c95565000001_003":"What is the target of daratumumab?","533ea8fcc45e133714000010_017":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","5506c3e38e1671127b00000a_005":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5891c90949702f2e01000001_007":"Which tool employs self organizing maps for analyzing synonymous codon usage?","58a32efe60087bc10a000013_029":"What is MRSA?","5314bd7ddae131f847000006_010":"Which hormone receptor function is altered in patients with Donohue syndrome?","5545186cbf90a13052000002_005":"Which gene strand is targeted by transcription-coupled repair (TCR)?","55180ef46487737b43000006_018":"What is the typical rash associated with gluten ?","54fc91e96ad7dcbc12000001_003":"PBT2 has been tested for which disorder?","56bdc79bef6e394741000001_004":"Which eye condition is managed by the athens protocol?","56c048acef6e39474100001c_034":"Which enzyme is inhibited by Imetelstat?","58b6978822d300530900000a_003":"Which disease the London mutation involved in?","550c3754a103b78016000007_001":"Which disease of the central nervous system is characterized by the presence of Lewy bodies?","5a6f853ab750ff4455000055_006":"Which disease can be diagnosed with the \"probe to bone\" test?","5a7617b183b0d9ea66000022_003":"What is inhibited by a drug rilotumumab?","5880b073c872c95565000003_049":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5324bdba9b2d7acc7e00001a_011":"How is bladder wall thickness measured?","54cb9c94f693c3b16b000005_004":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","532dcfc9d6d3ac6a34000021_011":"What is the characteristic domain of histone methyltransferases?","58cbb98c02b8c60953000034_011":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","58a57f9460087bc10a00001f_011":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","56c8f4615795f9a73e00001a_011":"Which genome browser database for DNA shape annotations is available?","514a0a57d24251bc05000051_005":"Which drug should be used as an antidote in benzodiazepine overdose?","5547a01cf35db75526000005_007":"In which kingdom do microsporidia belong, according to their current classification scheme?","58a57f9460087bc10a00001f_027":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","55180ef46487737b43000006_004":"What is the typical rash associated with gluten ?","5880aef4c872c95565000001_005":"What is the target of daratumumab?","55032efde9bde69634000035_013":"Which receptor is targeted by telcagepant?","530cefaaad0bf1360c000012_017":"Which deficiency is the cause of restless leg syndrome?","588f8e9794c1512c50000005_002":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","5ace19420340b9f05800000a_048":"Which gene is responsible for red hair?","58eb9542eda5a57672000007_019":"Which protein is the main marker of Cajal bodies?","550f0e4c6a8cde6b72000003_007":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","56c048acef6e39474100001c_032":"Which enzyme is inhibited by Imetelstat?","550e828c71445a662f000002_006":"Which molecule is targeted by the drug Gevokizumab?","54f9b74306d9727f76000004_016":"The drug JTV519 is derivative of which group of chemical compounds?","52ece29f98d023950500002c_001":"Which thyroid hormone transporter is implicated in thyroid hormone resistance syndrome?","56c1d857ef6e394741000033_001":"What enzyme is inhibied by Opicapone?","587e1a01fc7e8dd84f000001_005":"Which annotated database of A-to-I RNA editing is available?","5880b073c872c95565000003_012":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58f4b9d470f9fc6f0f000016_001":"What organism causes tularemia?","530cefaaad0bf1360c000012_009":"Which deficiency is the cause of restless leg syndrome?","5895f7e978275d0c4a000001_009":"What fruit causes Jamaican vomiting sickness?","5a8b1264fcd1d6a10c00001d_008":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","51596a8ad24251bc0500009e_002":"Where in the cell do we find the protein Cep135?"},"context":{"5717dbfe7de986d80d000001_018":"This novel function for DRP1 is distinct from its recognized role in regulating mitochondrial fission. ","5891f9e549702f2e01000002_031":"Reported prevalence of restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), varies from country to country, and methodologic inconsistencies limit comparison of data.","514a0a57d24251bc05000051_006":"Flumazenil is very useful in reversing benzodiazepine-induced sedation as well as to diagnose or treat benzodiazepine overdose.","5324bdba9b2d7acc7e00001a_005":"ultrasound (US) techniques to measure bladder wall thickness (BWT).","58e9e7aa3e8b6dc87c00000d_005":"RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets.","587f795d92a5b8ad44000007_001":"Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog","54e0d1491388e8454a000014_002":"AREAS COVERED: Evolocumab (AMG145) is a monoclonal antibody inhibiting the proprotein convertase subtilisin\/kexin type 9 that binds to the liver LDL receptor and prevents it from normal recycling by targeting it for degradation. ","5545186cbf90a13052000002_023":"In addition to the recognition and excision of DNA damage throughout the genome (GGR), there exists a mechanism, transcription-coupled nucleotide excision repair (TCR), for recognizing some types of DNA damage in the transcribed strand of genes in Escherichia coli, yeast and mammalian cells","56c077e9ef6e394741000021_001":"Elotuzumab is a humanized monoclonal antibody specific for signaling lymphocytic activation molecule-F7 (SLAMF7, also known as CS1, CD319, or CRACC) that enhances natural killer (NK) cell-mediated antibody-dependent cellular cytotoxicity (ADCC) of SLAMF7-expressing myeloma cells.","54db62a3034aea571d000001_011":"The sarcoplasmic reticulum Ca\ufffdz ATPase (SERCA) is a membrane-bound pump that utilizes ATP to drive calcium ions from the myocyte cytosol against the higher calcium concentration in the sarcoplasmic reticulum.","5880b073c872c95565000003_034":"With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors. ","5a68f005b750ff4455000016_012":"Dialectical behavioral therapy and schema-focused therapy also caused a soaring remission rate of diagnostic borderline personality disorder criteria of 57% and 94%, respectively.","51585b28d24251bc0500008d_013":"The maintenance methylase, DNMT1 (DNA methyltransferase 1), is a prominent enzyme in the process that is linked to DNA replication and drives the heritable nature of epigenetic modifications.","5891f9e549702f2e01000002_033":"STUDY OBJECTIVES: Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease. Although the pathogenic mechanisms of RLS are not entirely understood, it is becoming increasingly evident that many diseases such as RLS can be attributed to an epistasis.","5ace238e0340b9f05800000d_021":"Human chromosome 2 arose as a result of a telomeric fusion between acrocentric chromosomes, whereas chromosomes 4 and 19 in Gorilla gorilla are the products of a reciprocal translocation between ancestral chromosomes, syntenic to human chromosomes 5 and 17, respectively.","58d8e6818acda3452900000a_048":"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.","587e1bfdfc7e8dd84f000002_003":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species","56e6ec49edfc094c1f000005_002":"Denosumab (Dmab) is a fully human monoclonal antibody against the receptor activator of nuclear factor-\u03baB ligand (RANKL), which, through the prevention of the RANKL\/RANK interaction, inhibits osteoclast-mediated bone resorption and significantly reduces the risk of vertebral, nonvertebral, and hip fractures. ","58e7902b3e8b6dc87c000007_005":"Relationship between the type I interferon signature and the response to rituximab in rheumatoid arthritis patients.","5ace12be0340b9f058000007_015":"The expression of let-7a, miR-9, and miR-129-5p in the human fetal cerebellum is consistent with their roles in regulating FOXP2 expression during early cerebellum development.","56cb9b065795f9a73e000032_002":"The human Aurora kinases are a family of such targets. In this study, from a panel of 105 potential small-molecule inhibitors, two compounds Tripolin A and Tripolin B, inhibited Aurora A kinase activity in vitro. In human cells however, only Tripolin A acted as an Aurora A inhibitor. ","5324a8ac9b2d7acc7e000018_020":"The discovery of targeted tyrosine kinase inhibition of BCR-ABL kinase dramatically changed the treatment of CML. Imatinib, the first TKI approved for treatment of patients with Philadelphia chromosome--positive CML","53357193d6d3ac6a34000047_015":"These results suggest that the JAK inhibitor tofacitinib suppresses osteoclast-mediated structural damage to arthritic joints, and this effect is secondary to decreased RANKL production.","58adc1ff9ef3c34033000006_010":"We have earlier demonstrated association of TFIIB with the distal ends of a gene in an activator-dependent manner","589a247078275d0c4a000035_008":"Dinutuximab is a chimeric, human-murine, anti-GD2 monoclonal antibody approved in combination with granulocyte-macrophage colony-stimulating factor (GM-CSF), aldesleukin (interleukin-2 [IL-2]), and isotretinoin (13-cis-retinoic acid [RA]) for maintenance treatment of pediatric patients with high-risk neuroblastoma who achieve at least a partial response to first-line multiagent, multimodality therapy.","52bf1d9e03868f1b06000010_001":"Whether the factor has the same role in humans is of clinical interest because an inhibitor for RANKL, denosumab, is already used for the treatment of bone disease and might benefit breast cancer patients.","5ace19420340b9f05800000a_022":"The MC1R gene has many polymorphisms, some of which have been linked to variation in pigmentation phenotypes within human populations. ","5506ce078e1671127b00000b_001":" Hsp20 overexpression in intact animals resulted in significant enhancement of cardiac function, coupled with augmented Ca cycling and sarcoplasmic reticulum Ca load in isolated cardiomyocytes. This was associated with specific increases in phosphorylation of phospholamban (PLN) at both Ser16 and Thr17, relieving its inhibition of the apparent Ca affinity of SERCA2a. Accordingly, the inotropic effects of Hsp20 were abrogated in cardiomyocytes expressing nonphosphorylatable PLN (S16A\/T17A). Interestingly, the activity of type 1 protein phosphatase (PP1), a known regulator of PLN signaling, was significantly reduced by Hsp20 overexpression, suggesting that the Hsp20 stimulatory effects are partially mediated through the PP1-PLN axis. This hypothesis was supported by cell fractionation, coimmunoprecipitation, and coimmunolocalization studies, which revealed an association between Hsp20, PP1, and PLN.","55032efde9bde69634000035_005":"Telcagepant, a calcitonin gene-related peptide receptor antagonist, is being developed for the acute treatment of migraine. ","572096c90fd6f91b6800000e_010":"We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing","589a247078275d0c4a000035_011":"<b>PURPOSE<\/b>: The pharmacology, clinical efficacy, safety, dosage and administration, and role in therapy of dinutuximab for the treatment of high-risk pediatric neuroblastoma are reviewed.<br><b>SUMMARY<\/b>: Dinutuximab (Unituxin, United Therapeutics) is a novel monoclonal antibody recently approved for use in combination with granulocyte- macrophage colony-stimulating factor, interleukin-2, and isotretinoin for the treatment of pediatric patients with high-risk neuroblastoma.","589185cc621ea6ff7e00000b_019":"To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).","58861d413b87a8a738000002_002":"After correcting for multiple comparisons, no significant effects were observed on any of the outcomes among the NHW sample; however, within the NHB sample, significant gene \u00d7 environment (G \u00d7 E) interactions were observed for lifetime PTSD (P = .0029) and PTSD symptom severity (P = .0009). In each case, the APOE \u03b54 allele had no effect on the outcomes when combat exposure was low; however, when combat exposure was high, an additive effect was observed such that \u03b54 homozygotes exposed to high levels of combat reported the highest rates of PTSD (92%) and the worst symptom severity scores on the Davidson Trauma Scale (M = 79.5)","52bf1d9e03868f1b06000010_004":"Both the effects of RANKL on osteoclastogenesis and cytokine production by malignant cells could be blocked by disruption of RANK-RANKL interaction with denosumab.","5880a8ec0a76a87357000001_006":"SUMMARY: The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues.","52fa6ac72059c6d71c000055_006":" its regulatory mechanism by the transcriptional repressor, BTB and CNC homology 1 (Bach1),","5ab1483bfcf4565872000014_002":"The dentition, sense of taste and meal patterning of domestic dogs and cats can be interpreted in terms of their descent from members of the order Carnivora.","5a9dad764e03427e73000007_002":"The preDIVA trial (Prevention of Dementia by Intensive Vascular Care) was an open-label, cluster-randomized controlled trial in community-dwelling individuals aged 70 to 78 years. ","55180ef46487737b43000006_024":"Dermatitis herpetiformis (DH) is an autoimmune blistering skin disorder that is associated with gluten sensitivity","52b2e409f828ad283c00000e_002":"Antipsychotic recommendations were estimated using CDTI data in which schizophrenia was listed as the indication. RESULTS: First-generation antipsychotic (FGA) recommendations for adults with schizophrenia increased by 38% between 2005 and 2009, from 329 380 to 454 960 recommendations. There were notable increases in recommendations for chlorpromazine, loxapine, zuclopenthixol, and flupentixol.","589635dd78275d0c4a000009_004":"In cancer research, background models for mutation rates have been extensively calibrated in coding regions, leading to the identification of many driver genes, recurrently mutated more than expected. Noncoding regions are also associated with disease; however, background models for them have not been investigated in as much detail. This is partially due to limited noncoding functional annotation. Also, great mutation heterogeneity and potential correlations between neighboring sites give rise to substantial overdispersion in mutation count, resulting in problematic background rate estimation. Here, we address these issues with a new computational framework called LARVA. It integrates variants with a comprehensive set of noncoding functional elements, modeling the mutation counts of the elements with a \u03b2-binomial distribution to handle overdispersion. LARVA, moreover, uses regional genomic features such as replication timing to better estimate local mutation rates and mutational hotspots. We demonstrate LARVA's effectiveness on 760 whole-genome tumor sequences, showing that it identifies well-known noncoding drivers, such as mutations in the TERT promoter. Furthermore, LARVA highlights several novel highly mutated regulatory sites that could potentially be noncoding drivers. We make LARVA available as a software tool and release our highly mutated annotations as an online resource (larva.gersteinlab.org).","58cdb41302b8c60953000042_001":"The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. ","5324a8ac9b2d7acc7e000018_055":"Imatinib mesylate is a tyrosine kinase inhibitor with high affinity for the BCR-ABL fusion protein expressed by the hematopoietic cells in chronic myelogenous leukemia (CML).","58a57f9460087bc10a00001f_005":"Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). ","554148c23f2354b713000001_006":"These data were enriched and organised in order to populate LepChorionDB, the first relational database, available on the web, containing Lepidopteran chorion proteins grouped in A and B classes.","5a6a3464b750ff4455000026_002":"We present MARS, a new heuristic method for improving Multiple circular sequence Alignment using Refined Sequences. MARS was implemented in the C++ programming language as a program to compute the rotations (cyclic shifts) required to best align a set of input sequences. Experimental results, using real and synthetic data, show that MARS improves the alignments, with respect to standard genetic measures and the inferred maximum-likelihood-based phylogenies, and outperforms state-of-the-art methods both in terms of accuracy and efficiency. Our results show, among others, that the average pairwise distance in the multiple sequence alignment of a dataset of widely-studied mitochondrial DNA sequences is reduced by around 5% when MARS is applied before a multiple sequence alignment is performed.","5895bc397d9090f35300000b_015":"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+\/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. ","530cf4fe960c95ad0c00000b_001":"Afatinib is a small molecule covalently binding and inhibiting the EGFR, HER2 and HER4 receptor tyrosine kinases. In preclinical studies, afatinib not only inhibited the growth of models with common activating EGFR mutations, but was also active in lung cancer models harboring wild-type EGFR or the EGFR L858R\/T790M double mutant. Clinical efficacy of afatinib has been extensively studied in the LUX-Lung study program. These trials showed promising efficacy in patients with EGFR-mutant NSCLC or enriched for clinical benefit from EGFR tyrosine kinase inhibitors gefitinib or erlotinib","5519113b622b19434500000f_027":"Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene","5505a587f73303d458000005_008":"mammalian Target of Rapamycin (mTOR)","5325fdf0600967d132000001_002":"treatments such as periurethral injection of bulking agents, artificial urinary sphincter (AUS) implantation, and sub-urethral sling positioning. The artificial urethral sphincter has represented, until today, the gold standard but, in the recent years, sling systems have been investigated as minimally invasive alternative options.","52fa6ac72059c6d71c000055_009":"Bach1 is a transcriptional repressor of the HO-1 gene (Hmox-1)","5ac725250340b9f058000006_007":"This review summarizes the structure and function of circRNAs and provides evidence for the impact of ciRS-7 in promoting the development of cancer by acting as sponge of miR-7.","58d8e6818acda3452900000a_042":"FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD.","5880aef4c872c95565000001_008":"However, we discovered, next to an expected effect of effector (natural killer cells\/monocytes) to target (MM cells) ratio on ADCC, a significant association between CD38 expression and daratumumab-mediated ADCC (127 patients), as well as CDC (56 patients)","58ee0dd5eda5a57672000013_003":"Leptin, a 16-kDa protein that is mainly secreted by adipocytes, plays a protective role in many cell types","56cdf5195795f9a73e000045_007":"To verify these observations, we examined whether another Hsp90 inhibitor radicicol (RA) affected P-bodies and stress granules. Treatment with RA reduced the level of the Hsp90 client protein Argonaute 2 and the number of P-bodies.","530cf4e0c8a0b4a00c000006_001":"The most common cause of death was hypertrophic cardiomyopathy (30 %), followed by coronary artery anomalies (9 %), and myocarditis (9 %). ","54f9c40ddd3fc62544000001_015":"The activity of NFAT proteins is tightly regulated by the Ca(2+)\/calmodulin-dependent protein phosphatase 2B\/calcineurin (CaN)","51585b28d24251bc0500008d_022":"In this study, we showed that DNMT1, which encodes a methylation maintenance enzyme, is a transcriptional target of BRCA1.","56c3184050c68dd416000003_006":"[Isradipine in arterial hypertension in motor vehicle drivers].","56c048acef6e39474100001c_025":"Our results showed that imetelstat inhibited telomerase activity in a dose-dependent manner in esophageal cancer cells. ","54f89e1a06d9727f76000001_003":"CaM kinase II activation was inhibited by KN-93 pretreatment (IC(50) approximately 1 microM).","58a57f9460087bc10a00001f_033":"This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. ","5a774fdcfaa1ab7d2e000008_017":"P53-binding protein 1 (53BP1) is a multi-functional double-strand break repair protein that is essential for class switch recombination in B lymphocytes and for sensitizing BRCA1-deficient tumours to poly-ADP-ribose polymerase-1 (PARP) inhibitors. Central to all 53BP1 activities is its recruitment to double-strand breaks via the interaction of the tandem Tudor domain with dimethylated lysine 20 of histone H4 (H4K20me2). Here we identify an uncharacterized protein, Tudor interacting repair regulator (TIRR), that directly binds the tandem Tudor domain and masks its H4K20me2 binding motif. Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and recruits RAP1-interacting factor 1 (RIF1) to dissociate the 53BP1-TIRR complex. However, overexpression of TIRR impedes 53BP1 function by blocking its localization to double-strand breaks. Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1. These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.","530f900ee3eabad021000003_011":"Dystonic cerebral palsy was the most common initial clinical diagnosis, and AHDS was suspected only retrospectively, considering the characteristically abnormal thyroid function tests, with high serum tri-iodothyronine (T(3)), as the most consistent finding.","551c23bc6b348bb82c00000b_011":"To date, the number of molecular genetic factors unequivocally linked to pituitary tumours can be counted on the fingers of one hand: (1) GNAS1 activation in acromegaly; (2) the MENIN and p27Kip1 (CDKN1B) mutations associated with multiple endocrine neoplasia type 1; (3) mutations of PRKA1RA with loss of 17q22-24 in Carney complex, and (4) aryl hydrocarbon receptor interacting protein gene mutations in 15% of familial isolated pituitary adenomas and 50% of familial isolated acromegaly","56ae6e650a360a5e4500000e_007":"OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","536e46f27d100faa09000012_002":"mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease","5545186cbf90a13052000002_003":"there are two sub-pathways of nucleotide excision repair (NER), the global genome (gg) NER and the transcription-coupled repair (TCR). TCR can preferentially remove the bulky DNA lesions located at the transcribed strand of a transcriptional active gene more rapidly than those at the untranscribed strand or overall genomic DNA.","56c048acef6e39474100001c_005":"GRN163L (Imetelstat) is a lipid-conjugated N3'\u2192P5' thio-phosphoramidate oligonucleotide that blocks the template region of telomerase. ","571f5c150fd6f91b68000009_015":"The neurodegenerative disorder FRDA (Friedreich&apos;s ataxia) results from a deficiency in frataxin, a putative iron chaperone, and is due to the presence of a high number of GAA repeats in the coding regions of both alleles of the frataxin gene, which impair protein expression","56c1f02cef6e39474100004c_006":"Human telomerase reverse transcriptase (hTERT), the rate-limiting subunit of the telomerase complex, is therefore an attractive target for cancer vaccination. The present review provides an update on the development of GV1001, a peptide vaccine representing a 16-aa hTERT sequence.","55192892622b194345000012_005":"Here we show that IFNAR1 interacts with the Homolog of Slimb (HOS) F-box protein in a phosphorylation-dependent manner, and that this interaction is promoted by interferon alpha (IFNalpha). IFNAR1 is ubiquitinated by the Skp1-Cullin1-HOS-Roc1 (SCF(HOS)) ubiquitin ligase in vitro. ","5a9d31711d1251d03b00001c_001":"This number remained relatively constant while the size of the vesicles increased until they attained their maximum diamtere of 100 nm.","5880b073c872c95565000003_009":"In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. ","5891b125621ea6ff7e00000e_009":"These results support safety and efficacy of taliglucerase alfa for Gaucher disease.","55200c606b348bb82c000013_001":"Evaluation of the oral direct factor Xa inhibitor - betrixaban.","58cd90c202b8c60953000040_001":"IL-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. The balance between IL-18 and IL-18BP has an important role in the inflammatory setting.","58a6db8660087bc10a00002c_013":"The Swc4p protein, encoded by an essential gene, is shared by two chromatin-remodeling complexes in Saccharomyces cerevisiae cells: NuA4 (nucleosome acetyltransferase of H4) and SWR1.","5891f9e549702f2e01000002_035":"OBJECTIVE: Restless legs syndrome, now called Willis-Ekbom Disease (RLS\/WED), is a sensorimotor-related sleep disorder.","5895bc397d9090f35300000b_010":"Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.","58a6db8660087bc10a00002c_016":"They report that reversal of H2A.Z replacement is mediated by SWR1 and related INO80 on an H2A.Z nucleosome carrying H3K56Q.","5147c088d24251bc05000026_007":"We report a case of small-cell lung cancer (SCLC) presenting with LEMS and ventilatory failure in a 67-year-old man who initially presented with progressive limb weakness for 6 months and tachypnea with shallow breathing for 1 week.","58cbb98c02b8c60953000034_030":"BACKGROUND: Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.","51585b28d24251bc0500008d_016":"We found that DNA methylation was maintained only when exogenous DNA methyltransferase 1 (DNMT1) and S-adenosyl methionine (SAM) were added to the reaction.","58cbb98c02b8c60953000034_045":"Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100). ","56d1f790f22319765a000001_006":"Two types of epidermal growth factor receptor (EGFR) mutations in exon 19 and exon 21 (ex19del and L858R) are prevalent in lung cancer patients and sensitive to targeted EGFR inhibition. A resistance mutation in exon 20 (T790M) has been found to accompany drug treatment when patients relapse. ","58a32edd60087bc10a000012_008":"Contrave, a bupropion and naltrexone combination therapy for the potential treatment of obesity.","550ea8f1b305b40c5c000005_004":"Regional cerebral glucose metabolism after pridopidine (ACR16) treatment in patients with Huntington disease.","56c1f020ef6e394741000047_001":"Of the 91 patients, there were 50 patients with ILAE focal cortical dysplasia type Ib, 41 with ILAE focal cortical dysplasia type Ic, 63 with Palmini et al focal cortical dysplasia type IA, and 28 with Palmini et al focal cortical dysplasia type IB. ","56d1f790f22319765a000001_016":"Approximately 50% of cases of acquired resistance (AR) are due to a secondary T790M mutation in exon 20 of the EGFR gene;","5a7877c0faa1ab7d2e00000c_007":"Corticosteroids remain the first-line therapy for sarcoidosis as many patients never require treatment or only necessitate a short treatment duration.","58a8903b38c171fb5b000006_001":"nocodazole-triggered mitotic arrest.","56bc77a3ac7ad10019000015_028":"This article provides a summary of the discussions, conclusions and recommendations from that meeting.Meeting sessions included: a review of the efficacy of artemisinin-based combination therapy in Guyana and Suriname; the outcomes from a consultation on non-malaria febrile illness; the outcomes from the second meeting of the Evidence Review Group on malaria burden estimation; an update on the review of the WHO Guidelines for the Treatment of Malaria; an update regarding progress on the constitution of the vector control Technical Expert Group; updates on the RTS, S\/AS01 vaccine and the malaria vaccine technology roadmap; financing and resource allocation for malaria control; malaria surveillance and the need for a surveillance, monitoring and evaluation Technical Expert Group; criteria and classification related to malaria elimination; the next meeting of the Evidence Review Group on Intermittent Preventive Treatment in pregnancy; an update on the soon-to-be launched Elimination Scenario Planning Tool; and an update on the process for the Global Technical Strategy for Malaria Control and Elimination (2016-2025).Policy statements, position statements, and guidelines that arise from the MPAC meeting conclusions and recommendations will be formally issued and disseminated to World Health Organization Member States by the World Health Organization Global Malaria Programme.","56ed0ffe2ac5ed1459000008_001":"The disease focus for all the proteasome inhibitors is multiple myeloma.","5a68f448b750ff4455000018_008":"corynebacterium minutissimum is the bacteria that leads to cutaneous eruptions of erythrasma and is the most common cause of interdigital foot infections it is found mostly in occluded intertriginous areas such as the axillae inframammary areas interspaces of the toes intergluteal and crural folds and is more common in individuals with diabetes mellitus than other clinical patients this organism can be isolated from a cutaneous site along with a concurrent dermatophyte or candida albicans infection the differential diagnosis of erythrasma includes psoriasis dermatophytosis candidiasis and intertrigo and methods for differentiating include wood s light examination and bacterial and mycological cultures erythromycin 250mg four times daily for 14 days is the treatment of choice and other antibacterials include tetracycline and chloramphenicol however the use of chloramphenicol is limited by bone marrow suppression potentially leading to neutropenia agranulocytosis and aplastic anaemia further studies are needed but clarithromycin may be an additional drug for use in the future where there is therapeutic failure or intertriginous involvement topical solutions such as clindamycin whitfield s ointment sodium fusidate ointment and antibacterial soaps may be required for both treatment and prophylaxis limited studies on the efficacy of these medications exist however systemic erythromycin demonstrates cure rates as high as 100 compared with tetracyclines systemic erythromycin has greater efficacy in patients with involvement of the axillae and groin and similar efficacy for interdigital infections whitfield s ointment has equal efficacy to systemic erythromycin in the axillae and groin but shows greater efficacy in the interdigital areas and is comparable with 2 sodium fusidate ointment for treatment of all areas adverse drug effects and potential drug interactions need to be considered no cost effectiveness data are available but there are limited data on cost related treatment issues a guideline is proposed for the detection evaluation treatment and prophylaxis of this cutaneous eruption.","55032efde9bde69634000035_019":"Telcagepant is a novel, orally active, and selective calcitonin gene-related peptide receptor antagonist being developed for acute treatment of migraine with and without aura. ","5ace238e0340b9f05800000d_002":"The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2.","531464a6e3eabad021000014_045":"A spontaneous novel XK gene mutation in a patient with McLeod syndrome.","5717dbfe7de986d80d000001_022":"We highlight posttranslational modifications of the mitochondrial fission protein Drp1, for which these regulatory mechanisms are best characterized.","533be71dfd9a95ea0d000009_011":"effectors of H3K4 methylation is mixed-lineage leukemia 1 (MLL1)","56bc77a3ac7ad10019000015_029":"This article provides a summary of the discussions, conclusions and recommendations from that meeting.Meeting sessions included: a review of the efficacy of artemisinin-based combination therapy in Guyana and Suriname; the outcomes from a consultation on non-malaria febrile illness; the outcomes from the second meeting of the Evidence Review Group on malaria burden estimation; an update on the review of the WHO Guidelines for the Treatment of Malaria; an update regarding progress on the constitution of the vector control Technical Expert Group; updates on the RTS, S\/AS01 vaccine and the malaria vaccine technology roadmap; financing and resource allocation for malaria control; malaria surveillance and the need for a surveillance, monitoring and evaluation Technical Expert Group; criteria and classification related to malaria elimination; the next meeting of the Evidence Review Group on Intermittent Preventive Treatment in pregnancy; an update on the soon-to-be launched Elimination Scenario Planning Tool; and an update on the process for the Global Technical Strategy for Malaria Control and Elimination (2016-2025).Policy statements, position statements, and guidelines that arise from the MPAC meeting conclusions and recommendations will be formally issued and disseminated to World Health Organization Member States by the World Health Organization Global Malaria Programme.","53440d2caeec6fbd07000004_003":"After suppression subtractive hybridization and differential screening, we detected the metastasis-associated lung adenocarcinoma transcript 1 (MALAT-1) gene as one of the major genes upregulated in ESS","5a6d196db750ff4455000032_003":"Thus, these subpallial enhancer transgenic lines are data and tool\u00a0resources to study transcriptional regulation of GABAergic cell fate.","58b6978822d300530900000a_004":"A pathological hallmark in the brain of an AD patient is extracellular amyloid plaques formed by accumulated beta-amyloid protein (Abeta), a metabolic product of amyloid precursor protein (APP). Studies have revealed a strong genetic linkage in the early-onset familial form (<60 years old) of AD. For example, some mutant APPs are transmitted dominantly and are segregated with inheritance of early onset AD. These mutants facilitate Abeta production. The \"Swedish\" mutations (APP(SW)) and the \"London\" mutation (APP(LON)) are examples of these mutants. ","5a8b1264fcd1d6a10c00001d_007":"Fusarium wilt of tomato caused by F. oxysporum f. sp. lycopersici. ","587f760792a5b8ad44000005_001":"We developed JAMM (Joint Analysis of NGS replicates via Mixture Model clustering): a peak finder that can integrate information from biological replicates, determine enrichment site widths accurately and resolve neighboring narrow peaks. JAMM is a universal peak finder that is applicable to different types of datasets. We show that JAMM is among the best performing peak finders in terms of site detection accuracy and in terms of accurate determination of enrichment sites widths. In addition, JAMM's replicate integration improves peak spatial resolution, sorting and peak finding accuracy.","58cbb98c02b8c60953000034_053":"Tyrosinase (EC 1.14.18.1) is a copper-containing enzyme that catalyzes several reactions in the biosynthesis of melanin pigments and is deficient in patients with type I oculocutaneous albinism (OCA1).","589a246078275d0c4a00002a_014":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks","5a4e50b242878bf97d000001_013":"Disruption of one copy of the gene in a diploid yeast creates a recessive lethal mutation, indicating that the single DNA topoisomerase II gene of yeast has an essential function..","55054f8af73303d458000002_014":"Species identification by analysis of bone collagen using matrix-assisted laser desorption\/ionisation time-of-flight mass spectrometry.","5ace12be0340b9f058000007_003":"Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.","54db62a3034aea571d000001_009":"Three different SERCA genes were identified-SERCA1, SERCA2, and SERCA3. SERCA is mainly represented by the SERCA2a isoform in the heart.","589a247078275d0c4a000035_023":"Dinutuximab (ch14.18; Unituxin\u2122) is a chimeric human-mouse monoclonal antibody that binds to the glycolipid antigen disialoganglioside, which is highly expressed on the surface of neuroblastoma cells.","5895bc397d9090f35300000b_014":"A novel mutation in the endosomal Na+\/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).","56c1f00def6e39474100003f_002":"We evaluated whether endothelial function is attenuated after PCI and if inhibition of secretory phospholipase A2 (sPLA2) activity augments endothelial function and coronary flow reserve (CFR) in these patients.METHODS: In the sPLA2 Inhibition to Decrease Enzyme Release After Percutaneous Coronary Intervention (SPIDER-PCI) study, patients undergoing elective PCI were randomized to receive Varespladib (Anthera Pharmaceuticals Inc, San Mateo, CA), an inhibitor of sPLA2, or placebo 3-5 days prior to PCI and for 5 days after PCI. ","5313058de3eabad02100000e_003":"Radiofrequency sensory ablation as a treatment for symptomatic unilateral lumbosacral junction pseudarticulation (Bertolotti's syndrome): a case report.","51387022bee46bd34c000002_003":"Animal genomes possess highly conserved cis-regulatory sequences that are often found near genes that regulate transcription and development.","5343fc1aaeec6fbd07000003_040":"type 1 (NF1) gene is a tumor suppressor gene, and the NF1 gene product, neurofibromin","5890e163621ea6ff7e000004_010":"Nerve safety of tanezumab, a nerve growth factor inhibitor for pain treatment.","530f900ee3eabad021000003_003":"Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. ","550e828c71445a662f000002_013":"In the present study, we measured the impact of gevokizumab on the IL-1\u03b2 system using Schild analysis and surface plasmon resonance studies, both of which demonstrated that gevokizumab decreases the binding affinity of IL-1\u03b2 for the IL-1 receptor type I (IL-1RI) signaling receptor, but not the IL-1 counter-regulatory decoy receptor (IL-1 receptor type II).","533ea8fcc45e133714000010_016":"3'-untranslated regions of selenoprotein genes contain a common stem-loop structure, selenocysteine insertion sequence (SECIS) element, that is necessary for decoding UGA as selenocysteine","58861d413b87a8a738000002_009":"Remission in post-traumatic stress disorder (PTSD): effects of sertraline as assessed by the Davidson Trauma Scale, Clinical Global Impressions and the Clinician-Administered PTSD scale.","5353aedb288f4dae47000006_026":" imprinted mouse Xist (X-inactive specific transcript) gene is involved in the initiation of X-chromosome inactivation","58eb99f3eda5a57672000009_006":"Do centromeres ensure their early replication by promoting early activation of nearby origins, or have they migrated over evolutionary time to reside in early replicating regions? In Candida albicans, a neocentromere contains an early firing origin, supporting the first hypothesis but not addressing whether the new origin is intrinsically early firing or whether the centromere influences replication time.","58a644e560087bc10a000027_001":" These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.","587e2300fc7e8dd84f000004_002":"We have therefore developed the MethPed classifier, which is a multiclass random forest algorithm, based on DNA methylation profiles from many subgroups of pediatric brain tumors","5a871a6861bb38fb24000009_007":"patients with ALK-positive non-small-cell lung cancer.","5a67b2f7b750ff445500000f_002":"Valsalva leak point pressure-associated Q-tip angle and simple female stress urinary incontinence symptoms.","56bc77a3ac7ad10019000015_004":"BACKGROUND: The efficacy and safety of the RTS,S\/AS01 candidate malaria vaccine during 18 months of follow-up have been published previously. ","56b7083376d8bf8d13000001_003":"Fusarium oxysporum f. sp. cubense race 4 (FOC), the causal agent of Panama disease in banana,","56c1d856ef6e394741000032_005":"Ficolin-3 (Hakata antigen or H-ficolin) is a soluble pattern recognition molecule in the lectin complement pathway.","531464a6e3eabad021000014_003":"We performed a comprehensive mutation screen of VPS13A and XK, the gene responsible for ChAc and MLS, respectively, in 85 mood disorder subjects and XK in 86 schizophrenia subjects and compared the variants to 100 or more control alleles.","571e12097de986d80d000017_002":"AIMS: Empagliflozin is a selective sodium glucose cotransporter 2 (SGLT2) inhibitor that inhibits renal glucose reabsorption and is being investigated for the treatment of type 2 diabetes mellitus (T2DM). ","51588bb2d24251bc05000091_001":"Increased risk for MCMs could be demonstrated only for exposure to valproate (5.6%, p = 0.005) and AED polytherapy (6.1%, p = 0.02). Neonatal spina bifida was not significantly increased, but was a major indication for elective pregnancy termination among women with epilepsy. ","51631154298dcd4e5100004e_009":"Bortezomib, indicated for multiple myeloma (MM) treatment, is available in 3.5-mg vials, a quantity higher than the average dose commonly prescribed.","5880dba9c872c95565000009_006":"After noting an inverse correlation with sensitivity to ribociclib (CDK4\/6 inhibitor), we studied the combinatorial effect of these two agents using proliferation assays, cell cycle analysis, Ki67 immunostaining, timelapse microscopy and xenograft studies.","58a32efe60087bc10a000013_071":"methicillin-resistant Staphylococcus aureus (MRSA).","58eb9542eda5a57672000007_032":"We have constructed a stable HeLa cell line, HeLa(GFP-coilin), that expresses the Cajal body marker protein, p80 coilin, fused to the green fluorescent protein (GFP-coilin).","5ace19420340b9f05800000a_013":"We describe a minisequencing protocol for screening DNA samples for the presence of 12 mutations in the human melanocortin 1 receptor gene (MC1R), eight of which are associated with the red hair phenotype","5ad6e431133db5eb7800000e_004":"Basque students (174 males and 218 females), using the Ishihara test cards (1987).","5a7877c0faa1ab7d2e00000c_010":"Corticosteroids still remain first-line therapy in sarcoidosis.","58cbb98c02b8c60953000034_034":"Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified","54e0c3e71388e8454a000013_010":"In terms of human CYP17A1 and human adrenal tumor cells, orteronel inhibited 17,20-lyase activity 5.4 times more potently than 17-hydroxylase activity in cell-free enzyme assays and DHEA production 27 times more potently than cortisol production in human adrenal tumor cells, suggesting greater specificity of inhibition between 17,20-lyase and 17-hydroxylase activities in humans vs monkeys.","5708a845cf1c32585100000f_001":"Wnt signaling is known to be important for diverse embryonic and post-natal cellular events and be regulated by the proteins Dishevelled and Axin. Although Dishevelled is activated by Wnt and involved in signal transduction, it is not clear how Dishevelled-mediated signaling is turned off. ","56d138fe3975bb303a000015_001":"The beet Y locus encodes an anthocyanin MYB-like protein that activates the betalain red pigment pathway.","516e7fda298dcd4e51000081_002":"Angiosperms synthesize S-methylmethionine (SMM) from methionine (Met) and S-adenosylmethionine (AdoMet) in a unique reaction catalyzed by Met S-methyltransferase (MMT). SMM serves as methyl donor for Met synthesis from homocysteine, catalyzed by homocysteine S-methyltransferase (HMT).","54cb9c94f693c3b16b000005_018":"SERCA2a activity is regulated by phosphorylation of another SR protein: Phospholamban (PLN). Dephosphorylated PLN inhibits SERCA2a. Phosphorylation of PLN by either cAMP or cGMP-dependent protein kinase at Ser16 or the Ca2+-calmodulin-dependent protein kinase (CaMKII), at Thr17, relieves this inhibition, increasing SR Ca2+ uptake and SR Ca2+ load.","56e0447a51531f7e3300000b_006":"Subviral pathogens of plants: viroids and viroidlike satellite RNAs.","53357193d6d3ac6a34000047_024":"To compare the efficacy, safety, and tolerability of 6 dosages of oral tofacitinib (CP-690,550) with placebo for the treatment of active rheumatoid arthritis (RA) in patients receiving a stable background regimen of methotrexate (MTX) who have an inadequate response to MTX monotherapy. ","530f900ee3eabad021000003_018":"Mct8 transports thyroid hormones (T4 and T3), and the Allan-Herndon-Dudley syndrome is likely caused by lack of T3 transport to neurons during critical periods of fetal brain development. ","56c04412ef6e39474100001b_018":"Towards effective immunotherapy of myeloma: enhanced elimination of myeloma cells by combination of lenalidomide with the human CD38 monoclonal antibody daratumumab.","589a247078275d0c4a000035_001":"PURPOSE: Dinutuximab (Unituxin\u2122; ch14.18), a monoclonal antibody against disialoganglioside, improved survival as part of post-consolidation therapy for high-risk neuroblastoma.","55032efde9bde69634000035_002":"Telcagepant (MK-0974) is a novel calcitonin gene-related peptide (CGRP) receptor antagonist currently undergoing clinical trials for migraine (http:\/\/www.merck.com\/research\/pipeline\/home.html).","589a246078275d0c4a00002a_025":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","511a3573df1ebcce7d000018_008":"Project to perform in silico analyses of the expression pattern of the 15 human KLK genes in normal and cancerous ovarian tissues and cell lines.","589185cc621ea6ff7e00000b_013":"BACKGROUND: Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy.METHODS: This open-label, phase 2, escalating dose clinical study assessed the safety and tolerability, pharmacokinetics, and clinical efficacy of multiple intrathecal doses of nusinersen (6 mg and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy. ","56f564f909dd18d46b000009_009":"The Chediak-Higashi syndrome (CHS), a life-threatening autosomal recessive disease with frequent mutations in the LYST gene, and its animal model, the beige mouse, are both characterized by lysosomal defects with accumulation of giant lysosomes","5a79d0b8faa1ab7d2e00000d_007":"DNA replication is a primary mechanism for maintaining genome integrity, but it serves this purpose best by cooperating with other proteins involved in DNA repair and recombination. Unlike leading strand synthesis, lagging strand synthesis has a greater risk of faulty replication for several reasons: First, a significant part of DNA is synthesized by polymerase alpha, which lacks a proofreading function. Second, a great number of Okazaki fragments are synthesized, processed and ligated per cell division.","52f89fc62059c6d71c000050_001":"The nanostructures target the cells with high affinity and specificity via the specific interaction between the aptamer (a 45-base oligonucleotide) and the cell, and distinguish A549 cells from other types of cancer cells (HeLa and MCF-7 cells) and subtypes of lung cancer cells (NCI-H157, NCI-H520, NCI-H1299, and NCI-H446 cells). ","517170c48ed59a060a00000d_001":"The human selenoproteome consists of 25 selenoproteins.","5519113b622b19434500000f_013":"A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype","589185cc621ea6ff7e00000b_010":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.","5a804f71faa1ab7d2e00001d_002":"Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision medicine. We developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length. We applied our algorithm to WGS data from 3001 ALS patients who have been tested for the presence of theC9orf72repeat expansion with repeat-primed PCR (RP-PCR). Compared against this truth data, ExpansionHunter correctly classified all (212\/212, 95% CI [0.98, 1.00]) of the expanded samples as either expansions (208) or potential expansions (4). Additionally, 99.9% (2786\/2789, 95% CI [0.997, 1.00]) of the wild-type samples were correctly classified as wild type by this method with the remaining three samples identified as possible expansions. We further applied our algorithm to a set of 152 samples in which every sample had one of eight different pathogenic repeat expansions, including those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and correctly flagged all but one of the known repeat expansions. Thus, ExpansionHunter can be used to accurately detect known pathogenic repeat expansions and provides researchers with a tool that can be used to identify new pathogenic repeat expansions.","5a6d1733b750ff4455000030_001":"Here we present the Limb-Enhancer Genie (LEG), a collection of highly accurate, genome-wide predictions of enhancers in the developing limb, available through a user-friendly online interface. We predict limb enhancers using a combination of>50 published limb-specific datasets and clusters of evolutionarily conserved transcription factor binding sites, taking advantage of the patterns observed at previously in vivo validated elements.","56bc7d71ac7ad10019000018_007":"This finding suggests that delamanid could enhance treatment options for multidrug-resistant tuberculosis. ","5710e131a5ed216440000001_016":"Using pulsed-field gel electrophoresis (PFGE), we have demonstrated clonal variation in the size of chromosome XII in a diploid strain of Saccharomyces cerevisiae X2180-2D.","5a7237672dc08e987e000008_011":"A randomised study in healthy volunteers to investigate the safety, tolerability and pharmacokinetics of idarucizumab, a specific antidote to dabigatran.","5a896c26fcd1d6a10c000007_011":"DBA is a heterogeneous disorder, caused in about 25% of cases by heterozygous mutations in the RPS19 gene (DBA1)","5884c72fe56acf517600000f_002":"We then focus on the recent breakthrough work concerning the structural basis of the PD-1\/PD-Ls interaction and how therapeutic antibodies, pembrolizumab targeting PD-1 and avelumab targeting PD-L1, compete with the binding of PD-1\/PD-L1 to interrupt the PD-1\/PD-L1 interaction. ","56c048acef6e39474100001c_003":"Imetelstat inhibited telomerase activity in both subpopulations. ","5880b812c872c95565000006_010":"Dapivirine demonstrated potent dose-dependent inhibitory effects against a broad panel of HIV type 1 isolates from different clades.","54db62a3034aea571d000001_002":"the sarco\/endoplasmic reticulum Ca(2+)-ATPase (SERCA)","5ace238e0340b9f05800000d_011":"Human chromosome 2 is a product of a telomere fusion of two ancestral chromosomes and loss\/degeneration of one of the two original centromeres.","571f33bd0fd6f91b68000003_005":"Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.","5717d64f29809bbe7a000001_004":"We find that Mgm1\/OPA1 is localized to the mitochondrial intermembrane space,","587e2300fc7e8dd84f000004_007":"e developed an R package that implements the MethPed classifier, making it easily available and accessible. The package can be used for estimating the probability that an unknown sample belongs to each of nine pediatric brain tumor diagnoses\/subgroups","56c1f020ef6e394741000047_005":"Crude analysis revealed no significant difference between patients with subtypes of ILAE focal cortical dysplasia type I or Palmini et al focal cortical dysplasia type I concerning postoperative outcome according to the Engel and ILAE scoring systems on seizure frequency. Our findings revealed no significant difference concerning surgical outcome with respect to seizure frequency for the histologic subtypes of ILAE focal cortical dysplasia type I (Ib vs Ic) or Palmini et al focal cortical dysplasia type I (IA vs IB).","551fd9c06b348bb82c000012_018":"DIAGNOSTIC SCALES: The results of an assessment with the Recognition of Stroke in the Emergency Room (ROSIER) scale, the Face Arm Speech Test (FAST) scale and the diagnosis of definite or probable stroke by an emergency department.","56d85e7751531f7e33000001_001":"Feline leukemia virus subgroup C receptor (FLVCR1), a member of the SLC49 family of four paralogous genes, is a cell surface heme exporter, essential for erythropoiesis and systemic iron homeostasis.","5118dd1305c10fae75000001_004":"RA in LAC women is not only more common but presents with some clinical characteristics that differ from RA presentation in men. Some of those characteristics could explain the high rates of disability and worse prognosis observed in women with RA in LAC","587e0116ae05ffb474000002_004":" CisMapper also predicts which TF binding sites regulate a given gene more accurately than using genomic distance. Unlike distance-based methods, CisMapper can predict which transcription start site of a gene is regulated by a particular binding site of the TF","52bf1b0a03868f1b06000009_002":" The inheritance is autosomal recessive. ","5a761ac3aacfb9cd4c000002_008":"<b>INTRODUCTION<\/b>: Doege-Potter syndrome is a paraneoplastic syndrome characterized by non-islet cell tumor hypoglycemia secondary to a solitary fibrous tumor.","5a6e3155b750ff445500003f_002":"Identifying molecular cancer subtypes from multi-omics data is an important step in the personalized medicine. We introduce CancerSubtypes, an R package for identifying cancer subtypes using multi-omics data, including gene expression, miRNA expression and DNA methylation data. CancerSubtypes integrates four main computational methods which are highly cited for cancer subtype identification and provides a standardized framework for data pre-processing, feature selection, and result follow-up analyses, including results computing, biology validation and visualization. The input and output of each step in the framework are packaged in the same data format, making it convenience to compare different methods. The package is useful for inferring cancer subtypes from an input genomic dataset, comparing the predictions from different well-known methods and testing new subtype discovery methods, as shown with different application scenarios in the Supplementary Material.","550f0e4c6a8cde6b72000003_030":"Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candidate gene as causative of FSHD. However, DUX4 expression is extremely low in FSHD muscle, and there is no DUX4 animal model that mirrors the pathology in human FSHD. Here, we show that the misexpression of very low levels of human DUX4 in zebrafish development recapitulates the phenotypes seen in human FSHD patients.","52fe52702059c6d71c000078_001":"Heterozygous and homozygous Cenpa-GFP fusion-protein mouse mutants, generated through targeted insertion of the green fluorescent protein (GFP) gene into the mouse Cenpa gene locus, show specific localized fluorescence at all the centromeres.","5a679e8cb750ff4455000006_010":"This report summarizes the clinical course of disease in that patient, who was treated using the Milwaukee Protocol, an experimental treatment protocol similar to one used for the rabies survivor described in 2005.","5147c088d24251bc05000026_006":"Radiological, bronchoscopic and histological investigations revealed small-cell lung cancer, and neurophysiological investigations confirmed a diagnosis of LEMS.","54d8fd334b1fd0d33c000005_001":"A peptide vaccine, rindopepimut (CDX-110, Celldex Therapeutics), is directed against the novel exon 1-8 junction produced by the EGFRvIII deletion, and it has shown high efficacy in preclinical models. ","58adc1ff9ef3c34033000006_008":" We propose that the activators facilitate gene looping through their interaction with TFIIB during transcriptional activation of genes.","530cefaaad0bf1360c000012_022":"Iron deficiency in the central nervous system is known to cause motor impairment and cognitive deficits; more recently, it has been suggested that it may play a role in the pathophysiology of the restless leg syndrome. ","571e2beabb137a4b0c000006_003":"Of particular interest is OCT3 expression and function in the brain, where it plays a role in serotonin clearance and influences mood and behavior","5a896c26fcd1d6a10c000007_005":"Mutations in the gene encoding ribosomal protein S19 (RPS19) have been identified in approximately 25% of DBA families.","5547a01cf35db75526000005_008":"The unique genomic hallmarks between microsporidia and fungi are independent of sequence based phylogenetic comparisons and further contribute to define the borders of the fungal kingdom and support the classification of microsporidia as unusual derived fungi.","5a6a3335b750ff4455000025_005":"Results We present emMAW, the first external-memory algorithm for computing minimal absent words.","54f35ad864850a5854000004_005":" The \u03b3-secretase inhibitor LY450139 (semagacestat) lowers plasma A\u03b2(1-40) and A\u03b2(1-42) in a dose-dependent manner but has no clear effect on the CSF level of these isoforms. ","54f9c40ddd3fc62544000001_002":"Calcineurin signaling has been implicated in a broad spectrum of developmental processes in a variety of organ systems. Calcineurin is a calmodulin-dependent, calcium-activated protein phosphatase composed of catalytic and regulatory subunits. The serine\/threonine-specific phosphatase functions within a signal transduction pathway that regulates gene expression and biological responses in many developmentally important cell types. Calcineurin signaling was first defined in T lymphocytes as a regulator of nuclear factor of activated T cells (NFAT) transcription factor nuclear translocation and activation.","589a246078275d0c4a00002a_041":"In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial.","550f0e4c6a8cde6b72000003_039":"Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed in FSHD but not control myoblasts. DUX4 and its target genes contribute to the global dysregulation of gene expression observed in FSHD. ","5a774fdcfaa1ab7d2e000008_003":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","56cdf5195795f9a73e000045_003":"Hsp90 regulates the function of argonaute 2 and its recruitment to stress granules and P-bodies","58a32edd60087bc10a000012_006":"Contrave, under development by Orexigen Therapeutics Inc for the potential treatment of obesity, is an oral, sustained-release combination of the dopamine and norepinephrine reuptake antagonist bupropion and the opioid antagonist naltrexone.","52bf1f1303868f1b06000014_008":"After 5 Gy irradiation, the relative abundance of peroxiredoxin 2, an antioxidant enzyme, and latexin, an inhibitor of carboxypeptidase, increased. ","58bca2f302b8c6095300000c_013":"X monosomic mice (39,XO) have a remarkably mild phenotype when compared to women with Turner syndrome (45,XO).","58eb9542eda5a57672000007_016":"Coilin is a marker protein for the Cajal body, a subnuclear domain acting as a site for assembly and maturation of nuclear RNA-protein complexes.","56c04412ef6e39474100001b_020":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. ","552fac4fbc4f83e828000006_005":"The Ewing family of tumors harbors chromosomal translocations that join the N-terminal region of the EWS gene with the C-terminal region of several transcription factors of the ETS family, mainly FLI1, resulting in chimeric transcription factors that play a pivotal role in the pathogenesis of Ewing tumors. To identify downstream targets of the EWS\/FLI1 fusion protein, we established 293 cells expressing constitutively either the chimeric EWS\/FLI1 or wild type FLI1 proteins and used cDNA arrays to identify genes differentially regulated by EWS\/FLI1","5a6d08d5b750ff445500002c_002":"The stapled Sld5 peptide was able to displace the Ctf4 partner DNA polymerase\u2005\u03b1 from the replisome in yeast extracts.","56ecfd572ac5ed1459000002_009":"Carfilzomib and its orally bioavailable analog oprozomib, effectively decreased MM cell viability following continual or transient treatment mimicking in vivo pharmacokinetics. ","58a6db8660087bc10a00002c_008":"This incorporation is mediated by the conserved SWR1 complex, which replaces histone H2A in canonical nucleosomes with H2A.Z in an ATP-dependent manner. ","5891b125621ea6ff7e00000e_011":"Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease.","58cbb98c02b8c60953000034_036":"TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family","54e0d1491388e8454a000014_010":"BACKGROUND: Evolocumab, a fully human monoclonal antibody against proprotein convertase subtilisin\/kexin type 9 (PCSK9), significantly reduced LDL-C in phase II trials. ","56c1f009ef6e39474100003c_001":"Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.","56ae6e650a360a5e4500000e_003":"We report the development of OikoBase (http:\/\/oikoarrays.biology.uiowa.edu\/Oiko\/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates. OikoBase facilitates retrieval and mining of a variety of useful genomics information. First, it includes a genome browser which interrogates 1260 genomic sequence scaffolds and features gene, transcript and CDS annotation tracks. Second, we annotated gene models with gene ontology (GO) terms and InterPro domains which are directly accessible in the browser with links to their entries in the GO (http:\/\/www.geneontology.org\/) and InterPro (http:\/\/www.ebi.ac.uk\/interpro\/) databases, and we provide transcript and peptide links for sequence downloads. Third, we introduce the transcriptomics of a comprehensive set of developmental stages of O. dioica at high resolution and provide downloadable gene expression data for all developmental stages. Fourth, we incorporate a BLAST tool to identify homologs of genes and proteins. Finally, we include a tutorial that describes how to use OikoBase as well as a link to detailed methods, explaining the data generation and analysis pipeline. OikoBase will provide a valuable resource for research in chordate development, genome evolution and plasticity and the molecular ecology of this important marine planktonic organism.","58bfd8e902b8c60953000018_004":"More than half of the patients with necrobiosis lipoidica diabeticorum have diabetes mellitus, but less than one per cent of diabetes mellitus patients have necrobiosis lipoidica diabeticorum.","5a76179d83b0d9ea66000021_003":"Whole-genome sequencing (WGS) data are being generated at an unprecedented rate. Analysis of WGS data requires a flexible data format to store the different types of DNA variation. Variant call format (VCF) is a general text-based format developed to store variant genotypes and their annotations. However, VCF files are large and data retrieval is relatively slow. Here we introduce a new WGS variant data format implemented in the R\/Bioconductor package 'SeqArray' for storing variant calls in an array-oriented manner which provides the same capabilities as VCF, but with multiple high compression options and data access using high-performance parallel computing.Results: Benchmarks using 1000 Genomes Phase 3 data show file sizes are 14.0\u2009Gb (VCF), 12.3\u2009Gb (BCF, binary VCF), 3.5\u2009Gb (BGT) and 2.6\u2009Gb (SeqArray) respectively. Reading genotypes in the SeqArray package are two to three times faster compared with the htslib C library using BCF files. For the allele frequency calculation, the implementation in the SeqArray package is over 5 times faster than PLINK v1.9 with VCF and BCF files, and over 16 times faster than vcftools. When used in conjunction with R\/Bioconductor packages, the SeqArray package provides users a flexible, feature-rich, high-performance programming environment for analysis of WGS variant data.","532dcfc9d6d3ac6a34000021_003":"A common feature of the mammalian MLL\/SET1 complexes is the presence of three core components (RbBP5, Ash2L and WDR5) and a catalytic subunit containing a SET domain","5a735b383b9d13c708000002_001":"Patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a progressive disease associated with significant disability, morbidity, and mortality.","58eb9542eda5a57672000007_009":"The Cajal body has now regained the interest of biologists, due to the isolation of a protein marker, coilin.","5a690487b750ff445500001f_006":"The evaluated diagnostic methods were real-time PCR (RT-PCR), IgM\/IgG antibodies measured with different assays [measurement of Epstein-Barr virus viral load (EBV-VL) in peripheral blood, neutrophil\/lymphocyte\/monocyte counts, C-reactive protein values, and monospot test]. ","5891f9e549702f2e01000002_013":"Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease","5a774fdcfaa1ab7d2e000008_002":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5a6e42f1b750ff4455000046_002":"Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner.","5710e131a5ed216440000001_013":"We studied the largest yeast chromosome XII, which contains the rDNA locus, and we investigated its instability using cell cycle checkpoint-, DNA damage- and antioxidative defence-deficient, and lifespan-deregulated yeast mutant strains.","589a246078275d0c4a00002a_008":"METHODS: In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial. ","58d8e6818acda3452900000a_028":"Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes","5891f9e549702f2e01000002_029":"Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease.","5a679e8cb750ff4455000006_012":"BACKGROUND Human rabies infection continues to be a significant public health burden globally, and is occasionally imported to high income settings where the Milwaukee Protocol for intensive care management has recently been employed, with limited success in improving survival.","532dcfc9d6d3ac6a34000021_019":" Unlike other histone methyltransferases, Dot1 does not contain a SET domain,","54f9cb34dd3fc62544000002_004":"The HS-1 associated protein X-1 (HAX-1) is a ubiquitously expressed protein that protects cardiomyocytes from programmed cell death. Here we identify HAX-1 as a regulator of contractility and calcium cycling in the heart. HAX-1 overexpression reduced sarcoplasmic reticulum Ca-ATPase (SERCA2) pump activity in isolated cardiomyocytes and in vivo, leading to depressed myocyte calcium kinetics and mechanics.","55421ee7ccca0ce74b000002_044":"The tumor suppressor protein, p53, is often referred to as the guardian of the genome","589185cc621ea6ff7e00000b_004":"Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.","52bf1d9e03868f1b06000010_010":"New therapies such as the antibody to RANKL (denosumab) are undergoing phase III clinical testing. ","52f21b722059c6d71c00000b_001":"Breast cancers in TP53 mutation carriers recently have more often been reported to be hormone receptor and HER-2 positive by immunohistochemistry and FISH in small series.","56cdf5195795f9a73e000045_004":"Hsp90 regulates the function of argonaute 2 and its recruitment to stress granules and P-bodies.","58a5a51060087bc10a000021_012":"Reactive oxygen species (ROS) production by NADPH oxidase 1 (NOX1), which is mainly expressed in colon epithelial cells, requires the membrane-bound component p22(PHOX) and the cytosolic partners NOX organizer 1 (NOXO1), NOX activator 1 (NOXA1), and Rac1.","58861d413b87a8a738000002_020":"We also investigated the interaction between the genetic variants to determine whether these variables and the interactions between the variables influenced the severity of PTSD symptoms.PTSD symptoms were quantitatively assessed using the Davidson Trauma Scale (DTS) in 150 participants from an at-risk South African population.","52e62bae98d0239505000015_001":"It appears that elite endurance (aerobic) athletes and mixed-sports (aerobic and anaerobic) athletes survive longer than the general population, as indicated by lower mortality and higher longevity. Lower cardiovascular disease mortality is likely the primary reason for their better survival rates. On the other hand, there are inconsistent results among studies of power (anaerobic) athletes.","56b330bb39c782df06000001_001":"Sushi.R: flexible, quantitative and integrative genomic visualizations for publication-quality multi-panel figures.","58d8e6818acda3452900000a_052":"Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS).","5a6f960fb750ff445500005c_004":"Objective To ascertain the appropriateness of diagnosis of streptococcal pharyngitis among Thai community pharmacists according to the Centor criteria and to identify factors related to antibiotic dispensing.","58a57f9460087bc10a00001f_035":"For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997). ","51635202298dcd4e5100004f_003":"Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement. Type 1 DM (DM1) is caused by a (CTG)(n) expansion in the 3' untranslated region of DMPK in 19q13.3.","530cefaaad0bf1360c00000d_009":"Thyroid hypoplasia is a frequent characteristic of WBS and abnormalities of thyroid function are common in patients with this feature. Therefore, the possibility of congenital hypothyroidism should always be taken into consideration too and, even if congenital hypothyroidism neonatal screening is negative, thyroid (morphology and function) evaluation should be regularly assessed when the diagnosis is made and, thereafter, every year in the first years of life.","551fd9c06b348bb82c000012_001":"Validation of the use of the ROSIER scale in prehospital assessment of stroke.","5a79d0b8faa1ab7d2e00000d_001":"This review focuses on the biogenesis and composition of the eukaryotic DNA replication fork, with an emphasis on the enzymes that synthesize DNA and repair discontinuities on the lagging strand of the replication fork. Physical and genetic methodologies aimed at understanding these processes are discussed. The preponderance of evidence supports a model in which DNA polymerase \u03b5 (Pol \u03b5) carries out the bulk of leading strand DNA synthesis at an undisturbed replication fork. DNA polymerases \u03b1 and \u03b4 carry out the initiation of Okazaki fragment synthesis and its elongation and maturation, respectively. ","5343fc1aaeec6fbd07000003_035":"type 1 (NF1) and type 2 (NF2) are connected with genes localized on chromosomes 17 and 22, respectively. The genes that are inactivated in neurofibromatosis code for the proteins neurofibromine and merline","516be1d6298dcd4e5100006a_001":"Autosomal recessive inheritance had been verified or appeared likely in all nebulin cases","5880aef4c872c95565000001_022":"One of novel fields for anti-MM therapeutic strategy is the development of immunotherapy using monoclonal antibodies (MoAbs) against myeloma-specific antigens. This article focuses on the basic and clinical aspects of several emerging and promising novel MoAbs for MM, such as elotuzumab which targets CS1 and daratumumab which targets CD38.","530f900ee3eabad021000003_007":"Mutations of this transporter determine a distinct X-linked psychomotor retardation syndrome (Allan-Herndon-Dudley syndrome (AHDS)) that is attributed to disturbed thyroid hormone levels, especially elevated T(3) levels.","56ecfd572ac5ed1459000002_006":"Further, new orally administered second-generation PI oprozomib is being investigated","5353aedb288f4dae47000006_024":"X-inactive-specific transcript (Xist) locus is a cis-acting switch that regulates X chromosome inactivation in mammals","532366f09b2d7acc7e000015_004":"The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue","55242d512c8b63434a000006_032":"We used [18F]altanserin and positron emission tomography (PET) to image serotonin 5-HT2A receptors in humans","58cbb98c02b8c60953000034_065":"The tyrosinase gene family of proteins (tyrosinase, TRP1, and TRP2) regulate the type of eumelanin synthesized and mutations affecting them result in OCA1, OCA3, and slaty (in the murine system), respectively.","5a6e3155b750ff445500003f_001":"CancerSubtypes: an R\/Bioconductor package for molecular cancer subtype identification, validation and visualization.","52f21b722059c6d71c00000b_003":"Most DCIS and invasive ductal carcinomas in LFS are hormone receptor positive and\/or HER-2 positive.","54f1e031c409818c32000001_005":"OBJECTIVE: Ecallantide (DX-88) is a potent and specific inhibitor of plasma kallikrein. ","58a6db8660087bc10a00002c_005":"The SWR1 complex replaces the canonical histone H2A with the variant H2A.Z (Htz1 in yeast) at specific chromatin regions.","5343fc1aaeec6fbd07000003_018":"mutations of the NF1 gene have been reported in patients with neurofibromatosis type 1 (NF1)","58a2e5f760087bc10a000007_018":"The natively disordered protein alpha-synuclein is the primary component of Lewy bodies, the cellular hallmark of Parkinson's disease.","58a6db8660087bc10a00002c_012":"The Swc4p protein, encoded by an essential gene, is shared by two chromatin-remodeling complexes in Saccharomyces cerevisiae cells: NuA4 (nucleosome acetyltransferase of H4) and SWR1. ","5710e131a5ed216440000001_011":"In the strain harboring the 1500 kb variant of chromosome XII consisting solely of rDNA, the size of the rDNA cluster was found to decrease as a result of a decrease in rDNA copy number.","5891f9e549702f2e01000002_040":"Restless legs syndrome (RLS), also known as Willis-Ekbom Disease (WED), is a sensorimotor disorder for which the exact pathophysiology remains unclear.","5a9d8a651d1251d03b00001f_001":"The performance of a small-scale automated cryopreservation and storage system (Mini-BioArchive system) used in the banking of umbilical cord blood (UCB) units was evaluated. ","5ace19420340b9f05800000a_008":"This paper reviews the path of discovery of the MC1R in control of animal coat colour, the subsequent role of MC1R in human physiology and possibly wider role of MC1R in human skin carcinogenesis and human development through history.","58ee0dd5eda5a57672000013_001":"Lipolysis (stimulated by beta-adrenergic agents) and leptin secretion by adipocytes are down-regulated by neurons in coculture, effects apparently mediated by neuropeptide Y (NPY)","56bc751eac7ad10019000013_001":"Acrokeratosis paraneoplastica (Bazex syndrome): report of a case associated with small cell lung carcinoma and review of the literature.","551fd9c06b348bb82c000012_003":"MATERIALS AND METHODS: Compared with the Cincinnati Prehospital Stroke Scale (CPSS), emergency physicians prospectively used the ROSIER as a stroke recognition tool on suspected patients in the prehospital setting.","5aacd487fcf4565872000007_001":"DNA polymerase theta (pol \u03b8) is an evolutionarily conserved protein encoded by the POLQ gene in mammalian genomes. ","589a246078275d0c4a00002a_023":"The purpose was to summarize US prescribing information for teriflunomide in the treatment of patients with relapsing forms of multiple sclerosis (RMS), with reference to clinical efficacy and safety outcomes.In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial.","5506c3e38e1671127b00000a_020":"In view of the previous observation that NO stimulates the activity of the Na(+)\/Ca(2+) exchanger (NCX), this study examines the involvement of NCX in cytotoxicity. The specific NCX inhibitor SEA0400 blocked SNP-induced phosphorylation of ERK, JNK and p38 MAPK, and decrease in cell viability. ","5a74e9ad0384be955100000a_003":"selective estrogen receptor modulator (SERM)","5545186cbf90a13052000002_011":"NER can operate via two subpathways: global genome repair (GGR) and a specialized pathway coupled to active transcription (transcription-coupled repair, TCR) and directed to DNA lesions in the transcribed strand of active genes.","5171438a8ed59a060a000007_012":"Germline mutations of the ret protooncogene are the underlying cause of the MEN2 syndromes and a proportion of cases of HSCR. In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.","589630f378275d0c4a000007_010":"This population pharmacokinetic analysis of the investigational oral proteasome inhibitor ixazomib assessed the feasibility of switching from body surface area (BSA)-based to fixed dosing, and the impact of baseline covariates on ixazomib pharmacokinetics.","58d8e6818acda3452900000a_022":"Severe Marfan syndrome due to FBN1 exon deletions.","5ace37d50340b9f058000011_001":"The incidence of infection with Cryptococcus neoformans has increased four-fold in the last decade. It is an increasing cause of infection in immunosuppressed patients, most notably those with HIV infection. Currently, 4.0% patients with AIDS in the United Kingdom are known to have developed cryptococcosis.","5880aef4c872c95565000001_009":"Targeting CD38 with Daratumumab Monotherapy in Multiple Myeloma.","5a6e354fb750ff4455000042_001":"DeepBlueR: large-scale epigenomic analysis in R.","52bf1d9e03868f1b06000010_007":"More recently, a nuclear factor-\u03b2 ligand (RANKL) inhibitor, denosumab, has been             developed for the treatment of bone metastases.","58cbb98c02b8c60953000034_054":"Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme.","55242d512c8b63434a000006_030":"In summary, these results demonstrate that the test-retest variability of [18F]altanserin-specific binding is comparable to that of other PET radiotracers and that the regional specific binding of [18F]altanserin in human brain was correlated with the known regional distribution of 5-HT2A receptors","5880aef4c872c95565000001_030":"Daratumumab stood out from other CD38 mAbs in its strong ability to induce complement-dependent cytotoxicity in patient MM cells.","58f4b9d470f9fc6f0f000016_010":"Tularemia, caused by the bacterium Francisella tularensis, where F.","5710e131a5ed216440000001_014":"Condensation of a unique region of chromosome XVI and the highly repetitive ribosomal DNA (rDNA) cluster from chromosome XII were also examined in budding yeast. ","5ace19420340b9f05800000a_040":"Variants of the Melanocortin 1 Receptor (MC1R) gene have been found to be associated with red hair and fair skin in humans.","56ed03862ac5ed1459000004_018":"MLN4924 is a first-in-class experimental cancer drug that inhibits the NEDD8-activating enzyme, thereby inhibiting cullin-RING E3 ubiquitin ligases and stabilizing many cullin substrates. The mechanism by which MLN4924 inhibits cancer cell proliferation has not been defined, although it is accompanied by DNA rereplication and attendant DNA damage.","54f1e031c409818c32000001_009":"DX-88 (ecallantide, Dyax Corp.) is a highly specific recombinant plasma kallikrein inhibitor that halts the production of bradykinin and can be dosed subcutaneously","5a86f074faa1ab7d2e00003a_001":" In this study, we considered immunohistochemistry and SMARCB1\/INI1 mutational status to examine SMARCB1 status in a series of pediatric chordomas (7 classic and 1 poorly differentiated)","5148691bd24251bc0500002d_003":"These results suggest that JNK activation by H(2)O(2) plus PDTC resulted from the down-regulation of JNK phosphatases.","571f33bd0fd6f91b68000003_003":"Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome.","58cbb98c02b8c60953000034_010":"Mutations at a single N-glycosylation sequon of tyrosinase have been reported to be responsible for oculocutaneous albinism type IA in humans, characterized by inactive tyrosinase and the total absence of pigmentation. ","5891b125621ea6ff7e00000e_013":"A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase","589a247078275d0c4a000035_022":"Dinutuximab (formerly called ch14.18), a monoclonal antibody targeting the disialoganglioside GD2, has been shown to significantly improve survival rates in patients with high-risk neuroblastoma.","5a6f853ab750ff4455000055_002":"Probe-to-bone test and simple X-rays are both standard tests for the diagnosis of diabetic foot osteomyelitis. This study demonstrates the importance of considering jointly clinical information (probe-to-bone test) and diagnostic tests (simple radiography) to increase agreement among clinicians on diagnosis of diabetic foot osteomyelitis.","58dfd70c6fddd3e83e000002_001":"Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia","571e275dbb137a4b0c000005_002":"AIM: We assessed the efficacy of dipeptidyl peptidase-4 (DPP-4) inhibitors vildagliptin, sitagliptin, saxagliptin and alogliptin to reach the haemoglobin HbA1c target of <7% in people with type 2 diabetes. ","5547a01cf35db75526000005_021":"Microorganisms of the microsporidia group are obligated intracellular protozoa that belong to the phylum Microspora; currently they are considered to be related or belong to the fungi reign","550f0e4c6a8cde6b72000003_036":"Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatic tissues.","5a8b1264fcd1d6a10c00001d_009":"tomato pathogen Fusarium oxysporum f. sp. radicis-lycopersici ","58d8e6818acda3452900000a_004":"Among 18 MS patients with the phenotype of MS meeting inclusion criteria 15 have had a FBN1 gene mutation. ","54df695b1388e8454a000004_004":"First case of X-linked dystonia-parkinsonism (\"Lubag\") to demonstrate a response to bilateral pallidal stimulation.","52bf1d9e03868f1b06000010_012":"A highly specific, fully human antibody against RANKL has been produced (denosumab) that in early studies in humans reduces bone turnover and improves bone density.","54f35ad864850a5854000004_010":" A selective BACE inhibitor and the \u03b3-secretase inhibitor LY450139 (semagacestat) were used to inhibit respective secretase.","56d85e7751531f7e33000001_003":"Feline leukemia virus subgroup C receptor (FLVCR1), a member of the SLC49 family of four paralogous genes, is a cell surface heme exporter, essential for erythropoiesis and systemic iron homeostasis. Disruption of FLVCR1 function blocks development of erythroid progenitors, likely due to heme toxicity.","5891b125621ea6ff7e00000e_004":"Taliglucerase alfa is an intravenous enzyme replacement therapy approved for treatment of type 1 Gaucher disease (GD), and is the first available plant cell-expressed recombinant therapeutic protein. Herein, we report long-term safety and efficacy results of taliglucerase alfa in treatment-na\u00efve adult patients with GD.","5a7237672dc08e987e000008_010":"Idarucizumab, a monoclonal antibody fragment that binds dabigatran with high affinity, is in development as a specific antidote for dabigatran.","53357193d6d3ac6a34000047_003":"Preclinical to clinical translation of tofacitinib, a Janus kinase inhibitor, in rheumatoid arthritis.","5891f9e549702f2e01000002_021":"BACKGROUND: The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS. ","54ff45966ad7dcbc12000010_005":"Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is the defective protein of the ichthyosiform condition Netherton syndrome (NS).","5ab147edfcf4565872000013_007":"In order to determine the prevalence of latent infection due to Mycobacterium tuberculosis in drug users and to provide centres for drug users with a practical tool for tuberculosis screening, 237 drug users were subjected to the Monotest and, for reference purposes, to the Mantoux test.","554148c23f2354b713000001_003":"A database, named LepChorionDB, was constructed by searching 5 different protein databases using class A and B central domain-specific profile Hidden Markov Models (pHMMs), developed in this work. A total of 413 Lepidopteran chorion proteins from 9 moths and 1 butterfly species were retrieved. These data were enriched and organised in order to populate LepChorionDB, the first relational database, available on the web, containing Lepidopteran chorion proteins grouped in A and B classes. LepChorionDB may provide insights in future functional and evolutionary studies of Lepidopteran chorion proteins and thus, it will be a useful tool for the Lepidopteran scientific community and Lepidopteran genome annotators, since it also provides access to the two pHMMs developed in this work, which may be used to discriminate A and B class chorion proteins","58bfd8e902b8c60953000018_007":"Necrobiosis lipoidica is a rare inflammatory granulomatous skin disease of unknown etiology which is associated with diabetes mellitus in about 60\u2009% of the patients","5a8b1264fcd1d6a10c00001d_012":"Fusarium oxysporum f. sp lycopersici, a tomato pathogen,","5895bc397d9090f35300000b_020":"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+\/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia.","5545186cbf90a13052000002_010":"Transcription-coupled repair (TCR) is a universal sub-pathway of the nucleotide excision repair (NER) system that is limited to the transcribed strand of active structural genes.","51631154298dcd4e5100004e_013":"It is suggested that BOR has therapeutic efficacy for multiple myeloma as a first-line medical treatment and\/or for patients with THAL resistance, and can improve prognosis and survival. Since serum ALP elevation was observed in many patients for whom BOR was effective, this may be a predictor of BOR efficacy.","56bb621fac7ad10019000009_002":"Katayama fever is an acute clinical condition characterised by high fever, dry cough and general malaise occurring during early Schistosoma spp.","5a72329e2dc08e987e000006_003":"Supine films from 44 cases of pneumoperitoneum were randomly interspersed among supine films from 87 control subjects without free air, and the films were reviewed for the presence or absence of various signs of pneumoperitoneum, including Rigler's sign (gas on both sides of the bowel wall), the falciform ligament sign (gas outlining the falciform ligament), the football sign (gas outlining the peritoneal cavity), the inverted-V sign (gas outlining the medial umbilical folds), and the right-upper-quadrant gas sign (localized gas in the right upper quadrant). ","5543829fed966d112c000009_005":"Medicarpin, the major phytoalexin in alfalfa, is synthesized by way of the isoflavonoid branch of phenylpropanoid metabolism","55192892622b194345000012_001":"IFNAR1 ubiquitination is facilitated by the \u03b2Trcp E3 ubiquitin ligase that is recruited to IFNAR1 upon its degron phosphorylation, which is induced by the ligand.","58a32efe60087bc10a000013_018":"Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.","5a6e42f1b750ff4455000046_007":"Molecular genetic testing of the MEFV gene, the only gene currently known to be associated with familial Mediterranean fever, ","56c048acef6e39474100001c_010":" Imetelstat, a phase 2 telomerase inhibitor, was used to elucidate the effect of telomerase inhibition on proliferation and tumorigenicity in established cell lines (BXD-1425EPN, R254), a primary TIC line (E520) and xenograft models of pediatric ependymoma. ","58bc5e2202b8c60953000002_010":"A mutation in the ubiquilin 2 gene (UBQLN2) was recently identified as a cause of X-linked amyotrophic lateral sclerosis (ALS)\/frontotemporal dementia (FTD) ","58861d413b87a8a738000002_026":"Evaluation of PTSD symptoms using the Davidson Trauma Scale (DTS) and General Health Questionnaire (GHQ) in a sample of 56 patients admitted to an emergency room of a general hospital, and assessment of PTSD symptoms in relatives of the patients.","550c3754a103b78016000007_003":"Parkinson's disease (PD) is the second most common neurodegenerative disorder that is characterized by two major neuropathological hallmarks: the degeneration of dopaminergic neurons in the substantia nigra (SN) and the presence of Lewy bodies in the surviving SN neurons, as well as other regions of the central and peripheral nervous system","5343fc1aaeec6fbd07000003_029":"patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene.","56c3320a50c68dd416000008_004":"Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) population, with an incidence of 1:2000 to 1:8000","58edf567eda5a57672000011_004":"DosR\/DevR of M. tuberculosis is a two component dormancy survival response regulator which induces the expression of 48 genes.","58a5b1fe60087bc10a000024_002":"RAP80 interacts with the SUMO-conjugating enzyme UBC9 and is a novel target for sumoylation.","5357a6d0f1005d6b58000004_002":"Intron F contains a fully consensus branch site sequence (UUCCUUAAC).","550f0e4c6a8cde6b72000003_010":"Recent studies have provided a plausible disease mechanism for FSHD in which FSHD results from inappropriate expression of the germline transcription factor DUX4.","54f9c40ddd3fc62544000001_005":"NFAT (nuclear factor of activated T cell) proteins are expressed in most immune system cells and regulate the transcription of cytokine genes critical for the immune response. The activity of NFAT proteins is tightly regulated by the Ca(2+)\/calmodulin-dependent protein phosphatase 2B\/calcineurin (CaN). Dephosphorylation of NFAT by CaN is required for NFAT nuclear localization. ","554148c23f2354b713000001_001":"LepChorionDB, a database of Lepidopteran chorion proteins and a set of tools useful for the identification of chorion proteins in Lepidopteran proteomes","5118dd1305c10fae75000001_012":"The female to male ratio was 2.5:1 and the mean age at diagnosis was 49.4 +\/- 14.9 years for women and 55.3 +\/-15.6 years for men (P < 0.0003)","51585b28d24251bc0500008d_007":"Recent studies demonstrate that UHRF1 is required for DNA methylation maintenance by targeting DNMT1 to DNA replication foci, presumably through its unique hemi-methylated DNA-binding activity and interaction with DNMT1.","54d8ea2c4b1fd0d33c000002_002":"Atrial fibrillation (AF) is the most common arrhythmia worldwide, and it has a significant effect on morbidity and mortality. It is a significant risk factor for stroke and peripheral embolization, and it has an effect on cardiac function.","5353aedb288f4dae47000006_019":" inactivation in female mammals involves transcriptional silencing of an entire chromosome in response to a cis-acting noncoding RNA, the X inactive-specific transcript (Xist)","56ecfd572ac5ed1459000002_007":"The epoxyketone-based proteasome inhibitors carfilzomib and orally bioavailable oprozomib have anti-resorptive and bone-anabolic activity in addition to anti-myeloma effects.","5890fde5621ea6ff7e000009_001":"Transarterial glue embolization is highly effective for Borden type III DAVF with direct cortical venous drainage, but has limitations for Borden type I and II DAVFs in which the affected sinus is part of the normal venous circulation.","53398855d6d3ac6a3400005b_003":" in vitro binding of a HAT bromodomain with acetylated lysines within H3 and H4 amino-terminal peptides","5a7234352dc08e987e000007_011":"glioblastoma multiforme gbm the most common malignant brain tumor of adults is relatively rare in children in a gbm affecting a 16 year old boy the tumor spread across the corpus callosum butterfly glioma this type of bilateral hemispheric growth has previously been thought to result from spread along the white matter tracts two samples obtained from opposite sides of the same tumor were analyzed comprehensively for loss of heterozygosity loh and microsatellite instability msi amplification of egfr and mdm2 was studied by means of multiplex polymerase chain reaction exons 5 6 7 and 8 of tp53 were screened for mutations by sequencing in neither specimen were molecular alterations found in the egfr mdm2 or tp53 genes the specimen obtained from the right hemisphere exhibited a high level of msi and loh in chromosome arms 5q 9p and 13q the specimen from the left hemisphere exhibited loh in chromosome arms 3p 5q 9p 9q 10p 10q and 13q here we propose four plausible hypothetical scenarios underlying the tumorigenesis of this gbm.","55200c606b348bb82c000013_023":"Of interest, a factor Xa decoy, PRT4445, is currently under evaluation in conjunction with betrixaban, and may be a universal reversal agent for all anticoagulants with anti-Xa activity.","5357a6d0f1005d6b58000004_001":"Highly conserved sequences at the 5' splice site and branch site of U12-dependent introns are important determinants for splicing by U12-dependent spliceosomes. This study investigates the in vivo splicing phenotypes of mutations in the branch site consensus sequence of the U12-dependent intron F from a human NOL1 (P120) minigene. Intron F contains a fully consensus branch site sequence (UUCCUUAAC). ","5a742d620384be9551000002_011":"The STOP-BANG questionnaire has been used to identify surgical patients at risk for undiagnosed obstructive sleep apnea (OSA) by classifying patients as low risk (LR) if STOP-BANG score < 3 or high risk (HR) if STOP-BANG score \u2265 3.","5324a8ac9b2d7acc7e000018_030":" BCR-ABL transcripts in the peripheral blood of patients with CML who were treated with imatinib mesylate (Glivec, Novartis)","54fc99f36ad7dcbc12000004_004":"Despite that deep brain stimulation (DBS) of the globus pallidus internus (GPi) is emerging as the favored intervention for patients with medically intractable dystonia, the pathophysiological mechanisms of dystonia are largely unclear. In eight patients with primary dystonia who were treated with bilateral chronic pallidal stimulation, we correlated symptom-related electromyogram (EMG) activity of the most affected muscles with the local field potentials (LFPs) recorded from the globus pallidus electrodes. ","58cdb41302b8c60953000042_012":"Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes.","5abbe429fcf456587200001c_004":"Apixaban (Eliquis\u2122), an oral direct factor Xa inhibitor, is being developed by Bristol-Myers Squibb and Pfizer as a therapy for the prevention and\/or treatment of thrombotic disorders.","5a4df811966455904c00000e_004":"In vitro characterization of mutant yeast RNA polymerase II with reduced binding for elongation factor TFIIS.","5147c8a6d24251bc05000027_007":"Galactocerebrosidase (GALC) is the lysosomal enzyme deficient in human and certain animal species with globoid cell leukodystrophy (GLD) or Krabbe disease.","531464a6e3eabad021000014_005":"We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. ","54edf81f94afd61504000014_001":"Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI\/SNF complex","56c048acef6e39474100001c_013":"Our results showed that imetelstat inhibited telomerase activity in a dose-dependent manner in esophageal cancer cells.","58bfd8e902b8c60953000018_008":"Necrobiosis lipoidica is a granulomatous skin disease of unknown etiology, associated mainly with diabetes mellitus","58a32efe60087bc10a000013_008":"Healthcare- and Community-Associated Methicillin-Resistant Staphylococcus aureus (MRSA) and Fatal Pneumonia with Pediatric Deaths in Krasnoyarsk, Siberian Russia: Unique MRSAs Multiple Virulence Factors, Genome, and Stepwise Evolution","58cdb41302b8c60953000042_002":"Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility.","56c1d856ef6e394741000032_004":"Moreover, Ficolin-3 has a high complement activating potential and is the only collagenase proteolytic resistant molecule among the lectin complement pathway initiators.","58dd0dde8acda34529000027_001":"Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents ","52ece29f98d023950500002c_004":"One, producing severe psychomotor defects in > 100 males from 26 families, is caused by mutations in the cell-membrane transporter of TH, MCT8","53318685d6d3ac6a3400003d_004":"The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance.","530cefaaad0bf1360c00000d_016":" This study confirms the presence of alterations of thyroid function in WS and also suggests the frequent occurrence of abnormalities of thyroid morphology in these patients.","56bc751eac7ad10019000013_008":"Bazex syndrome (acrokeratosis paraneoplastica) is a rare paraneoplastic syndrome that usually occurs in males over 40 years old and is particularly associated with squamous cell carcinoma of the upper aerodigestive tract and adenopathy above the diaphragm.The objectives of our article are (1) to describe a unique case of acrokeratosis paraneoplastica and (2) to review the current literature regarding skin findings, commonly associated neoplasms, and treatment options relative to this condition.","58e7902b3e8b6dc87c000007_004":"More recently, large-scale differential gene expression studies performed on selected tissues from patients with autoimmune disorders, have led to the identification of gene signatures associated with the activation of specific pathways in these diseases (e.g. interferon signature in lupus).","5895bc397d9090f35300000b_022":"Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation\/proton exchanger NHE6.","53124bdae3eabad02100000b_003":"molecular target of rapamycin (mTOR) ","56c8274f5795f9a73e00000d_002":"Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease caused by selective loss of motor neurons.","58e9e7aa3e8b6dc87c00000d_013":"The genome of the fruitfly, Drosophila melanogaster, contains a single gene encoding the enzyme responsible for deamination, termed ADAR (for adenosine deaminase acting on RNA).","571f5c150fd6f91b68000009_008":"The severe reduction in mRNA and protein levels of the mitochondrial protein frataxin, encoded by the X25 gene, causes Friedreich ataxia (FRDA), the most common form of recessive hereditary ataxia.","5324a8ac9b2d7acc7e000018_022":"imatinib, a selective BCR-ABL tyrosine kinase inhibitor (TKI), was started but Ph-positive chromosomes remained","5a871a6861bb38fb24000009_008":"The anaplastic lymphoma kinase (ALK) gene rearrangement identifies a population of NSCLCs in whom dysregulation of ALK-tyrosine kinase (-TK) leads to uncontrolled proliferation of cancer cells,","56c1f003ef6e394741000039_009":"Suvorexant helps in decreasing wakefulness by counteracting orexin activity.","5ace238e0340b9f05800000d_003":"We propose a model where an ancestral human-chimpanzee pericentric inversion and the ancestral chromosome 2 fusion both predisposed and protected the chimpanzee and human genomes, respectively, to the formation of subtelomeric heterochromatin. ","534abe8aaeec6fbd07000013_001":"HSP90 inhibition was associated with decreased neuroendocrine ErbB and IGF-I receptor expression, decreased Erk and Akt phospho-rylation and the induction of HSP70 expression.","5540ca8a0083d1bf0e000003_007":"Nestin is an intermediate filament protein expressed in neuroepithelial stem cells during development and it is later replaced by cell specific neuronal or glial filaments.","56f7c15a09dd18d46b000012_006":"An S734L mutation in LPIN2 causes Majeed syndrome","571e40a8bb137a4b0c000009_002":"Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.","552fac4fbc4f83e828000006_003":"The orphan nuclear receptor DAX1 is up-regulated by the EWS\/FLI1 oncoprotein and is highly expressed in Ewing tumors","55421ee7ccca0ce74b000002_016":"p53, the guardian of the genome, is the most important tumor suppressor.","58e74bff3e8b6dc87c000004_005":"DBA patients exhibit abnormal pre-rRNA maturation patterns and the majority bear mutations in one of several ribosomal protein genes that encode structural components of the ribosome essential for the correct assembly of the ribosomal subunits.","5ace37d50340b9f058000011_006":"Key words used include: meningitis, cryptococcal, cryptococcus, cryptococcosis, acquired immunodeficiency syndrome, human immunodeficiency virus, prophylaxis, chemoprevention, antifungal agents, and the Cochrane screen for randomized controlled trials.<br><b>SELECTION CRITERIA<\/b>: Randomized controlled trials using antifungal interventions for the primary prevention of cryptococcal disease in adults with HIV were selected.<br><b>DATA COLLECTION AND ANALYSIS<\/b>: Two reviewers independently assessed trial eligibility and quality.","52bf19f703868f1b06000002_002":"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases.","56c1f003ef6e394741000039_010":"Hypnotic drug development has arguably become more focused in recent years, particularly upon the highly anticipated novel target, the orexin (hypocretin) system. Merck&apos;s suvorexant (MK-4305) is the first compound of the so-called dual orexin receptor antagonist (DORA) class expected to be submitted for FDA approval, with a new drug application anticipated in 2012.","5509bd6a1180f13250000002_002":"We describe the characteristics of small-bowel lymphoma on MR enterography, identifying a number of key features that may help the interpreting radiologist in suggesting the underlying histologic subtype and whether the presence of underlying celiac disease is likely.","52ee9f55c8da898910000009_003":"The Romano-Ward syndrome shows an autosomal dominant pattern of inheritance and normal hearing. ","58cdb41302b8c60953000042_016":"Ehlers-Danlos syndrome is an inherited connective tissue disorder.","5a804f71faa1ab7d2e00001d_004":"Thus, ExpansionHunter can be used to accurately detect known pathogenic repeat expansions and provides researchers with a tool that can be used to identify new pathogenic repeat expansions.","5880aef4c872c95565000001_002":"Furthermore, daratumumab, and probably also other CD38-targeting antibodies, interfere with blood compatibility testing and thereby complicate the safe release of blood products. Neutralization of the therapeutic CD38 antibody or CD38 denaturation on reagent red blood cells mitigates daratumumab interference with transfusion laboratory serologic tests. ","55200c606b348bb82c000013_026":"Apixaban, betrixaban, edoxaban, and rivaroxaban are small-molecule, selective inhibitors that directly and reversibly bind to the active site of factor Xa","588f9950ed9bbee70d000002_001":"Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome","5891c90949702f2e01000001_010":"UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","53124bdae3eabad02100000b_002":"molecular target of rapamycin (mTOR)","5343bdd6aeec6fbd07000001_001":"The carboxy-terminal domain of the paused polymerase large subunit is hyperphosphorylated on serine 5, and phosphorylation of serine 2 is first detected here","56bdcc4cef6e394741000002_001":"In many genomic studies, one works with genome-position-dependent data, e.g. ChIP-chip or ChIP-Seq scores. Using conventional tools, it can be difficult to get a good feel for the data, especially the distribution of features. This article argues that the so-called Hilbert curve visualization can complement genome browsers and help to get further insights into the structure of one's data. This is demonstrated with examples from different use cases. An open-source application, called HilbertVis, is presented that allows the user to produce and interactively explore such plots.AVAILABILITY: http:\/\/www.ebi.ac.uk\/huber-srv\/hilbert\/.","5324a8ac9b2d7acc7e000018_026":"Ph) chromosome is the cytogenetic hallmark of chronic myeloid leukemia (CML). The translocation forms a chimeric gene, bcr-abl, which generates BCR-ABL. This fusion protein constitutively activate ABL tyrosine kinase and causes CML. Imatinib mesylate is a selective tyrosine kinase inhibitor on ABL","5540b9800083d1bf0e000002_006":"Two of the less stably folded fragments, human erythroid alpha-spectrin repeats 13 and 14 (HEalpha13,14) and human erythroid beta-spectrin repeats 8 and 9 (HEbeta8,9), are located opposite each other on antiparallel spectrin dimers.","58bfd8e902b8c60953000018_011":"Necrobiosis lipoidica (NL) is a rare chronic granulomatous disease that has historically been associated with diabetes mellitus","551fd9c06b348bb82c000012_019":"The ROSIER scale had greater sensitivity than existing stroke recognition instruments in this population.","5ace19420340b9f05800000a_038":"BACKGROUND Red hair color is caused by variants of the melanocortin-1 receptor (MC1R) gene.","52bf1b0a03868f1b06000009_008":"Wilson's disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and\/or brain damage. ","58d8e6818acda3452900000a_031":"The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population","5ab147edfcf4565872000013_002":"Diaskintest\u00ae test and Mantoux test with 2TE PPD-L were concurrently carried out in 300 children and adolescents with tuberculosis and followed up in risk groups at a tuberculosis dispensary to determine the sensitivity of the new skin test in active tuberculosis infection.","587e0116ae05ffb474000002_006":"CisMapper: predicting regulatory interactions from transcription factor ChIP-seq data.","5118dd1305c10fae75000001_010":"In women the DAS28 was significantly higher than in men due to higher scores for general health and tender joints. Likewise, HAQ and VAS pain were rated significantly higher in women.","53189656b166e2b80600001c_002":"alpha-Synuclein is a presynaptic protein recently identified as a specific component of Lewy bodies (LB) and Lewy neurites.","54d8fd334b1fd0d33c000005_002":"Rindopepimut, a 14-mer injectable peptide vaccine against EGFRvIII for the potential treatment of glioblastoma multiforme.","569e7721ceceede94d000001_002":"The international Functional Annotation Of the Mammalian Genomes 4 (FANTOM4) research collaboration set out to better understand the transcriptional network that regulates macrophage differentiation and to uncover novel components of the transcriptome employing a series of high-throughput experiments","5a6d196db750ff4455000032_002":"Elucidating the transcriptional circuitry controlling forebrain development requires an understanding of\u00a0enhancer activity and regulation. We generated stable transgenic mouse lines that express CreERT2and GFP from ten different enhancer elements with activity in distinct domains within the embryonic basal ganglia. We used these unique tools to generate a comprehensive regional fate map of the mouse subpallium, including sources for specific subtypes of amygdala neurons. We then focused on deciphering transcriptional mechanisms that control enhancer activity. Using machine-learning computations, in\u00a0vivo chromosomal occupancy of 13 transcription factors that regulate subpallial patterning and differentiation and analysis of enhancer activity in Dlx1\/2 and Lhx6 mutants, we elucidated novel molecular mechanisms that regulate region-specific enhancer activity in the developing brain. Thus, these subpallial enhancer transgenic lines are data and tool\u00a0resources to study transcriptional regulation of GABAergic cell fate.","54cf45e7f693c3b16b00000a_007":"SR calcium-regulatory proteins: (1) luminal calcium-binding proteins (calsequestrin","5880dba9c872c95565000009_001":"SUMMARY: Palbociclib, abemaciclib and ribociclib have demonstrated very promising clinical activity in breast cancer, liposarcoma, mantel cell lymphoma and melanoma. Moreover, CDK4\/6 inhibitors have shown promising preclinical activity in glioblastoma, renal and ovarian cancer models that may provide directions for their future clinical development.","5a4e50b242878bf97d000001_006":"Eukaryotic DNA topoisomerase II is an abundant nuclear enzyme that is essential for cell proliferation. ","5a86f074faa1ab7d2e00003a_002":"The diagnosis is all the more challenging that other poorly differentiated cancers lose SMARCB1 expression, such as epithelioid sarcomas (ES), renal medullary carcinomas (RMC) or undifferentiated chordomas (UC)","532dcfc9d6d3ac6a34000021_008":"Set1A protein shares 39% identity with an uncharacterized SET domain protein","533ea8fcc45e133714000010_013":"selenocysteine insertion requires a cis-acting selenocysteine insertion sequence (SECIS) usually located in the 3'UTR of selenoprotein mRNAs","58eb9542eda5a57672000007_006":"Here, we report a specific in vivo association between coilin and rRNA, U small nuclear RNA (snRNA), and human telomerase RNA, which is altered upon treatment with DNA-damaging agents. Using chromatin immunoprecipitation, we provide evidence of coilin interaction with specific regions of U snRNA gene loci.","5353aedb288f4dae47000006_002":"X inactivation-specific transcript (XIST) is a long ncRNA that mediates X chromosome inactivation","531464a6e3eabad021000014_013":"The detailed characterization at the molecular biology level of this novel XK splice site mutation associated with the clinical description of the patient contributes to a better understanding of the phenotype-genotype correlation in the McLeod syndrome.","5880b073c872c95565000003_019":"Recent results from phase 3\/4 studies demonstrate efficacy for an antidote to dabigatran (idarucizumab, a monoclonal antibody fragment with specificity for dabigatran) and an antidote to factor Xa inhibitors (andexanet alfa, a recombinant and inactive form of factor Xa that binds inhibitors).","51635202298dcd4e5100004f_005":"Dystrophic myotonia is a sufficiently rare disease inherited mainly by the autosomal dominant type.","58a32efe60087bc10a000013_001":"(MRSA, methicillin-resistant S. aureus)","5a7234352dc08e987e000007_006":"The diagnosis of butterfly glioma (glioblastoma multiforme) was made based on imaging characteristics and was further confirmed by biopsy findings.","55376f19bc4f83e82800000c_006":"Medulloblastoma (MB) is the most common malignant pediatric brain tumor and is thought to arise from genetic anomalies in developmental pathways required for the normal maturation of the cerebellar cortex, notably developmental pathways for granule cell progenitor (GCP) neurogenesis.","5343fc1aaeec6fbd07000003_014":"Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder resulting in the growth of a variety of tumours, ","5717d64f29809bbe7a000001_002":"The dynamin-related protein Opa1 is localized to the mitochondrial intermembrane space, where it facilitates fusion between mitochondria. ","571e172bbb137a4b0c000002_002":"To review available studies of empagliflozin, a sodium glucose co-transporter-2 (SGLT2) inhibitor approved in 2014 by the European Commission and the United States Food and Drug Administration for the treatment of type 2 diabetes mellitus (T2DM)","56ffdc1ccf1c32585100000b_003":"A-to-I RNA editing can alter codons, substitute amino acids and affect protein sequence, structure, and function.","5a4df811966455904c00000e_003":" In vitro, in the absence of TFIIS, the purified wt polymerase and the two mutant polymerases showed similar specific activity in polymerization, readthrough at intrinsic transcriptional arrest sites and nascent RNA cleavage. In contrast to the wt polymerase, both mutant polymerases were not stimulated by the addition of a 3-fold molar excess of TFIIS in assays of promoter-independent transcription, readthrough or cleavage.","536e46f27d100faa09000012_010":"Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.","56bc7d71ac7ad10019000018_001":"Delamanid: a review of its use in patients with multidrug-resistant tuberculosis.","589a246078275d0c4a00002a_018":"BACKGROUND: The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.OBJECTIVE: The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.METHODS: RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks. ","56b7083376d8bf8d13000001_001":"Fusarium oxysporum f. sp. cubense (Foc), the causal agent of Fusarium wilt (Panama disease), is one of the most devastating diseases of banana (Musa spp.)","5a86f074faa1ab7d2e00003a_007":"Loss of SMARCB1\/INI1 expression is considered to be a hallmark for childhood chordomas (CCs).","533ea8fcc45e133714000010_006":"3' untranslated region RNA stem loop called a SEC incorporation sequence (SECIS)","589d965a78275d0c4a000049_013":"Plant pri-miRNAs are transcribed by DNA-dependent RNA polymerase II (Pol II) and their levels are determined through transcription and degradation, whereas pri-miRNA processing is affected by its structure, splicing, alternative splicing, loading to the processor and the processor activity, which involve in many accessory proteins","58a32efe60087bc10a000013_022":"Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.","514a0a57d24251bc05000051_045":"In 23 patients admitted to the Intensive Care Unit with coma due to overdose with benzodiazepines or other sedatives, flumazenil i.v. (up to 2 mg or placebo) was given. In 13 patients given flumazenil the Glasgow Coma Scale (GCS) increased significantly from 4.9 to 7.8 (p less than 0.05). Six of these 13 patients, including mainly benzodiazepine mono-intoxications, needed only one series of injections (up to 1.0 mg flumazenil); the GCS increased thereby from 4.5 to 10.7 within a maximum of 5 min (p less than 0.01).","5ace19420340b9f05800000a_017":" Loss-of-function mutations at the MC1R are associated with a switch from eumelanin to phaeomelanin production, resulting in a red or yellow coat colour. ","532dcfc9d6d3ac6a34000021_017":"ERG-associated protein with a SET domain, also called SETDB1) is a novel histone methyltransferase that catalyzes methylation of histone H3-lysine 9 (H3-K9)","5880b812c872c95565000006_005":"Within this study the in vitro bioactivity of dapivirine as compared to the NNRTI UC781 was further established and a quick dissolve film was developed for vaginal application of dapivirine for prevention of HIV infection.","58dd0dde8acda34529000027_008":"Marfan syndrome is an autosomal dominant connective tissue disorder commonly due to mutation of the fibrillin-1 (FBN-1) gene that causes disruption of elastic fibers in large- and medium-size arteries and predisposes to aneurysm formation and arterial dissection. ","56c1f045ef6e394741000058_004":"OBJECTIVE: The objective of this study was to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of selexipag, an orally available selective prostacyclin receptor agonist, in development for pulmonary arterial hypertension in healthy subjects.","531464a6e3eabad021000014_029":"McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene.","5324a8ac9b2d7acc7e000018_027":"CML) is characterized by the presence of a BCR-ABL fusion gene, which is the result of a reciprocal translocation between chromosomes 9 and 22, and is cytogenetically visible as a shortened chromosome 22 (Philadelphia)","58f3ca5c70f9fc6f0f00000d_002":"Fusarium graminearum is an important plant pathogen that causes head blight of major cereal crops","5324a8ac9b2d7acc7e000018_014":"The cytogenetic characteristic of Chronic Myeloid Leukemia (CML) is the formation of the Philadelphia chromosome gene product, BCR-ABL. Given that BCR-ABL is the specific target of Gleevec in CML treatment, ","53551206a0726bee57000001_004":"In spite of the routine use of this drug its major adverse effect, the dose-dependent cardiotoxicity, cannot be prevented yet","531464a6e3eabad021000014_018":"The first case had been authenticated as a genuine McLeod both by serology and by genotyping (R222G missense mutation) and the second case had a mutation in XK (IVS2+5G>A) and by serology exhibited very weak Kx antigen and no detectable Kell antigens, except extremely low k antigen by adsorption-elution technique. ","5a9da8df4e03427e73000006_001":"ACE910 (emicizumab) is a humanized bispecific antibody recognizing factor IXa and X mimicking factor VIII function. ","54f9ae2506d9727f76000002_001":"However, in Naxos disease, a recessive form of ARVC with coexpression of palmoplantar keratoderma and woolly hair, a mutation in the plakoglobin gene has recently been discovered, thus underscoring the potential role of genetic alterations in cytoskeletal proteins in ARVC.","589a246078275d0c4a00002a_021":"BACKGROUND: The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.OBJECTIVE: The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.METHODS: RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks. ","58adc1ff9ef3c34033000006_003":"Moreover, looping is dependent upon the general transcription factor TFIIB: the E62K (glutamic acid 62 -->lysine) form of TFIIB adversely affects looping at every gene tested, including BLM10, SAC3, GAL10, SEN1, and HEM3","58a32efe60087bc10a000013_041":"In a previous study, we reported that two kaempferol glycosides isolated from Laurus nobilis L., kaempferol-3-O-alpha-L-(2'',4''-di-E-p-coumaroyl)-rhamnoside (C2) and kaempferol-3-O-alpha-L-(2''-E-p-coumaroyl-4''-Z-p-coumaroyl)-rhamnoside (C3), showed strong antibacterial activities against methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant enterococci.","52fe58f82059c6d71c00007a_005":"the multiple replication origin paradigm has also been demonstrated within the archaeal domain of life","5a86f074faa1ab7d2e00003a_008":"Loss of SMARCB1\/INI1 expression is considered to be a hallmark for childhood chordomas (CCs).","56d1da3b67f0cb3d66000006_007":"Our analysis identified three extended periods in the evolution of gene regulatory elements.","5710a592cf1c32585100002a_006":"Transcriptome analysis identifies Bacillus anthracis genes that respond to CO2 through an AtxA-dependent mechanism","530f900ee3eabad021000003_012":"With the discovery of monocarboxylate transporter 8 (MCT8) as a specific thyroid hormone transporter and the finding that mutations in this transporter lead to a syndrome of severe psychomotor retardation and elevated serum 3,3',5-tri-iodothyronine levels known as the Allan-Herndon-Dudley syndrome, the interest in this area of research has greatly increased. ","52bf1f1303868f1b06000014_003":"The aim of this study was to examine gonadotropin regulation of antioxidant enzyme sulfiredoxin (Srx) and peroxiredoxin 2 (PRDX2) expressions and modification during the ovulatory process in rats. ","5323640b9b2d7acc7e000014_002":"Mutations in Notch3 gene are linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disorder characterized by stroke and dementia in young adults","5891c90949702f2e01000001_002":"INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.","58d8e6818acda3452900000a_001":"The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. ","571f33bd0fd6f91b68000003_009":"Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome","5a6900ebb750ff445500001d_002":"Furthermore, we found that Finkelstein's test can give a false positive result. Therefore, ultrasound should not only be considered to improve the treatment outcome, but can also be useful as a diagnostic tool in the management of de Quervain's disease.","5710a592cf1c32585100002a_003":"The Bacillus anthracis toxin genes, cya, lef, and pag, can be viewed as a regulon, in which transcription of all three genes is activated in trans by the same regulatory gene, atxA, in response to the same signal, CO2","571e12097de986d80d000017_010":"By inhibiting reabsorption of glucose from the proximal tubules in the kidney via inhibition of SGLT2, empagliflozin provides a novel insulin-independent mechanism of lowering blood glucose.","58bc5e2202b8c60953000002_006":"Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10\u00a0% of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.","5a7237672dc08e987e000008_025":"RESULTS Idarucizumab represents a novel treatment option as it is the only humanized, monoclonal antibody fragment that specifically binds to dabigatran.","551fd9c06b348bb82c000012_016":"INTERPRETATION: The ROSIER scale was effective in the initial differentiation of acute stroke from stroke mimics in the ER.","51635202298dcd4e5100004f_004":"Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal dominant pattern of inheritance, variable expressivity and incomplete penetrance.","54d907c84b1fd0d33c000008_002":" Patients were assigned to receive mepolizumab, a humanized monoclonal antibody against interleukin-5, which was administered as either a 75-mg intravenous dose or a 100-mg subcutaneous dose, or placebo every 4 weeks for 32 weeks. ","5a774fdcfaa1ab7d2e000008_022":"53BP1 and TIRR form a stable complex, which is required for their expression.","58bcabc702b8c6095300000e_001":"Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis.","56b76f496e3f8eaf4c000002_002":"Spt-Ada-Gcn5-acetyltransferase (SAGA) ","532f55fed6d3ac6a34000036_019":"cDNA clones containing the entire coding sequence of human glucocerebrosidase were isolated from libraries originated from Gaucher patients","58bfd8e902b8c60953000018_020":"Necrobiosis lipoidica diabeticorum is an unusual dermatologic condition with a characteristic clinical appearance and a clear association with diabetes mellitus.","58861d413b87a8a738000002_013":"The Davidson Trauma Scale (DTS) was developed as a self-rating for use in diagnosing and measuring symptom severity and treatment outcome in post-traumatic stress disorder (PTSD); 630 subjects were identified by random digit dialing and evaluated for a history of trauma. ","55475dc2f35db75526000001_005":"Botulism is a serious neuroparalytic disease caused by toxins of Clostridium botulinum. Botulinum toxin is produced under anaerobic conditions and is one of the most dangerous toxin in the world.","56df03c751531f7e3300000a_002":"Monitoring m6A levels upon WTAP depletion allowed the definition of accurate and near single-nucleotide resolution methylation maps and their classification into WTAP-dependent and -independent sites. WTAP-dependent sites are located at internal positions in transcripts, topologically static across a variety of systems we surveyed, and inversely correlated with mRNA stability, consistent with a role in establishing \"basal\" degradation rates.","56c1f02aef6e39474100004b_001":"Siltuximab, a chimeric monoclonal antibody with high affinity and specificity for interleukin-6, has been shown to enhance anti-multiple myeloma activity of bortezomib and corticosteroid in vitro.","5171438a8ed59a060a000007_004":"Mutational screening of the RET gene identified a common mutation (C618R) in all 8 (7 FMTC and 1 MEN2A)","58bfd8e902b8c60953000018_001":"A 32-year-old woman with type 2 diabetes mellitus suffering from morbid obesity with BMI 45,14\u2009kg\/m(2) was operated on. Not only the type 2DM but also one of its complication known as necrobiosis lipoidica diabeticorum remitted postoperatively.","58bca2f302b8c6095300000c_002":"Turner syndrome is a genetic disorder caused by the complete or partial absence of an X chromosome in affected women","554140ad182542114d000003_002":"mpMoRFsDB provides valuable information related to disorder-based protein-protein interactions in membrane proteins","58cbb98c02b8c60953000034_066":"The tyrosinase gene family of proteins (tyrosinase, TRP1, and TRP2) regulate the type of eumelanin synthesized and mutations affecting them result in OCA1, OCA3, and slaty (in the murine system), respectively.","5343fc1aaeec6fbd07000003_033":"This neoplastic lesion is a common feature of neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders. The NF1 gene codes for a protein called \"neurofibromin.","5171438a8ed59a060a000007_006":"Activating germline RET mutations are presented in patients with familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A and 2B, whereas inactivating germline mutations in patients with Hirschsprung's disease (HSCR). The aim of this study was to evaluate genotype-phenotype correlations of the frequently discussed Tyr791Phe mutation in exon 13 of the RET proto-oncogene. Screening of three groups of patients was performed (276 families with medullary thyroid carcinoma (MTC), 122 families with HSCR, and 29 patients with pheochromocytoma). We found this mutation in 3 families with apparently sporadic MTC, 3 families with FMTC\/MEN2, 1 patient with pheochromocytoma, and 3 families with HSCR.","5710e131a5ed216440000001_018":"The size variation was shown to be derived from size changes in the rDNA cluster region, which is present in chromosome XII, by digesting the chromosome with XhoI, whose cutting site is not present in a rDNA repeat unit, and hybridizing to rDNA probes.","511a3573df1ebcce7d000018_003":"The 15 members of the kallikrein-related serine peptidase (KLK) family have diverse tissue-specific expression profiles and putative proteolytic functions.","587e1a01fc7e8dd84f000001_004":"RADAR: a rigorously annotated database of A-to-I RNA editing.","531464a6e3eabad021000014_009":"A novel XK splice site mutation (IVS1-1G>A) has been identified in a McLeod patient who has developed hematologic, neuromuscular, and neurologic symptoms. This is the first reported example of a XK point mutation affecting the 3' acceptor splice site of Intron 1, and it was demonstrated that this mutation indeed induces aberrant splicing of XK RNA and lack of XK protein at the RBC membrane.","5118dd1305c10fae75000001_011":"Disease patterns in RA vary between the sexes; the condition is more commonly seen in women, who exhibit a more aggressive disease and a poorer long-term outcome.","5149f494d24251bc0500004c_016":" The proportion of clinicians willing to use naloxone in an opioid overdose rose from 77% to 99% after training. Barriers to implementing training were clinician time and confidence, service resources, client willingness and naloxone formulation.","56c048acef6e39474100001c_007":"Treatment with imetelstat resulted in inhibition of telomerase activity, marked telomere shortening, and activation of the DNA damage response pathway, as measured by formation of \u03b3-H2AX nuclear foci, phosphorylation of ATM, and phosphorylation of TP53.","589a247078275d0c4a000035_020":"SUMMARY Dinutuximab (Unituxin, United Therapeutics) is a novel monoclonal antibody recently approved for use in combination with granulocyte- macrophage colony-stimulating factor, interleukin-2, and isotretinoin for the treatment of pediatric patients with high-risk neuroblastoma.","58cbb98c02b8c60953000034_003":"To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.","5a67b2f7b750ff445500000f_007":"Fifteen women with a clinical and urodynamic diagnosis of stress urinary incontinence had a negative Q-tip test (greater than or equal to 30 degrees Q-tip angle change on straining).","58eb9542eda5a57672000007_013":"A limited set of NBs also contained coilin, a marker protein for Cajal bodies (CBs).","54e1bdacae9738404b000009_001":"Riociguat (adempas): a novel agent for the treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.","5519110f622b19434500000c_006":"Shprintzen-Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan-like habitus, mental retardation and craniosynostosis. ","5a774fdcfaa1ab7d2e000008_020":"These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.<br>","5891f9e549702f2e01000002_041":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is a common movement disorder characterised by an uncontrollable urge to move because of uncomfortable, sometimes painful sensations in the legs with a diurnal variation and a release with movement.","536e46f27d100faa09000012_007":"Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.","58e23ec66fddd3e83e000010_002":" European honey bees (Apis mellifera)","56c1d856ef6e394741000032_006":"Ficolin-1, -2 and -3 are recognition molecules in the lectin complement pathway and form complexes with serine proteases named MASP-1, -2 and -3 and two nonenzymatic proteins. MASP-2 is the main initiator of lectin pathway activation, while ficolin-3 is the most abundant ficolin molecule in the circulation.","5880b073c872c95565000003_001":"Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.","5518e7da622b194345000004_005":"activated c-Jun N-terminal kinase (JNK)","531464a6e3eabad021000014_052":"The McLeod syndrome is an X-linked disorder caused by mutations of the XK gene encoding the XK protein.","56e0447a51531f7e3300000b_015":" Replicating circular RNAs are independent plant pathogens known as viroids, or act to modulate the pathogenesis of plant and animal viruses as their satellite RNAs. The rate of discovery of these subviral pathogens was low over the past 40 years because the classical approaches are technical demanding and time-consuming.","5880a8ec0a76a87357000001_002":"CAFE: an R package for the detection of gross chromosomal abnormalities from gene expression microarray data.","5a761ac3aacfb9cd4c000002_006":"f hypoglycemia is associated with a solitary fibrous tumor, it is referred to as the Doege-Potter syndrome.","54f9b74306d9727f76000004_003":"In this article, we synthesize derivatives of the channel activator 4-chloro-3-methyl phenol (4-CmC) and the 1,4-benzothiazepine channel inhibitor 4-[-3{1-(4-benzyl) piperidinyl}propionyl]-7-methoxy-2,3,4,5-tetrahydro-1,4-benzothiazepine (K201, JTV519) with enhanced electron donor properties.","551fd9c06b348bb82c000012_009":" DIAGNOSTIC SCALES: The results of an assessment with the Recognition of Stroke in the Emergency Room (ROSIER) scale, the Face Arm Speech Test (FAST) scale and the diagnosis of definite or probable stroke by an emergency department.","5890e163621ea6ff7e000004_004":"Areas covered: This manuscript is a review that examines both the pharmacological properties and clinical studies of tanezumab, the most widely studied antibody to NGF, for management of osteoarthritis (OA) and low back pain. ","5891c90949702f2e01000001_019":"Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","589a246078275d0c4a00002a_019":"BACKGROUND: The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.OBJECTIVE: The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.METHODS: RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks. ","536e46f27d100faa09000012_006":"Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.","5abd13e1fcf4565872000029_002":"A 16-year-old boy developed left foot pain of unknown cause that was unresponsive to conservative treatment, associated with fever and difficulty walking. He was admitted to our hospital with osteomyelitis of the accessory and body of the navicular bone","532dcfc9d6d3ac6a34000021_021":" The evolutionarily conserved SET domain occurs in most proteins known to possess histone lysine methyltransferase activity","56f4011709dd18d46b000003_001":"Marfan syndrome is a multisystemic connective tissue disorder caused mainly by mutations in the fibrillin-1 gene. The entire cardiovascular system is affected in patients with Marfan syndrome. Aortic root dilatation, aortic valve regurgitation or - the most feared and life-threatening symptom - aortic root dissection are the most common manifestations.","56c8274f5795f9a73e00000d_004":"Development of an in vitro model system for ALS is expected to help in obtaining novel insights into disease mechanisms and discovery of therapeutics. We report the establishment of an in vitro FALS model from human embryonic stem cells overexpressing either a wild-type (WT) or a mutant SOD1 (G93A) gene and the evaluation of the phenotypes and survival of the spinal motor neurons (sMNs), which are the neurons affected in ALS patients.","58bc5e2202b8c60953000002_002":"C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand","587e1bfdfc7e8dd84f000002_001":"GBshape: a genome browser database for DNA shape annotations","5171438a8ed59a060a000007_007":"Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RET exons 10, 11, and 13-16","58cbb98c02b8c60953000034_061":"Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.","551fd9c06b348bb82c000012_014":"We designed and validated a stroke recognition tool-the Recognition of Stroke in the Emergency Room (ROSIER) scale-for use by ER physicians.","55032efde9bde69634000035_001":"In vivo quantification of calcitonin gene-related peptide receptor occupancy by telcagepant in rhesus monkey and human brain using the positron emission tomography tracer [11C]MK-4232.","5a896c26fcd1d6a10c000007_004":"The results found that 8 patients (38.1%) with DBA had mutations in the genes coding for ribosomal protein, in which RPS19 mutation was identified in 3 patients, RPS24, RPS7, RPL5, RPL11 and RPL35A mutations were identified respectively in 1 of the patient.","56c1f00cef6e39474100003e_001":"Effects of the dual peroxisome proliferator-activated receptor-\u03b1\/\u03b3 agonist aleglitazar on renal function in patients with stage 3 chronic kidney disease and type 2 diabetes: a Phase IIb, randomized study.","55242d512c8b63434a000006_001":"Imaging the cerebral serotonin 2A (5-HT2A ) receptors with positron emission tomography (PET) has been carried out in humans with [(11) C]MDL 100907 and [(18) F]altanserin.","58bc5e2202b8c60953000002_008":"Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10\u00a0% of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.","5a774fdcfaa1ab7d2e000008_005":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5ace19420340b9f05800000a_016":"The melanocortin 1 receptor (MC1R): more than just red hair.","58861d413b87a8a738000002_008":"The purpose of this paper is to assess the reliability and validity of the Spanish version of the Davidson trauma scale (DTS-S) and to determine the prevalence and correlates of post-traumatic stress disorder (PTSD) symptoms in a non-clinical random sample of prison inmates.Probabilistic samples of 1,179 inmates from 26 penal institutions in Puerto Rico were selected using a multistage sampling design","5a6f853ab750ff4455000055_003":"Probe-to-bone test and simple X-rays are both standard tests for the diagnosis of diabetic foot osteomyelitis. This study demonstrates the importance of considering jointly clinical information (probe-to-bone test) and diagnostic tests (simple radiography) to increase agreement among clinicians on diagnosis of diabetic foot osteomyelitis.","56f564f909dd18d46b000009_006":"Disease-causing mutations in the genes encoding perforin (PRF1, FHL2), munc13-4 (UNC13D, FHL3), syntaxin 11 (STX11, FHL4), and munc18-2 (UNC18-2\/STXBP2, FHL5) have been previously identified in Familial Hemophagocyic Lymphohistiocytosis (FHL), whereas mutation in RAB27A and LYST account for Griscelli syndome type 2 and Chediak-Higashi syndrome, respectively","5ace19420340b9f05800000a_028":"Sequence variation in the melanocortin-1 receptor (MC1R) gene is associated with red hair in the normal population, but red hair is unusual in OCA.","58f4b9d470f9fc6f0f000016_006":"Francisella tularensis causes disease (tularemia) in a large number of mammals, including man","5a6e24a5b750ff445500003c_004":"the recount2 resource is composed of over 70 000 uniformly processed human rna seq samples spanning tcga and sra including gtex the processed data can be accessed via the recount2 website and the bioconductor package this workflow explains in detail how to use the package and how to integrate it with other bioconductor packages for several analyses that can be carried out with the recount2 resource in particular we describe how the coverage count matrices were computed in recount2 as well as different ways of obtaining public metadata which can facilitate downstream analyses step by step directions show how to do a gene level differential expression analysis visualize base level genome coverage data and perform an analyses at multiple feature levels this workflow thus provides further information to understand the data in recount2 and a compendium of r code to use the data.","5891f9e549702f2e01000002_019":"BACKGROUND: Since the publication of the first European Federation of Neurological Societies (EFNS) guidelines in 2005 on the management of restless legs syndrome (RLS; also known as Willis-Ekbom disease), there have been major therapeutic advances in the field. ","589185cc621ea6ff7e00000b_003":"Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension.","5880b073c872c95565000003_035":"With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors. ","52c7275103868f1b0600001c_004":"We report two observations of antenatal diagnosis of Apert syndrome. This uncommon genetic disorder suggest an autosomal dominant inheritance, but almost all cases described are sporadic; the responsible gene is yet not located.","531464a6e3eabad021000014_043":"Fifteen different XK mutations were found, nine of which were novel, including the one of the eponymous case McLeod. ","516e7fda298dcd4e51000081_008":"To control the enzymatic activity of vSET in vivo with an engineered S-adenosyl-l-methionine (SAM) analogue as methyl donor cofactor, we have carried out structure-guided design, synthesis, and characterization of orthogonal vSET methyltransferase mutant\/SAM analogue pairs using a \"bump-and-hole\" strategy.","5171438a8ed59a060a000007_010":"Medullary thyroid carcinoma (MTC) occurs both sporadically and in the context of autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), which are caused by activating germline mutations in the RET proto-oncogene.","5506c3e38e1671127b00000a_015":"We have recently shown that the Na(+)\/Ca(2+) exchanger (NCX) is involved in nitric oxide (NO)-induced cytotoxicity in cultured astrocytes and neurons. However, there is no in vivo evidence suggesting the role of NCX in neurodegenerative disorders associated with NO. NO is implicated in the pathogenesis of neurodegenerative disorders such as Parkinson's disease. This study examined the effect of SEA0400, the specific NCX inhibitor, on 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced dopaminergic neurotoxicity, a model of Parkinson's disease, in C57BL\/6J mice.","58f0b0c070f9fc6f0f000006_001":"Valbenazine granted breakthrough drug status for treating tardive dyskinesia.","5891c90949702f2e01000001_004":"INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.","56f564f909dd18d46b000009_008":"Chediak-Higashi syndrome is a genetic disorder caused by mutations in a gene encoding a protein named LYST in humans (&quot;lysosomal trafficking regulator&quot;) or Beige in mice","571e12097de986d80d000017_003":"Effect of food on the pharmacokinetics of empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, and assessment of dose proportionality in healthy volunteers.","554140ad182542114d000003_003":"mpMoRFsDB: a database of molecular recognition features in membrane proteins.","55421ee7ccca0ce74b000002_039":"The p53 gene is involved in genome stability and thus is referred to as \"the guardian of the genome.\" To better understand the antigenotoxic effects of p53 in ultraviolet light B (UVB)-induced mutagenesis, mutations were measured in the epidermis of UVB-irradiated p53(+\/+) and p53(-\/-) gpt delta mice","52bf208003868f1b06000019_001":"Li-Fraumeni Syndrome (LFS) is characterized by early-onset carcinogenesis involving multiple tumor types and shows autosomal dominant inheritance.","5149f494d24251bc0500004c_017":" The proportion of clinicians willing to use naloxone in an opioid overdose rose from 77% to 99% after training. Barriers to implementing training were clinician time and confidence, service resources, client willingness and naloxone formulation.","58861d413b87a8a738000002_007":"The purpose of this paper is to assess the reliability and validity of the Spanish version of the Davidson trauma scale (DTS-S) and to determine the prevalence and correlates of post-traumatic stress disorder (PTSD) symptoms in a non-clinical random sample of prison inmates.Probabilistic samples of 1,179 inmates from 26 penal institutions in Puerto Rico were selected using a multistage sampling design","52e8e93498d023950500001e_001":"autosomal dominant mode of inheritance","52f509512059c6d71c000020_001":"Congenital short QT syndrome is a new familial primary electrical disease of the heart, which is characterized by abnormally short QT interval and paroxysmal atrial and ventricular tachyarrhythmias, including sudden cardiac death. An autosomal dominant mode of inheritance has been suggested. ","5a7237672dc08e987e000008_018":"INTRODUCTION Idarucizumab is a reversal agent for dabigatran etexilate.","58f4b25e70f9fc6f0f000011_005":"Risk of Acute Liver Failure in Patients With Drug-Induced Liver Injury: Evaluation of Hy's Law and a New Prognostic Model.","54ede28094afd61504000003_001":"Fanconi anemia (FA) is an autosomal disorder that causes genome instability. FA patients suffer developmental abnormalities, early-onset bone marrow failure, and a predisposition to cancer. The disease is manifested by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromosomal aberrations.","5895f7e978275d0c4a000001_005":"In 1976, over 100 years after Jamaican vomiting sickness (JVS) was first reported, the cause of JVS was linked to the ingestion of the toxin hypoglycin A produced by ackee fruit.","5314bd7ddae131f847000006_006":"Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years.","5518e7da622b194345000004_016":"JNK phosphorylates and regulates the activity of transcription factors other than c-Jun, including ATF2, Elk-1, p53 and c-Myc and non-transcription factors, such as members of the Bcl-2 family.","550f0e4c6a8cde6b72000003_034":"Facioscapulohumeral Disease (FSHD) is a dominantly inherited progressive myopathy associated with aberrant production of the transcription factor, Double Homeobox Protein 4 (DUX4). The expression of DUX4 depends on an open chromatin conformation of the D4Z4 macrosatellite array and a specific haplotype on chromosome 4.","5884c72fe56acf517600000f_003":"Near infrared photoimmunotherapy with avelumab, an anti-programmed death-ligand 1 (PD-L1) antibody.","56c079b1ef6e394741000022_002":"We examined the efficacy of idarucizumab, an antibody fragment binding to dabigatran, in a mouse model of OAC-ICH. Dabigatran etexilate (DE) dose-dependently prolonged diluted thrombin time and tail-vein bleeding time, which were reversed by idarucizumab. ","5ace238e0340b9f05800000d_007":"Origin of human chromosome 2: an ancestral telomere-telomere fusion.","51631154298dcd4e5100004e_003":"bortezomib have emerged as effective treatment in patients with multiple myeloma (MM).","54f9b74306d9727f76000004_012":"A newly synthesized benzothiazepine derivative, JTV-519 (JT) has been reported to be cardioprotective.","5a6e42f1b750ff4455000046_004":"The aim of this study was to determine the relationship between clinical findings and the most common mutated alleles of MEFV gene in a childhood population and to determine the sensitivity of the 12-mutation-strip assay test in familial Mediterranean fever (FMF).","58e74bff3e8b6dc87c000004_008":"Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.","55032efde9bde69634000035_009":"BACKGROUND: The calcitonin gene-related peptide (CGRP) receptor antagonists olcegepant and telcagepant are very potent drugs. ","571f33bd0fd6f91b68000003_006":"Two cases of Sotos syndrome with novel mutations of the NSD1 gene.","514a0a57d24251bc05000051_007":"Flumazenil is indicated for reversal of sedation from benzodiazepines administered during therapeutic or diagnostic procedures and during induction or maintenance of general anesthesia, as well as for benzodiazepine overdose.","534427f8aeec6fbd07000009_004":"A common goal of tumor sequencing projects is finding genes whose mutations are selected for during tumor development. This is accomplished by choosing genes that have more non-synonymous mutations than expected from an estimated background mutation frequency.","56c1f009ef6e39474100003c_002":"NTERPRETATION: Oral eliglustat maintained haematological and organ volume stability in adults with Gaucher's disease type 1 already controlled by intravenous ERT and could be a useful therapeutic option.","51387022bee46bd34c000002_002":"This result suggests that there is widespread adaptation in mammalian conserved noncoding DNA elements, some of which have been implicated in the regulation of crucially important processes, including development.","54d907c84b1fd0d33c000008_003":"Mepolizumab is a humanized monoclonal antibody that blocks binding of the key cytokine implicated specifically in eosinophil maturation and survival, interleukin-5, to its receptor.","56a24dfffe92d6fd19000002_002":"We previously conducted a proof of principle; dose escalation study in Duchenne muscular dystrophy (DMD) patients using the morpholino splice-switching oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein expression after intramuscular (i.m.)","550e828c71445a662f000002_005":"Gevokizumab is claimed to be a regulatory therapeutic antibody that modulates IL-1\u03b2 bioactivity by reducing the affinity for its IL-1RI:IL-1RAcP signaling complex. How IL-1\u03b2 signaling is affected by both canakinumab and gevokizumab was not yet experimentally determined. We have analyzed the crystal structures of canakinumab and gevokizumab antibody binding fragment (Fab) as well as of their binary complexes with IL-1\u03b2. ","588f8e9794c1512c50000005_008":"Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation.","56cb9b065795f9a73e000032_005":"Tripolin A, a novel small-molecule inhibitor of aurora A kinase, reveals new regulation of HURP&apos;s distribution on microtubules","55032efde9bde69634000035_011":"In 3 randomized clinical trials (n = 1585) the calcitonin gene-related peptide antagonist telcagepant 300 mg orally had an incidence of adverse events similar to placebo when used in the acute treatment of migraine. ","56c8f4615795f9a73e00001a_009":"Whereas higher-order effects, such as chromatin accessibility, cooperativity and cofactors, have been described, DNA shape recently gained attention as another feature that fine-tunes the DNA binding specificities of some transcription factor families. Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms.","56cb9b065795f9a73e000032_006":"In this study, from a panel of 105 potential small-molecule inhibitors, two compounds Tripolin A and Tripolin B, inhibited Aurora A kinase activity in vitro. In human cells however, only Tripolin A acted as an Aurora A inhibitor.","589a246078275d0c4a00002a_029":"To report safety and efficacy outcomes from up to 9 years of treatment with teriflunomide in an extension (NCT00803049) of the pivotal phase 3 Teriflunomide Multiple Sclerosis Oral (TEMSO) trial (NCT00134563).A total of 742 patients entered the extension.","587e3129c32c812009000002_002":"Here, we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD","55242d512c8b63434a000006_026":"MZ and [(18) F]altanserin was blocked by ketanserin supporting that both radioligands bind to 5-HT2A receptors in the pig brain","5ace37d50340b9f058000011_014":"The authors observed no differences in the radiographic appearances of pulmonary cryptococcal disease between human immunodeficiency virus (HIV) patients and other immunocompromised individuals.","53551206a0726bee57000001_002":"Cardiotoxicity is a major adverse effect of the anthracycline antibiotics and can be acute or chronic;","54e8c7220fc566b149000002_001":"S100A4 interacts with p53 in the nucleus","5709ee36cf1c32585100001e_002":"DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.","570917bccf1c325851000015_001":"Histone acetylation controls, almost exclusively, euchromatin protein dynamics; lamin A expression regulates heterochromatin protein dynamics, and G9a regulates both euchromatin and heterochromatin protein dynamics.","5343fc1aaeec6fbd07000003_021":"Neurofibromatosis 1 gene (NF1 ) fulfills the criteria of a tumor suppressor gene and is deleted or mutated heterozygously in patients with NF1","571f33bd0fd6f91b68000003_012":"Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.","5a67b2f7b750ff445500000f_004":"METHODS: A total of 25 women affected by clinical stress urinary incontinence (SUI) were enrolled. After undergoing urodynamic assessment, pelvic organ prolapse quantification, urine culture, Q-tip test, and stress test, each subject underwent color Doppler ultrasonography to record clitoral blood flow and EMG of the urethral sphincter with a needle electrode inserted through the mucosa into the muscle tissue before surgery. ","5506c3e38e1671127b00000a_046":"The effects of 2-[4-[(2,5-difluorophenyl) methoxy]phenoxy]-5-ethoxyaniline (SEA0400), a newly synthesized Na(+)-Ca(2+) exchanger (NCX) inhibitor, on the NCX current and other membrane currents were examined in isolated guinea-pig ventricular myocytes and compared with those of 2-[2-[4-(4-nitrobenzyloxy) phenyl]ethyl]isothiourea (KB-R7943). SEA0400 concentration-dependently inhibited the NCX current with a 10 fold higher potency than that of KB-R7943; 1 microM SEA0400 and 10 microM KB-R7943 inhibited the NCX current by more than 80%. KB-R7943, at 10 microM, inhibited the sodium current, L-type calcium current, delayed rectifier potassium current and inwardly rectifying potassium current by more than 50%, but SEA0400 (1 microM) had no significant effect on these currents.","58cbb98c02b8c60953000034_059":"Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.","57136a7e1174fb1755000006_006":"We performed a review of the published literature evaluating the use of cffDNA and ultrasound for prenatal determination of fetal sex during the first trimester of pregnancy","58efa36d70f9fc6f0f000004_001":"Tardive dyskinesia (TD) is a movement disorder characterized by abnormal involuntary facial movements induced by chronic therapy with classical antipsychotic medications.","551fd9c06b348bb82c000012_013":"We designed and validated a stroke recognition tool-the Recognition of Stroke in the Emergency Room (ROSIER) scale-for use by ER physicians.","5147c8a6d24251bc05000027_013":"6-Hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside (HMGal) has been shown to be a specific fluorogenic substrate of galactocerebrosidase and to facilitate the simple enzymatic diagnosis of Krabbe disease in human patients and in twitcher mice.","530f900ee3eabad021000003_006":"Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor retardation characterized by neurological impairment and abnormal thyroid hormone (TH) levels. ","5a804f71faa1ab7d2e00001d_003":"Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision medicine. We developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length. We applied our algorithm to WGS data from 3001 ALS patients who have been tested for the presence of theC9orf72repeat expansion with repeat-primed PCR (RP-PCR). Compared against this truth data, ExpansionHunter correctly classified all (212\/212, 95% CI [0.98, 1.00]) of the expanded samples as either expansions (208) or potential expansions (4). Additionally, 99.9% (2786\/2789, 95% CI [0.997, 1.00]) of the wild-type samples were correctly classified as wild type by this method with the remaining three samples identified as possible expansions. We further applied our algorithm to a set of 152 samples in which every sample had one of eight different pathogenic repeat expansions, including those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and correctly flagged all but one of the known repeat expansions. Thus, ExpansionHunter can be used to accurately detect known pathogenic repeat expansions and provides researchers with a tool that can be used to identify new pathogenic repeat expansions.","587e3e302420191125000002_002":"Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.","5506c3e38e1671127b00000a_042":"Using SEA0400, a potent and selective inhibitor of the Na+-Ca2+ exchanger (NCX), we examined whether NCX is involved in nitric oxide (NO)-induced disturbance of endoplasmic reticulum (ER) Ca2+ homeostasis followed by apoptosis in cultured rat microglia.","571f5c150fd6f91b68000009_016":"The neurodegenerative disorder FRDA (Friedreich&apos;s ataxia) results from a deficiency in frataxin, a putative iron chaperone, and is due to the presence of a high number of GAA repeats in the coding regions of both alleles of the frataxin gene, which impair protein expression","51585b28d24251bc0500008d_021":"Maintenance of genomic methylation patterns is mediated primarily by DNA methyltransferase-1 (DNMT1).","532366f09b2d7acc7e000015_003":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported","5ace19420340b9f05800000a_054":"Red hair color is caused by variants of the melanocortin-1 receptor (MC1R) gene.","56d860ad51531f7e33000002_007":"A novel mutation in the endosomal Na+\/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).","55032e65e9bde69634000034_016":"MRI brain revealed characteristic features diagnostic of congenital type of cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome.","5118dd1305c10fae75000001_001":"Our results show a high prevalence of RA in LAC women with a ratio of 5.2 women per man","54d649843706e89528000009_007":"Olaparib is a poly(ADP-ribose) polymerase inhibitor","58a5a51060087bc10a000021_010":"The p47phox- and NADPH oxidase organiser 1 (NOXO1)-dependent activation of NADPH oxidase 1 (NOX1) mediates endothelial nitric oxide synthase (eNOS) uncoupling and endothelial dysfunction in a streptozotocin-induced murine model of diabetes.","554148c23f2354b713000001_005":"LepChorionDB, a database of Lepidopteran chorion proteins and a set of tools useful for the identification of chorion proteins in Lepidopteran proteomes.","593ff22b70f9fc6f0f000023_001":"The groucho-related genes (Grg) of the mouse comprise at least four family members.","5a7617b183b0d9ea66000022_001":"The hepatocyte growth factor receptor (MET) was targeted in untreated patients in a phase III trial with MoAb rilotumumab, with or without CT, but the study was stopped because of mortality excess in the rilotumumab arm. ","5a804f71faa1ab7d2e00001d_005":"We developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length.","550af222c2af5d5b7000000b_003":"IkappaB degradation is dependent upon its phosphorylation by the IkappaB kinase (IKK) complex and subsequent ubiquitination facilitated by beta-Trcp E3 ubiquitin ligase.","5880aef4c872c95565000001_029":"Daratumumab is a novel human CD38 monoclonal antibody which kills CD38+ multiple myeloma cells via antibody-dependent cell-mediated cytotoxicity, complement-dependent cytotoxicity and apoptosis.DESIGN AND METHODS: To explore the effect of lenalidomide combined with daratumumab, we first carried out standard antibody-dependent cell-mediated cytotoxicity and complement-dependent cytotoxicity assays in which the CD38+ multiple myeloma cell line UM-9 and primary multiple myeloma cells isolated from patients were used as target cells.","55032efde9bde69634000035_020":"Studies were conducted in human isolated coronary arteries to explore the vascular effects of the calcitonin gene-related peptide (CGRP) receptor antagonist telcagepant and to compare its coronary vasoconstrictive potential to that of zolmitriptan. ","58cbb98c02b8c60953000034_020":"Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500).","54d649843706e89528000009_004":"Olaparib (AZD-2281, Ku-0059436) is an orally bioavailable and well-tolerated poly(ADP-ribose) polymerase (PARP) inhibitor currently under investigation in patients with solid tumors.","54f35ad864850a5854000004_004":"Semagacestat (LY450139) is a novel \u03b3-secretase inhibitor currently in late-stage development by Eli Lilly and Company as a potential treatment for Alzheimer's disease (AD). ","530f900ee3eabad021000003_004":"In two generations its presence was detected in the hemizygous state in two males with neurological abnormalities including mental retardation, axial hypotonia, hypertonia of arms and legs and athetoid movements. One of them presented normal thyroid hormone levels. ","56f7c15a09dd18d46b000012_005":"Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2","530cefaaad0bf1360c000012_015":"All patients showed low levels of ferritin and iron supplementation was effective in five cases. ","531464a6e3eabad021000014_008":"The responsible XK mutation was characterized at the mRNA level by reverse transcription-polymerase chain reaction (PCR), identified by genomic DNA sequencing, and verified by allele-specific PCR.","5891f9e549702f2e01000002_006":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is a common sensorimotor disorder that can generally be effectively managed in the primary care clinic","5ac3699f0340b9f058000001_003":"We report that rapid evolution of enhancers is a universal feature of mammalian genomes. ","55054f8af73303d458000002_005":"Bulk bone collagen isotopic analysis of 11 skeletons of Iron Age and Roman date gave a typical C(3) terrestrial signal (","55200c606b348bb82c000013_012":"Direct factor Xa inhibitors include rivaroxiban, which has shown promising results for VTE prophylaxis and is being studied for VTE treatment, as well as apixaban and betrixaban, which are at earlier stages of clinical validation.","589a247078275d0c4a000035_009":"The recommended dosage of dinutuximab is 17.5 mg\/m<br><b>CONCLUSION<\/b>: Dinutuximab is a novel monoclonal antibody that is efficacious as part of combination immunotherapy in pediatric patients with high-risk neuroblastoma.<br>","5a896c26fcd1d6a10c000007_002":"Twenty-one cases of DBA admitted in our hospital from Dec 2008 to Aug 2012 were screened by PCR for mutations in the nine known genes associated with DBA: RPS19, RPS24, RPS17, RPL5, RPL11, RPS7, RPL35a, RPS10 and RPS26","5a4e50b242878bf97d000001_001":"Yeast DNA topoisomerase II is encoded by a single-copy, essential gene.","5324a8ac9b2d7acc7e000018_005":"hiladelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is triggered by constitutively activated BCR-ABL","56c1d857ef6e394741000033_006":"Opicapone is a novel third generation catechol-O-methyltransferase (COMT) inhibitor.","5353aedb288f4dae47000006_001":"Xist, a gene responsible for X chromosome inactivation (XCI)","536e46f27d100faa09000012_008":"Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the deficient activity of hexosaminidase A due to mutations in the HEXA gene.","5353aedb288f4dae47000006_018":"In eutherian mammals X inactivation is regulated by the X-inactive specific transcript (Xist), a cis-acting non-coding RNA that triggers silencing of the chromosome from which it is transcribed","58dd0dde8acda34529000027_006":"Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1","55242d512c8b63434a000006_014":"In summary, these results demonstrate that the test-retest variability of [18F]altanserin-specific binding is comparable to that of other PET radiotracers and that the regional specific binding of [18F]altanserin in human brain was correlated with the known regional distribution of 5-HT2A receptors.","58bc8e7a02b8c60953000007_008":"Plantar fasciitis is a common cause of heel pain and is the result of a degenerative process of the plantar fascia at its calcaneal attachment.","56d1f790f22319765a000001_012":"In nonsmall cell lung cancer (NSCLC), the threonine(790)-methionine(790) (T790M) point mutation of EGFR kinase is one of the leading causes of acquired resistance to the first generation tyrosine kinase inhibitors (TKIs), such as gefitinib and erlotinib","5a68f448b750ff4455000018_005":"interdigital foot infections are mostly caused initially by dermatophytes yeasts and less frequently by bacteria erythrasma caused by corynebacterium minutissimum can be confused with superficial mycoses the aim of the study was to determine the prevalence of the etiologic agents of superficial mycoses and the frequency of corynebacterium minutissimum in interdigital foot infections all the samples obtained from the 121 patients with interdigital foot infections were examined directly with the use of 20 potassium hydroxide mounts and gram stain under the microscope and cultured on sabouraud s dextrose agar plates in identification of superficial mycoses the rate was found to be 14 with the cultural method and 14 with direct microscopic examination using a combination of direct microscopic examination and culture a 33 8 ratio was achieved in the culture of these samples the most isolated factor was trichophyton rubrum 33 7 in 24 of the patients 19 8 corynebacterium minutissimum was detected by gram staining in 6 of these patients trichophyton rubrum was found trichophyton mentagrophytes was found in 2 and trichosporon spp was found in 1 the examination of interdigital foot lesions in the laboratory the coexistence of erythrasma with dermatophytes and yeast should be considered.","56c1f01def6e394741000045_015":"On the basis of these and other data, orteronel is not undergoing further development in metastatic castration-resistant prostate cancer.FUNDING: Millennium Pharmaceuticals, Inc, a wholly owned subsidiary of Takeda Pharmaceutical Company Limited.","5509bd6a1180f13250000002_003":"Celiac disease is an autoimmune disorder triggered by ingestion of gluten-containing foods. Epidemiologic studies dating from the 1950s established its association with gastrointestinal malignancies, particularly small bowel lymphoma.","56c048acef6e39474100001c_016":"Imetelstat (a telomerase antagonist) exerts off\u2011target effects on the cytoskeleton.","58dd0dde8acda34529000027_005":"Marfan syndrome is an autosomal dominant connective tissue disorder commonly due to mutation of the fibrillin-1 (FBN-1) gene that causes disruption of elastic fibers in large- and medium-size arteries and predisposes to aneurysm formation and arterial dissection","57136a7e1174fb1755000006_004":"We performed a review of the published literature evaluating the use of cffDNA and ultrasound for prenatal determination of fetal sex during the first trimester of pregnancy.","56c3184050c68dd416000003_009":"it is advisable to be very careful in the use of isradipine as a therapy for hypertension and other indications.","5324a8ac9b2d7acc7e000018_064":"CML) is a clonal hematopoietic stem cell disorder characterized by Philadelphia chromosome and resultant production of the constitutively activated BCR-ABL tyrosine kinase. Imatinib (STI571), selective inhibitor of the ABL-tyrosine kinase,","58a2e5f760087bc10a000007_024":"These findings indicate that alpha-synuclein forms the major filamentous component of Lewy bodies and Lewy neurites..","530cefaaad0bf1360c000012_003":"Association of iron deficiency with febrile seizures, pica, breath holding spells, restless leg syndrome and thrombosis is increasingly being recognized.","55201a316b348bb82c000019_001":"The mammalian mitochondrial ribosome (mitoribosome) has a highly protein-rich composition with a small sedimentation coefficient of 55 S, consisting of 39 S large and 28 S small subunits.","54e0d1491388e8454a000014_009":"Evolocumab, a fully human monoclonal antibody to proprotein convertase subtilisin\/kexin type 9 (PCSK9), demonstrated marked reductions in plasma low-density lipoprotein cholesterol (LDL-C) in a phase 2 study in statin-intolerant patients.","54db62a3034aea571d000001_001":"sarcoplasmic reticulum (SR) calcium pump (SERCA)","5abcf010fcf4565872000023_008":"To define the relationship between body indices of healthy adults and cross-sectional areas of the carpal tunnel and median nerve and to obtain the nerve\/tunnel index, which represents a new standard for diagnosing carpal tunnel syndrome using sonography.","54f9cb34dd3fc62544000002_003":"The sarco(endo)plasmic reticulum (SR) Ca(2+) transport ATPase (SERCA2a) and its inhibitor phospholamban (PLN) control the uptake of Ca(2+) by SR membranes during relaxation. Recently, the antiapoptotic HS-1-associated protein X-1 (HAX-1) was identified as a binding partner of PLN, and this interaction was postulated to regulate cell apoptosis.","551fd9c06b348bb82c000012_015":"INTERPRETATION: The ROSIER scale was effective in the initial differentiation of acute stroke from stroke mimics in the ER.","550739cf3b8a5dc045000002_002":"polyadenylation signal AAUAAA ","531464a6e3eabad021000014_061":"Nucleotide sequence analysis of XK from two unrelated McLeod patients has identified point mutations at conserved splice donor and acceptor sites.","5343fc1aaeec6fbd07000003_026":" tumour-suppressor genes, Nf1 and Trp53. Humans with mutations in NF1 develop neurofibromatosis type I (NF1","56f564f909dd18d46b000009_011":"Parkin (PARK2) gene mutations are responsible for juvenile parkinsonism, and possible peripheral nervous system involvement has been reported. Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the \u03b2-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.","514a0a57d24251bc05000051_019":"Flumazenil interacts at the central benzodiazepine receptor to antagonize or reverse the behavioral, neurologic, and electrophysiologic effects of benzodiazepine agonists and inverse agonists.","51596a8ad24251bc0500009e_001":"CEP family protein is the active component of centrosome","5343fc1aaeec6fbd07000003_019":"NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 ","5506c3e38e1671127b00000a_010":"The Na(+)\/Ca(2+)exchanger (NCX) principal function is taking 1 Ca(2+) out of the cytoplasm and introducing 3 Na(+). The increase of cytoplasmic Na(+) concentration induces the NCX reverse mode (NCX(REV)), favoring Ca(2+) influx. NCX(REV) can be inhibited by: KB-R7943 a non-specific compound that blocks voltage-dependent and store-operated Ca(2+) channels; SEA0400 that appears to be selective for NCX(REV), but difficult to obtain and SN-6, which efficacy has been shown only in cardiomyocytes.","5a4df811966455904c00000e_010":"By site-directed mutagenesis, we have demonstrated that invariant residues Asp-261 and Glu-262 of the nucleic acid-binding TFIIS Zn ribbon are critical for stimulation of both elongation and RNA cleavage activities of RNA polymerase II.","550618f58e1671127b000007_002":"Inhibitor 1 (I-1) is a protein inhibitor of protein phosphatase 1 (PP1), a major eukaryotic Ser\/Thr phosphatase. Nonphosphorylated I-1 is inactive, whereas phosphorylated I-1 is a potent PP1 inhibitor. ","5a7237672dc08e987e000008_031":"Idarucizumab also reversed the effects of dabigatran and, unlike PCCs, was not associated with over-correction of thrombin generation.","5a7877c0faa1ab7d2e00000c_004":"Corticosteroids are still the first-line treatment, but alternative therapy with anti-TNF agents, like pentoxifylline, thalidomide and anti-TNF monoclonal antibodies become more interesting, especially in refractory sarcoidosis.","589630f378275d0c4a000007_009":"MLN2238 (ixazomib), an oral proteasome inhibitor, has improved pharmacotherapeutic parameters compared to bortezomib.","58a6db8660087bc10a00002c_010":"In Saccharomyces cerevisiae, chromatin deposition of histone H2AZ is mediated by the fourteen-subunit SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ. ","58f4b25e70f9fc6f0f000011_007":"Hy's Law, which states that hepatocellular drug-induced liver injury (DILI) with jaundice indicates a serious reaction, is used widely to determine risk for acute liver failure (ALF).","5ab90a79fcf456587200001b_003":"Most cases of spinal hematoma have a multifactorial etiology whose individual components are not all understood in detail. In up to a third of cases (29.7%) of spinal hematoma, no etiological factor can be identified as the cause of the bleeding. Following idiopathic spinal hematoma, cases related to anticoagulant therapy and vascular malformations represent the second and third most common categories. Spinal and epidural anesthetic procedures in combination with anticoagulant therapy represent the fifth most common etiological group and spinal and epidural anesthetic procedures alone represent the tenth most common cause of spinal hematoma. Anticoagulant therapy alone probably does not trigger spinal hemorrhage.","514a0a57d24251bc05000051_002":"Flumazenil was administered to 80 patients in 4504 BZD-related enquiries, 68 of whom did not have ventilatory failure or had recognised contraindications to flumazenil.","58b6978822d300530900000a_008":"Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimers disease (AD).We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far","54f9c40ddd3fc62544000001_016":"The functions of NFAT proteins are directly controlled by the calcium- and calmodulin-dependent phosphatase calcineurin","56c3320a50c68dd416000008_003":"Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 to 1:3500 liveborns","5ace238e0340b9f05800000d_012":"Human chromosome 2 is a product of a telomere fusion of two ancestral chromosomes and loss\/degeneration of one of the two original centromeres.","5710e131a5ed216440000001_001":"The rDNA cluster in Saccharomyces cerevisiae is located 450 kb from the left end and 610 kb from the right end of chromosome XII and consists of approximately 150 tandemly repeated copies of a 9.1 kb rDNA unit","5891f9e549702f2e01000002_030":"In the present study, we tested the hypothesis that having migraine in middle age is related to late-life parkinsonism and a related disorder, restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED).The AGES-Reykjavik cohort (born 1907-1935) has been followed since 1967.","56cb9b065795f9a73e000032_007":"In this study, from a panel of 105 potential small-molecule inhibitors, two compounds Tripolin A and Tripolin B, inhibited Aurora A kinase activity in vitro. In human cells however, only Tripolin A acted as an Aurora A inhibitor.","5880b073c872c95565000003_020":"Recent results from phase 3\/4 studies demonstrate efficacy for an antidote to dabigatran (idarucizumab, a monoclonal antibody fragment with specificity for dabigatran) and an antidote to factor Xa inhibitors (andexanet alfa, a recombinant and inactive form of factor Xa that binds inhibitors).","52ee9f55c8da898910000009_001":"The Romano Ward long QT syndrome (LQTS) has an autosomal dominant mode of inheritance.","5ace12be0340b9f058000007_009":"The discovery of the gene responsible, FOXP2, offers a unique opportunity to explore the relevant neural mechanisms from a molecular perspective.","56c048acef6e39474100001c_029":"We sought to evaluate the potential of the thio-phosphoramidate oligonucleotide inhibitor of telomerase, imetelstat, as a drug candidate for treatment of esophageal cancer. ","5a742d620384be9551000002_013":"Alternative scoring models of STOP-bang questionnaire improve specificity to detect undiagnosed obstructive sleep apnea.","5343caffaeec6fbd07000002_001":"selenoprotein P and several other selenoproteins are known to contain multiple selenocysteines","56e6ec49edfc094c1f000005_001":"denosumab, a monoclonal antibody against RANKL","58bfd8e902b8c60953000018_010":"Necrobiosis lipoidica dibeticum (NLD) is a granulomatous skin disease mostly associated with diabetes mellitus","571e14fbbb137a4b0c000001_005":"Pharmacokinetics, pharmacodynamics, safety and tolerability of 4\u00a0weeks' treatment with empagliflozin in Japanese patients with type 2 diabetes mellitus.","587e2300fc7e8dd84f000004_009":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier","532dcfc9d6d3ac6a34000021_016":"(HMT)(1) class enzymes that methylate lysine residues of histones or proteins contain a conserved catalytic core termed the SET domain","55242d512c8b63434a000006_008":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent antagonist of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (9, 10). This led to the development of 3-{2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl}-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (11). 5-HT2A antagonists bind to the total pool of receptors, whereas 5-HT2A agonists bind only to the high-affinity functional state of the receptor but may be more important in disease states because the high affinity sites are the ones that transmit the intracellular signals. ","5324a8ac9b2d7acc7e000018_057":"hiladelphia chromosome translocation (t(9;22)) results in the molecular juxtaposition of two genes, BCR and ABL, to form an aberrant BCR-ABL gene on chromosome 22. BCR-ABL is critical to the pathogenesis of chronic myelogenous leukemia","550c3d45a103b78016000008_004":"Alpha-synuclein (AS) is the main component of Lewy bodies and its aggregation is a key event in the pathogenesis of PD","56c048acef6e39474100001c_001":"The telomerase inhibitor imetelstat alone, and in combination with trastuzumab, decreases the cancer stem cell population and self-renewal of HER2+ breast cancer cells.","571e40a8bb137a4b0c000009_011":"Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. These important detoxification-limiting proteins mediate uptake and clearance of countless drugs and drug conjugates across the sinusoidal hepatocyte membrane.","55421ee7ccca0ce74b000002_020":"Tumor suppressor p53, known as the guardian of the genome, has the ability to prevent the emergence of transformed cells by the induction of cell cycle arrest and apoptosis.","58e74bff3e8b6dc87c000004_004":"Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia","54f608f85f206a0c06000007_001":"Groucho (Gro) is a Drosophila melanogaster transcriptional corepressor","5710e131a5ed216440000001_006":"Notably, strains harboring the 450 kb chromosome XII variant and\/or the 1500 kb variant consisting solely of rDNA had shorter life spans than wild type and also accumulated extrachromosomal rDNA circles","587f7a69d8d850a152000001_003":"We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models. Moreover we describe how fixed-length approximate string matching is applied to solve real problems by incorporating libFLASM into established applications for multiple circular sequence alignment as well as single and structured motif extraction. Specifically, we describe how it can be used to improve the accuracy of multiple circular sequence alignment in terms of the inferred likelihood-based phylogenies; and we also describe how it is used to efficiently find motifs in molecular sequences representing regulatory or functional regions. The comparison of the performance of the library to other algorithms show how it is competitive, especially with increasing distance thresholds.","56ed03862ac5ed1459000004_012":"Initial testing of the investigational NEDD8-activating enzyme inhibitor MLN4924 by the pediatric preclinical testing program.","52ee9f55c8da898910000009_004":"The Romano-Ward syndrome is of autosomal dominant inheritance, and the Jervell and Lange-Nielson syndrome, with associated deafness, of autosomal recessive inheritance. ","5343fc1aaeec6fbd07000003_007":" type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF1 tumor-suppressor gene","5343fc1aaeec6fbd07000003_008":" type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF1 tumor-suppressor gene","58a57f9460087bc10a00001f_002":"Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. ","531464a6e3eabad021000014_001":"The diagnosis of MLS was confirmed by genetic testing showing a hemizygous mutation of XK gene. ","5313058de3eabad02100000e_005":"Transitional lumbosacral vertebrae and low back pain: diagnostic pitfalls and management of Bertolotti's syndrome.","58a32efe60087bc10a000013_045":"There are few more compelling questions in clinical microbiology today than the issue of whether or not to screen for the presence of methicillin-resistant Staphylococcus aureus (MRSA), with the results being used to institute infection control interventions aimed at preventing transmission of MRSA in health care environments.","52f89fc62059c6d71c000050_005":"In 4 lung cancer cell strains, BNIP3L protein was not detected in A549, NCI-H460, NCI-H446, except for NCI-H520, in which the protein expression level was slightly lower than that in immortal bronchial epithelial cell strain HBE4-E6\/E7.","589d965a78275d0c4a000049_007":"Plant pri-miRNAs are transcribed by DNA-dependent RNA polymerase II (Pol II) and their levels are determined through transcription and degradation, whereas pri-miRNA processing is affected by its structure, splicing, alternative splicing, loading to the processor and the processor activity, which involve in many accessory proteins.","5880b073c872c95565000003_002":"Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.","587e3e302420191125000002_004":"LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor","54db62a3034aea571d000001_008":"SERCA is a membrane protein that belongs to the family of P-type ion translocating ATPases and pumps free cytosolic calcium into intracellular stores.","55200c606b348bb82c000013_022":"Nowadays, four new inhibitors of factor Xa are used orally (rivaroxaban, apixaban, edoxaban, betrixaban), and they are at least as efficient as heparins and vitamin K antagonists.","52fa6ac72059c6d71c000055_003":"Bach1, a transcriptional repressor of the HMOX1 gene","58d8e6818acda3452900000a_034":"Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.","5a72329e2dc08e987e000006_002":"Supine films from 44 cases of pneumoperitoneum were randomly interspersed among supine films from 87 control subjects without free air, and the films were reviewed for the presence or absence of various signs of pneumoperitoneum, including Rigler's sign (gas on both sides of the bowel wall), the falciform ligament sign (gas outlining the falciform ligament), the football sign (gas outlining the peritoneal cavity), the inverted-V sign (gas outlining the medial umbilical folds), and the right-upper-quadrant gas sign (localized gas in the right upper quadrant). ","5abcf010fcf4565872000023_005":" Ultrasound is an established method of viewing the median nerve in the carpal tunnel syndrome (CTS)","52bf1d9e03868f1b06000010_005":"In the future, the armamentarium against osteoporotic fractures will likely be enriched by (1.) new bone anabolic substances such as antibodies directed against the endogenous inhibitors of bone formation sclerostin and dickkopf-1, PTH and PTHrp analogues, and possibly calcilytics; (2.) new inhibitors of bone resorption such as cathepsin K inhibitors which may suppress osteoclast function without impairing osteoclast viability and thus maintain bone formation by preserving the osteoclast-osteoblast crosstalk, and denosumab, an already widely available antibody against RANKL which inhibits osteoclast formation, function, and survival; and (3.) new therapeutic strategies based on an extended understanding of the pathophysiology of osteoporosis which may include sequential therapies with two or more bone active substances aimed at optimising the management of bone capital acquired during adolescence and maintained during adulthood in terms of both quantity and quality. ","532498959b2d7acc7e000017_002":"The effects of a novel human telomerase antagonist, imetelstat, on primary human glioblastoma (GBM) tumor-initiating cells were investigated in vitro and in vivo. ","550e828c71445a662f000002_004":"Canakinumab and gevokizumab are highly specific IL-1\u03b2 monoclonal antibodies. ","530cf4c54a5037880c000008_008":"Targeting BTK with ibrutinib in relapsed chronic lymphocytic leukemia.","55475dc2f35db75526000001_011":"An epidemiological investigation and laboratory detection studies showed that sausage contaminated by type A Clostridium botulinum caused this outbreak of food poisoning.","5abcf010fcf4565872000023_011":"Compression of the median nerve at the wrist, or carpal tunnel syndrome, is the most commonly recognized nerve entrapment syndrome.","5506c3e38e1671127b00000a_047":"The effects of 2-[4-[(2,5-difluorophenyl) methoxy]phenoxy]-5-ethoxyaniline (SEA0400), a newly synthesized Na(+)-Ca(2+) exchanger (NCX) inhibitor, on the NCX current and other membrane currents were examined in isolated guinea-pig ventricular myocytes and compared with those of 2-[2-[4-(4-nitrobenzyloxy) phenyl]ethyl]isothiourea (KB-R7943). SEA0400 concentration-dependently inhibited the NCX current with a 10 fold higher potency than that of KB-R7943; 1 microM SEA0400 and 10 microM KB-R7943 inhibited the NCX current by more than 80%. KB-R7943, at 10 microM, inhibited the sodium current, L-type calcium current, delayed rectifier potassium current and inwardly rectifying potassium current by more than 50%, but SEA0400 (1 microM) had no significant effect on these currents.","55376f19bc4f83e82800000c_003":"Medulloblastoma (MB) is the most common malignant pediatric brain tumor which is thought to originate from cerebellar granule cell precursors (CGNPs) that fail to properly exit the cell cycle and differentiate.","54f1e031c409818c32000001_002":"Ecallantide (DX-88) for acute hereditary angioedema attacks: integrated analysis of 2 double-blind, phase 3 studies.","530cefaaad0bf1360c000012_005":" Iron status was generally poor among regular blood donors, especially in women, with a high incidence of iron depletion (>20%) and RLS (18%). ","517194ef8ed59a060a000011_003":"Infection by Plasmodium species, the causative agent of malaria, is currently treated with drug-based therapies, but an increase in drug resistance has led to the need for new methods of treatment.","5147c088d24251bc05000026_003":"The Lambert Eaton syndrome is a paraneoplastic manifestation of small-cell lung cancer in 50% of the cases unlike generalized myasthenia which apparently is never associated with small-cell lung cancer.","56c04412ef6e39474100001b_007":"Daratumumab is a novel, high-affinity, therapeutic human monoclonal antibody against unique CD38 epitope with broad-spectrum killing activity. ","5891f9e549702f2e01000002_016":"OBJECTIVES: Both restless legs syndrome ([RLS], also known as Willis-Ekbom Disease [WED]) and depression are common during pregnancy. ","530cf4c54a5037880c000008_006":"Ibrutinib acts by inhibiting the Bruton's tyrosine kinase (BTK) while idelalisib represents a first-in-class specific inhibitor of the phosphoinositol-3 kinase (PI3K) delta isoform. ","5506c3e38e1671127b00000a_002":"The plasma membrane Na(+)\/Ca(2+) exchanger (NCX) is a bidirectional ion transporter that couples the translocation of Na(+) in one direction with that of Ca(2+) in the opposite direction. This system contributes to the regulation of intracellular Ca(2+) concentration via the forward mode (Ca(2+) efflux) or the reverse mode (Ca(2+) influx).","58a6db8660087bc10a00002c_011":"In Saccharomyces cerevisiae, deposition of histone H2AZ is mediated by the multiprotein SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ. ","5324a8ac9b2d7acc7e000018_011":"Philadelphia chromosome and\/or BCR-ABL positive, received first-line treatment with imatinib","5a871a6861bb38fb24000009_001":"investigational ALK inhibitor brigatinib is active in patients with ALK-rearranged non-small cell lung cancer.","58cbb98c02b8c60953000034_006":"Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified.","5a6a3464b750ff4455000026_007":"Experimental results, using real and synthetic data, show that MARS improves the alignments, with respect to standard genetic measures and the inferred maximum-likelihood-based phylogenies, and outperforms state-of-the-art methods both in terms of accuracy and efficiency.","55242d512c8b63434a000006_024":"Visualisation of loss of 5-HT2A receptors with age in healthy volunteers using [18F]altanserin and positron emission tomographic imaging.","5a896c26fcd1d6a10c000007_007":"Ribosomal protein S19 (RPS19), currently the only gene associated with DBA, is mutated in 25% of DBA patients, but its role in erythropoiesis is unknown.","5506c3e38e1671127b00000a_017":"The Na(+)\/Ca(2+) exchanger (NCX) plays a role in the regulation of intracellular Ca(2+) levels, and nitric oxide (NO) is involved in many pathological conditions including neurodegenerative disorders. We have previously found that sodium nitroprusside (SNP), an NO donor, causes apoptotic-like cell death in cultured glial cells via NCX-mediated pathways and the mechanism for NO-induced cytotoxicity is cell type-dependent. The present study examined using the specific NCX inhibitor 2-[4-[(2,5-difluorophenyl)methoxy]phenoxy]-5-ethoxyaniline (SEA0400) whether NCX is involved in NO-induced injury in cultured neuronal cells.","5891b125621ea6ff7e00000e_005":"Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-na\u00efve patients with Gaucher disease.","54f9b74306d9727f76000004_020":"The cardioprotective effects of a new 1,4-benzothiazepine derivative, JTV519, on ischemia\/reperfusion-induced Ca2+ overload in isolated rat hearts.","54cb9c94f693c3b16b000005_021":"The ablation of a muscle-specific sarcoplasmic reticulum Ca2+ ATPase (SERCA2a) inhibitor, phospholamban, rescued the spectrum of phenotypes that resemble human heart failure.","587e1bfdfc7e8dd84f000002_005":"GBshape: a genome browser database for DNA shape annotations.","55200c606b348bb82c000013_025":"Discovery of betrixaban (PRT054021), N-(5-chloropyridin-2-yl)-2-(4-(N,N-dimethylcarbamimidoyl)benzamido)-5-methoxybenzamide, a highly potent, selective, and orally efficacious factor Xa inhibitor.","5a679e8cb750ff4455000006_013":"Applying the Milwaukee protocol to treat canine rabies in Equatorial Guinea.","5a679e8cb750ff4455000006_005":"Therapies suggested in the Milwaukee protocol include therapeutic coma, ketamine infusion, amantadine, and the screening\/prophylaxis\/management of cerebral vasospasm. None of these therapies can be substantiated in rabies or other forms of acute viral encephalitis.","530cefaaad0bf1360c00000d_007":"In this report we describe an infant with WBS and congenital hypothyroidism, due to an important thyroid hypoplasia. The patient, a 1-month-old female, negative at primary neonatal thyroid screening, was referred to our hospital for dyspnea. Thyroid function tests showed a raised TSH (42 mIU\/l; normal range 0.5-4 mIU\/l) with a low FT(4) concentration (10.21 pmol\/l; normal range: 10.29-24.45 pmol\/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas (99m)Tc-pertechnetate thyroid scintigraphy evidenced a thyroid gland in normal position, with reduced shape and overall weak fixation. ","56d85e7751531f7e33000001_005":"Heme is critical for a variety of cellular processes, but excess intracellular heme may result in oxidative stress and membrane injury. Feline leukemia virus subgroup C receptor (FLVCR1), a member of the SLC49 family of four paralogous genes, is a cell surface heme exporter, essential for erythropoiesis and systemic iron homeostasis.","56bc77a3ac7ad10019000015_005":"INTERPRETATION: RTS,S\/AS01 prevented a substantial number of cases of clinical malaria over a 3-4 year period in young infants and children when administered with or without a booster dose. ","52c7275103868f1b0600001c_005":"The familial cases, the equal number of affected males and females, and the increased paternal age in sporadic cases strongly suggest autosomal dominant inheritance. ","530cf4e0c8a0b4a00c000006_006":"Hypertrophic cardiomyopathy is regarded as the most common cause of sudden cardiac death in young people (including trained athletes).","56bc77a3ac7ad10019000015_022":"Development of standardized laboratory methods and quality processes for a phase III study of the RTS, S\/AS01 candidate malaria vaccine.","5324a8ac9b2d7acc7e000018_009":"Imatinib mesylate, an orally available BCR-ABL kinase inhibitor","56f7c15a09dd18d46b000012_003":"We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. ","56ed03862ac5ed1459000004_016":"Ubiquitin-activating enzyme (UAE or E1) activates ubiquitin via an adenylate intermediate and catalyzes its transfer to a ubiquitin-conjugating enzyme (E2). MLN4924 is an adenosine sulfamate analogue that was identified as a selective, mechanism-based inhibitor of NEDD8-activating enzyme (NAE), another E1 enzyme, by forming a NEDD8-MLN4924 adduct that tightly binds at the active site of NAE, a novel mechanism termed substrate-assisted inhibition (Brownell, J.","58cbb98c02b8c60953000034_064":"Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes.The intra-melanosomal domain of human tyrosinase (residues 19-469) and two OCA1B related temperature-sensitive mutants, R422Q and R422W were expressed in insect cells and produced in T. ni larvae.","58a2e5f760087bc10a000007_017":"The protein alpha-synuclein (AS) is the primary fibrillar component of Lewy bodies, the pathological hallmark of Parkinson's disease.","55180ef46487737b43000006_002":"Dermatitis herpetiformis is an autoimmune blistering disease that appears as a cutaneous manifestation of gluten intolerance. ","55200c606b348bb82c000013_017":"A randomized evaluation of betrixaban, an oral factor Xa inhibitor, for prevention of thromboembolic events after total knee replacement (EXPERT).","5324a8ac9b2d7acc7e000018_051":"CML) is a clonal hematopoietic disorder caused by the reciprocal translocation between chromosome 9 and 22. As a result of this translocation, a novel fusion gene, BCR-ABL, is created on Philadelphia (Ph) chromosome, and the constitutive activity of the BCR-ABL protein tyrosine kinase plays a critical role in the disease pathogenesis. Imatinib mesylate, a selective BCR-ABL tyrosine kinase inhibitor","5a4df811966455904c00000e_008":"Highly purified yeast RNA polymerase II is able to perform transcript hydrolysis in the absence of TFIIS.","58b6978822d300530900000a_001":"One major hallmark of Alzheimer's disease (AD) is the massive loss of synapses that occurs at an early clinical stage of the disease. In this study, we characterize alterations in spine density and the expression of synapse-associated immediate early gene Arc (activity-regulated cytoskeleton-associated protein) in the hippocampal CA1 regions of two different amyloid precursor protein (APP) transgenic mouse lines before plaque development and their connection to performance in hippocampus-dependent memory tests. The density of mushroom-type spines was reduced by 34% in the basal dendrites proximal to the soma of CA1 pyramidal neurons in 5.5-month-old Tg2576 mice, carrying the Swedish mutation, compared with wild-type littermates. A similar reduction of 42% was confirmed in the same region of 8-month-old APP\/Lo mice, carrying the London mutation.","589a246078275d0c4a00002a_006":"Using data from pivotal studies of DMF (DEFINE, NCT00420212; CONFIRM, NCT00451451), fingolimod (FREEDOMS, NCT00289978; FREEDOMS II, NCT00355134), and teriflunomide (TEMSO, NCT00134563; TOWER, NCT00751881), we calculated NNTs to prevent any relapse, more severe relapses (such as those leading to hospitalization or requiring intravenous corticosteroids), and disability worsening.","55421ee7ccca0ce74b000002_024":"The p53 gene is involved in genome stability and thus is referred to as \"the guardian of the genome.","5ac3699f0340b9f058000001_001":" Recent comparative studies have begun to investigate the evolution of the sequence architecture within enhancers.","589480b47d9090f353000007_006":"Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results. webSDA currently has three modules: SDA docking to generate structures of the diffusional encounter complexes of two macromolecules, SDA association to calculate bimolecular diffusional association rate constants, and SDA multiple molecules to simulate the diffusive motion of hundreds of macromolecules.","54fc99f36ad7dcbc12000004_001":"Bilateral globus pallidus internus (GPi) DBS was performed in five SD patients and unilateral ventralis oralis anterior and posterior (Voa\/Vop) nucleus of the thalamus DBS in two post-stroke hemiballismus patients. ","5a7237672dc08e987e000008_005":"We also discuss reversal strategies, both specific and nonspecific, for each drug, including the preferential use of idarucizumab for the reversal of dabigatran and two agents, andexanet and ciraparantag, currently under development for the reversal of rivaroxaban, apixaban, and edoxaban.","531464a6e3eabad021000014_054":"he XK gene had a point mutation in the donor splice site of intron 1 (G>C). ","54e0d1491388e8454a000014_008":"Four classes of newer lipid-lowering drugs offer promising advances in treating FH, namely the apolipoprotein-B synthesis inhibitors (mipomersen), the microsomal transfer protein inhibitors (lomitapide), the cholesterol ester transfer protein inhibitors (anacetrapib, evacetrapib) and the proprotein convertase subtilisin\/kexin type 9 inhibitors (evolocumab, alirocumab).","5a6900ebb750ff445500001d_007":"PURPOSE Finkelstein's test is the classic diagnostic test for de Quervain's disease.","571f5c150fd6f91b68000009_001":"It is generally accepted that Friedreich's ataxia (FRDA) is caused by a deficiency in frataxin expression, a mitochondrial protein involved in iron homeostasis, which mainly affects the brain, dorsal root ganglia of the spinal cord, heart and in certain cases the pancreas","58bc8e7a02b8c60953000007_003":"Plantar fasciitis, a chronic degenerative process that causes medial plantar heel pain, is responsible for approximately 1 million physician visits each year","56ae6e650a360a5e4500000e_009":"We report the development of OikoBase (http:\/\/oikoarrays.biology.uiowa.edu\/Oiko\/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates. ","55421ee7ccca0ce74b000002_008":"Tumor suppressor p53 is a genome guardian and important negative regulator of the cell cycle.","55421ee7ccca0ce74b000002_027":"The p53 gene has been referred to as the guardian of the genome because it controls apoptosis and cell cycle arrest.","56c5feb75795f9a73e000006_003":"The commonest CFTR mutation, deltaF508, is found in 74.1% of all CF chromosomes. In the Caucasian CF population, 57.5% are deltaF508 homozygotes but the UK ISC CF population with only 24.7%, has significantly fewer deltaF508 homozygotes patients (95% confidence interval (CI) 0.2-0.4).","589a247078275d0c4a000035_027":"Findings of the randomized phase III study (ANBL0032) led to the approval of dinutuximab for the treatment of children with high-risk neuroblastoma.","54cf7051f693c3b16b000013_006":"MR CLEAN, a multicenter randomized clinical trial of endovascular treatment for acute ischemic stroke in the Netherlands: study protocol for a randomized controlled trial.","54f1e031c409818c32000001_001":"Ecallantide (known as DX-88 previously), a potent and specific inhibitor of plasma kallikrein is an innovative medicinal product. ","5710a592cf1c32585100002a_007":"Transcription initiated from P1 and P2 was activated by both atxA and acpA, and activation appeared to be stimulated by bicarbonate. ","58c9a8fe02b8c6095300002a_001":"Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter.","5519a7d5622b194345000015_005":"Light-harvesting pigment-protein complex of Photosystem II (LHCII) is the largest photosynthetic antenna complex of plants and the most abundant membrane protein in the biosphere.","5717dbfe7de986d80d000001_007":"The change in mitochondrial morphology was caused by downregulation of the expression of Fis1 and Drp1, two proteins regulating mitochondrial fission.","5895bc397d9090f35300000b_003":"BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation\/proton exchanger NHE6. ","530f900ee3eabad021000003_001":"This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. ","5880b073c872c95565000003_043":"New antidotes are being explored, including a mouse monoclonal antibody to dabigatran; andexanet alfa, a potential universal factor Xa inhibitor reversal agent; and a synthetic small molecule (PER977) that may be effective for the reversal of factor Xa inhibitors and direct thrombin inhibitors.","5325fdf0600967d132000001_001":"treatments such as periurethral injection of bulking agents, artificial urinary sphincter (AUS) implantation, and sub-urethral sling positioning. The artificial urethral sphincter has represented, until today, the gold standard but, in the recent years, sling systems have been investigated as minimally invasive alternative options.","54d649843706e89528000009_005":"The poly(ADP-ribose) polymerase inhibitor olaparib","5148691bd24251bc0500002d_006":"Phosphorylation of the M3\/6 dual-specificity phosphatase enhances the activation of JNK by arsenite.","51585b28d24251bc0500008d_017":"We examined the expression of DNMT1 and DNMT3a, representative of a maintenance and de novo methyltransferase respectively, in response to in-vitro depolarization of cortical neurons, using standard techniques such as high potassium (KCl) or the sodium channel agonist veratridine.","58cbb98c02b8c60953000034_016":"Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100).","512d0e635274a5fb07000005_003":"45 cases were collected of non-TB OIs in 43 patients receiving infliximab (n=29), adalimumab (n=10) or etanercept (n=4)","51542e44d24251bc05000081_008":"Mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene in non-small cell lung cancers are associated with increased sensitivity of these cancers to drugs that inhibit EGFR kinase activity such as gefitinib and erlotinib.","5891f9e549702f2e01000002_003":"BACKGROUND: Reported prevalence of restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), varies from country to country, and methodologic inconsistencies limit comparison of data.","55421ee7ccca0ce74b000002_011":"The tumor suppressor p53 is known as a guardian of the genome that mediates the cellular response to environmental stress, leading to cell cycle arrest or cell death.","58f3ca5c70f9fc6f0f00000d_001":"Fusarium graminearum is a broad host pathogen threatening cereal crops in temperate regions around the world. ","5147c8a6d24251bc05000027_012":"Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity.","5324a8ac9b2d7acc7e000018_036":"CML were the discovery of the Philadelphia chromosome in 1960, and of the (9;22) translocation in 1973. There followed definition of the breakpoint cluster region on chromosome 22 in 1984 and the demonstration of the BCR-ABL transcript in CM","5353aedb288f4dae47000006_010":"the X inactivation center (Xic). Xic contains many of the regulatory elements for the mutual interplay of X-inactive specific transcript (Xist","5a761ac3aacfb9cd4c000002_002":"Metastatic extrapleural malignant solitary fibrous tumor presenting with hypoglycemia (Doege-Potter syndrome).","56c8f4615795f9a73e00001a_013":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework.","56c1f02cef6e39474100004c_002":"GV1001 is a 16-amino-acid vaccine peptide derived from the human telomerase reverse transcriptase sequence.","58d8e6818acda3452900000a_007":"Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.","5a7237672dc08e987e000008_020":"Idarucizumab is a monoclonal antibody fragment specifically targeted to dabigatran.","58cbb98c02b8c60953000034_032":"Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC","5881f9b65bf093691f000001_001":"Parasympathetic neurons originate from nerve-associated peripheral glial progenitors.","533be71dfd9a95ea0d000009_003":"We show that the mixed lineage leukemia 1 (MLL1) protein, a histone methyltransferase specific for H3K4","5a86f074faa1ab7d2e00003a_006":"Loss of SMARCB1\/INI1 expression is considered to be a hallmark for childhood chordomas (CCs).","5a4e50b242878bf97d000001_008":"Eukaryotic topoisomerase II (topo II) is the essential decatenase of newly replicated chromosomes and the main relaxase of nucleosomal DNA. ","587f7a69d8d850a152000001_001":"libFLASM: a software library for fixed-length approximate string matching.","56c048acef6e39474100001c_015":"Differences between telomerase activity expression levels or telomere length of CSCs and bulk tumor cells in these cell lines did not correlate with the increased sensitivity of CSCs to imetelstat, suggesting a mechanism of action independent of telomere shortening for the effects of imetelstat on the CSC subpopulations.","514a0a57d24251bc05000051_039":"Flumazenil is safe when administered cautiously, even in patients with coma caused by a mixed overdose of benzodiazepine plus tricyclic antidepressants.","5ace238e0340b9f05800000d_004":"We propose a model where an ancestral human-chimpanzee pericentric inversion and the ancestral chromosome 2 fusion both predisposed and protected the chimpanzee and human genomes, respectively, to the formation of subtelomeric heterochromatin. ","550739cf3b8a5dc045000002_003":"polyadenylation signal AAUAAA","5880b073c872c95565000003_021":"Recent results from phase 3\/4 studies demonstrate efficacy for an antidote to dabigatran (idarucizumab, a monoclonal antibody fragment with specificity for dabigatran) and an antidote to factor Xa inhibitors (andexanet alfa, a recombinant and inactive form of factor Xa that binds inhibitors).","56c048acef6e39474100001c_024":"When breast and pancreatic cancer cell lines were treated with imetelstat in vitro, telomerase activity in the bulk tumor cells and CSC subpopulations were inhibited. ","58bc5e2202b8c60953000002_003":"Missense mutations in ubiquilin 2 (UBQLN2) cause ALS with frontotemporal dementia (ALS-FTD). ","5895bc397d9090f35300000b_018":"The single-gene disorders include Pitt\u2013Hopkins syndrome (TCF4), Christianson syndrome (SLC9A6), Mowat\u2013Wilson syndrome (ZEB2), Kleefstra syndrome (EHMT1), and Rett (MECP2) syndrome.","530cf4c54a5037880c000008_002":"Bruton's tyrosine kinase (BTK) shows constitutive activity in CLL and is the target of irreversible inhibition by ibrutinib, an orally bioavailable kinase inhibitor that has shown outstanding activity in CLL. Early clinical results in CLL with other reversible and irreversible BTK inhibitors have been less promising, however, raising the question of whether BTK kinase activity is an important target of ibrutinib and also in CLL. ","53357193d6d3ac6a34000047_005":"With tofacitinib, the first Janus kinase (JAK) inhibitor has been approved in the USA, as well as in Switzerland and other countries. ","5a690487b750ff445500001f_008":"His septic screen was negative, but he had a positive Monospot test and immunoglobulin G for Epstein-Barr virus.","51631154298dcd4e5100004e_018":"Antitumor activity was seen against multiple myeloma, with 8 of 22 evaluable patients having a complete response (CR) or near-CR, including several with anthracycline-refractory disease, and another 8 having partial responses (PRs). One patient with relapsed\/refractory T-cell non-Hodgkin lymphoma (NHL) achieved a CR, whereas 2 patients each with acute myeloid leukemia and B-cell NHL had PRs. Bortezomib\/PegLD was safely administered in this study with promising antitumor activity, supporting further testing of this regimen.","5a86f074faa1ab7d2e00003a_009":"The diagnosis is all the more challenging that other poorly differentiated cancers lose SMARCB1 expression, such as epithelioid sarcomas (ES), renal medullary carcinomas (RMC) or undifferentiated chordomas (UC).","56b710f276d8bf8d13000003_009":"Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. ","530cefaaad0bf1360c000012_007":"Iron status is poor in regular blood donors, restless legs syndrome is common, and the routine iron supplementation is insufficient. ","58bfd8e902b8c60953000018_014":"Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus.","5a6e42f1b750ff4455000046_006":"FMF is caused by mutations in MEFV gene, which encodes pyrin. ","58eb99f3eda5a57672000009_007":"Do centromeres ensure their early replication by promoting early activation of nearby origins, or have they migrated over evolutionary time to reside in early replicating regions? In Candida albicans, a neocentromere contains an early firing origin, supporting the first hypothesis but not addressing whether the new origin is intrinsically early firing or whether the centromere influences replication time.","511a3573df1ebcce7d000018_001":"Our map specifies the distance between genes to one base pair accuracy, the relative location, and the direction of transcription of all 15 genes.","56bc77a3ac7ad10019000015_007":"Recent phase 3 trials with malaria vaccine candidate RTS,S\/AS01 (RTS,S) in children has demonstrated modest efficacy against clinical and severe malaria.","5895bc397d9090f35300000b_011":"This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome.","58a32edd60087bc10a000012_007":"Contrave(\u00ae) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity, and is used with lifestyle modification.","54ede28094afd61504000003_003":"Features of chromosomal aberrations, hypersensitivity to DNA crosslinking agents, and predisposition to malignancy have suggested a fundamental anomaly of DNA repair in Fanconi anemia.","51585b28d24251bc0500008d_020":"Methylation at the 5-position of DNA cytosine on the vertebrate genomes is accomplished by the combined catalytic actions of three DNA methyltransferases (DNMTs), the de novo enzymes DNMT3A and DNMT3B and the maintenance enzyme DNMT1.","5abd2ce0fcf456587200002a_001":"Out of thousands of bacterial species-level phylotypes inhabiting the human gut, the majority belong to two dominant phyla, the Bacteroidetes and Firmicutes","53357ca0d6d3ac6a3400004b_011":"The oral spleen tyrosine kinase inhibitor fostamatinib attenuates inflammation and atherogenesis in low-density lipoprotein receptor-deficient mice.","571f33bd0fd6f91b68000003_001":"Sotos syndrome is a well-known overgrowth syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. This disorder is caused by mutations or deletions in NSD1 gene","5aae6499fcf456587200000c_003":"Borderline oxacillin-resistant Staphylococcus aureus (BORSA) represents a quite poorly understood and inadequately defined phenotype of methicillin resistance.","5a67ab79b750ff445500000b_004":"The CURB65 score was developed to predict mortality risk in community acquired pneumonia.","56ae6e650a360a5e4500000e_001":"OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica.","551fd9c06b348bb82c000012_017":"DIAGNOSTIC SCALES: The results of an assessment with the Recognition of Stroke in the Emergency Room (ROSIER) scale, the Face Arm Speech Test (FAST) scale and the diagnosis of definite or probable stroke by an emergency department.","56c1f040ef6e394741000055_003":"Diagnosed early as Riedel disease, the high serum IgG4, immunohistopathology and decreased fibrosis with corticosteroid therapy, finally confirm for the first time, the origin of IgG4-RSD fibrosis of the thyroid.","5a68f005b750ff4455000016_021":"These results suggest that individuals with borderline personality disorder benefited equally from dialectical behavior therapy and a well-specified treatment delivered by psychiatrists with expertise in the treatment of borderline personality disorder..","58eb9542eda5a57672000007_024":"Human coilin interacting nuclear ATPase protein (hCINAP) directly interacts with coilin, a marker protein of Cajal Bodies (CBs), nuclear organelles involved in the maturation of small nuclear ribonucleoproteins UsnRNPs and snoRNPs. hCINAP has previously been designated as an adenylate kinase (AK6), but is very atypical as it exhibits unusually broad substrate specificity, structural features characteristic of ATPase\/GTPase proteins (Walker motifs A and B) and also intrinsic ATPase activity.","55149f156a8cde6b72000013_001":"The BCR\/ABL gene fusion, the hallmark of chronic myelogenous leukemia (CML) is generated in 2-10% of patients by a variant Ph translocation involving 9q34, 22q11.2, and one or more additional genomic regions. ","58adc1ff9ef3c34033000006_009":"Gene looping, defined as the interaction of the promoter and the terminator regions of a gene during transcription, requires transcription factor IIB (TFIIB).","550f0e4c6a8cde6b72000003_029":"Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candidate gene as causative of FSHD. However, DUX4 expression is extremely low in FSHD muscle, and there is no DUX4 animal model that mirrors the pathology in human FSHD. Here, we show that the misexpression of very low levels of human DUX4 in zebrafish development recapitulates the phenotypes seen in human FSHD patients.","530cefaaad0bf1360c00000d_018":"Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome.","5a871a6861bb38fb24000009_010":"Chromosomal rearrangements involving the tyrosine kinase anaplastic lymphoma kinase (ALK) occur in a variety of human malignancies including non-small cell lung cancer (NSCLC), anaplastic large cell lymphomas, and inflammatory myofibroblastic tumors.","56bdc79bef6e394741000001_001":"Keratoconus management: long-term stability of topography-guided normalization combined with high-fluence CXL stabilization (the Athens Protocol).","5880e417713cbdfd3d000001_006":"During the latest outbreak of Ebola virus disease in West Africa, monoclonal antibody therapy (e.g., ZMapp) was utilized to treat patients.","514a0a57d24251bc05000051_028":"Flumazenil is a benzodiazepine antagonist that is highly effective in reversing the central nervous system effects of benzodiazepine overdose.","5547a01cf35db75526000005_013":"In a subsequent analysis, we excluded the other Microsporidia from the analysis to look for relationships before the divergence of Microsporidia, and found that 43% of the microsporidial genes scored highest with fungal genes, and a higher mean LPI was found with Fungi than with other kingdoms, suggesting that Microsporidia is closely related to Fungi at the genomic level.","5a86f074faa1ab7d2e00003a_011":"loss of smarcb1 ini1 expression is considered to be a hallmark for childhood chordomas ccs although mutation loss of 22q has strongly established the loss of smarcb1 ini1 in cancers the cause in ccs remains elusive recent studies suggest role of mirnas in regulation of smarcb1 ini1 expressions we examined 5 reported target predicted mirnas to smarcb1 ini1 in smarcb1 ini1 immunonegative and immunopositive cases and found upregulation of mir 671 5p and mir 193a 5p in smarcb1 ini1 immunonegative cases notably these two mirnas were significantly predicted to target tgf \u03b2 signaling suggestive of dysregulation of developmental and osteoblast regulation pathway in ccs overall we suggest mir 671 5p and mir 193a 5p mediated epigenetic mode of smarcb1 ini1 loss and downregulated tgf \u03b2 pathway in ccs.","5a79d0b8faa1ab7d2e00000d_005":"During DNA replication in eukaryotic cells, short single-stranded DNA segments known as Okazaki fragments are first synthesized on the lagging strand.","5343fc1aaeec6fbd07000003_004":"type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene","531464a6e3eabad021000014_047":"It is caused by mutations of the XK gene encoding the XK protein, a putative membrane transport protein of yet unknown function. ","54f9b74306d9727f76000004_014":"A new 1,4-benzothiazepine derivative, JTV519, has a strong protective effect against Ca(2+) overload-induced myocardial injury.","5ace19420340b9f05800000a_053":"In conclusion, no functional variant responsible for brownish red coloration was found in the coding region of MC1R and ASIP in Tibetan pigs..","56f7c15a09dd18d46b000012_004":" genetic alteration of LPIN2 in humans is known to cause Majeed syndrome","589480b47d9090f353000007_010":"webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures.","58e23ec66fddd3e83e000010_003":" European honey bees (Apis mellifera","531464a6e3eabad021000014_024":"The McLeod phenotype is derived from various forms of XK gene defects that result in the absence of XK protein, and is defined hematologically by the absence of Kx antigen, weakening of Kell system antigens, and red cell acanthocytosis. ","58cbb98c02b8c60953000034_021":"Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500).","571e172bbb137a4b0c000002_001":"To review available studies of empagliflozin, a sodium glucose co-transporter-2 (SGLT2) inhibitor approved in 2014 by the European Commission and the United States Food and Drug Administration for the treatment of type 2 diabetes mellitus (T2DM).","5343caffaeec6fbd07000002_003":"Human selenoprotein P (HSelP) is unique protein that contains 10 selenocysteines encoded by 10 inframe UGA","58cbb98c02b8c60953000034_019":"Oculocutaneous albinism type 1 (OCA1), resulting from mutations of the tyrosinase gene, is genetically and biochemically the best understood type of albinism.","56afe6d40a360a5e45000017_001":"CAGEr: precise TSS data retrieval and high-resolution promoterome mining for integrative analyses.","56bc77a3ac7ad10019000015_015":"The RTS,S\/AS01(E) malaria candidate vaccine is being developed for immunization of African infants through the Expanded Program of Immunization (EPI)","56ed0ffe2ac5ed1459000008_002":"These findings have informed the subsequent clinical development of ixazomib in multiple myeloma.","5506c3e38e1671127b00000a_045":"The effects of 2-[4-[(2,5-difluorophenyl) methoxy]phenoxy]-5-ethoxyaniline (SEA0400), a newly synthesized Na(+)-Ca(2+) exchanger (NCX) inhibitor, on the NCX current and other membrane currents were examined in isolated guinea-pig ventricular myocytes and compared with those of 2-[2-[4-(4-nitrobenzyloxy) phenyl]ethyl]isothiourea (KB-R7943). SEA0400 concentration-dependently inhibited the NCX current with a 10 fold higher potency than that of KB-R7943; 1 microM SEA0400 and 10 microM KB-R7943 inhibited the NCX current by more than 80%. KB-R7943, at 10 microM, inhibited the sodium current, L-type calcium current, delayed rectifier potassium current and inwardly rectifying potassium current by more than 50%, but SEA0400 (1 microM) had no significant effect on these currents.","5506c3e38e1671127b00000a_024":"The sodium-calcium exchanger (NCX) is one of the transporters contributing to the control of intracellular calcium (Ca(2+)) concentration by normally mediating net Ca(2+) efflux. However, the reverse mode of the NCX can cause intracellular Ca(2+) concentration overload, which exacerbates the myocardial tissue injury resulting from ischemia. Although the NCX inhibitor SEA0400 has been shown to therapeutically reduce myocardial injury, no in vivo technique exists to monitor intracellular Ca(2+) fluctuations produced by this drug.","551c23bc6b348bb82c00000b_009":"FIPA, an autosomal-dominant disease with variable penetrance, is explained in 20% of patients by germline mutations in the tumor suppressor aryl hydrocarbon receptor interacting protein(AIP), while no gene abnormality has been identified to date in the majority of the FIPA families","5a79d0b8faa1ab7d2e00000d_002":"At DNA replication forks, the overall growth of the antiparallel two daughter DNA chains appears to occur 5'-to-3' direction in the leading-strand and 3'-to-5' direction in the lagging-strand using enzyme system only able to elongate 5'-to-3' direction, and I describe in this review how we have analyzed and proved the lagging strand multistep synthesis reactions, called Discontinuous Replication Mechanism, which involve short RNA primer synthesis, primer-dependent short DNA chains (Okazaki fragments) synthesis, primer removal from the Okazaki fragments and gap filling between Okazaki fragments by RNase H and DNA polymerase I, and long lagging strand formation by joining between Okazaki fragments with DNA ligase.","54d8ea2c4b1fd0d33c000002_005":"Atrial fibrillation (AF) is the most prevalent sustained cardiac arrhythmia in clinical practice associated with significant morbidity and mortality","55054f8af73303d458000002_011":"The developed strategy permitted unprecedented biochemical analyses of bone-matrix proteins, including collagen modifications, using nearly nanoscale amounts of exceptionally homogenous bone tissue. ","54cb9c94f693c3b16b000005_020":"SERCA2a activity is regulated by phosphorylation of another SR protein: Phospholamban (PLN). Dephosphorylated PLN inhibits SERCA2a. Phosphorylation of PLN by either cAMP or cGMP-dependent protein kinase at Ser16 or the Ca2+-calmodulin-dependent protein kinase (CaMKII), at Thr17, relieves this inhibition, increasing SR Ca2+ uptake and SR Ca2+ load.","5a896c26fcd1d6a10c000007_012":"The gene encoding the small subunit ribosomal protein 19 (RPS19) is mutated in about 25% of cases of the bone marrow failure syndrome Diamond Blackfan Anemia (DBA), a childhood disease characterized by failure of red cell production.","58861d413b87a8a738000002_025":"Evaluation of PTSD symptoms using the Davidson Trauma Scale (DTS) and General Health Questionnaire (GHQ) in a sample of 56 patients admitted to an emergency room of a general hospital, and assessment of PTSD symptoms in relatives of the patients.","5a7877c0faa1ab7d2e00000c_011":" Generally, oral corticosteroids are considered the first-line treatment for symptomatic patients with pulmonary sarcoidosis.","56bb68f9ac7ad1001900000b_004":"Phthiriasis palpebrarum is an uncommon cause of blepharoconjunctivitis in which Pthirus pubis infest the eyelashes. We report a case of unilateral phthiriasis palpebrarum with crab louse.","58a32efe60087bc10a000013_034":"Multicenter evaluation of the Cepheid Xpert methicillin-resistant Staphylococcus aureus (MRSA) test as a rapid screening method for detection of MRSA in nares.","58853922e56acf5176000016_002":"Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis","55200c606b348bb82c000013_029":"Betrixaban is a new direct factor Xa inhibitor with distinct pharmacological characteristics, including a long half-life, minimal renal clearance and minimal hepatic metabolism","587e2300fc7e8dd84f000004_008":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier","5540b9800083d1bf0e000002_009":"The spectrin heterodimer is formed by the antiparallel lateral association of an alpha and a beta subunit, each of which comprises largely a series of homologous triple-helical motifs.","54df695b1388e8454a000004_012":"X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay. ","58a32efe60087bc10a000013_006":"The aim of this study was to assess to what extent patients with meticillin-resistant Staphylococcus aureus (MRSA) at respiratory sites shed viable MRSA into the air of hospital rooms.","5a7346662dc08e987e00001a_005":"puffy hand syndrome is an unrecognized complication of intravenous drug abuse this painless syndrome appears during or after a long period of drug addiction it involves the hands and sometimes the forearms and may cause functional aesthetic and social disturbances when the hand volume is important physiopathological mechanisms of the puffy hand syndrome are unclear and include venous and lymphatic insufficiencies infectious complications and direct toxicity of injected drugs and their adulterants low stretch bandage and elastic garment usually used in lymphedema treatment are proposed to treat the puffy hand syndrome.","5896271178275d0c4a000004_001":"Lucinactant for the prevention of respiratory distress syndrome in premature infants.","5547a01cf35db75526000005_014":"In a subsequent analysis, we excluded the other Microsporidia from the analysis to look for relationships before the divergence of Microsporidia, and found that 43% of the microsporidial genes scored highest with fungal genes, and a higher mean LPI was found with Fungi than with other kingdoms, suggesting that Microsporidia is closely related to Fungi at the genomic level.","572096c90fd6f91b6800000e_018":"Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene.","589a246078275d0c4a00002a_036":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.","58d8e6818acda3452900000a_017":"Marfan syndrome type 1 (MFS1) is caused by mutations in the FBN1 gene.","590c74d170f9fc6f0f00001e_005":"Ecm22 and Upc2 positively control the expression of FHN1, NPR1, PRR2 and sterol biosynthesis genes.","588f9950ed9bbee70d000002_006":"Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment.","5324a8ac9b2d7acc7e000018_025":"CML is induced by the BCR-ABL oncogene, whose gene product is a BCR-ABL tyrosine kinase. Currently, inhibition of BCR-ABL kinase activity by its kinase inhibitor such as imatinib mesylate (Gleevec)","5ace19420340b9f05800000a_011":"Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype.","5a896c26fcd1d6a10c000007_017":"By applying EMSA and ChIP methodologies in mouse erythroleukemia cells we show that GATA1 and PU.1 bind in vitro and in vivo the proximal promoter region of the RPS19 gene which is frequently mutated in Diamond-Blackfan Anemia.","58a57f9460087bc10a00001f_034":"On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. ","54edf81f94afd61504000014_008":"Finally, we demonstrated co-localization in the nucleus between transfected FANCA and BRG1","532dcfc9d6d3ac6a34000021_009":"multiple methylations catalyzed by SET domain protein methyltransferases","5540ca8a0083d1bf0e000003_006":"In the subventricular zone, this effect was exerted selectively on a precursor subpopulation expressing nestin but not neuronal or glial cell-specific proteins.","51631154298dcd4e5100004e_002":"Bortezomib, a proteasome inhibitor drug very effective against multiple myeloma, may induce the so-called bortezomib-induced peripheral neuropathy (BIPN), hardly manageable with common analgesic drugs.","5ace12be0340b9f058000007_014":"CONCLUSIONS Our results reveal novel regulatory functions of the human FOXP2 3' UTR sequence and regulatory interactions between multiple miRNAs and the human FOXP2 gene.","52fa6ac72059c6d71c000055_014":"transcriptional repressor Bach1","5314bd7ddae131f847000006_011":"Donohue syndrome describes the clinical consequences of the most severe genetic loss of insulin receptor function.","56cdf5195795f9a73e000045_008":"To verify these observations, we examined whether another Hsp90 inhibitor radicicol (RA) affected P-bodies and stress granules. Treatment with RA reduced the level of the Hsp90 client protein Argonaute 2 and the number of P-bodies.","5a774fdcfaa1ab7d2e000008_023":"Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1.","58f4b25e70f9fc6f0f000011_009":"Hy's law is a method used to identify drug-induced liver injury (DILI)","58d8e6818acda3452900000a_046":"Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission.","58e9e7aa3e8b6dc87c00000d_019":"While several ADAR enzymes are present in mice, the presence of a single ADAR in Drosophila, combined with the diverse genetic toolkit available to researchers and the wide range of ADAR target mRNAs identified to date, make Drosophila an ideal organism to study the genetic basis of A-to-I RNA editing.","5a67b2f7b750ff445500000f_001":"STUDY DESIGN: 141 women who agreed to undergo midurethral sling operations due to stress urinary incontinence with hypermobile urethra were enrolled in this non-randomized prospective observational study. Preoperatively, urethral mobility was measured by Q tip test.","56c048acef6e39474100001c_021":"Telomerase antagonist imetelstat inhibits esophageal cancer cell growth and increases radiation-induced DNA breaks.","58a57f9460087bc10a00001f_019":"Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).","5a742d620384be9551000002_007":"This study aims: (1) to identify patients with multiple sclerosis (MS) who are at high risk for obstructive sleep apnea (OSA) by utilizing the STOP-BANG questionnaire and (2) to evaluate the relationship between OSA risk as determined by the STOP-BANG questionnaire and self-reported sleepiness and fatigue using the Epworth Sleepiness Scale (ESS) and the Fatigue Severity Scale (FSS), respectively.","54fc99f36ad7dcbc12000004_002":"We describe a patient who received bilateral globus pallidus internus DBS for dystonia with initially good clinical response, but the device eventually failed. ","5343fc1aaeec6fbd07000003_028":"type 1 (NF1) is an autosomal dominant genetic disorder affecting one in 3,500 individuals. The mutation rate in the NF1 gene is one of the highest known for human genes.","5880aef4c872c95565000001_025":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. Daratumumab induced potent Ab-dependent cellular cytotoxicity in CD38-expressing lymphoma- and MM-derived cell lines as well as in patient MM cells, both with autologous and allogeneic effector cells.","51404dd723fec90375000002_002":"The DNA (cytosine-5)-methyltransferase (m5C-MTase) M.BspRI is able to accept the methyl group from the methyl donor S-adenosyl-L-methionine (AdoMet) in the absence of DNA. Transfer of the methyl group to the enzyme is a slow reaction relative to DNA methylation. S","587e07023ec846c24f000001_003":"PHYLUCE is a software package for the analysis of conserved genomic loci.","5890e163621ea6ff7e000004_009":"In this randomized, double-blind, placebo controlled phase 2 study we investigated tanezumab, a humanized monoclonal antibody that specifically inhibits nerve growth factor as a treatment for interstitial cystitis pain.Patients with interstitial cystitis received a single intravenous dose of 200 \u03bcg\/kg tanezumab or placebo","5880aef4c872c95565000001_026":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. Daratumumab induced potent Ab-dependent cellular cytotoxicity in CD38-expressing lymphoma- and MM-derived cell lines as well as in patient MM cells, both with autologous and allogeneic effector cells. Daratumumab stood out from other CD38 mAbs in its strong ability to induce complement-dependent cytotoxicity in patient MM cells.","550f0e4c6a8cde6b72000003_019":" Aberrant expression of DUX4 from the last unit of the D4Z4 array has been proposed to be the cause of FSHD. ","5891f9e549702f2e01000002_023":"Psychological distress in patients with restless legs syndrome (Willis-Ekbom disease): a population-based door-to-door survey in rural Ecuador.","56bb68f9ac7ad1001900000b_003":"Phthiriasis palpebrarum is an infestation of the eyelashes caused by the louse Pthirus pubis (Linnaeus, 1758). ","5a6fa31ab750ff445500005e_003":"We devised a machine learning approach, McEnhancer, which links target genes to putative enhancers via a semi-supervised learning algorithm that predicts gene expression patterns based on enriched sequence features.","5540b9800083d1bf0e000002_012":"The basic unit of spectrin is an antiparallel heterodimer composed of two homologous chains, beta and alpha","5891f9e549702f2e01000002_005":"There is no consensus about mechanisms underlying restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED)","58bca2f302b8c6095300000c_010":" To identify the origin and study the morphology of small supernumerary marker chromosome (sSMC) in Turner syndrome with 45, X\/46, X, + mar karyotype.","587e3129c32c812009000002_001":"traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals","58eb9542eda5a57672000007_012":"Coilin is another nuclear SMN binding partner and a marker protein for Cajal bodies (CBs).","58f4b25e70f9fc6f0f000011_011":"Severe liver injury is identified by the liver chemistry threshold of alanine aminotransferase (ALT)>3\u00d7 upper limit of normal (ULN) and bilirubin>2\u00d7 ULN, termed Hy's law by the Food and Drug Administration. ","5a7617b183b0d9ea66000022_004":"BACKGROUND: Rilotumumab is a fully human monoclonal antibody that selectively targets the ligand of the MET receptor, hepatocyte growth factor (HGF). ","56d1f790f22319765a000001_007":"Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M.","588f9950ed9bbee70d000002_007":"Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome.","56ae6e650a360a5e4500000e_006":"We report the development of OikoBase (http:\/\/oikoarrays.biology.uiowa.edu\/Oiko\/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates.","53357ca0d6d3ac6a3400004b_009":"More recently, several KIs have been developed to target the proximal B-cell receptor (BCR) signaling pathway including spleen tyrosine kinase inhibitor (Fostamatinib) and Bruton's tyrosine kinase inhibitors (Ibrutinib, AVL-263). ","571f33bd0fd6f91b68000003_014":"There are two types of mutations that cause NSD1 haploinsufficiency: mutations within the NSD1 gene (mutation type) and a 5q35 submicroscopic deletion encompassing the entire NSD1 gene (deletion type). ","58c27b7102b8c60953000021_003":"Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes.","5545186cbf90a13052000002_001":"Transcription-coupled repair (TCR) is the major pathway involved in the removal of UV-induced photolesions from the transcribed strand of active genes.","514a0a57d24251bc05000051_011":"Flumazenil is a specific and competitive antagonist at the central benzodiazepine receptor, reversing all effects of benzodiazepine agonists without tranquillising or anticonvulsant actions.","530f900ee3eabad021000003_005":"Our results show the difficulty of distinguishing AHDS from patients with X-linked intellectual disability solely on the basis of clinical features and biochemical tests, and we advise screening for MCT8 mutations in either young or older patients with severe intellectual disability, axial hypotonia\/dystonia, poor head control, spastic paraplegia, and athetoid movements even when they have normal thyroid hormone profiles.","52f509512059c6d71c000020_002":"From 1993, the Short QT Syndrome (SQTS) came to our attention, as a new inherited \"electrical disease\" associated with increased risk of sudden cardiac death and atrial fibrillation. Mutations of Ikr, Iks, Ikl channels cause dysfunctional Iks, Ikr, Ikl channels with an increase in the net outward K current leading to shortening of repolarization. This in turn leads to a shorter QT interval on the ECG and shorter atrial and ventricular refractory periods with increased susceptibility to VF and AF. There seems to be an autosomal dominant mode of inheritance.","5880b812c872c95565000006_004":"Efficacy trials with a dapivirine-containing vaginal ring for HIV prevention are ongoing and plans to develop multi-purpose vaginal rings for prevention of both HIV and pregnancy have been elaborated.","514a0a57d24251bc05000051_004":"Flumazenil is used infrequently in the management of BZD OD in the UK.","589d965a78275d0c4a000049_011":"Treatment of cells overexpressing NF90 and NF45 with an RNA polymerase II inhibitor, alpha-amanitin, did not reduce the amounts of pri-miRNAs, suggesting that the accumulation of pri-miRNAs is not due to transcriptional activation.","55475dc2f35db75526000001_006":"Botulism is a neuroparalytic disease that can occur in all warm-blooded animals, birds, and fishes. The disease in animals is mainly caused by toxins produced by Clostridium botulinum strains belonging to group III, although outbreaks due to toxins produced by group I and II organisms have been recognized.","58a32efe60087bc10a000013_039":"Long-term control of endemic hospital-wide methicillin-resistant Staphylococcus aureus (MRSA): the impact of targeted active surveillance for MRSA in patients and healthcare workers.","512d0e635274a5fb07000005_001":"higher rates are observed with anti-TNF Abs (e.g., infliximab) as compared with TNF receptor fusion protein (etanercept).","5545186cbf90a13052000002_018":"The blockage of transcription elongation by RNA polymerase II (pol II) at a DNA damage site on the transcribed strand triggers a transcription-coupled DNA repair (TCR), which rapidly removes DNA damage on the transcribed strand of the expressed gene and allows the resumption of transcription.","56c048acef6e39474100001c_008":"The activity of imetelstat as a single agent suggests that further studies of telomerase inhibitors in combination with other agents may be warranted.","531464a6e3eabad021000014_004":"We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. ","58cbb98c02b8c60953000034_060":"Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.","55421ee7ccca0ce74b000002_035":"The p53 tumor suppressor protein is often referred to as the \"guardian of the genome\" since its response to DNA-damage or checkpoint failure gives rise to a series of anti-proliferative responses","514a0a57d24251bc05000051_010":"A 54-y-old man ingested 2 g of bulk laboratory diazepam and was treated with activated charcoal, enhanced diuresis and flumazenil infusion.","530cf4c54a5037880c000008_015":"Ibrutinib (PCI-32765), demonstrated that Btk inhibition sensitizes CLL cells to apoptosis and alters their migratory behavior, these studies however did not address whether Btk-mediated signaling is involved in the process of CLL leukemogenesis. ","5a8941c5bc7bade53a000002_001":" pCREB(Ser133) as a model system","554148c23f2354b713000001_004":"A database, named LepChorionDB, was constructed by searching 5 different protein databases using class A and B central domain-specific profile Hidden Markov Models (pHMMs), developed in this work. A total of 413 Lepidopteran chorion proteins from 9 moths and 1 butterfly species were retrieved. These data were enriched and organised in order to populate LepChorionDB, the first relational database, available on the web, containing Lepidopteran chorion proteins grouped in A and B classes. LepChorionDB may provide insights in future functional and evolutionary studies of Lepidopteran chorion proteins and thus, it will be a useful tool for the Lepidopteran scientific community and Lepidopteran genome annotators, since it also provides access to the two pHMMs developed in this work, which may be used to discriminate A and B class chorion proteins","52eea4dcc8da89891000000c_001":"Jervell and Lange-Nielsen syndrome (JLNS) is characterized by sensorineural deafness, QT prolongation, abnormal T waves, ventricular tachyarrhythmias, and autosomal recessive inheritance.","589a247078275d0c4a000035_002":"Dinutuximab: A Review in High-Risk Neuroblastoma.","5880dba9c872c95565000009_003":"The combination of antiestrogen therapy and ribociclib, an investigational CDK4\/6 inhibitor, led to improved outcomes in women with metastatic HR-positive, HER2-negative breast cancer, according to findings presented at a meeting of the European Society for Medical Oncology. ","5148691bd24251bc0500002d_010":"M3\/6 (DUSP8) is a dual-specificity phosphatase implicated in the dephosphorylation and inactivation of JNK and, to a lesser extent, p38 MAPKs and is found in a complex with these kinases, along with other pathway components, held together by scaffold proteins.","5a68f448b750ff4455000018_011":"erythrasma is a skin infection which is caused by corynebacterium minutissimum interdigital erythrasma is the most common form the aim of this study was to detect the frequency and risk factors of interdigital erythrasma in patients with clinically suspected tinea pedis this study was conducted between june and december 2010 and included 122 patients who had interdigital foot lesions all patients were examined using a wood s lamp the smears were stained using gram s method direct examination was performed using 20 potassium hydroxide sabouraud dextrose agar and brain heart infusion agar were used for cultures moreover the demographical characteristics of patients concomitant diseases and clinical findings were also recorded cases that were found to be positive on wood s lamp examination and or gram staining culture were considered as erythrasma the rate of erythrasma was found to be 46 7 the mean age was 43 6 years and the disease was more prevalent in men the most common clinical finding was desquamation mycological examination was found as positive in 40 35 of the patients no growth was observed in bacteriological cultures it was found that using only wood s lamp examination or gram staining resulted in 11 9 and 19 positive patients 15 6 respectively whereas using both wood s lamp examination and gram staining concurrently resulted in 27 positive patients 22 1 interdigital erythrasma is a commonly seen condition and can clinically mimic tinea pedis a wood s lamp is a good diagnostic tool but gram staining particularly in those with a negative wood s lamp result may be a useful method.","5891c90949702f2e01000001_001":"INCA: synonymous codon usage analysis and clustering by means of self-organizing map.","51631154298dcd4e5100004e_001":"patients with multiple myeloma (MM)","589635dd78275d0c4a000009_006":"LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations","58a2e5f760087bc10a000007_003":"The primary structural component of Lewy bodies are fibrils composed primarily of alpha-synuclein, a highly conserved 140 amino acid protein that is predominantly expressed in neurons and which may play a role in synaptic plasticity and neurotransmission.","58a2e5f760087bc10a000007_001":"Aggregation of \u03b1-synuclein (\u03b1Syn), the primary protein component in Lewy body inclusions of patients with Parkinson's disease, arises when the normally soluble intrinsically disordered protein converts to amyloid fibrils. ","55032efde9bde69634000035_021":"Telcagepant (MK-0974) is a novel oral calcitonin gene-related peptide (CGRP) receptor antagonist and is currently under clinical development.","58f4b25e70f9fc6f0f000011_010":"Potential severe liver injury is identified in clinical trials by ALT>3\u2009\u00d7\u2009upper limits of normal (ULN) and total bilirubin>2\u2009\u00d7\u2009ULN, and termed 'Hy's Law' by the US FDA.","54edf81f94afd61504000014_003":"We identified an interaction between the FA protein, FANCA and brm-related gene 1 (BRG1) product. BRG1 is a subunit of the SWI\/SNF complex, which remodels chromatin structure through a DNA-dependent ATPase activity","5a75f6e083b0d9ea66000009_002":"CLIP-Seq protocols such as PAR-CLIP, HITS-CLIP or iCLIP allow a genome-wide analysis of protein-RNA interactions. For the processing of the resulting short read data, various tools are utilized. Some of these tools were specifically developed for CLIP-Seq data, whereas others were designed for the analysis of RNA-Seq data. To this date, however, it has not been assessed which of the available tools are most appropriate for the analysis of CLIP-Seq data. This is because an experimental gold standard dataset on which methods can be accessed and compared, is still not available. To address this lack of a gold-standard dataset, we here present Cseq-Simulator, a simulator for PAR-CLIP, HITS-CLIP and iCLIP-data. This simulator can be applied to generate realistic datasets that can serve as surrogates for experimental gold standard dataset. In this work, we also show how Cseq-Simulator can be used to perform a comparison of steps of typical CLIP-Seq analysis pipelines, such as the read alignment or the peak calling. These comparisons show which tools are useful in different settings and also allow identifying pitfalls in the data analysis.","530cf4c54a5037880c000008_011":"Next, we used this model to study ibrutinib, a Bruton's tyrosine kinase inhibitor in clinical development. ","550f0e4c6a8cde6b72000003_004":"Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat.","58df47f08acda3452900002f_001":" In February 2008, Regeneron received Orphan Drug approval from the Food and Drug Administration for rilonacept in the treatment of two cryopyrin-associated periodic syndromes (CAPS) disorders, namely, familial cold-induced autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS), for children and adults 12 years and older. ","571f33bd0fd6f91b68000003_007":"Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome","550342a8f8aee20f27000002_004":"Herman Doose first described the generalized childhood epilepsy syndrome of myoclonic astatic epilepsy (MAE) in 1970, attributing a genetic cause from this first description. ","56c1f003ef6e394741000039_007":"Suvorexant, a dual orexin receptor antagonist for the management of insomnia.","52bf19c503868f1b06000001_005":"Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive myopathy with autosomal dominant inheritance remarkable for its early involvement of facial musculature.","5147c8a6d24251bc05000027_008":"Globoid-cell leukodystrophy (GLD) is an autosomal recessive inherited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible for the degradation of the myelin glycolipid galactocerebroside.","5891c90949702f2e01000001_018":"Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","5880aef4c872c95565000001_014":"However, we discovered, next to an expected effect of effector (natural killer cells\/monocytes) to target (MM cells) ratio on ADCC, a significant association between CD38 expression and daratumumab-mediated ADCC (127 patients), as well as CDC (56 patients).","530cf4c54a5037880c000008_013":"Ibrutinib, a Bruton's tyrosine kinase inhibitor, has shown highly encouraging results in phase I\/II trials in patients with treatment-naive, relapsed and refractory CLL even in the presence of high risk disease or poor prognostic markers. ","5545186cbf90a13052000002_007":"These results suggest that UV treatment results in an induced repair of UV-damaged DNA in the transcribed strand of an active gene in XP-C and normal cells through an enhancement of TCR or a mechanism which involves the TCR pathway.","56c1f020ef6e394741000047_019":"According to Palmini's classification system, these lesions were categorized as focal cortical dysplasia (FCD) type II.","56cdf3e55795f9a73e00003c_001":"Heterodimeric Rag GTPases are required for amino-acid-mediated mTORC1 activation at the lysosome","58a6db8660087bc10a00002c_015":"The incorporation of H2AZ into chromatin is dependent on the SWR1 complex, which catalyses the replacement of conventional histone H2A with H2AZ.","531464a6e3eabad021000014_041":"With the discovery of their molecular bases, mutations of the X-linked gene XK and autosomal recessive mutations of the gene coding for chorein, respectively, the two phenotypes can now be differentiated and extend the diagnostic spectrum in patients presenting with chorea.","5a67ab79b750ff445500000b_002":"Prognostic performance of MR-pro-adrenomedullin in patients with community acquired pneumonia in the Emergency Department compared to clinical severity scores PSI and CURB.","517818508ed59a060a000035_004":"We identified mutations in the MECP2 gene and documented the clinical manifestations in 65 Rett syndrome patients to characterize the genotype-phenotype spectrum.","56ed03862ac5ed1459000004_001":"Finally, MLN4924, an investigational small molecule inhibitor of NEDD8-activating enzyme (NAE) that inhibits CRL, suppresses in vitro migration, proliferation and tube formation, as well as in vivo angiogenesis and tumorigenesis. ","5a76179d83b0d9ea66000021_005":"Here we introduce a new WGS variant data format implemented in the R\/Bioconductor package 'SeqArray' for storing variant calls in an array-oriented manner which provides the same capabilities as VCF, but with multiple high compression options and data access using high-performance parallel computing.<br><b>Results<\/b>: Benchmarks using 1000 Genomes Phase 3 data show file sizes are 14.0\u2009Gb (VCF), 12.3\u2009Gb (BCF, binary VCF), 3.5\u2009Gb (BGT) and 2.6\u2009Gb (SeqArray) respectively.","58d8e6818acda3452900000a_040":"By WES and filtering with a mining tool, a novel FBN1 missense variant was found in patient 1 and his mother, who both showed clinical features of Marfan syndrome by thorough anthropometric assessment, and a novel EYA1 missense variant as a probable cause of the renal malformation in the patient.","58a2e5f760087bc10a000007_023":"Microtubule-associated protein 1B is a component of cortical Lewy bodies and binds alpha-synuclein filaments.","5148691bd24251bc0500002d_001":"Thus, rosiglitazone's neuroprotective effect after ischemia is mediated by blocking JNK phosphorylation induced by ischemia via DUSP8 upregulation.","58cdb41302b8c60953000042_011":"The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized by tissue fragility, hyperelasticity of the skin and joint hypermobility.","571e40a8bb137a4b0c000009_006":"Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3","5a7237672dc08e987e000008_030":"Idarucizumab, an antibody fragment, was developed to reverse the anticoagulant effects of dabigatran.","5177def18ed59a060a000034_001":"Activating point mutations in the K-Ras oncogene are among the most common genetic alterations in pancreatic cancer, occurring early in the progression of the disease.","58e74bff3e8b6dc87c000004_007":"In total, 12 (27%) of the Japanese Diamond-Blackfan anemia patients had mutations in ribosomal protein genes.","56c04412ef6e39474100001b_014":"such as elotuzumab which targets CS1 and daratumumab which targets CD38.","58d906b28acda3452900000d_001":"Tafazzin (EC 2.3.1.23) is a Phospholipid Transacylase involved in Cardiolipin remodeling on mitochondrial membrane and coded by TAZ gene (Cytogenetic Location: Xq28) in human.","56cdf5195795f9a73e000045_005":"Treatment with RA reduced the level of the Hsp90 client protein Argonaute 2 and the number of P-bodies.","554356d0ed966d112c000005_006":"The average absolute dinucleotide relative abundance difference, termed delta-distance, has been commonly used to measure differences in dinucleotide composition, or 'genomic signature', between bacterial chromosomes and plasmids","5324a8ac9b2d7acc7e000018_004":"Characterized by a translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, small-molecule tyrosine kinase inhibitors (TKIs) targeted against the oncogenic BCR-ABL fusion protein","551fd9c06b348bb82c000012_004":"CONCLUSIONS: The ROSIER is a sensitive and specific stroke recognition tool for health providers' use among Chinese patients in the prehospital setting.","54e1bdacae9738404b000009_007":"Riociguat (Adempas): a novel agent for the treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension","56c1f03bef6e394741000053_002":"Thyroid transcription factor 1 (NKX2-1\/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).","5a79d0b8faa1ab7d2e00000d_008":"FENs (flap endonucleases) play essential roles in DNA replication, pivotally in the resolution of Okazaki fragments. ","530cefaaad0bf1360c000012_023":"Restless leg syndrome (RLS), aging, pregnancy, uraemia, iron deficiency, polyneuropathy are some of the common causes of secondary PLMD.","589d965a78275d0c4a000049_016":"These small RNAs are first transcribed by RNA polymerase II as a primary miRNA (pri-miRNA) transcript, which is then cleaved into the precursor miRNA (pre-miRNA).","5a6fa61ab750ff4455000060_004":"FullSSR simplifies the detection of SSRs and primer design on a big data set.","58aa0c6f396a458e50000008_004":"The oxytocin (OT) hormone pathway is involved in numerous physiological processes, and one of its receptor genes (OXTR) has been implicated in pair bonding behavior in mammalian lineages.","5ace12be0340b9f058000007_006":"Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development.","58a32efe60087bc10a000013_005":"The aim of this study was to assess to what extent patients with meticillin-resistant Staphylococcus aureus (MRSA) at respiratory sites shed viable MRSA into the air of hospital rooms.","5a7428090384be9551000001_005":"BACKGROUND AND AIMS: Determining clinical probability of pulmonary embolism (PE) with Wells scoring system is the first step towards diagnosis of PE.","536e46f27d100faa09000012_003":"affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents","52ee9f55c8da898910000009_005":"Romano-Ward syndrome is a subtype of prolonged QT syndrome with autosomal dominant inheritance. ","5a8b1264fcd1d6a10c00001d_002":"Seventy-four Fusarium oxysporum soil isolates were assayed for known effector genes present in an F. oxysporum f. sp. lycopersici race 3 tomato wilt strain (FOL MN-25) obtained from the same fields in Manatee County","58bfd8e902b8c60953000018_009":"Necrobiosis lipoidica is an inflammatory granulomatous skin disease of unknown etiology which is associated with diabetes mellitus in about 60% of the patients","5a7639419e632bc066000005_001":"DeepLoc: prediction of protein subcellular localization using deep learning.","55421ee7ccca0ce74b000002_007":"The classical functions of p53 protein are those related to its role on DNA damage, cell growth arrest, senescence and apoptosis. For this reason it is called 'the guardian of the genome' and is considered one of the most important players in the development of cancer.","5a7d51dafaa1ab7d2e000017_001":"Intravenous immunoglobulin (IVIG) has shown limited promise so far in human clinical studies on Alzheimer's disease (AD), yet overwhelmingly positive preclinical work in animals and human brain cultures support the notion that the therapy remains potentially efficacious.","5a7346662dc08e987e00001a_003":"Puffy hand syndrome is a complication of intravenous drug abuse, which has no current available treatment.","58a57f9460087bc10a00001f_009":"On the basis of these findings, we conclude that sequencing and copy number analysis of both PAX3 and MITF have to be recommended in the routine molecular diagnostic setting for patients, WS1 and WS2. Furthermore, our genotype-phenotype analyses indicate that WS2 and TS correspond to a clinical spectrum that is influenced by MITF mutation type and position.","571f5c150fd6f91b68000009_006":"Friedreich's ataxia results from a deficiency in the mitochondrial protein frataxin, which carries single point mutations in some patients.","52f21e8f2059c6d71c00000c_001":"We have previously reported an array comparative genomic hybridization profile that identifies triple-negative breast cancers (TNBC), with BRCA1 dysfunction","58d8e6818acda3452900000a_014":"To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.","55180ef46487737b43000006_010":"We report long-term clinical and histological remissions in seven patients with dermatitis herpetiformis after the reintroduction of dietary gluten.","5895f7e978275d0c4a000001_006":"Hypoglycin A, the toxin found in the ackee fruit, has been reported in the literature as the causative agent in incidences of acute toxicity termed Jamaican vomiting sickness or toxic hypoglycemic syndrome.","5895bc397d9090f35300000b_017":"This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome. ","54cb9c94f693c3b16b000005_008":"The sarco(endo)plasmic reticulum (SR) Ca(2+) transport ATPase (SERCA2a) and its inhibitor phospholamban (PLN) control the uptake of Ca(2+) by SR membranes during relaxation. ","531464a6e3eabad021000014_036":"XK gene sequence analysis revealed a missense mutation in exon 3 (E327K). WBC XK RNA levels were not decreased. ","590c74d170f9fc6f0f00001e_007":"The AR1b elements are absolutely required for auto-induction of UPC2 gene expression and protein and require Upc2 and Ecm22 for function.","536e46f27d100faa09000012_001":"mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers","56c1f020ef6e394741000047_022":"Rates of high frequency oscillations in patients with pathologically confirmed focal cortical dysplasia of Palmini type 1a and b were compared with those in type 2a and b. ","532f55fed6d3ac6a34000036_014":"screening of the glucocerebrosidase gene by SSCP analysis revealed an abnormal pattern of exon 10 in two unrelated Italian Gaucher patients","52f89fc62059c6d71c000050_002":"Functional studies in A549 bronchioalveolar carcinoma and NCI-H520 squamous cell carcinoma cells revealed that Msi1 was enriched in spheroid cultures of tumor cells and in the CD133+ cell population. ","5519113b622b19434500000f_016":"Genitourinary anomalies in Mowat-Wilson syndrome with deletion\/mutation in the zinc finger homeo box 1B gene (ZFHX1B).","5890e163621ea6ff7e000004_003":"OBJECTIVE: To investigate whether the effects of nerve growth factor (NGF) inhibition with tanezumab on rats with medial meniscal tear (MMT) effectively model rapidly progressive osteoarthritis (RPOA) observed in clinical trials.","5313058de3eabad02100000e_004":"Lumbosacral transitional vertebra is an anatomical variation of the fifth lumbar vertebra in which an enlarged transverse process can form a joint or fusion with the sacrum or ilium. The association of that variant with low back pain and the change in the biomechanical properties of the lumbar spine is called Bertolotti's syndrome. ","5a6f960fb750ff445500005c_008":"We hypothesize that addition of palatal petechiae to Centor Criteria will increase the possibility of clinical diagnosis of group A streptococcal pharyngitis in children.","531464a6e3eabad021000014_010":"A novel XK splice site mutation (IVS1-1G>A) has been identified in a McLeod patient who has developed hematologic, neuromuscular, and neurologic symptoms. This is the first reported example of a XK point mutation affecting the 3' acceptor splice site of Intron 1, and it was demonstrated that this mutation indeed induces aberrant splicing of XK RNA and lack of XK protein at the RBC membrane.","5547a01cf35db75526000005_011":"The kingdom Fungi is expanded by adding Microsporidia, because of protein sequence evidence that these amitochondrial intracellular parasites are related to conventional Fungi, not Protozoa.","5a761ac3aacfb9cd4c000002_004":"AIM: Doege-Potter syndrome is a rare condition consisting of a mesenchymal tumor, either benign or malignant, accompanied by severe hypoglycemia. ","5710e131a5ed216440000001_004":"To explore the biological significance of this specific chromosomal context, chromosome XII was split at both sides of the rDNA cluster and strains harboring deleted variants of chromosome XII consisting of 450 kb, 1500 kb (rDNA cluster only) and 610 kb were created. In the strain harboring the 1500 kb variant of chromosome XII consisting solely of rDNA, the size of the rDNA cluster was found to decrease as a result of a decrease in rDNA copy number","5a70e4b399e2c3af26000008_004":"BACKGROUND AND OBJECTIVE: Glecaprevir and pibrentasvir are pangenotypic direct-acting antiviral agents for the treatment of chronic hepatitis C virus infection.","530cf4c54a5037880c000008_014":"The compounds that are currently investigated in patients with CLL include ibrutinib -inhibitor of Btk, fostamatinib-inhibitor of Syk and idelalisib (GS-1101) -a specific isoform of the PI3K (PI3K) inhibitor. ","56e0447a51531f7e3300000b_005":"Viroids: petite RNA pathogens with distinguished talents.","58a57f9460087bc10a00001f_013":"In humans, haploinsufficiency of MITF causes Waardenburg syndrome type 2, while a dominant-negative mutation causes Tietz syndrome. ","5519110f622b19434500000c_001":"Marfanoid phenotype with craniosynostosis (Shprintzen-Goldberg syndrome) is a rare disorder previously described in only 5 patients.","52fa6ac72059c6d71c000055_021":"a heme-binding factor, Bach1, is a critical physiological repressor of ho-1","572096c90fd6f91b6800000e_005":"Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease. It is best known for the \"giant\" axons caused by accumulations of intermediate filaments. The disease is progressive, with onset around age 3 years and death by the third decade of life. GAN results from recessive mutations in the GAN gene encoding gigaxonin","532f55fed6d3ac6a34000036_005":"Gaucher disease (GD), the inherited deficiency of glucocerebrosidase","531464a6e3eabad021000014_015":"Molecular genetic analysis revealed a small deletion in the XK gene (938-942delCTCTA), which has been already described in a North American patient of Anglo-Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features.","5895bc397d9090f35300000b_008":"We report on two children with CS and confirmed mutations in SLC9A6 focusing on neuroimaging findings and review the available literature. ","511a3573df1ebcce7d000018_012":"Kallikrein-related peptidases (KLKs) constitute a family of 15 highly conserved serine proteases encoded by the largest uninterrupted cluster of protease-encoding genes within the human genome.","5149f494d24251bc0500004c_006":"Patients who received naloxone for known or presumed opioid overdose were formally evaluated one hour later for multiple potential predictor variables. ","54d73e223706e89528000010_001":"OBJECTIVE: This study evaluates the cost-effectiveness of 5-aminolevulinic acid (5-ALA, Gliolan\u00ae) in patients undergoing surgery for malignant glioma, in standard clinical practice conditions in Spain. ","58a5b1fe60087bc10a000024_004":"The results show that basal SUMO modification is required for stimuli-induced p100 phosphorylation and that blocking SUMOylation of p100, either by site-directed mutation or by short interfering RNA-targeted diminution of E2 SUMO-conjugating enzyme Ubc9, inhibits various physiological stimuli-induced p100 processing and ultimate activation of the alternative NF-kappaB pathway","58d8e6818acda3452900000a_029":"Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders","5a6e42f1b750ff4455000046_003":"The causative mutations for familial Mediterranean fever (FMF) are located in the MEFV gene, which encodes pyrin.","58a32efe60087bc10a000013_027":"Comparison of the BD Max methicillin-resistant Staphylococcus aureus (MRSA) assay and the BD GeneOhm MRSA achromopeptidase assay with direct- and enriched-culture techniques using clinical specimens for detection of MRSA.","533ea8fcc45e133714000010_004":"Selenocysteine Insertion Sequence (SECIS) element in the 3'UTR of the transcript.","54e8c7220fc566b149000002_002":"using proximity ligation assay, we show that the interaction takes place in the cell nucleus.","58adc1ff9ef3c34033000006_006":"Instead, activators physically interacted with the general transcription factor TFIIB when the genes were activated and in a looped configuration. TFIIB cross-linked to both the promoter and the terminator regions during the transcriptionally activated state of a gene. ","531464a6e3eabad021000014_025":"MLS is an X-linked multi-system disorder caused by absence of XK alone, or when the disorder is caused by large deletions, it may be accompanied with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CYBB), retinitis pigmentosa (RPGR), and ornithine transcarbamylase deficiency (OTC). ","56c1f03bef6e394741000053_004":"Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1\/TTF1) mutations. ","5a7237672dc08e987e000008_028":"Idarucizumab, an antibody fragment targeting dabigatran, is the first specific antidote for a NOAC to be approved, but real-world experience is limited.","55200c606b348bb82c000013_004":"Betrixaban is a novel oral factor Xa inhibitor administered once daily, mostly excreted unchanged in the bile and with low (17%) renal excretion. ","52f89fc62059c6d71c000050_008":"The antitumor effect of CGP41251 (4'-N-benzoyl staurosporine), a selective protein kinase C (PKC) inhibitor, was examined on two kinds of human non-small cell lung cancer (NSCLC) cell lines (adenocarcinoma: A549 and squamous cell carcinoma: NCI-H520).","56c04412ef6e39474100001b_004":"BACKGROUND: Daratumumab (DARA), a promising novel therapy for multiple myeloma, is an IgG1\u03ba monoclonal antibody that recognizes CD38 on myeloma cells. ","56bc77a3ac7ad10019000015_003":"Efficacy and safety of RTS,S\/AS01 malaria vaccine with or without a booster dose in infants and children in Africa: final results of a phase 3, individually randomised, controlled trial.","532f55fed6d3ac6a34000036_001":"The glucocerebrosidase gene (GBA), located in a gene-rich region on chromosome 1q 21, is mutated in Gaucher disease","56c04412ef6e39474100001b_006":"Daratumumab, an investigated anti-cancer drug targeting CD38, has been of great interest in the treatment of CD38-expressing malignancies, especially multiple myeloma.","55180ef46487737b43000006_020":"The results confirm the absence of oat toxicity on the gluten sensitive small bowel mucosa and suggest that the rash in patients with dermatitis herpetiformis is not activated by eating oats.","5880aef4c872c95565000001_023":"One of novel fields for anti-MM therapeutic strategy is the development of immunotherapy using monoclonal antibodies (MoAbs) against myeloma-specific antigens. This article focuses on the basic and clinical aspects of several emerging and promising novel MoAbs for MM, such as elotuzumab which targets CS1 and daratumumab which targets CD38. Both antigens are highly expressed in more than 90% of MM patients, and the clinical trials have shown promising anti-MM effects, especially in combination with immunomodulatory agent lenalidomide.","5ace19420340b9f05800000a_001":"Individuals with red hair have a predominance of phaeomelain in hair and skin and\/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from UVR. In mammals the relative proportions of phaeomelanin and eumelanin are regulated by melanocyte stimulating hormone (MSH), which acts via its receptor (MC1R), on melanocytes, to increase the synthesis of eumelanin and the product of the agouti locus which antagonises this action","54db62a3034aea571d000001_003":"SERCA, an endoplasmic reticulum (ER) calcium pump, is solely responsible for transporting cytosolic calcium into the ER lumen.","5a4df811966455904c00000e_013":"Involvement of the vaccinia RNA polymerase subunit rpo30 in the transcript-shortening reaction is suggested based on sequence similarity of rpo30 to mammalian protein SII (TFIIS), an extrinsic transcription factor required for nascent RNA cleavage by RNA polymerase II (Reines, D. (1991) J. Biol.","5ace19420340b9f05800000a_037":"A specific variant of MC1R gene (R allele) is responsible for the red hair.","5518e7da622b194345000004_014":"An in vitro kinase assay revealed that the resultant c-Jun phosphorylation was primarily mediated via activated c-Jun N-terminal protein kinase (JNK).","56c85ed65795f9a73e000012_003":"Dasatinib, a small-molecule protein tyrosine kinase inhibitor, inhibits T-cell activation and proliferation","514a0a57d24251bc05000051_034":"Patients with benzodiazepine overdose who received 5 mg flumazenil regained consciousness about 1-2 min after the end of injection.","511a3573df1ebcce7d000018_011":"We have recently characterized the human kallikrein gene locus on chromosome 19q13.4, which includes 15 kallikrein genes.","5aa6c800d6d6b54f79000012_001":"The influence of membrane-free microcompartments resulting from crowding-induced liquid\/liquid phase separation (LLPS) on the dynamic spatial organization of FtsZ, the main component of the bacterial division machinery, has been studied using several LLPS systems.","5ace238e0340b9f05800000d_015":"Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes.","56afe6d40a360a5e45000017_004":"Here we present CAGEr, an R implementation of novel methods for the analysis of differential TSS usage and promoter dynamics, integrated with CAGE data processing and promoterome mining into a first comprehensive CAGE toolbox on a common analysis platform","56bc77a3ac7ad10019000015_024":"Meningitis was reported as a serious adverse event in 16\/5,949 and 1\/2,974 children and in 9\/4,358 and 3\/2,179 infants in the RTS,S\/AS01 and control groups, respectively.CONCLUSIONS: RTS,S\/AS01 prevented many cases of clinical and severe malaria over the 18 mo after vaccine dose 3, with the highest impact in areas with the greatest malaria incidence. ","5a7234352dc08e987e000007_004":"Glioblastoma multiforme (GBM), the most common malignant brain tumor of adults, is relatively rare in children. In a GBM affecting a 16-year-old boy, the tumor spread across the corpus callosum (butterfly glioma). ","58f4b9d470f9fc6f0f000016_007":"The tularemia-causing bacterium Francisella tularensis is a facultative intracellular organism with a complex intracellular lifecycle that ensures its survival and proliferation in a variety of mammalian cell types, including professional phagocytes.","5880aef4c872c95565000001_011":"Antibodies targeting CS-1 (elotuzumab) and CD38 (daratumumab) in particular are currently undergoing advanced clinical phase II\/III trials.","56c048acef6e39474100001c_022":"Our results suggest that imetelstat-mediated depletion of CSCs may offer an alternative mechanism by which telomerase inhibition may be exploited for cancer therapy.","589185cc621ea6ff7e00000b_018":"Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy.","5a774fdcfaa1ab7d2e000008_010":"TIRR regulates 53BP1 by masking its histone methyl-lysine binding function.","571f5c150fd6f91b68000009_022":"Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease.","550ea8f1b305b40c5c000005_003":"CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that pridopidine (\u226490 mg\/day) is generally safe and well-tolerated in patients with Huntington disease for up to 1 year.","58cdb41302b8c60953000042_023":"Ehlers-Danlos syndrome (EDS), inherited disorder of connective tissue, frequently leads to impairment of various functional areas,","56d860ad51531f7e33000002_001":"A novel mutation in the endosomal Na+\/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)","5895bc397d9090f35300000b_002":"A Christianson syndrome-linked deletion mutation (\u2206(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.","53357193d6d3ac6a34000047_010":"JAK inhibitor tofacitinib for treating rheumatoid arthritis: from basic to clinical.","587e1a01fc7e8dd84f000001_001":"RADAR: a rigorously annotated database of A-to-I RNA editing","56b330bb39c782df06000001_002":"Interpretation and communication of genomic data require flexible and quantitative tools to analyze and visualize diverse data types, and yet, a comprehensive tool to display all common genomic data types in publication quality figures does not exist to date. To address this shortcoming, we present Sushi.R, an R\/Bioconductor package that allows flexible integration of genomic visualizations into highly customizable, publication-ready, multi-panel figures from common genomic data formats including Browser Extensible Data (BED), bedGraph and Browser Extensible Data Paired-End (BEDPE). Sushi.R is open source and made publicly available through GitHub (https:\/\/github.com\/dphansti\/Sushi) and Bioconductor (http:\/\/bioconductor.org\/packages\/release\/bioc\/html\/Sushi.html).","56c1d856ef6e394741000032_002":"OBJECTIVES: To assess the involvement of ficolin-3, the main initiator of the lectin complement pathway (LCP), in subarachnoid hemorrhage (SAH) pathology and outcome.","5880aef4c872c95565000001_017":"This review focuses on the basic and clinical aspects of two emerging and promising novel MoAbs for MM, elotuzumab which targets CS1 and daratumumab which targets CD38.","5506c3e38e1671127b00000a_018":"The Na(+)\/Ca(2+) exchanger (NCX) plays a role in the regulation of intracellular Ca(2+) levels, and nitric oxide (NO) is involved in many pathological conditions including neurodegenerative disorders. We have previously found that sodium nitroprusside (SNP), an NO donor, causes apoptotic-like cell death in cultured glial cells via NCX-mediated pathways and the mechanism for NO-induced cytotoxicity is cell type-dependent. The present study examined using the specific NCX inhibitor 2-[4-[(2,5-difluorophenyl)methoxy]phenoxy]-5-ethoxyaniline (SEA0400) whether NCX is involved in NO-induced injury in cultured neuronal cells.","550c3754a103b78016000007_002":"Parkinson's disease (PD) and related Lewy body diseases are characterized by deposition of \u03b1-synuclein aggregates in both the central nervous system and peripheral nervous system.","552fac4fbc4f83e828000006_011":"Eighty-five percent of Ewing sarcoma is characterized by the presence of the aberrant chimeric EWS\/FLI1 fusion gene","56f564f909dd18d46b000009_007":"Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease resulting from mutations in the LYST\/CHS1 gene, which encodes for a 429\u00a0kDa protein, CHS1\/LYST, that regulates vesicle trafficking and determines the size of lysosomes and other organelles","5a9ac7ba1d1251d03b000013_001":"This review discusses 5-HT6 antagonists currently in clinical trials as potential treatments for AD symptomatology and how 5-HT6 physiology may play a positive role in alleviating AD symptom pathophysiology. A literature search using PubMed was conducted using the terms Idalopirdine, Intepirdine, 5-HT-6 antagonist, and AD as keywords. ","5a9ac7ba1d1251d03b000013_002":"This review discusses 5-HT6 antagonists currently in clinical trials as potential treatments for AD symptomatology and how 5-HT6 physiology may play a positive role in alleviating AD symptom pathophysiology. A literature search using PubMed was conducted using the terms Idalopirdine, Intepirdine, 5-HT-6 antagonist, and AD as keywords. ","55421ee7ccca0ce74b000002_005":"p53 is well known as the \"guardian of the genome\" for differentiated and neoplastic cells. p53 induces cell-cycle arrest and cell death after DNA damage and thus contributes to the maintenance of genomic stability.","54e1bdacae9738404b000009_002":"Riociguat (Adempas): a novel agent for the treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.","51716e808ed59a060a00000b_001":"Deer are the key hosts of the vector (Ixodes ricinus) that transmits LIV to red grouse Lagopus lagopus scoticus, causing high mortality.","5540ca8a0083d1bf0e000003_001":"Nestin is a unique intermediate filament protein. While it is robustly expressed in developing brain, postnatal expression is limited to the brain's subventricular zone (SVZ)","532f55fed6d3ac6a34000036_008":"Gaucher disease (GD) is a heterogeneous disease characterized by an impaired activity of the lysosomal glucocerebrosidase.","531464a6e3eabad021000014_035":"XK gene sequence analysis revealed a missense mutation in exon 3 (E327K). WBC XK RNA levels were not decreased. ","54d73e223706e89528000010_002":"OBJECTIVE: To assess effectiveness of 5-aminolevulinic acid (5-ALA, Gliolan(\u00ae)) in patients treated for malignant glioma under typical daily practice conditions in Spain, using complete resection rate (CR) and progression free survival at 6 months (PFS6). ","5343fc1aaeec6fbd07000003_039":"type 1 (NF1) is caused by deletions, insertions, translocations, and point mutations in the NF1 gene","56c1f020ef6e394741000047_020":"According to Palmini's classification system, these lesions were categorized as focal cortical dysplasia (FCD) type II. ","56bc77a3ac7ad10019000015_012":"Assessment of severe malaria in a multicenter, phase III, RTS, S\/AS01 malaria candidate vaccine trial: case definition, standardization of data collection and patient care.","5aae6499fcf456587200000c_002":"Borderline oxacillin-resistant Staphylococcus aureus (BORSA) may be misidentified as intrinsically methicillin-resistant Staphylococcus aureus (MRSA) in the clinical laboratory.","5171438a8ed59a060a000007_008":"Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RET exons 10, 11, and 13-16","5a6f853ab750ff4455000055_012":"Clinicians seeing patients in a setting similar to ours (specialized diabetic foot unit with a high prevalence of osteomyelitis) can confidently diagnose diabetic foot osteomyelitis when either the probe-to-bone test or a plain X-ray, or especially both, are positive..","5891f9e549702f2e01000002_015":"BACKGROUND: Reported prevalence of restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), varies from country to country, and methodologic inconsistencies limit comparison of data. ","58a32efe60087bc10a000013_003":"We investigated the distribution of MRSA (methicillin-resistant Staphylococcus aureus) on and around six patients with MRSA infection in our neurosurgical ward.","52bf208003868f1b06000019_002":"Li-Fraumeni syndrome (LFS) is a highly penetrant, autosomal dominant, human familial cancer predisposition","5a67ab79b750ff445500000b_001":"Scores for the pneumonia severity index (PSI); CURB65 (confusion, urea, respiration, blood pressure; age>65\u2009years); Infectious Disease Society of America (IDSA) and American Thoracic Society (ATS) guidelines for severe CAP; Acute Physiology, Chronic Health Evaluation (APACHE) II; Sequential Organ Failure Assessment (SOFA); and quick SOFA (qSOFA) were calculated.","5880aef4c872c95565000001_019":"CD38, a type II transmembrane glycoprotein highly expressed in hematological malignancies including multiple myeloma (MM), represents a promising target for mAb-based immunotherapy. In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope.","5147c8a6d24251bc05000027_006":"Globoid cell leukodystrophy (GCL or Krabbe disease) is a recessive disease caused by mutations of the lysosomal enzyme galactocerebrosidase (GALC) and twitcher is the murine model of GCL.","58aa0c6f396a458e50000008_003":"Oxytocin is known as the 'love hormone' due its role in promoting mother-child and pair bonding.","550e828c71445a662f000002_002":"Gevokizumab is a potent anti-IL-1\u03b2 antibody being developed as a treatment for diseases in which IL-1\u03b2 has been associated with pathogenesis. Previous data indicated that gevokizumab negatively modulates IL-1\u03b2 signaling through an allosteric mechanism. ","5506c3e38e1671127b00000a_039":"The results suggested that SEA0400 is a potent NCX inhibitor, which can protect mouse cardiac myocytes from Ca2+ overload during I\/R injuries.","51542e44d24251bc05000081_002":"Patients with lung adenocarcinoma who carry epidermal growth factor receptor (EGFR) gene mutations respond remarkably well to EGFR tyrosine kinase inhibitor (EGFR-TKI), gefitinib, or erlotinib.","58d8e6818acda3452900000a_010":"Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). ","58ea7248eda5a57672000002_002":" New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. ","551fd9c06b348bb82c000012_023":"The ROSIER scale was effective in the initial differentiation of acute stroke from stroke mimics in the ER.","589a247078275d0c4a000035_010":"Immunotherapy with the anti-GD2 monoclonal antibody ch14.18, or dinutuximab, represents an important therapeutic advance in the treatment of pediatric high-risk neuroblastoma and is now considered part of standard of care in this patient population.","514a0a57d24251bc05000051_025":"The results of this study confirm published reports of the efficacy of flumazenil in reversing benzodiazepine-induced sedation in patients with benzodiazepine overdose.","5a6900ebb750ff445500001d_001":"The inclusion criteria were positive Finkelstein's test and no response to non-surgical treatment for 6 weeks. Forty-eight patients with de Quervain's disease who did not respond to conservative treatment were operated with two different incisions.","5ace12be0340b9f058000007_008":"The gene responsible for the phenotype was mapped to chromosome 7q31 and identified as the FOXP2 gene, coding for a transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain.","587e3e302420191125000002_003":"Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.R package available in Bioconductor and on the following website: http:\/\/lola.computational-epigenetics.org.nsheffield@cemm.oeaw.ac.at or cbock@cemm.oeaw.ac.at.<CopyrightInformation>\u00a9 The Author 2015","58cbb98c02b8c60953000034_013":"Mutations in the human tyrosinase gene produce tyrosinase-related oculocutaneous albinism (OCA1, MIM #203100). Tyrosinase is a copper containing enzyme and is responsible for catalyzing the rate limiting step in melanin biosynthesis, the hydroxylation of tyrosine to dopaquinone. We report 13 new mutations in the tyrosinase gene associated with OCA1A (without pigment) and OCA1B (with pigment) including 9 missense mutations (H19Q, R521, R77C, G97R, C289R, L312V, P313R, F340L and H404P), two nonsense mutations (W80X and R116X) and two frameshift mutations (53delG and 223 delG). ","530cf4e0c8a0b4a00c000006_011":"Hypertrophic cardiomyopathy (HC) is probably the most common cause of sudden cardiac death in youthful athletes, and this diagnosis has represented a contraindication to continued participation in competitive sports. ","530cefaaad0bf1360c00000d_017":"Recently a case of thyroid hemiagenesis in a child with WS has been reported; our patient underscores the association of hypothyroidism and WS. ","56bb68f9ac7ad1001900000b_001":"Phthiriasis palpebrarum is an uncommon cause of blepharoconjunctivitis in which Pthirus pubis infest the eyelashes. We report a case of unilateral phthiriasis palpebrarum with crab louse. ","54d907c84b1fd0d33c000008_010":"Mepolizumab is a fully humanized monoclonal antibody (IgG1\/\u03ba) targeting human interleukin-5 (IL-5), a key haematopoietin needed for eosinophil development and function","55242d512c8b63434a000006_007":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent antagonist of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (9, 10). This led to the development of 3-{2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl}-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (11). 5-HT2A antagonists bind to the total pool of receptors, whereas 5-HT2A agonists bind only to the high-affinity functional state of the receptor but may be more important in disease states because the high affinity sites are the ones that transmit the intracellular signals. ","52fa6ac72059c6d71c000055_001":"Bach1 is a repressor of the oxidative stress response","516e7fda298dcd4e51000081_009":"One of the well-studied PTMs, arginine methylation, is catalyzed by protein arginine methyltransferases (PRMTs) with SAM as the methyl donor.","5a7428090384be9551000001_004":"Correlation between the Wells score and the Quanadli index in patients with pulmonary embolism.","5ace238e0340b9f05800000d_022":"Human chromosome 2 arose as a result of a telomeric fusion between acrocentric chromosomes, whereas chromosomes 4 and 19 in Gorilla gorilla are the products of a reciprocal translocation between ancestral chromosomes, syntenic to human chromosomes 5 and 17, respectively.","58d8e6818acda3452900000a_037":"It has been firmly established that mutations in the gene for fibrillin 1, FBN1, cause Marfan syndrome (MFS).","5324a8ac9b2d7acc7e000018_062":"CML) is characterised by the occurrence of the Philadelphia (Ph) chromosome (9\/22 translocation) and the formation of a fusion protein--the BCR-ABL transcript with constitutive activation of the BCR-ABL tyrosine kinase and consequent changes in the intracellular signal transduction, which is responsible for the deregulated myeloid cell proliferation. STI571 (signal transduction inhibition number 571) is a potent and selective inhibitor of the BCR-ABL tyrosine kinase","5ace37d50340b9f058000011_007":"AIDS is the main predisposing condition for cryptococcal meningitis, and thus the profile of most patients mirrors that of HIV infection.","5abd13e1fcf4565872000029_001":"The accessory navicular (AN) is an accessory ossicle anatomically located on the medial side of the foot, proximal to the navicular and continuous with the tibialis posterior tendon.","571f33bd0fd6f91b68000003_010":"Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients","533be71dfd9a95ea0d000009_012":"MLL1\/MLL2 histone methyltransferase complexes specific for Lys4 of histone H3 (H3K4)","56c048acef6e39474100001c_030":"In this study, we investigated the effects of imetelstat (GRN163L), a potent telomerase inhibitor, on both the bulk cancer cells and putative CSCs. ","52fa6ac72059c6d71c000055_012":" transcription factor Bach1 functions as a repressor of the enhancers of heme oxygenase-1 (HO-1) gene (Hmox-1)","532f55fed6d3ac6a34000036_018":"Gaucher disease in 3 successive generations were tested for the presence of the 2 common mutations known to occur in the glucocerebrosidase gene","56c1f003ef6e394741000039_002":"CONCLUSION: Suvorexant is the first dual orexin receptor antagonist approved for the treatment of insomnia. ","56bc77a3ac7ad10019000015_020":"Effect of ingested human antibodies induced by RTS, S\/AS01 malaria vaccination in children on Plasmodium falciparum oocyst formation and sporogony in mosquitoes.","5ac3699f0340b9f058000001_004":"Our data further reveal that recently evolved enhancers can be associated with genes under positive selection, demonstrating the power of this approach for annotating regulatory adaptations in genomic sequences.","530cefaaad0bf1360c000012_025":"A frequent polymorphism in BTBD9 was significantly associated with serum ferritin. This polymorphism has previously been associated with RLS, but not low iron stores in blood donors.","51542e44d24251bc05000081_009":"Somatic mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene are reportedly associated with sensitivity of lung cancers to gefitinib (Iressa), kinase inhibitor.","58a2e5f760087bc10a000007_008":"The segregation of alpha-synuclein to Lewy body peripheral domain is consistent with the hypothesis that alpha-synuclein is continually deposited onto Lewy bodies.","5ace19420340b9f05800000a_035":"Variants of the melanocortin 1 receptor (MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear.","531464a6e3eabad021000014_053":"We describe a family with a novel point mutation in the XK gene consisting of a C to T base transition at nucleotide position 977, introducing a stop codon.","533ea8fcc45e133714000010_001":"stem-loop structure called the selenocysteine incorporating sequence (SECIS)","58cbb98c02b8c60953000034_042":"To explore the patients genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1).The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents","5880b073c872c95565000003_036":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban).","589630f378275d0c4a000007_006":"AIM: The aim of the present study was to characterize the pharmacokinetics of the oral proteasome inhibitor, ixazomib, in patients with solid tumours and moderate or severe hepatic impairment, to provide posology recommendations.","58a32efe60087bc10a000013_028":"Comparison of the BD Max methicillin-resistant Staphylococcus aureus (MRSA) assay and the BD GeneOhm MRSA achromopeptidase assay with direct- and enriched-culture techniques using clinical specimens for detection of MRSA.","5ace238e0340b9f05800000d_024":"Our results suggest two possible centromere inactivation models to explain the evolutionarily stabilization of human chromosome 2 over the last 5-6 million years.","56c1f010ef6e394741000041_001":"BACKGROUND: The relevance of the Simpson grading system as a predictor of meningioma progression or recurrence in modern neurosurgical practice has recently been called into question. The aim of our study was to compare the risk of progression\/recurrence of tumours that had been treated with different Simpson grade resections in a contemporary population of benign (WHO grade I) meningioma patients.","5323640b9b2d7acc7e000014_001":"Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disease caused by mutations of the Notch3 gene encoding the Notch3 protein. Notch3 is involved in the regulation of apoptosis, modulating Fas-Ligand (Fas-L)- induced apoptosis.","550f0e4c6a8cde6b72000003_013":"DUX4, a homeobox-containing gene present in a tandem array, is implicated in facioscapulohumeral muscular dystrophy (FSHD), a dominant autosomal disease.","5891f9e549702f2e01000002_028":"The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS.","5a7237672dc08e987e000008_015":"Idarucizumab is a reversal agent for dabigatran etexilate.","5343fc1aaeec6fbd07000003_016":"von Recklinghausen syndrome (NF-1) (OMIM 162200) carrying NF1 germline mutations","587e1a01fc7e8dd84f000001_003":"The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also includes an expandable listing of tissue-specific editing levels for each editing site, which will facilitate the assignment of biological functions to specific editing sites","5518e7da622b194345000004_006":"-Jun N-terminal kinase (JNK) mitogen-activated protein kinase (MAPK) signaling pathways","5880b073c872c95565000003_039":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban).","55242d512c8b63434a000006_006":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent antagonist of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (9, 10). This led to the development of 3-{2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl}-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (11). 5-HT2A antagonists bind to the total pool of receptors, whereas 5-HT2A agonists bind only to the high-affinity functional state of the receptor but may be more important in disease states because the high affinity sites are the ones that transmit the intracellular signals. ","56c1f010ef6e394741000041_003":"Surgery for convexity meningioma: Simpson Grade I resection as the goal: clinical article.","55032efde9bde69634000035_003":"Telcagepant is a calcitonin gene-related peptide (CGRP) receptor antagonist being evaluated for acute migraine treatment. ","53357193d6d3ac6a34000047_022":"Recently, CP-690,550 (tofacitinib), originally developed as a JAK3 inhibitor, has been shown to be effective in phase III clinical trials of rheumatoid arthritis and collagen-induced arthritis (CIA) models, but the precise mechanism of the effect, especially with respect to Th17 cells, is poorly understood. ","56c1f045ef6e394741000058_005":"Selexipag: an oral, selective prostacyclin receptor agonist for the treatment of pulmonary arterial hypertension.","56c1f045ef6e394741000058_001":"OBJECTIVE: Selexipag is a novel, oral, selective prostacyclin (PGI2) receptor agonist in clinical development for the treatment of pulmonary arterial hypertension.","589a246078275d0c4a00002a_031":"BACKGROUND: The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.OBJECTIVE: The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.METHODS: RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","588f9950ed9bbee70d000002_004":"PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome.","5abcf0b0fcf4565872000024_003":"Tegumentary leishmaniasis in Latin America is caused mainly by Leishmania viannia braziliensis complex parasites. L. braziliensis and Leishmania viannia peruviana are the 2 predominant Leishmania species in Peru.","58bca2f302b8c6095300000c_005":"CONTEXT: Turner syndrome (TS) is the most common genetic problem affecting women and occurs when an X chromosome is completely deleted, portions of an X chromosome are deleted, or chromosomal mosaicism occurs. ","58eb99f3eda5a57672000009_004":"Do centromeres ensure their early replication by promoting early activation of nearby origins, or have they migrated over evolutionary time to reside in early replicating regions? In Candida albicans, a neocentromere contains an early firing origin, supporting the first hypothesis but not addressing whether the new origin is intrinsically early firing or whether the centromere influences replication time.","5a774fdcfaa1ab7d2e000008_001":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5506c3e38e1671127b00000a_027":"We examined the involvement of the Na(+)\/Ca(2+) exchanger in the automaticity of the pulmonary vein myocardium with a specific inhibitor, SEA0400.","5a742d620384be9551000002_004":"Modified Mallampati Score Improves Specificity of STOP-BANG Questionnaire for Obstructive Sleep Apnea.","5506c3e38e1671127b00000a_041":"The Ca2+ overload by Ca2+ influx via Na+\/Ca2+ exchanger (NCX) is a critical mechanism in myocardial ischemia\/reperfusion injury. We investigated protective effects of a novel selective inhibitor of NCX, SEA0400, on cardiac function and energy metabolism during ischemia and reperfusion.","550f0e4c6a8cde6b72000003_018":"In FSHD, the combination of inefficient chromatin silencing of the D4Z4 repeat and polymorphisms on the FSHD-permissive alleles that stabilize the DUX4 mRNAs emanating from the repeat result in inappropriate DUX4 protein expression in muscle cells. ","5506c3e38e1671127b00000a_050":"The effect of the newly synthesized compound 2-[4-[(2,5-difluorophenyl)methoxy]phenoxy]-5-ethoxyaniline (SEA0400) on the Na+-Ca2+ exchanger (NCX) was investigated and compared against that of 2-[2-[4-(4-nitrobenzyloxy)phenyl]ethyl]isothiourea (KB-R7943).","58a57f9460087bc10a00001f_031":"Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes","55421ee7ccca0ce74b000002_042":"Therefore, while p53 can be rightly defined as the guardian of the genome, we could think of p73 as the \"assistant\" guardian of the genome!","533ea8fcc45e133714000010_014":"The Sec insertion sequence (SECIS) element, which is the stem-loop structure present in 3' untranslated regions (UTRs) of eukaryotic selenoprotein-encoding genes","531464a6e3eabad021000014_016":"A variety of mutations have been found in the responsible gene (XK) including single nonsense and missense mutations, nucleotide mutations at or near the splice junctions of introns of XK, and different deletion mutations. ","5ace238e0340b9f05800000d_009":"We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.","5880aef4c872c95565000001_001":"In the last few weeks, the FDA approved three new therapies for multiple myeloma: ixazomib, the first oral proteasome inhibitor; and daratumumab and elotuzumab, two monoclonal antibodies that target CD38 and SLAMF7, respectively.","533be71dfd9a95ea0d000009_005":"MLL1 and MLL2 H3K4 methyltransferase complexes are tethered by p52 on the MMP9 but not on the IkappaBalpha promoter, and the H3K4 trimethyltransferase activity r","5a74b1730384be9551000007_001":"In this open-label, randomised, controlled phase 3 trial done at two sites in the USA, individuals aged 3 years or older with, in each eye, best corrected visual acuity of 20\/60 or worse, or visual field less than 20 degrees in any meridian, or both, with confirmed genetic diagnosis of biallelic RPE65 mutations, sufficient viable retina, and ability to perform standardised multi-luminance mobility testing (MLMT) within the luminance range evaluated, were eligible. ","54cb9c94f693c3b16b000005_023":"The sarco(endo)plasmic reticulum Ca(2+) transport adenosine triphosphatase (SERCA2a) and its regulator phospholamban (PLN) have a central role in modulating Ca(2+) homeostasis and, therefore, cardiac function.","52f89fc62059c6d71c000050_004":"Cellular proliferation was inhibited in non-small cell lung cancer (NSCLC) cell lines NCI-H460, NCI-H520, NCI-H1299, and SK-MES-1 by CTGF overexpression.","587e2300fc7e8dd84f000004_004":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier. MethPed is available via Bioconductor: http:\/\/bioconductor.org\/packages\/MethPed\/","56c079b1ef6e394741000022_009":"Idarucizumab, an antibody fragment, was developed to reverse the anticoagulant effects of dabigatran.METHODS: We undertook this prospective cohort study to determine the safety of 5 g of intravenous idarucizumab and its capacity to reverse the anticoagulant effects of dabigatran in patients who had serious bleeding (group A) or required an urgent procedure (group B).","5a804f71faa1ab7d2e00001d_001":"Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision medicine. We developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length. We applied our algorithm to WGS data from 3001 ALS patients who have been tested for the presence of theC9orf72repeat expansion with repeat-primed PCR (RP-PCR). Compared against this truth data, ExpansionHunter correctly classified all (212\/212, 95% CI [0.98, 1.00]) of the expanded samples as either expansions (208) or potential expansions (4). Additionally, 99.9% (2786\/2789, 95% CI [0.997, 1.00]) of the wild-type samples were correctly classified as wild type by this method with the remaining three samples identified as possible expansions. We further applied our algorithm to a set of 152 samples in which every sample had one of eight different pathogenic repeat expansions, including those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and correctly flagged all but one of the known repeat expansions. Thus, ExpansionHunter can be used to accurately detect known pathogenic repeat expansions and provides researchers with a tool that can be used to identify new pathogenic repeat expansions.","531464a6e3eabad021000014_040":"Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.","56cf3f4f3975bb303a000008_001":"Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.","550f0e4c6a8cde6b72000003_002":"These results indicate that molecular markers of the disease are already expressed during fetal life, thus opening a new field of investigation for mechanisms leading to FSHD.","5ace19420340b9f05800000a_020":"The human melanocortin-1 receptor gene (MC1R) encodes a G-protein coupled receptor that is primarily expressed on melanocytes, where it plays a key role in pigmentation regulation. Variant alleles are associated with red hair colour and fair skin, known as the RHC phenotype, as well as skin cancer risk.","5895f18ce370baff39000001_003":" In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of 88.95% sensitivity and 84.16% specificity on a large set of human miRNA genes. The trained classifier is used to identify novel miRNA gene candidates located within cancer-associated genomic regions and rank the resulting predictions using expression information from a full genome tiling array. Finally, four of the top scoring predictions are verified experimentally using northern blot analysis. Our work combines both analytical and experimental techniques to show that SSCprofiler is a highly accurate tool which can be used to identify novel miRNA gene candidates in the human genome. SSCprofiler is freely available as a web service at http:\/\/www.imbb.forth.gr\/SSCprofiler.html.","58aa0c6f396a458e50000008_005":"oxytocin, a hormone involved in parent-offspring bonding","56f564f909dd18d46b000009_001":"Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction.","54df695b1388e8454a000004_017":"Genetic mapping of \"Lubag\" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome.","514a0a57d24251bc05000051_024":"Among the benzodiazepine-positive patients, 9 (53%) of 17 patients from the flumazenil group responded to the additional flumazenil, and 58 (81%) of patients previously given placebo responded.","550c3d45a103b78016000008_001":"Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Majority of PD are sporadic, for which genetic causes remain largely unknown. Alpha-synuclein, the main component of Lewy bodies, plays a central role in the PD pathogenesis","5a67c497b750ff4455000012_003":"Overall, Genomiser is able to identify causal regulatory variants as the\u00a0top candidate in 77% of simulated whole genomes, allowing effective detection and discovery of regulatory variants in Mendelian disease.","52fe58f82059c6d71c00007a_004":"The strong replication-biased structuring of the Sulfolobus chromosome implies that the multiple replication origins serve purposes other than simply shortening the time required for replication","550c3d45a103b78016000008_003":"Alpha-synuclein, a main component of Lewy bodies in synucleinopathies and senile plaques in Alzheimer disease, is centrally involved in neurodegeneration.","52b2e498f828ad283c000010_001":"She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed. These phenotypic findings were later confirmed by the presence of fibroblast growth factor receptor 3 (FGFR3) gene mutation N540K.","58cdb41302b8c60953000042_013":"Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes.","53357193d6d3ac6a34000047_017":"A total of 140 patients were randomised to tofacitinib 1, 3, 5, 10 mg or placebo twice daily and the American College of Rheumatology 20% improvement criteria (ACR20) response rate at week 12, a primary end point, was significant for all tofacitinib treatment groups. Thus, an orally available tofacitinib in combination with MTX was efficacious and had a manageable safety profile. Tofacitinib at 5 and 10 mg twice a day appears suitable for further evaluation to optimise the treatment of RA.","5a67b2f7b750ff445500000f_003":"PURPOSE: To clarify the association between clinically defined simple stress urinary incontinence (SUI) symptoms and urodynamic SUI, we examined the relationship between Valsalva leak point pressure (VLPP) as measured by the Q-tip test and Stamey grade in simple female SUI.METHODS: Two hundred grade I or II female SUI patients with SUI symptom were examined by reviewing medical history; physical examination; urethral mobility as assessed by Q-tip test; stress test; and cystometry, including VLPP measurement. ","5a896c26fcd1d6a10c000007_010":"Since a fraction of DBA patients have a deficiency in ribosomal protein S19 (RPS19), we constructed lentiviral vectors containing the RPS19 gene for overexpression in hematopoietic progenitors from RPS19-deficient DBA patients.","58e9e7aa3e8b6dc87c00000d_012":"While several ADAR enzymes are present in mice, the presence of a single ADAR in Drosophila, combined with the diverse genetic toolkit available to researchers and the wide range of ADAR target mRNAs identified to date, make Drosophila an ideal organism to study the genetic basis of A-to-I RNA editing","5a86f074faa1ab7d2e00003a_012":"chordomas arise in the skull base and spine and usually occur in adults and are rare in the pediatric population cases of chordoma in pediatric age are often poorly differentiated showing cytologic atypia increased cellularity and mitosis and their aggressive behavior is associated with a high incidence of metastatic spread and a short patient survival recent studies have described loss of smarcb1 ini1 protein in poorly differentiated chordomas associated not with point mutations but with smarcb1 ini1 gene deletions instead in this study we considered immunohistochemistry and smarcb1 ini1 mutational status to examine smarcb1 status in a series of pediatric chordomas 7 classic and 1 poorly differentiated we performed immunohistochemical tests for ini1 brachyury s100 and cytokeratins and conducted a genetic analysis on the smarcb1 coding sequence nm 003073 using the sanger method and multiplex ligation dependent probe amplification to detect abnormal copy numbers of the gene locus all 8 cases were positive for brachyury whereas there was no nuclear smarcb1 ini1 expression in 4 of the 8 cases including the poorly differentiated chordoma genetic analysis identified a missense mutation in 2 cases and a nonsense mutation associated with loss of smarcb1 ini1 protein and features of poorly differentiated tumor in 1 these mutations were novel variants occurring in heterozygosity and they were judged to be pathogenic by 3 different bioinformatic tools in 7 of 8 cases we performed multiplex ligation dependent probe amplification and 3 cases showed deletions at the smarcb1 locus our results confirm the pathogenic involvement of smarcb1 ini1 in childhood chordoma we also describe 3 novel pathogenic mutations.","56c3184050c68dd416000003_003":"These are the preliminary data of an open multicenter trial of antihypertensive treatment with isradipine as monotherapy (dose, 4.55 +\/- 0.56 mg twice daily; n = 11) or isradipine (7.5 +\/- 0.63 mg twice daily) in combination with bopindolol (1.16 +\/- 0.12 mg once daily; n = 30) administered for 3 years to patients with essential hypertension (WHO classification I or II).","5324a8ac9b2d7acc7e000018_050":"CML) is a clonal hematopoietic disorder caused by the reciprocal translocation between chromosome 9 and 22. As a result of this translocation, a novel fusion gene, BCR-ABL, is created on Philadelphia (Ph) chromosome, and the constitutive activity of the BCR-ABL protein tyrosine kinase plays a critical role in the disease pathogenesis. Imatinib mesylate, a selective BCR-ABL tyrosine kinase inhibitor","5a8980d2fcd1d6a10c00000d_003":"Brown adipose tissue (BAT) mitochondria are distinct from their counterparts in other tissues in that ATP production is not their primary physiologic role. BAT mitochondria are equipped with a specialized protein known as uncoupling protein 1 (UCP1). UCP1 short-circuits the electron transport chain, allowing mitochondrial membrane potential to be transduced to heat, making BAT a tissue capable of altering energy expenditure and fuel metabolism in mammals without increasing physical activity.","515db3d8298dcd4e51000015_003":"Scanning tunneling microscope (STM) and transmission electron microscope (TEM) micrographs showed that acidic keratins and basic keratins can assemble into dimers and further into 10 nm filamentsin vitro.","53357ca0d6d3ac6a3400004b_001":"To assess the efficacy and safety of R788 (fostamatinib disodium), an inhibitor of spleen tyrosine kinase (Syk), in patients with active rheumatoid arthritis (RA) that did not respond to biologic therapies. ","5891f9e549702f2e01000002_010":"The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS","58a32efe60087bc10a000013_035":"Multicenter evaluation of the Cepheid Xpert methicillin-resistant Staphylococcus aureus (MRSA) test as a rapid screening method for detection of MRSA in nares.","5ace19420340b9f05800000a_005":"Red hair in man is due to certain loss of function mutations of one of the peptide products of the pro-opiomelanocortin (POMC) gene, the melanocortin-1 receptor (MC1R, MIM 155555)","56c865d25795f9a73e000016_002":"Basal NAD(P)H oxidase activity was blocked by GKT136901 (Nox1\/4 inhibitor) and by Nox1 siRNA in WKY cells and by siNOX1 and siNOX2 in SHR.","55032e65e9bde69634000034_006":"The purpose of this study was to retrospectively evaluate the cognitive and electroclinical characteristics of right cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome [DDMS]). ","5a4df811966455904c00000e_014":"In the resulting model of Pol I, the C-terminal ribbon (C-ribbon) domain of A12.2 reaches the active site via the polymerase pore, like the C-ribbon of the Pol II cleavage factor TFIIS, explaining why the intrinsic RNA cleavage activity of Pol I is strong, in contrast to the weak cleavage activity of Pol II.","58b56fe422d3005309000007_006":"Other already committed cells are the angioblasts forming the endothelial lining of the blood vessels, the neural crest cells differentiating into melanocytes and Schwann cells, and the blood-derived cells like chrondro- or osteoclasts.","52fa6ac72059c6d71c000055_016":"Bach1 forms a heterodimer with small Maf family, and functions as a repressor of the Maf recognition element (MARE) in vivo","52bf1f1303868f1b06000014_009":"Suppression subtractive hybridization performed on Down syndrome (DS) versus control fetal brains revealed differential expression of peroxiredoxin 2 (PRDX2), mapped at 13q12. Peroxiredoxins are antioxidant enzymes involved in protein and lipid protection against oxidative injury and in cellular signalling pathways regulating apoptosis. T","52bf19f703868f1b06000002_004":"Several mutations in the genes encoding RyR1 and RyR2 have been identified in autosomal dominant diseases of skeletal and cardiac muscle, such as malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2). ","58d906b28acda3452900000d_008":"Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome.","58dd0dde8acda34529000027_014":" Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and other organ systems.","55376f19bc4f83e82800000c_002":"Medulloblastoma is a malignant cerebellar tumor seen primarily in the pediatric age group that has a known ability to metastasize extraneurally","56c04412ef6e39474100001b_011":"Daratumumab stood out from other CD38 mAbs in its strong ability to induce complement-dependent cytotoxicity in patient MM cells. Importantly, daratumumab-induced Ab-dependent cellular cytotoxicity and complement-dependent cytotoxicity were not affected by the presence of bone marrow stromal cells, indicating that daratumumab can effectively kill MM tumor cells in a tumor-preserving bone marrow microenvironment. In vivo, daratumumab was highly active and interrupted xenograft tumor growth at low dosing. ","550e828c71445a662f000002_007":"Gevokizumab is claimed to be a regulatory therapeutic antibody that modulates IL-1\u03b2 bioactivity by reducing the affinity for its IL-1RI:IL-1RAcP signaling complex. How IL-1\u03b2 signaling is affected by both canakinumab and gevokizumab was not yet experimentally determined. We have analyzed the crystal structures of canakinumab and gevokizumab antibody binding fragment (Fab) as well as of their binary complexes with IL-1\u03b2. ","5890e163621ea6ff7e000004_008":"Given that tanezumab is an antibody, the drug demonstrates the general advantages of this class of products (including good specificity and favorable pharmacokinetics), and also appears to be particularly well suited for targeting the chronic and inflammatory-mediating pain actions of NGF and its receptor system.","55032e65e9bde69634000034_007":"Dyke-Davidoff-Masson syndrome, or cerebral hemiatrophy, is a pre- or perinatally acquired entity characterized by predominantly neurologic symptoms, such as seizures, facial asymmetry, contralateral hemiplegia, and mental retardation. ","5a895f51fcd1d6a10c000004_003":"CTCF sites at loop anchors occur predominantly (>90%) in a convergent orientation, with the asymmetric motifs \"facing\" one another. ","5a774fdcfaa1ab7d2e000008_019":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1.","56e0447a51531f7e3300000b_010":"Subviral pathogens of plants: the viroids.","5880b073c872c95565000003_022":"Recent results from phase 3\/4 studies demonstrate efficacy for an antidote to dabigatran (idarucizumab, a monoclonal antibody fragment with specificity for dabigatran) and an antidote to factor Xa inhibitors (andexanet alfa, a recombinant and inactive form of factor Xa that binds inhibitors).","551fd9c06b348bb82c000012_032":"The ROSIER scale was effective in the initial differentiation of acute stroke from stroke mimics in the ER","58a57f9460087bc10a00001f_038":"In humans, haploinsufficiency of MITF causes Waardenburg syndrome type 2, while a dominant-negative mutation causes Tietz syndrome.","56ed0ffe2ac5ed1459000008_004":"An evidence-based review of ixazomib citrate and its potential in the treatment of newly diagnosed multiple myeloma.","511a3573df1ebcce7d000018_009":"Novel kallikrein genes were cloned recently, and it was shown that the human kallikrein family contains 15 genes tandemly aligned on chromosomal locus 19q13.3-q13.4.","54df695b1388e8454a000004_014":"Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women.","590c74d170f9fc6f0f00001e_001":"Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation.","5a7237672dc08e987e000008_004":"Effect of Age and Renal Function on Idarucizumab Pharmacokinetics and Idarucizumab-Mediated Reversal of Dabigatran Anticoagulant Activity in a Randomized, Double-Blind, Crossover Phase Ib Study.","56c58ceeb04e159d0e000004_001":"Recent research has revealed that circRNAs can function as microRNA (miRNA) sponges, regulators of splicing and transcription, and modifiers of parental gene expression.","56c1f01def6e394741000045_011":"Therefore, (+)-3c (termed orteronel [TAK-700]) was selected as a candidate for clinical evaluation and is currently in phase III clinical trials for the treatment of castration-resistant prostate cancer.","55054f8af73303d458000002_010":"Bones are potentially the best age indicators in a stratigraphic study, because they are closely related to the layer in which they are found. Collagen is the most suitable fraction and is the material normally used in radiocarbon dating.","550ea8f1b305b40c5c000005_005":"Pridopidine (ACR16) belongs to a novel class of central nervous system compounds in development for the treatment of Huntington disease. The objective of the study was to investigate the metabolic changes in patients with Huntington disease before and after pridopidine treatment. METHODS: [(18)F]Fluorodeoxyglucose positron emission tomographic imaging was used to measure the regional cerebral metabolic rate of glucose at baseline and after 14 days of open-label pridopidine treatment in 8 patients with Huntington disease. ","530cefaaad0bf1360c00000d_002":"In the Williams-Beuren syndrome (WBS), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. ","5a774fdcfaa1ab7d2e000008_015":"P53-binding protein 1 (53BP1) is a multi-functional double-strand break repair protein that is essential for class switch recombination in B lymphocytes and for sensitizing BRCA1-deficient tumours to poly-ADP-ribose polymerase-1 (PARP) inhibitors. Central to all 53BP1 activities is its recruitment to double-strand breaks via the interaction of the tandem Tudor domain with dimethylated lysine 20 of histone H4 (H4K20me2). Here we identify an uncharacterized protein, Tudor interacting repair regulator (TIRR), that directly binds the tandem Tudor domain and masks its H4K20me2 binding motif. Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and recruits RAP1-interacting factor 1 (RIF1) to dissociate the 53BP1-TIRR complex. However, overexpression of TIRR impedes 53BP1 function by blocking its localization to double-strand breaks. Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1. These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.","589480b47d9090f353000007_002":"Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results.","571e14fbbb137a4b0c000001_007":"Empagliflozin, (2S,3R,4R,5S,6R)-2-[4-chloro-3-[[4-[(3S)-oxolan-3-yl]oxyphenyl]methyl]phenyl]-6-(hydroxymethyl)oxane-3,4,5-triol was recently approved by the FDA for the treatment of chronic type 2 diabetes mellitus","589480b47d9090f353000007_004":"webSDA currently has three modules: 'SDA docking' to generate structures of the diffusional encounter complexes of two macromolecules, 'SDA association' to calculate bimolecular diffusional association rate constants, and 'SDA multiple molecules' to simulate the diffusive motion of hundreds of macromolecules.","551fd9c06b348bb82c000012_011":"The Recognition of Stroke in the Emergency Room (ROSIER) scale: development and validation of a stroke recognition instrument.","58f4b25e70f9fc6f0f000011_001":" Hy's Law of drug-induced hepatocellular jaundice causing a case-fatality rate or need for transplant of 10% or higher has been validated in several large national registries, including the ongoing, prospective U.S. Drug-Induced Liver Injury Network. ","5a9e202bde7cb99d40000002_002":"We used proximity extension immunoassay (PEA, Proseek Multiplex, Olink) to assess the serum levels of ninety-two inflammation-related proteins in Czech patients with SLE (n\u00a0=\u00a075) and age-matched healthy control subjects (n\u00a0=\u00a023).","5540ca8a0083d1bf0e000003_005":"the nonspecific precursor cell marker Nestin","5a6f960fb750ff445500005c_001":"Objective. A study to determine if addition of palatal petechiae to Centor criteria adds more value for clinical diagnosis of acute strep pharyngitis in children. Hypothesis. In children, Centor Criteria does not cover all the symptoms and signs of acute strep pharyngitis. We hypothesize that addition of palatal petechiae to Centor Criteria will increase the possibility of clinical diagnosis of group A streptococcal pharyngitis in children. ","5aa824a8fcf4565872000002_001":"Tecifidera is approved for the treatment of relapsing-remitting multiple sclerosis","56c079b1ef6e394741000022_005":"BACKGROUND: Idarucizumab is a monoclonal antibody fragment that binds dabigatran with high affinity in a 1:1 molar ratio. We investigated the safety, tolerability, and efficacy of increasing doses of idarucizumab for the reversal of anticoagulant effects of dabigatran in a two-part phase 1 study (rising-dose assessment and dose-finding, proof-of-concept investigation).","56c04412ef6e39474100001b_001":"Daratumumab, an investigated anti-cancer drug targeting CD38, has been of great interest in the treatment of CD38-expressing malignancies, especially multiple myeloma. ","5519113b622b19434500000f_024":"Mowat-Wilson syndrome is a recently delineated autosomal dominant developmental anomaly, whereby heterozygous mutations in the ZFHX1B gene cause mental retardation, delayed motor development, epilepsy and a wide spectrum of clinically heterogeneous features, suggestive of neurocristopathies at the cephalic, cardiac and vagal levels","51631154298dcd4e5100004e_017":"Bortezomib, a first-in-class proteasome inhibitor, has shown clinical activity in relapsed, refractory multiple myeloma in a pivotal Phase II trial, SUMMIT.","587e07023ec846c24f000001_001":"PHYLUCE is a software package for the analysis of conserved genomic loci","54d8fd334b1fd0d33c000005_003":"Rindopepimut specifically targets a novel junctional epitope of the EGFR deletion mutant EGFRvIII, which is a constitutively active receptor that is expressed in approximately 60 to 70% of patients with GBM. ","5a6e42f1b750ff4455000046_001":"Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined","56b710f276d8bf8d13000003_001":"Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. ","5890e163621ea6ff7e000004_007":"Tanezumab (RN-624), a first-in-class recombinant humanized mAb targeting NGF, is being developed by Pfizer Inc for the potential treatment of pain associated with several conditions.","58d8e6818acda3452900000a_002":"A marked decrease in heart rate variability in Marfan syndrome patients with confirmed FBN1 mutations.","58eb9542eda5a57672000007_014":"We performed a genome-wide screen to identify proteins that colocalize with coilin, the marker protein of Cajal bodies.","5353aedb288f4dae47000006_009":"the X-inactivated-specific transcript (Xist) gene, whose gene product consists of RNA which coats and thereby inactivates one of the X chromosomes","550f0e4c6a8cde6b72000003_021":"Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies.","54e0d1491388e8454a000014_007":"AREAS COVERED: Evolocumab and alirocumab are fully human monoclonal antibodies inhibiting the proprotein convertase subtilisin\/kexin type 9 (PCSK9) that binds to hepatic LDL receptor and prevents it from normal recycling by targeting it for degradation.","5324bdba9b2d7acc7e00001a_001":"Modifications of the bladder wall (organ damage) in patients with bladder outlet obstruction: ultrasound parameters.","58cbb98c02b8c60953000034_009":"Mutations at a single N-glycosylation sequon of tyrosinase have been reported to be responsible for oculocutaneous albinism type IA in humans, characterized by inactive tyrosinase and the total absence of pigmentation. ","5506c3e38e1671127b00000a_023":"In view of the previous observation that NO stimulates the activity of the Na(+)\/Ca(2+) exchanger (NCX), this study examines the involvement of NCX in cytotoxicity. The specific NCX inhibitor SEA0400 blocked SNP-induced phosphorylation of ERK, JNK and p38 MAPK, and decrease in cell viability. ","55242d512c8b63434a000006_027":"PET was performed by using [18F]altanserin to evaluate 5-HT2A receptor binding in 11 elderly patients with depression (four men, seven women; mean age = 65.0 years, SD = 5.5); nine Alzheimer's disease patients, including three with concurrent depression (two men, seven women; mean age = 69.7 years, SD = 5.0); and 10 age-matched healthy subjects (four men, six women; mean age = 69.8 years, SD = 5.0)","5540ca8a0083d1bf0e000003_010":"In addition, bone marrow transplantation promoted proliferation of ependymal and subependymal cells, identified by nestin (a neuroepithelial stem cell marker), within the ventricular zone and subventricular zone (VZ\/SVZ).","56a39d60496b62f23f000006_002":"We present r3Cseq, an R\/Bioconductor package designed to perform 3C-seq data analysis in a number of different experimental designs. The package reads a common aligned read input format, provides data normalization, allows the visualization of candidate interaction regions and detects statistically significant chromatin interactions, thus greatly facilitating hypothesis generation and the interpretation of experimental results. We further demonstrate its use on a series of real-world applications","5506c3e38e1671127b00000a_006":"The Na(+)\/Ca(2+)exchanger (NCX) principal function is taking 1 Ca(2+) out of the cytoplasm and introducing 3 Na(+). The increase of cytoplasmic Na(+) concentration induces the NCX reverse mode (NCX(REV)), favoring Ca(2+) influx. NCX(REV) can be inhibited by: KB-R7943 a non-specific compound that blocks voltage-dependent and store-operated Ca(2+) channels; SEA0400 that appears to be selective for NCX(REV), but difficult to obtain and SN-6, which efficacy has been shown only in cardiomyocytes.","5891c90949702f2e01000001_009":"UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","534427f8aeec6fbd07000009_002":"We used whole-exome sequencing to identify novel non-synonymous somatic mutations in squamous cell lung cancer.","53357ca0d6d3ac6a3400004b_002":"The spleen tyrosine kinase (Syk) inhibitor R406 is orally administered as the prodrug R788. ","58a6db8660087bc10a00002c_009":"Saccharomyces cerevisiae Swr1, a Swi2\/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z. ","5506c3e38e1671127b00000a_001":"The plasma membrane Na(+)\/Ca(2+) exchanger (NCX) is a bidirectional ion transporter that couples the translocation of Na(+) in one direction with that of Ca(2+) in the opposite direction. This system contributes to the regulation of intracellular Ca(2+) concentration via the forward mode (Ca(2+) efflux) or the reverse mode (Ca(2+) influx).","55032e65e9bde69634000034_010":"The so-called Dyke-Davidoff-Masson syndrome (DDMS) is a rare disorder of cerebral hemiatrophy. The clinical presentation may consist of facial asymmetry, contralateral atrophy (including the trunk, and the extremities) and hemiparesis, speech difficulties, mental retardation, and epilepsy.","5ace19420340b9f05800000a_002":"Our findings suggest that in humans, as in other mammals, the MC1R is a control point in the regulation of pigmentation phenotype and, more importantly, that variations in this protein are associated with a poor tanning response.","5519113b622b19434500000f_031":"MWS is caused by de novo heterozygous mutations in the ZEB2 gene","5890fde5621ea6ff7e000009_003":"The two most commonly used and clinically accepted DAVF classifications are the Merland-Cognard classification and the Borden classification, both based on the morphology of the venous drainage","5a6f960fb750ff445500005c_010":"A study to determine if addition of palatal petechiae to Centor criteria adds more value for clinical diagnosis of acute strep pharyngitis in children.In children, Centor Criteria does not cover all the symptoms and signs of acute strep pharyngitis. We hypothesize that addition of palatal petechiae to Centor Criteria will increase the possibility of clinical diagnosis of group A streptococcal pharyngitis in children.One hundred patients with a complaint of sore throat were enrolled in the study. All the patients were examined clinically using the Centor Criteria. They were also examined for other signs and symptoms like petechial lesions over the palate, abdominal pain, and skin rash. All the patients were given rapid strep tests, and throat cultures were sent. No antibiotics were given until culture results were obtained.The sample size was 100 patients. All 100 had fever, sore throat, and erythema of tonsils. Twenty of the 100 patients had tonsillar exudates, 85\/100 had tender anterior cervical lymph nodes, and 86\/100 had no cough. In total, 9 out of the 100 patients had positive throat cultures. We observed that petechiae over the palate, a very significant sign, is not included in the Centor Criteria. Palatal petechiae were present in 8 out of the 100 patients. Six out of these 8 with palatal petechiae had positive throat culture for strep (75%). Only 7 out of 20 with exudates had positive strep culture. Sixteen out of the 100 patients had rapid strep test positive. Those 84\/100 who had negative rapid strep also had negative throat culture.We used Fisher's exact test, comparing throat culture positive and negative versus presence of exudates and palatal hemorrhages with positive and negative throat cultures and the resultant P value <.0001.Our study concludes that addition of petechiae over the palate to Centor Criteria will increase the possibility of diagnosing acute group A streptococcal pharyngitis in children.","550f0e4c6a8cde6b72000003_031":"Our results suggest that the misexpression of DUX4-fl, even at extremely low level, can recapitulate the phenotype observed in FSHD patients in a vertebrate model. These results strongly support the current hypothesis for a role of DUX4 in FSHD pathogenesis.","5a67b2f7b750ff445500000f_006":"Role of the Q-tip test in evaluating stress urinary incontinence.","58eb99f3eda5a57672000009_008":"Do centromeres ensure their early replication by promoting early activation of nearby origins, or have they migrated over evolutionary time to reside in early replicating regions? In Candida albicans, a neocentromere contains an early firing origin, supporting the first hypothesis but not addressing whether the new origin is intrinsically early firing or whether the centromere influences replication time.","58a32efe60087bc10a000013_030":"Comparison of MRSASelect Agar, CHROMagar Methicillin-Resistant Staphylococcus aureus (MRSA) Medium, and Xpert MRSA PCR for detection of MRSA in Nares: diagnostic accuracy for surveillance samples with various bacterial densities.","56bc77a3ac7ad10019000015_010":"The efficacy of RTS,S\/AS01 as a vaccine for malaria is being tested in a phase 3 clinical trial.","56ed03862ac5ed1459000004_015":" MLN4924 is an investigational small-molecule inhibitor of NEDD8-activating enzyme (NAE) in clinical trials for the treatment of cancer. MLN4924 is a mechanism-based inhibitor, with enzyme inhibition occurring through the formation of a tight-binding NEDD8-MLN4924 adduct.","56d1da3b67f0cb3d66000006_004":"Our analysis identified three extended periods in the evolution of gene regulatory elements. Early vertebrate evolution was characterized by regulatory gains near transcription factors and developmental genes, but this trend was replaced by innovations near extracellular signaling genes, and then innovations near posttranslational protein modifiers.","5a8b1264fcd1d6a10c00001d_004":"Fusarium wilt is one of the most prevalent and damaging diseases of tomato. Among various toxins secreted by the Fusarium oxysporum f. sp. lycopersici (causal agent of Fusarium wilt of tomato)","52bf1d2e03868f1b0600000c_001":"Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).","5a7346662dc08e987e00001a_002":"BACKGROUND: Puffy hand syndrome is a complication of intravenous drug abuse, which has no current available treatment.","5ace19420340b9f05800000a_039":"Red hair individuals are usually compound heterozygotes or homozygous for one of a number of MC1R polymorphisms associated with red hair.","533be71dfd9a95ea0d000009_009":" trimethylated H3K4 histones and histone methyltransferase MLL1","58cbb98c02b8c60953000034_033":"Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC","57138eb21174fb175500000a_001":"Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of transcription. The C-terminus of the ataxin-3 protein contains a polyglutamine (PolyQ) region that, when mutationally expanded to over 52 glutamines, causes the neurodegenerative disease spinocerebellar ataxia 3 (SCA3)","56c3184050c68dd416000003_005":"[Long-term antihypertensive therapy with isradipine. Improvement of coronary flow reserve in patients with arterial hypertension and microvascular angina].","54f9cb34dd3fc62544000002_002":"The sarco(endo)plasmic reticulum Ca(2+) transport adenosine triphosphatase (SERCA2a) and its regulator phospholamban (PLN) have a central role in modulating Ca(2+) homeostasis and, therefore, cardiac function. Herein, we discuss the mechanisms through which SERCA2a and PLN control cardiomyocyte function in health and disease. Emphasis is placed on our newly identified PLN-binding partner HS-1-associated protein X-1 (HAX-1), which has an anti-apoptotic function and presents with numerous similarities to Bcl-2.","5880aef4c872c95565000001_021":"CD38, a type II transmembrane glycoprotein highly expressed in hematological malignancies including multiple myeloma (MM), represents a promising target for mAb-based immunotherapy. In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. Daratumumab induced potent Ab-dependent cellular cytotoxicity in CD38-expressing lymphoma- and MM-derived cell lines as well as in patient MM cells, both with autologous and allogeneic effector cells.","5519113b622b19434500000f_030":"Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported","5319a7d2b166e2b806000029_001":"Carboxyl terminus of hsc70-interacting protein (CHIP) can remodel mature aryl hydrocarbon receptor (AhR) complexes and mediate ubiquitination of both the AhR and the 90 kDa heat-shock protein (hsp90) in vitro","58a32efe60087bc10a000013_020":"Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.","589a246078275d0c4a00002a_015":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks","5a86f074faa1ab7d2e00003a_013":"chordomas arise in the skull base and spine and usually occur in adults and are rare in the pediatric population cases of chordoma in pediatric age are often poorly differentiated showing cytologic atypia increased cellularity and mitosis and their aggressive behavior is associated with a high incidence of metastatic spread and a short patient survival recent studies have described loss of smarcb1 ini1 protein in poorly differentiated chordomas associated not with point mutations but with smarcb1 ini1 gene deletions instead in this study we considered immunohistochemistry and smarcb1 ini1 mutational status to examine smarcb1 status in a series of pediatric chordomas 7 classic and 1 poorly differentiated we performed immunohistochemical tests for ini1 brachyury s100 and cytokeratins and conducted a genetic analysis on the smarcb1 coding sequence nm 003073 using the sanger method and multiplex ligation dependent probe amplification to detect abnormal copy numbers of the gene locus all 8 cases were positive for brachyury whereas there was no nuclear smarcb1 ini1 expression in 4 of the 8 cases including the poorly differentiated chordoma genetic analysis identified a missense mutation in 2 cases and a nonsense mutation associated with loss of smarcb1 ini1 protein and features of poorly differentiated tumor in 1 these mutations were novel variants occurring in heterozygosity and they were judged to be pathogenic by 3 different bioinformatic tools in 7 of 8 cases we performed multiplex ligation dependent probe amplification and 3 cases showed deletions at the smarcb1 locus our results confirm the pathogenic involvement of smarcb1 ini1 in childhood chordoma we also describe 3 novel pathogenic mutations.","532f55fed6d3ac6a34000036_007":"mutations in glucocerebrosidase (GBA) gene","531464a6e3eabad021000014_031":"McLeod syndrome resulting from a novel XK mutation.","56c1f021ef6e394741000048_001":"Unusual volume reduction of Galassi grade III arachnoid cyst following head trauma.","5a7237672dc08e987e000008_002":" New oral anticoagulants such as apixaban, rivaroxaban, or dabigatran may be preferred to vitamin K antagonists in patients without cancer or renal failure, more so after the development of reversal agents such as idarucizumab and andexanet alfa.","5ace12be0340b9f058000007_002":"Transcription factor forkhead box protein P2 (FOXP2) plays an essential role in the development of language and speech.","514a0a57d24251bc05000051_046":"The efficacy and safety of flumazenil were assessed in comparison to placebo in a double-blind randomised study of 31 adults intoxicated with benzodiazepines. The criteria of efficacy were the degree of sedation, and orientation in time and space. Patients who received flumazenil awoke within minutes but central depression returned partly one hour later, which reflects the short elimination half-life of the drug.","51542e44d24251bc05000081_004":"Somatic mutations in exons encoding the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are found in human lung adenocarcinomas and are associated with sensitivity to the tyrosine kinase inhibitors gefitinib and erlotinib.","56f7c15a09dd18d46b000012_008":"These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome.","56c04412ef6e39474100001b_025":"This article focuses on the basic and clinical aspects of several emerging and promising novel MoAbs for MM, such as elotuzumab which targets CS1 and daratumumab which targets CD38.","5147c8a6d24251bc05000027_002":"In almost all individuals with Krabbe disease, galactocerebrosidase (GALC) enzyme activity is deficient (0%-5% of normal activity) in leukocytes isolated from whole heparinized blood or in cultured skin fibroblasts.","5519113b622b19434500000f_021":"Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with \"syndromic Hirschsprung disease\" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al. [1998: J Med Genet 35: 617-623] is specific for ZFHX1B mutations.","56c04412ef6e39474100001b_005":"CONCLUSION: DARA causes panreactivity in vitro by binding to CD38 on reagent RBCs. ","56bc7d71ac7ad10019000018_004":"Delamanid for multidrug-resistant pulmonary tuberculosis.","54e0c3e71388e8454a000013_002":"Orteronel (TAK-700) is a novel and selective inhibitor of CYP17A1, which is expressed in testicular, adrenal and prostate tumor tissues.","5ace19420340b9f05800000a_050":"Melanocortin receptor 1 (MC1R) and agouti signaling protein (ASIP) are two major genes affecting coat color phenotypes in mammals, and inactivation mutations in the MC1R gene are responsible for red coat color in European pig breeds.","5891f9e549702f2e01000002_036":"STUDY OBJECTIVES: Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease.","58d8e6818acda3452900000a_009":"Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.","51596a8ad24251bc0500009e_003":". Centrosome components, including \u03b3-tubulin and Cep135,","55421ee7ccca0ce74b000002_045":"This is the first report that demonstrates the mechanism of action of the MAR-binding protein SMAR1 in modulating the activity of p53, often referred to as the \"guardian of the genome.\"","55054f8af73303d458000002_001":"Collagen was extracted from modern and archaeological cod bones using a weak HCl solution and analysed for its sulphur isotopic composition by isotope ratio mass spectrometry (IRMS)","54cf45e7f693c3b16b00000a_005":"Calsequestrin (CASQ) is the major component of the sarcoplasmic reticulum (SR) lumen in skeletal and cardiac muscles. This calcium-binding protein localizes to the junctional SR (jSR) cisternae, where it is responsible for the storage of large amounts of Ca(2+)","56ed03862ac5ed1459000004_009":"We used MLN4924, a phase 2 oncology therapeutic, which targets and inhibits the NEDD8-activating enzyme pathway involved in the ubiquitin-proteasome system","532f55fed6d3ac6a34000036_017":"mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients","55032e65e9bde69634000034_003":"CT of the brain revealed characteristic features diagnostic of infantile type of cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome.","5a67c497b750ff4455000012_006":"Genomiser scores variants through either existing methods such as CADD or a bespoke machine learning method and combines these with allele frequency, regulatory sequences, chromosomal topological domains, and phenotypic relevance to\u00a0discover variants associated to specific Mendelian disorders.","571f33bd0fd6f91b68000003_002":"Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS","533ea8fcc45e133714000010_011":" insertion into proteins is directed by translational recoding of specific UGA codons located upstream of a stem-loop structure known as Sec insertion sequence (SECIS) element","55180ef46487737b43000006_003":"Treatment of dermatitis herpetiformis is based on a life-long, strict gluten-free diet, which improves all clinical aspects of gluten sensitivity, and dapsone, a drug that is only effective for the skin manifestations.","58bfd8e902b8c60953000018_022":"Recurrent necrobiosis lipoidica diabeticorum associated with venous insufficiency in an adolescent with poorly controlled type 2 diabetes mellitus.","587e3129c32c812009000002_004":"Here, we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD.","517194ef8ed59a060a000011_001":"In contrast, it has been thought that Plasmodium spp., the causative agent of malaria, rely mainly on cytosolic glycolysis but not mitochondrial oxidative phosphorylation for energy production during blood stages.","5889eb503b87a8a73800000b_001":"Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.","58a57f9460087bc10a00001f_040":"Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.","5a67ab79b750ff445500000b_008":"We aimed to derive a practical algorithm combining the CURB65 score with ProADM-levels in patients with community-acquired pneumonia (CAP) and non-CAP-LRTI.","58a57f9460087bc10a00001f_032":"For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome","56c04412ef6e39474100001b_010":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. Daratumumab induced potent Ab-dependent cellular cytotoxicity in CD38-expressing lymphoma- and MM-derived cell lines as well as in patient MM cells, both with autologous and allogeneic effector cells. ","530cefaaad0bf1360c00000d_012":"Thyroid involvement in Williams syndrome (WS) was recently reported in two small groups of patients, both showing an increased prevalence of elevation of TSH serum concentration; in one of the two reports, 70% of the patients demonstrated a hypoplasia of thyroid gland as well. ","5a7428090384be9551000001_008":"Prospective validation of Wells Criteria in the evaluation of patients with suspected pulmonary embolism.","58cbb98c02b8c60953000034_026":"Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).","5324a8ac9b2d7acc7e000018_024":"CML is induced by the BCR-ABL oncogene, whose gene product is a BCR-ABL tyrosine kinase. Currently, inhibition of BCR-ABL kinase activity by its kinase inhibitor such as imatinib mesylate (Gleevec)","5ace19420340b9f05800000a_051":"No loss-of-function mutation in MC1R responsible for red coat color in European breeds was observed in this breed.","5324bdba9b2d7acc7e00001a_008":" conventional ultrasound bladder wall thickness (BWT) measurements ","531464a6e3eabad021000014_027":"The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. ","5324a8ac9b2d7acc7e000018_018":"BCR-ABL levels","531464a6e3eabad021000014_051":"The McLeod syndrome is an X-linked disorder caused by mutations of the XK gene encoding the XK protein.","5880e417713cbdfd3d000001_003":"Background Data from studies in nonhuman primates suggest that the triple monoclonal antibody cocktail ZMapp is a promising immune-based treatment for Ebola virus disease (EVD).","56cb9b065795f9a73e000032_004":"In this study, from a panel of 105 potential small-molecule inhibitors, two compounds Tripolin A and Tripolin B, inhibited Aurora A kinase activity in vitro","5891b125621ea6ff7e00000e_007":"Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-na\u00efve or previously treated with imiglucerase.","58cbb98c02b8c60953000034_022":"Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1).","54f9c40ddd3fc62544000001_014":"Transcription downstream of Ca(2+) influx is in large part funneled through the transcription factor nuclear factor of activated T cells (NFAT), a heavily phosphorylated protein that is cytoplasmic in resting cells, but that enters the nucleus when dephosphorylated by the calmodulin-dependent serine\/threonine phosphatase calcineurin","58a32efe60087bc10a000013_025":"Comparison of the Xpert methicillin-resistant Staphylococcus aureus (MRSA) assay, BD GeneOhm MRSA assay, and culture for detection of nasal and cutaneous groin colonization by MRSA.","55180ef46487737b43000006_025":"Dermatitis herpetiformis (DH) is a chronic papulovesicular immune-mediated disorder associated with gluten-sensitive enteropathy","5343fc1aaeec6fbd07000003_015":"These genes include RB1, NF1, NF2, TSC1, TSC2, TP53, PTEN, APC, hMLH1, hPSM2, and PTCH","589480b47d9090f353000007_003":"Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results.","5519110f622b19434500000c_005":"The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies.","54cb9c94f693c3b16b000005_006":"Phospholamban (PLN), the reversible inhibitor of the sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA2a), is a key regulator of myocyte Ca(2+) cycling with a significant role in heart failure.","56c8f4615795f9a73e00001a_007":"GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution.","58a57f9460087bc10a00001f_028":"By analyzing the genes for Waardenburg syndrome, we showed that PAX3, the gene responsible for Waardenburg syndrome type 1, regulates MITF, the gene responsible for Waardenburg syndrome type 2.","533be71dfd9a95ea0d000009_007":"Set1\/COMPASS is capable of methylating H3K4, a posttranslational modification associated with actively transcribed genes. There is only one Set1 in yeast; yet in mammalian cells there are multiple H3K4 methylases, including Set1A\/B, forming human COMPASS complexes, and MLL1-4","5a742d620384be9551000002_006":"The aims of this study were to (1) explore the incidence of right-sided heart dysfunction (RHD) and STOP-Bang questionnaire responses consistent with obstructive sleep apnea (OSA) and (2) assess the relationship between patients with STOP-Bang questionnaire responses consistent with OSA and echocardiographic findings suggestive of RHD.","55421ee7ccca0ce74b000002_041":"The guardians of the genome (p53, TA-p73, and TA-p63) are regulators of tumor suppressor miRNAs network.","517818508ed59a060a000035_003":"This multicenter investigation into the phenotypic correlates of MECP2 mutations in Rett syndrome has provided a greater depth of understanding than hitherto available about the specific phenotypic characteristics associated with commonly occurring mutations","54f35ad864850a5854000004_007":"velopment of semagacestat (LY450139), a functional gamma-secretase inhibitor, for the treatment of Alzheimer's disease.","54cb9c94f693c3b16b000005_010":"phospholamban (PLN), a muscle-specific SR Ca(2+)-ATPase (SERCA2a) inhibitor","5118dd1305c10fae75000001_007":"BMI appears to be associated with RA disease activity in women, but not in men.","54e0c3e71388e8454a000013_008":"Orteronel (TAK-700), a novel, selective, and potent inhibitor of 17,20-lyase is under development as a drug to inhibit androgen synthesis. In this study, we quantified the inhibitory activity and specificity of orteronel for testicular and adrenal androgen production by evaluating its effects on CYP17A1 enzymatic activity, steroid production in monkey adrenal cells and human adrenal tumor cells, and serum levels of dehydroepiandrosterone (DHEA), cortisol, and testosterone after oral dosing in castrated and intact male cynomolgus monkeys.","5a9700adfcd1d6a10c00002c_001":" Sclerostin is a soluble antagonist of Wnt\/\u03b2-catenin signaling secreted primarily by osteocytes. Current evidence indicates that sclerostin likely functions as a local\/paracrine regulator of bone metabolism rather than as an endocrine hormone. ","56c4d14ab04e159d0e000003_003":"In this study we directly compared the genomic integration efficiencies of piggyBac, hyperactive Sleeping Beauty (SB11), Tol2, and Mos1 in four mammalian cell lines. piggyBac demonstrated significantly higher transposition activity in all cell lines whereas Mos1 had no activity.","58ea7248eda5a57672000002_001":" New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. ","5ace19420340b9f05800000a_004":"In humans, melanocortin 1 receptor variants are associated with red hair and fair skin, and work in progress from our laboratory suggests that certain melanocortin 1 receptor variants may preferentially be associated with hair color rather than skin type. ","5a9700adfcd1d6a10c00002c_002":"The glycoprotein sclerostin (Scl; 22 kDa), which is involved in bone metabolism, ","5156be17d24251bc05000086_001":"patients 65 years or older with major depression. METHODS: Antidepressant therapy with 15 to 45 mg\/d of mirtazapine (n = 124) or 20 to 40 mg\/d of paroxetine (n = 122)","5a895f51fcd1d6a10c000004_009":"we recently used in situ hi c to create kilobase resolution 3d maps of mammalian genomes here we combine these maps with new hi c microscopy and genome editing experiments to study the physical structure of chromatin fibers domains and loops we find that the observed contact domains are inconsistent with the equilibrium state for an ordinary condensed polymer combining hi c data and novel mathematical theorems we show that contact domains are also not consistent with a fractal globule instead we use physical simulations to study two models of genome folding in one intermonomer attraction during polymer condensation leads to formation of an anisotropic tension globule in the other ccctc binding factor ctcf and cohesin act together to extrude unknotted loops during interphase both models are consistent with the observed contact domains and with the observation that contact domains tend to form inside loops however the extrusion model explains a far wider array of observations such as why loops tend not to overlap and why the ctcf binding motifs at pairs of loop anchors lie in the convergent orientation finally we perform 13 genome editing experiments examining the effect of altering ctcf binding sites on chromatin folding the convergent rule correctly predicts the affected loops in every case moreover the extrusion model accurately predicts in silico the 3d maps resulting from each experiment using only the location of ctcf binding sites in the wt thus we show that it is possible to disrupt restore and move loops and domains using targeted mutations as small as a single base pair.","51631154298dcd4e5100004e_007":"Patients aged \u226518 years with relapsed or refractory multiple myeloma or non-Hodgkin's lymphoma received intravenous bortezomib 1.3\u2009mg\/m2, administered on days 1, 4, 8 and 11 of a 21-day cycle, for 3 cycles.","55475dc2f35db75526000001_001":"Botulism is a serious foodborne neuroparalytic disease, caused by botulinum neurotoxin (BoNT), produced by the anaerobic bacterium Clostridium botulinum.","52bf1d9e03868f1b06000010_006":"Clearly, the approval of denosumab, a monoclonal antibody directed against RANKL, has just marked the beginning of a new era for bone therapy with several additional new therapies lining up for clinical approval in the coming years.","589a246078275d0c4a00002a_039":"To report safety and efficacy outcomes from up to 9 years of treatment with teriflunomide in an extension (NCT00803049) of the pivotal phase 3 Teriflunomide Multiple Sclerosis Oral (TEMSO) trial (NCT00134563).","55203ae78e534a4535000001_002":" Psoriasin, originally isolated from psoriasis as an overexpressed molecule of unknown function, has recently been identified as a principal Escherichia coli-killing antimicrobial peptide of healthy skin. ","52f89fc62059c6d71c000050_007":"Importantly, the non-small cell lung carcinoma cell lines expressed either liver-specific (non-neuronal) mRNA (cell line A549) or predominantly the neuronal (cell line NCI-H520) AADC message. ","56bc77a3ac7ad10019000015_001":"This randomized, double-blind study (NCT01323972) assessed consistency of three RTS,S\/AS01 malaria vaccine batches formulated from commercial-scale purified antigen bulk lots in terms of anti-CS-responses induced.","5a6d1733b750ff4455000030_002":"Here we present the Limb-Enhancer Genie (LEG), a collection of highly accurate, genome-wide predictions of enhancers in the developing limb, available through a user-friendly online interface.","54f9c40ddd3fc62544000001_007":"Calcium activated gene transcription through Nuclear Factor of Activated T-cells, (NFAT) proteins, is emerging as a ubiquitous mechanism for the control of important physiological processes. Of the five mammalian NFAT isoforms, transcriptional activities of NFATs 1-4 are stimulated by a calcium driven association between the ubiquitous phosphatase calcineurin and the calcium-sensing protein calmodulin.","572096c90fd6f91b6800000e_004":"Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene","5ace238e0340b9f05800000d_018":"By doing so, one is able to provide evidence for the presence of both active and degenerate centromeric satellite profiles on chromosome 2 in these archaic genomes, supporting the hypothesis that the chromosomal fusion event took place prior to our last common ancestor with Denisovan and Neandertal hominins and presenting a genomic reference for predicting karyotype in ancient genomic datasets.<br>","54f9b74306d9727f76000004_001":"In these conditions, JTV519 (K201), a 1,4-benzothiazepine derivative and multi-channel blocker, stabilizes RyR2s and decrease SR Ca\u00b2\u207a leak.","56afe6d40a360a5e45000017_006":"Despite their high resolution and functional significance, published CAGE data are still underused in promoter analysis due to the absence of tools that enable its efficient manipulation and integration with other genome data types. Here we present CAGEr, an R implementation of novel methods for the analysis of differential TSS usage and promoter dynamics, integrated with CAGE data processing and promoterome mining into a first comprehensive CAGE toolbox on a common analysis platform.","5aae6499fcf456587200000c_004":"Borderline oxacillin-resistant Staphylococcus aureus (BORSA) exhibit oxacillin MIC values of 1-8 microg ml(-1), but lack mecA, which encodes the low-affinity penicillin-binding protein (PBP)2a.","55032e65e9bde69634000034_014":"This paper presents an 18-year-old mentally retarded patient with cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome) associated with a growing skull fracture in the ipsilateral hemicranium, in whom not only a dural tear but also the ipsilaterally displaced and dilated lateral ventricle due to the original disease apparently contributed to the development of growing skull fracture.","5343fc1aaeec6fbd07000003_034":"This neoplastic lesion is a common feature of neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders. The NF1 gene codes for a protein called \"neurofibromin.","5a742d620384be9551000002_020":"PURPOSE This study aims: (1) to identify patients with multiple sclerosis (MS) who are at high risk for obstructive sleep apnea (OSA) by utilizing the STOP-BANG questionnaire and (2) to evaluate the relationship between OSA risk as determined by the STOP-BANG questionnaire and self-reported sleepiness and fatigue using the Epworth Sleepiness Scale (ESS) and the Fatigue Severity Scale (FSS), respectively.","58eb9542eda5a57672000007_028":"We have found that coilin, the marker protein for Cajal bodies (coiled bodies, CBs), is a self-interacting protein, and we have mapped the domain responsible for this activity to the amino-terminus.","55032e65e9bde69634000034_009":"Cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome) in childhood: clinicoradiological analysis of 19 cases.","57136a7e1174fb1755000006_003":"This study aims to validate a reliable method for non-invasive prenatal diagnosis of fetal gender using maternal plasma cell-free fetal DNA (cffDNA) for fetal sex assessment in the first trimester of pregnancy and test its clinical utility in the diagnosis of potentially affected pregnancies in carriers of X-linked disorders.","56f564f909dd18d46b000009_012":"Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the \u03b2-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations. This article reviews conditions in which PN may coexist with parkinsonism.","58eb9542eda5a57672000007_002":"Extensive studies have characterized the interaction between coilin and the various other protein components of CBs and related subnuclear domains; however, only a few have examined interactions between coilin and nucleic acid.","54e1bdacae9738404b000009_008":"Riociguat (Adempas(\u00ae)), an oral first-in-class soluble guanylate cyclase (sGC) stimulator, is under global development by Bayer Healthcare Pharmaceuticals Inc","58cbb98c02b8c60953000034_014":"Mutations in the human tyrosinase gene produce tyrosinase-related oculocutaneous albinism (OCA1, MIM #203100). Tyrosinase is a copper containing enzyme and is responsible for catalyzing the rate limiting step in melanin biosynthesis, the hydroxylation of tyrosine to dopaquinone. We report 13 new mutations in the tyrosinase gene associated with OCA1A (without pigment) and OCA1B (with pigment) including 9 missense mutations (H19Q, R521, R77C, G97R, C289R, L312V, P313R, F340L and H404P), two nonsense mutations (W80X and R116X) and two frameshift mutations (53delG and 223 delG). ","54cb9c94f693c3b16b000005_003":"SR Ca-transport is mediated by the SR Ca-ATPase (SERCA2a) and its regulatory phosphoprotein, phospholamban (PLN). Dephosphorylated PLN is an inhibitor of SERCA2a and phosphorylation by protein kinase A (PKA) or calcium-calmodulin-dependent protein kinases (CAMKII) relieves these inhibitory effects.","54fc91e96ad7dcbc12000001_004":"It has performed very satisfactorily in toxicology and Phase I clinical trials and is advancing as a disease-modifying candidate drug for Alzheimer's disease.","589a246078275d0c4a00002a_034":"BACKGROUND: The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.OBJECTIVE: The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.METHODS: RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","5880b812c872c95565000006_008":"The nonnucleoside reverse transcriptase inhibitors UC-781 and TMC120-R147681 (Dapivirine) effectively prevented human immunodeficiency virus (HIV) infection in cocultures of monocyte-derived dendritic cells and T cells, representing primary targets in sexual transmission","5547a01cf35db75526000005_002":"Microsporidia are ubiquitous fungi with genomes that have undergone a strong reduction","56c1f01def6e394741000045_006":"Phase III, randomized, double-blind, multicenter trial comparing orteronel (TAK-700) plus prednisone with placebo plus prednisone in patients with metastatic castration-resistant prostate cancer that has progressed during or after docetaxel-based therapy: ELM-PC 5.","571e12097de986d80d000017_009":"Rationale, design and baseline characteristics of a 4-year (208-week) phase III trial of empagliflozin, an SGLT2 inhibitor, versus glimepiride as add-on to metformin in patients with type 2 diabetes mellitus with insufficient glycemic control.","5717dbfe7de986d80d000001_014":"Role of dynamin-related protein 1 (Drp1)-mediated mitochondrial fission in oxygen sensing and constriction of the ductus arteriosus","530cefaaad0bf1360c00000d_023":"Subclinical hypothyroidism is a frequent but stable finding in young children with WS. The great majority of patients with WS >10 years, either with normal or hypoplastic thyroid, have normal thyroid function.","5abcf010fcf4565872000023_010":"Carpal tunnel syndrome (CTS) is the most common median nerve neuropathy, accounting for 90% of all neuropathies","5324a8ac9b2d7acc7e000018_053":"CML was the first human cancer demonstrated to be strongly associated to the presence of a recurrent chromosomal translocation (the t(9;22)(q34;q11) that creates the Philadelphia (Ph)-chromosome) and to a specific molecular defect, the formation of a hybrid BCR-ABL gene ","58a2e5f760087bc10a000007_013":"This apparent conflict in protein levels might have arisen from examining Lewy body disease cases with coexisting Alzheimer-type pathologies.To assess whether ATP13A2 levels in Lewy body disease are modified by Alzheimer-type \u03b2-amyloid deposition, we evaluated cases of pure PD and pure dementia with Lewy bodies (DLB) for changes in ATP13A2, \u03b1-synuclein and \u03b2-amyloid protein levels in cortical regions with and without Lewy bodies.In all Lewy body disease cases, we identified decreased ATP13A2 protein levels that correlated with increases in both \u03b1-synuclein and \u03b2-amyloid","58d8e6818acda3452900000a_057":"Through a number of investigational approaches, the gene encoding for fibrillin, the FBN1 gene on chromosome 15, has been identified as the defective gene causing the Marfan syndrome.","532366f09b2d7acc7e000015_002":"CADASIL is caused mostly by missense mutations in the NOTCH3 gene, invariably involving a cysteine residue.","531464a6e3eabad021000014_022":"Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.","530cefaaad0bf1360c000012_001":"These results when viewed along with prior RLS SPECT and autopsy studies of DAT, and cell culture studies with iron deficiency and DAT, suggest that membrane-bound striatal DAT, but not total cellular DAT, may be decreased in RLS.","5a7237672dc08e987e000008_009":"Idarucizumab, a monoclonal antibody fragment that binds dabigatran with high affinity, is in development as a specific antidote for dabigatran.","5895bc397d9090f35300000b_004":"BACKGROUND: Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia.","5880b073c872c95565000003_032":"Andexanet Alfa for the Reversal of Factor Xa Inhibitor Activity","58b56fe422d3005309000007_005":"Schwann cells, the myelinating glia of the peripheral nervous system (PNS), originate from multipotent neural crest cells that also give rise to other cells, including neurons, melanocytes, chondrocytes, and smooth muscle cells.","5880dba9c872c95565000009_004":"OBJECTIVES: Cyclin D-cyclin-dependent kinase (CDK) 4\/6-inhibitor of CDK4\/6-retinoblastoma (Rb) pathway hyperactivation is associated with hormone receptor-positive (HR+) breast cancer (BC). This study assessed the biological activity of ribociclib (LEE011; CDK4\/6 inhibitor) plus letrozole compared with single-agent letrozole in the presurgical setting","55192892622b194345000012_002":"Both ligand-dependent and -independent pathways converge on phosphorylation of Ser(535) within the IFNAR1 degron leading to recruitment of beta-Trcp E3 ubiquitin ligase and concomitant ubiquitination and degradation.","54e0c3e71388e8454a000013_009":" In summary, orteronel potently inhibited the 17,20-lyase activity of monkey and human CYP17A1 and reduced serum androgen levels in vivo in monkeys. ","58a32efe60087bc10a000013_053":"methicillin-resistant Staphylococcus aureus (MRSA)","5a7237672dc08e987e000008_003":"Idarucizumab resulted in immediate, complete and sustained reversal of dabigatran anticoagulant activity, and was safe and well tolerated in middle-aged, elderly and renally impaired volunteers. ","5343fc1aaeec6fbd07000003_038":"type 1 (NF1) is caused by deletions, insertions, translocations, and point mutations in the NF1 gene","5ace17c30340b9f058000009_002":"These findings suggest that 1) the perceived intensity of some but not all odorants is a heritable trait, 2) use of a current genome-wide marker panel did not detect a known olfactory genotype-phenotype association, and 3) person-to-person differences in androstenone perception are influenced by OR7D4 genotype and perhaps by variants of other genes.","51387022bee46bd34c000002_004":"These results suggest important roles for SINEs in the development of the mammalian neuronal network, a part of which was initiated with the exaptation of AmnSINE1 in a common mammalian ancestor.","5a7428090384be9551000001_002":"Incremental diagnostic quality gain of CTA over V\/Q scan in the assessment of pulmonary embolism by means of a Wells score Bayesian model: results from the ACDC collaboration.","56f564f909dd18d46b000009_010":"Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle.","5519110f622b19434500000c_003":"Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus","5ab147edfcf4565872000013_008":"In order to determine the prevalence of latent infection due to Mycobacterium tuberculosis in drug users and to provide centres for drug users with a practical tool for tuberculosis screening, 237 drug users were subjected to the Monotest and, for reference purposes, to the Mantoux test.","55032e65e9bde69634000034_019":"Dyke-Davidoff-Masson syndrome is a relatively rare syndrome with its typical clinical and radiological features including facial asymmetry, hemiplegia, cerebral hemiatrophy, mental retardation with calvarial thickening, hypertrophy of sinuses and elevated petrous ridge on imaging","58a6db8660087bc10a00002c_017":"The chromatin remodeler SWR1 mediates site-specific incorporation of H2A.Z by a multi-step histone replacement reaction, evicting histone H2A-H2B from the canonical nucleosome and depositing the H2A.Z-H2B dimer.","5a68f965b750ff445500001a_001":"he appraised infectious agents were Coccobacilli, Candida sp, Trichomonas vaginalis, and clue cells (Gardnerella vaginalis).","5149f494d24251bc0500004c_008":"To determine whether naloxone administered i.v. to out-of-hospital patients with suspected opioid overdose would have a more rapid therapeutic onset than naloxone given subcutaneously (s.q.).","57090c33cf1c325851000013_001":"To date, however, fewer than 100 imprinted genes have been identified in the human genome.","56c048acef6e39474100001c_028":"A Pilot Study of the Telomerase Inhibitor Imetelstat for Myelofibrosis.","56c1f02cef6e39474100004c_003":"Together, these results suggest that GV1001 possesses neuroprotective effects against A\u03b2\u2082\u2085\u208b\u2083\u2085 oligomer in NSCs and that these effects are mediated through mimicking the extra-telomeric functions of human telomerase reverse transcriptase, including the induction of cellular proliferation, anti-apoptotic effects, mitochondrial stabilization, and anti-aging and anti-oxidant effects.","52fe58f82059c6d71c00007a_006":"multiple chromosome replication origins in Sulfolobus species has added yet another eukaryotic trait to the archaea","56c3184050c68dd416000003_008":"A multicenter evaluation of the safety and efficacy of isradipine and atenolol in the treatment of hypertension. ","58e75d483e8b6dc87c000005_005":"Our findings identify novel combinatorial protein-protein interactions for GATA-1, PU.1, and C\/EBPepsilon isoforms in eosinophil gene transcription that include GATA-1\/PU.1 synergy and repressor activity for C\/EBPepsilon(27)..","58f4b9d470f9fc6f0f000016_008":"Francisella tularensis is a highly virulent bacterium that causes tularemia, a disease that is often fatal if untreated.","534427f8aeec6fbd07000009_001":"Whole genome sequencing of the index liver metastasis identified 44 non-synonymous somatic mutations in 42 genes (0.85 mutation\/MB) and a large hemizygous deletion in the ATRX gene which has been recently reported in neuroblastoma.","5a68f005b750ff4455000016_010":"Dialectical behavior therapy (DBT) was originally developed by Marsha Linehan (1991) for the treatment of borderline personality disorder, but because of the core deficits in emotion regulation in disruptive behavior disorders, DBT is also increasingly being recommended for the treatment of CD and APD.","56c3184050c68dd416000003_002":"Isradipine monotherapy was an effective antihypertensive drug in blacks with essential hypertension, resulting in regression of left ventricular wall thickness and mass and augmentation of fractional shortening per 100 g left ventricular mass.","5519a7d5622b194345000015_001":"LHCII, the largest plant photosynthetic pigment-protein complex of photosystem II, is a most abundant membrane protein in living organisms and comprises approximately half of the pool of chlorophyll molecules in the biosphere. ","5a761ac3aacfb9cd4c000002_010":"Syndrome Doege-Potter is a paraneoplastic syndrome in which hypoglycemia is the result of tumors producing insulin growth factor-like (IGF-II) it is most often solitary fibrous tumor of the pleura (TFSP).","51387022bee46bd34c000002_006":"Fish-mammal genomic comparisons have proved powerful in identifying conserved noncoding elements likely to be cis-regulatory in nature, and the majority of those tested in vivo have been shown to act as tissue-specific enhancers associated with genes involved in transcriptional regulation of development","5ace19420340b9f05800000a_012":"We describe a minisequencing protocol for screening DNA samples for the presence of 12 mutations in the human melanocortin 1 receptor gene (MC1R), eight of which are associated with the red hair phenotype","5880b073c872c95565000003_013":"Andexanet alfa is a factor Xa (FXa) decoy that binds to direct and indirect FXa inhibitors. In Phase III trials in healthy volunteers, andexanet alfa reduced anti-FXa activity by more than 90%, reduced the concentration of unbound direct FXa inhibitor, and inhibited thrombin generation. ","5abbe429fcf456587200001c_003":"Apixaban is the second oral direct selective factor Xa inhibitor approved for the prevention of stroke\/systemic embolism in patients with nonvalvular AF.","5519a7d5622b194345000015_003":"LHCII, the most abundant membrane protein on earth, is the major light-harvesting complex of plants. I","587e3129c32c812009000002_008":"The traseR R package preloaded with up-to-date collection of trait-associated SNPs are freely available in Bioconductor zhaohui.qin@emory.edu Supplementary data are available at Bioinformatics online..","58af1cb3717cd3f655000003_001":"Autosomal XX sex reversal caused by duplication of SOX9","589a246078275d0c4a00002a_001":"Long-term safety and efficacy of teriflunomide: Nine-year follow-up of the randomized TEMSO study.","56c1f020ef6e394741000047_004":"Of the 91 patients, there were 50 patients with ILAE focal cortical dysplasia type Ib, 41 with ILAE focal cortical dysplasia type Ic, 63 with Palmini et al focal cortical dysplasia type IA, and 28 with Palmini et al focal cortical dysplasia type IB. ","5880aef4c872c95565000001_036":"Importantly, IFN\u03b3 was able to up-regulate CD38, the target of the therapeutic antibody daratumumab.","550342a8f8aee20f27000002_002":"Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy?","5ace17c30340b9f058000009_004":"A previously reported association between the olfactory receptor OR7D4 and the androstenone was not detected until we specifically typed this gene (P = 1.1 \u00d7 10(-4)).","51542e44d24251bc05000081_001":"Adenocarcinomas, the most common histologic subtype of non-small cell lung cancer (NSCLC), are frequently associated with activating mutations in the epidermal growth factor receptor (EGFR) gene. Although these patients often respond clinically to the EGFR tyrosine kinase inhibitors erlotinib and gefitinib,","58e23ec66fddd3e83e000010_004":" European honey bees, Apis mellifera","54ede28094afd61504000003_004":"Fanconi anemia (FA) is characterized at the cellular level by a high frequency of spontaneous chromosomal aberrations; crosslinking agents cause an abnormal increase in the frequency of chromosomal damage, and semiconservative DNA synthesis is severely inhibited","56e6dfc2edfc094c1f000003_001":"Apelin, a small regulatory peptide, is the endogenous ligand for the apelin receptor (APJ) receptor.","58cd7fed02b8c6095300003f_001":"The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis. ","58bc8e7a02b8c60953000007_005":"Plantar fasciitis is the most common cause of heel pain and is estimated to affect 2 million people in the United States alone.For adults suffering from plantar fasciitis, are foot orthoses a viable treatment option to reduce pain","5314bd7ddae131f847000006_012":"Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome (\"Leprechaunism\"), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death. ","5a7237672dc08e987e000008_023":"Idarucizumab is an antibody fragment that binds dabigatran with high affinity.","589a246078275d0c4a00002a_016":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks","58a57f9460087bc10a00001f_020":"The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss","5313058de3eabad02100000e_006":"Case report of surgically treated mechanical low back pain from the facet joint contralateral to a unilateral anomalous lumbosacral articulation (Bertolotti's syndrome). ","58861d413b87a8a738000002_011":"Remission in post-traumatic stress disorder (PTSD): effects of sertraline as assessed by the Davidson Trauma Scale, Clinical Global Impressions and the Clinician-Administered PTSD scale.","5a6f853ab750ff4455000055_009":"<b>BACKGROUND<\/b>: We investigated the validity of probe-to-bone testing in the diagnosis of osteomyelitis in a selected subgroup of patients clinically suspected of having diabetic foot osteomyelitis.<br><b>METHODS<\/b>: Between January 1, 2007, and December 31, 2008, inpatients and outpatients with a diabetic foot ulcer were prospectively evaluated, and those having a clinical diagnosis of foot infection and at least one of the osteomyelitis clinical suspicion criteria were consecutively included in this study.<br><b>RESULTS<\/b>: Sixty-five patients met the inclusion criteria and were prospectively enrolled in the study.","5880aef4c872c95565000001_034":"Daratumumab is a human monoclonal antibody that targets CD38, a cell surface protein that is overexpressed on multiple myeloma (MM) cells.","5a774fdcfaa1ab7d2e000008_012":"P53-binding protein 1 (53BP1) is a multi-functional double-strand break repair protein that is essential for class switch recombination in B lymphocytes and for sensitizing BRCA1-deficient tumours to poly-ADP-ribose polymerase-1 (PARP) inhibitors. Central to all 53BP1 activities is its recruitment to double-strand breaks via the interaction of the tandem Tudor domain with dimethylated lysine 20 of histone H4 (H4K20me2). Here we identify an uncharacterized protein, Tudor interacting repair regulator (TIRR), that directly binds the tandem Tudor domain and masks its H4K20me2 binding motif. Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and recruits RAP1-interacting factor 1 (RIF1) to dissociate the 53BP1-TIRR complex. However, overexpression of TIRR impedes 53BP1 function by blocking its localization to double-strand breaks. Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1. These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.","54df695b1388e8454a000004_003":"Neuropsychological profile of a Filipino gentleman with X-linked dystonia-parkinsonism: a case report of Lubag disease.","56c04412ef6e39474100001b_016":"This review focuses on the basic and clinical aspects of two emerging and promising novel MoAbs for MM, elotuzumab which targets CS1 and daratumumab which targets CD38.","56ed03862ac5ed1459000004_013":"MLN4924, a NEDD8-activating enzyme inhibitor, is active in diffuse large B-cell lymphoma models: rationale for treatment of NF-{kappa}B-dependent lymphoma.","552fac4fbc4f83e828000006_009":"Eighty-five percent of Ewing sarcoma is characterized by the presence of the aberrant chimeric EWS\/FLI1 fusion gene.","55032efde9bde69634000035_018":"Single- and multiple-dose pharmacokinetics and tolerability of telcagepant, an oral calcitonin gene-related peptide receptor antagonist, in adults.","5324a8ac9b2d7acc7e000018_038":"The hallmark of CML is an acquired chromosomal translocation known as the Philadelphia chromosome (Ph) that results in the synthesis of the BCR-ABL fusion protein, a constitutively active tyrosine kinase (TK). The introduction of imatinib, a TK inhibitor (TKI) specific for BCR-ABL, was a major breakthrough in CML therapy","54d907c84b1fd0d33c000008_004":"There has been a variable effect with the leukotriene receptor antagonist montelukast and promising early results with mepolizumab, a monoclonal antibody against interleukin-5. ","5506c3e38e1671127b00000a_009":"The Na(+)\/Ca(2+)exchanger (NCX) principal function is taking 1 Ca(2+) out of the cytoplasm and introducing 3 Na(+). The increase of cytoplasmic Na(+) concentration induces the NCX reverse mode (NCX(REV)), favoring Ca(2+) influx. NCX(REV) can be inhibited by: KB-R7943 a non-specific compound that blocks voltage-dependent and store-operated Ca(2+) channels; SEA0400 that appears to be selective for NCX(REV), but difficult to obtain and SN-6, which efficacy has been shown only in cardiomyocytes.","5a4df811966455904c00000e_001":"In contrast, Pol II is fully protected through association with the cleavage stimulatory factor TFIIS, which enables rapid recovery from any depth by RNA cleavage.","58cdb41302b8c60953000042_014":"Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues.","589a247078275d0c4a000035_005":"Dinutuximab administered in combination with GM-CSF, IL-2 and isotretinoin represents an important advance in the postconsolidation treatment of patients with high-risk neuroblastoma, with its benefits outweighing its risks in a patient population with a poor prognosis and limited therapeutic options.","589185cc621ea6ff7e00000b_005":"OBJECTIVE: To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).METHODS: Nusinersen was delivered by intrathecal injection to medically stable patients with type 2 and type 3 SMA aged 2-14 years in an open-label phase 1 study and its long-term extension. ","589a246078275d0c4a00002a_037":"Two phase III clinical trials (TEMSO, TOWER) tested teriflunomide in patients with relapsing forms of MS: efficacy was shown, with positive effects on relapse rates and disease progression for 14 mg\/day.","55421ee7ccca0ce74b000002_004":"the critical tumor suppressor p53, known as the guardian of the genome","5a7237672dc08e987e000008_012":"To evaluate the role of idarucizumab, a humanized monoclonal antibody fragment, as a specific reversal agent for the anticoagulant activity of dabigatran and to review the pharmacology, pharmacokinetic properties, efficacy, and safety of this agent.","56bc77a3ac7ad10019000015_030":"This article provides a summary of the discussions, conclusions and recommendations from that meeting.Meeting sessions included: a review of the efficacy of artemisinin-based combination therapy in Guyana and Suriname; the outcomes from a consultation on non-malaria febrile illness; the outcomes from the second meeting of the Evidence Review Group on malaria burden estimation; an update on the review of the WHO Guidelines for the Treatment of Malaria; an update regarding progress on the constitution of the vector control Technical Expert Group; updates on the RTS, S\/AS01 vaccine and the malaria vaccine technology roadmap; financing and resource allocation for malaria control; malaria surveillance and the need for a surveillance, monitoring and evaluation Technical Expert Group; criteria and classification related to malaria elimination; the next meeting of the Evidence Review Group on Intermittent Preventive Treatment in pregnancy; an update on the soon-to-be launched Elimination Scenario Planning Tool; and an update on the process for the Global Technical Strategy for Malaria Control and Elimination (2016-2025).Policy statements, position statements, and guidelines that arise from the MPAC meeting conclusions and recommendations will be formally issued and disseminated to World Health Organization Member States by the World Health Organization Global Malaria Programme.","571f5c150fd6f91b68000009_009":"Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.","5343fc1aaeec6fbd07000003_012":" Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries","5324a8ac9b2d7acc7e000018_021":"CML) is a genetically associated malignancy of haematopoietic stem cells, characterized by a t(9;22) translocation that forms the Philadelphia chromosome and creates a novel fusion gene, BCR-ABL. Treatment with molecular-targeted therapy is usually initiated with imatinib","5171438a8ed59a060a000007_013":"Germline mutations of the ret protooncogene are the underlying cause of the MEN2 syndromes and a proportion of cases of HSCR. In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.","58a57f9460087bc10a00001f_029":"MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II.","5147c8a6d24251bc05000027_009":"Krabbe disease is an autosomal recessive inherited demyelinating disease, which is deficient in lysosomal enzyme, galactocerebrosidase.","5a679e8cb750ff4455000006_002":"The Milwaukee protocol, which to date has five reported human rabies survivors associated with its use, has been suggested as a potential management pathway for human rabies. ","52f89fc62059c6d71c000050_003":"BHLHB3 gene overexpression inhibited colony formation of A549, NCI-H520 and NCI-H596 lung cancer cells. ","571f5c150fd6f91b68000009_002":"Friedreich's ataxia is a severe neurodegenerative disease caused by the decreased expression of frataxin, a mitochondrial protein that stimulates iron-sulfur (Fe-S) cluster biogenesis","5a7234352dc08e987e000007_002":"The diagnosis of butterfly glioma (glioblastoma multiforme) was made based on imaging characteristics and was further confirmed by biopsy findings. ","54e0c3e71388e8454a000013_005":"Orteronel (TAK-700) is an investigational, non-steroidal inhibitor of CYP17A1 with preferential inhibition of 17,20-lyase in NCI-H295 cells. ","56d1f790f22319765a000001_009":"However, resistance to the EGFR TKIs develops mostly secondary to T790M mutation in exon 20. ","550342a8f8aee20f27000002_001":"KD is particularly effective in myoclonic astatic epilepsy (MAE; Doose Syndrome) and West syndrome with 100% and 81.25% of the patients having a greater than 50% seizure reduction, respectively. ","5343fc1aaeec6fbd07000003_005":"The NF1 gene, mutated in NF1, is also commonly mutated in sporadic glioblastoma multiforme (GBM)","5a67b2f7b750ff445500000f_009":"PURPOSE To clarify the association between clinically defined simple stress urinary incontinence (SUI) symptoms and urodynamic SUI, we examined the relationship between Valsalva leak point pressure (VLPP) as measured by the Q-tip test and Stamey grade in simple female SUI.","5880dba9c872c95565000009_007":"Methods In this randomized, placebo-controlled, phase 3 trial, we evaluated the efficacy and safety of the selective CDK4\/6 inhibitor ribociclib combined with letrozole for first-line treatment in 668 postmenopausal women with HR-positive, HER2-negative recurrent or metastatic breast cancer who had not received previous systemic therapy for advanced disease. ","55032efde9bde69634000035_014":"METHODS: The aim of this study was to evaluate new composite efficacy-plus-tolerability endpoints based on a post-hoc analysis of patient-level data from a previous randomized, placebo-controlled trial of the calcitonin gene-related peptide (CGRP) receptor antagonist, telcagepant, and zolmitriptan in the acute treatment of migraine.","58a872bd38c171fb5b000002_001":"A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1.","5aa50086d6d6b54f7900000c_001":" Ubiquilins, a family of ubiquitin-binding proteins, are involved in all protein degradation pathways.","5519113b622b19434500000f_008":"This report, the first such analysis in North American patients, adds to the growing list of both novel pathogenic mutations associated with MWS, as well as other variants in the ZEB2 gene. In addition, we suggest an economical testing strategy.","514a0a57d24251bc05000051_008":"When measures are required to ensure adequate recovery of a patient's respiratory function and mental awareness, such as in patients with benzodiazepine toxicity, consideration of continuous-infusion flumazenil is warranted.","56cdf5315795f9a73e000046_002":"DCP2 activation by DCP1 occurs preferentially on the EDC4 scaffold, which may serve to couple DCP2 activation by DCP1 with 5'-to-3' mRNA degradation by XRN1 in human cells","56cdf5315795f9a73e000046_003":"XRN1 is a 5' \u2192 3' processive exoribonuclease that degrades mRNAs after they have been decapped","58cbb98c02b8c60953000034_077":"The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder.","51631154298dcd4e5100004e_010":"Bortezomib, a dipeptidyl boronic acid and potent inhibitor of the 26S proteasome, is remarkably effective against multiple myeloma (MM) but not against solid tumors.","5880b812c872c95565000006_002":"CONCLUSIONS: The dapivirine vaginal ring has a favourable safety and acceptability profile. If proven safe and effective in large-scale trials, it will be an important component of combination HIV prevention approaches for women.","56c048acef6e39474100001c_035":"Telomerase is reactivated in tumor cells, including CSCs, but has limited activity in normal tissues, providing potential for telomerase inhibition in anti-cancer therapy. ","54f35ad864850a5854000004_002":"A selective BACE inhibitor and the \u03b3-secretase inhibitor LY450139 (semagacestat) were used to inhibit respective secretase.","5506c3e38e1671127b00000a_052":"These results indicate that SEA0400 is the most potent and selective inhibitor of NCX, and suggest that the compound may exert protective effects on postischemic brain damage.","5880b073c872c95565000003_048":"Currently, two potential reversal agents for oral direct factor Xa inhibitors (andexanet alfa and ciraparantag) are at various stages of clinical development.","589630f378275d0c4a000007_004":"Ixazomib, the first oral proteasome inhibitor to be evaluated in multiple myeloma, exerts substantial anti-myeloma activity as a single agent and particularly in combination with immunomodulatory drugs and it may be an attractive option for maintenance therapy. ","54e0d1491388e8454a000014_005":"BACKGROUND: Evolocumab (AMG 145), a monoclonal antibody against proprotein convertase subtilisin\/kexin type 9 (PCSK9), significantly reduced low-density lipoprotein cholesterol (LDL-C) in phase 2 studies of 12 weeks' duration. ","5ace19420340b9f05800000a_032":"The Melanocortin-1 Receptor (MC1R) is a G-protein coupled receptor, which is responsible for production of the darker eumelanin pigment and the tanning response.","531464a6e3eabad021000014_056":"It is caused by XK gene defects and may include large deletions in the Xp21 region. ","56c1f01def6e394741000045_013":"Orteronel is a nonsteroidal, selective inhibitor of 17,20-lyase that was recently in phase 3 clinical development as a treatment for castration-resistant prostate cancer. ","58a2e5f760087bc10a000007_025":"The protein alpha-synuclein appears to be an important structural component of Lewy bodies, an observation spurred by the discovery of point mutations in the alpha-synuclein gene linked to rare cases of autosomal dominant PD.","5313058de3eabad02100000e_001":"Bertolotti's syndrome (BS), a form of lumbago in lumbosacral transitional vertebrae, is an important cause of low back pain in young patients. ","5547a01cf35db75526000005_005":"A combined analysis of thousands of gene trees supports a topology in which microsporidia is a sister group to all other sequenced fungi.","54e0c3e71388e8454a000013_006":"In summary, orteronel can suppress serum estradiol concentrations in hypophysectomized female rats and monkeys through selective inhibition of CYP17A1 activity, suggesting that orteronel might be effective for hormone-dependent breast cancers and estrogen-dependent diseases.","5880b812c872c95565000006_006":"Dapivirine, a nonnucleoside reverse transcriptase inhibitor, is in development as a microbicide for the protection of women against HIV infection.","56c1f01aef6e394741000043_001":"Pembrolizumab inhibits the programmed cell death 1 (PD-1) immune checkpoint and has antitumor activity in patients with advanced melanoma.","58cbb98c02b8c60953000034_018":"Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1).","56ae57350a360a5e4500000a_003":"Rather, as shown by kinetic, structural and in vivo approaches, the prime biological function of LeuRS editing is to prevent mis-incorporation of the non-standard amino acid norvaline","5a7234352dc08e987e000007_003":"All tumors demonstrated classical histopathological features of glioblastoma multiforme (GBM), including glial cell pseudopalisading, serpentine necrosis, microvascular proliferation as well as invasion of the corpus callosum by neoplastic astrocytes.","58eb9542eda5a57672000007_020":"One of these target proteins is coilin; a basic protein located in nuclear Cajal bodies","5a742d620384be9551000002_001":"STUDY OBJECTIVE: The aim of this study is to evaluate whether adding the item of \"apple body type\" to the STOP-BANG questionnaire enhances diagnostic performance of the questionnaire for detecting obstructive sleep apnea (OSA).","52b2e409f828ad283c00000e_003":"Antipsychotic recommendations were estimated using CDTI data in which schizophrenia was listed as the indication. RESULTS: First-generation antipsychotic (FGA) recommendations for adults with schizophrenia increased by 38% between 2005 and 2009, from 329 380 to 454 960 recommendations. There were notable increases in recommendations for chlorpromazine, loxapine, zuclopenthixol, and flupentixol.","571f33bd0fd6f91b68000003_008":"Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors","5a79d0b8faa1ab7d2e00000d_006":"During DNA replication, repetitive synthesis of discrete Okazaki fragments requires mechanisms that guarantee DNA polymerase, clamp, and primase proteins are present for every cycle.","5a68f965b750ff445500001a_003":"Although the presence of clue cells and amine-like odor in KOH test have relationship with Gardnerella vaginalis, these tests could also suggest the presence of these mycoplasmas.","56ffdc1ccf1c32585100000b_005":"Adenosine deaminases that act on RNA (ADARs) catalyze the adenosine-to-inosine (A-to-I) conversion, the most common type of RNA editing in higher eukaryotes. ","56b76f496e3f8eaf4c000002_003":"Spt-Ada-Gcn5-acetyltransferase (SAGA) complex is a transcription coactivator ","58a2ced760087bc10a000004_001":"Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR.","5ab147edfcf4565872000013_005":"The prevalence of tuberculosis infection among hospitalized patients in a pneumological department of an inner-city hospital was evaluated, using the intradermal tuberculin skin test (Mantoux technique). ","56c048acef6e39474100001c_027":"The telomerase inhibitor imetelstat depletes cancer stem cells in breast and pancreatic cancer cell lines.","54f1e031c409818c32000001_004":"Ecallantide (DX-88), a plasma kallikrein inhibitor for the treatment of hereditary angioedema and the prevention of blood loss in on-pump cardiothoracic surgery.","5880b073c872c95565000003_017":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.","58bca2f302b8c6095300000c_001":"Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome. ","53357193d6d3ac6a34000047_018":"A total of 140 patients were randomised to tofacitinib 1, 3, 5, 10 mg or placebo twice daily and the American College of Rheumatology 20% improvement criteria (ACR20) response rate at week 12, a primary end point, was significant for all tofacitinib treatment groups. Thus, an orally available tofacitinib in combination with MTX was efficacious and had a manageable safety profile. Tofacitinib at 5 and 10 mg twice a day appears suitable for further evaluation to optimise the treatment of RA.","588f8e9794c1512c50000005_007":"Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation","571e14fbbb137a4b0c000001_006":"Data from five randomized, placebo-controlled, multiple oral dose studies of empagliflozin in patients with type 2 diabetes mellitus (T2DM; N\u2009=\u2009974; 1-100\u2009mg q.d.; \u226412 weeks) were used to develop a population pharmacokinetic (PK) model for empagliflozin","5a6a3464b750ff4455000026_003":"We present MARS, a new heuristic method for improving Multiple circular sequence Alignment using Refined Sequences. MARS was implemented in the C++ programming language as a program to compute the rotations (cyclic shifts) required to best align a set of input sequences. Experimental results, using real and synthetic data, show that MARS improves the alignments, with respect to standard genetic measures and the inferred maximum-likelihood-based phylogenies, and outperforms state-of-the-art methods both in terms of accuracy and efficiency. Our results show, among others, that the average pairwise distance in the multiple sequence alignment of a dataset of widely-studied mitochondrial DNA sequences is reduced by around 5% when MARS is applied before a multiple sequence alignment is performed.","531464a6e3eabad021000014_059":"The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK.","571f5c150fd6f91b68000009_013":"This review will focus on the progress of potential treatment strategies for Friedreich ataxia that target the GAA expanded gene and seek to increase the level of frataxin message and protein.","5881f627713cbdfd3d000005_001":"DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C","56c1f01def6e394741000045_014":"Phase I\/II trial of orteronel (TAK-700)--an investigational 17,20-lyase inhibitor--in patients with metastatic castration-resistant prostate cancer.","56ae57350a360a5e4500000a_002":"The physiological target for LeuRS translational quality control is norvaline","5a6a3464b750ff4455000026_005":"We present MARS, a new heuristic method for improving Multiple circular sequence Alignment using Refined Sequences. MARS was implemented in the C++ programming language as a program to compute the rotations (cyclic shifts) required to best align a set of input sequences. Experimental results, using real and synthetic data, show that MARS improves the alignments, with respect to standard genetic measures and the inferred maximum-likelihood-based phylogenies, and outperforms state-of-the-art methods both in terms of accuracy and efficiency. Our results show, among others, that the average pairwise distance in the multiple sequence alignment of a dataset of widely-studied mitochondrial DNA sequences is reduced by around 5% when MARS is applied before a multiple sequence alignment is performed.","56e0447a51531f7e3300000b_011":"Viroids, subviral pathogens of plants, are composed of a single-stranded circular RNA of 246-399 nucleotides.","58bc8e7a02b8c60953000007_001":"Plantar fascia (PF) disorders commonly cause heel pain and disability","5a690487b750ff445500001f_001":"Epstein-Barr virus (EBV) is a highly prevalent virus, transmitted via saliva, which often causes asymptomatic infection in children but frequently results in infectious mononucleosis in adolescents. Heterophile antibody tests, including the Monospot test, are red cell or latex agglutination assays, which detect antired cell antibodies produced as part of a polyclonal antibody response occurring during EBV infection. ","5891b125621ea6ff7e00000e_003":"Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-na\u00efve patients with Gaucher disease.","54cb9c94f693c3b16b000005_002":"SR Ca-transport is mediated by the SR Ca-ATPase (SERCA2a) and its regulatory phosphoprotein, phospholamban (PLN). Dephosphorylated PLN is an inhibitor of SERCA2a and phosphorylation by protein kinase A (PKA) or calcium-calmodulin-dependent protein kinases (CAMKII) relieves these inhibitory effects.","53398855d6d3ac6a3400005b_001":"Bromodomains bind acetylated lysines, acting as readers of the histone-acetylation code","58d8e6818acda3452900000a_050":"Mutations in the gene coding for fibrillin-1, FBN1, are known to cause Marfan syndrome, and have been identified in almost all exons of FBN1.","5a871a6861bb38fb24000009_004":"This review summarises the latest research on the receptor tyrosine kinase ALK, and how this information can guide the management of patients with cancer that is ALK-positive.","56ed03862ac5ed1459000004_017":"(2010) elucidate the mechanism of action of MLN4924, a NEDD8-activating enzyme inhibitor. MLN4924 requires the activity of the enzyme to generate a NEDD8-adenylate analog that potently and selectively shuts down this posttranslational modification system.","56b710f276d8bf8d13000003_003":"JNCL results from mutations in CLN3 on chromosome 16p12.1.","56c1f01cef6e394741000044_001":"PURPOSE: This study aimed to determine a maximum tolerated dose (MTD) and recommended dose for disease-directed studies of necitumumab (IMC-11F8), a fully human IgG(1) monoclonal antibody directed at the epidermal growth factor receptor, and to characterize the safety profile, pharmacokinetics, preliminary antitumor activity, and immunogenicity of necitumumab.","56bc77a3ac7ad10019000015_016":"Of the multiple approaches that have been pursued, the RTS,S\/AS01 vaccine candidate represents the most developed and clinically validated malaria vaccine formulation","511a3573df1ebcce7d000018_013":"The human tissue kallikrein gene family is the largest contiguous family of proteases in the human genome, containing 15 genes.","53189656b166e2b80600001c_003":"alpha-Synuclein immunostaining was more specific than ubiquitin immunostaining in that it differentiated LB from globose tangles.","5710e131a5ed216440000001_017":"The sizes of the two chromosome XII homologues were very different: 2600 (L-type) and 1450 kb (S-type).","56b710f276d8bf8d13000003_008":"ln3 was recently identified as the gene defective in juvenile Batten disease, an inherited neurodegenerative disease of childhood","5891f9e549702f2e01000002_022":"BACKGROUND: The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS. ","5891f9e549702f2e01000002_018":"OBJECTIVE: In the present study, we tested the hypothesis that having migraine in middle age is related to late-life parkinsonism and a related disorder, restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED). ","54d907c84b1fd0d33c000008_006":"We studied the prednisone-sparing effect of mepolizumab, a monoclonal antibody against interleukin-5, in a rare subgroup of patients who have sputum eosinophilia and airway symptoms despite continued treatment with prednisone. ","58a5b1fe60087bc10a000024_003":"Using transfection of Ets-1 wildtype (WT) or its sumoylation deficient version (Ets-1 K15R\/K227R), as well as WT or mutant proteins of the SUMO pathway, we further demonstrated that the E2 SUMO-conjugating enzyme Ubc9 and a E3 SUMO ligase, PIASy, can enhance Ets-1 sumoylation, while a SUMO protease, SENP1, can desumoylate Ets-1","54df695b1388e8454a000004_009":"We administered a culturally corrected University of Pennsylvania Smell Identification Test (ccUPSIT) consisting of 25 odor items to 20 patients with 'Lubag' or X-linked dystonia-parkinsonism and 20 control subjects matched by sex, age, educational background, smoking history, and geographical origin. ","5540ca8a0083d1bf0e000003_003":"adult subventricular zone (SVZ) stem and progenitor cells express nestin","56c1f003ef6e394741000039_004":"Orexin receptor antagonism for treatment of insomnia: a randomized clinical trial of suvorexant.","56c048acef6e39474100001c_011":"PURPOSE: Imetelstat is a covalently-lipidated 13-mer thiophosphoramidate oligonucleotide that acts as a potent specific inhibitor of telomerase. ","572096c90fd6f91b6800000e_007":"In this family, missense mutation of c.224 T>A and missense mutation of c.1634G>A in GAN gene caused the phenotype of giant axonal neuropathy in the proband.","5891f9e549702f2e01000002_038":"BACKGROUND: The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS.","58d8e6818acda3452900000a_056":"Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems.","55180ef46487737b43000006_021":"The presence of a rash is also a sensitive indicator of gluten ingestion in dermatitis herpetiformis, and this was used to study whether patients with this disease could also tolerate oats.","589630f378275d0c4a000007_002":"Ixazomib (MLN9708-MLN2238), the second-generation proteasome inhibitor, selectivity and potency were similar to that of bortezomib, is currently being investigated in phase I studies.","58a57f9460087bc10a00001f_018":"MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II. ","5148691bd24251bc0500002d_002":"Prevention of JNK phosphorylation as a mechanism for rosiglitazone in neuroprotection after transient cerebral ischemia: activation of dual specificity phosphatase.","5a7237672dc08e987e000008_033":"In this article, we discuss the evidence addressing idarucizumab safety, tolerability and its efficacy for reversing effect of dabigatran..","56bc77a3ac7ad10019000015_018":"Safety and efficacy of the RTS,S\/AS01E candidate malaria vaccine given with expanded-programme-on-immunisation vaccines: 19 month follow-up of a randomised, open-label, phase 2 trial","51631154298dcd4e5100004e_015":"Bortezomib (BZM) is a proteasome inhibitor in clinical use for multiple myeloma. Here, we investigated whether the combination of these compounds would yield increased antitumor efficacy in multiple myeloma and glioblastoma cell lines in vitro and in vivo.","55376663bc4f83e82800000a_002":"Moreover, half of B-LBL patients are negative for CD45 (leucocyte common antigen, LCA), a widely used marker for the diagnosis of lymphoma, and a significant portion express CD99, a marker for Ewing's sarcoma (ES) or primitive neuroectodermal tumor (PNET)","5171438a8ed59a060a000007_001":"Our results further substantiate that gene scanning of all relevant RET exons is a powerful tool in the management of MEN2 patients,","56c04412ef6e39474100001b_015":"Novel therapy strategies include targeted and stroma-directed approaches. Antibodies targeting CS-1 (elotuzumab) and CD38 (daratumumab) in particular are currently undergoing advanced clinical phase II\/III trials.","54d907c84b1fd0d33c000008_009":"Mepolizumab is a fully humanized monoclonal antibody (IgG1\/\ufffd) targeting human interleukin-5 (IL-5), a key haematopoietin needed for eosinophil development and function.","56c048acef6e39474100001c_002":"The purpose of this study was to investigate the effects of a telomerase antagonistic oligonucleotide, imetelstat (GRN163L), on CSC and non-CSC populations of HER2(+) breast cancer cell lines.","56cae3eb5795f9a73e000021_001":"Crohn's disease has a bimodal age distribution of disease onset diagnosis. The peaks (20 and 50 years) may represent different phenotypes or different genetic and\/or environmental influences between younger- and older-onset individuals. ","589317e849702f2e01000005_005":"Pse-in-One: a web server for generating various modes of pseudo components of DNA, RNA, and protein sequences","58dd0dde8acda34529000027_010":"Marfan's syndrome is a heritable connective tissue disorder that has been associated with intracranial aneurysms.","56b330bb39c782df06000001_003":"Interpretation and communication of genomic data require flexible and quantitative tools to analyze and visualize diverse data types, and yet, a comprehensive tool to display all common genomic data types in publication quality figures does not exist to date. To address this shortcoming, we present Sushi.R, an R\/Bioconductor package that allows flexible integration of genomic visualizations into highly customizable, publication-ready, multi-panel figures from common genomic data formats including Browser Extensible Data (BED), bedGraph and Browser Extensible Data Paired-End (BEDPE). Sushi.R is open source and made publicly available through GitHub (https:\/\/github.com\/dphansti\/Sushi) and Bioconductor (http:\/\/bioconductor.org\/packages\/release\/bioc\/html\/Sushi.html).","56d1f790f22319765a000001_013":" The EGFR T790M mutation is generally considered to be the molecular genetic basis of acquired TKI resistance","5a68f448b750ff4455000018_010":"erythrasma is an uncommon vulvar infection best diagnosed by its fluorescence under the wood lamp this report shows that despite a negative wood lamp examination the diagnosis can be made histologically a 42 year old woman was referred to our clinic with a persistent candidal infection evaluation included a wood lamp examination wet mount and potassium hydroxide test of the affected skin all of which were negative a biopsy of the area demonstrated rods and filamentous organisms in the keratotic layer consistent with a corynebacterium minutissimum infection the patient was diagnosed as having erythrasma and she responded to oral erythromycin persistent vulvar diseases may be caused by erythrasma despite a negative wood lamp examination the diagnosis can be made by biopsy of the lesion.","5343fc1aaeec6fbd07000003_042":"ysine 1423 of neurofibromin (neurofibromatosis type I gene product [NF1]) plays a crucial role in the function of NF1.","58861d413b87a8a738000002_003":"After correcting for multiple comparisons, no significant effects were observed on any of the outcomes among the NHW sample; however, within the NHB sample, significant gene \u00d7 environment (G \u00d7 E) interactions were observed for lifetime PTSD (P = .0029) and PTSD symptom severity (P = .0009). In each case, the APOE \u03b54 allele had no effect on the outcomes when combat exposure was low; however, when combat exposure was high, an additive effect was observed such that \u03b54 homozygotes exposed to high levels of combat reported the highest rates of PTSD (92%) and the worst symptom severity scores on the Davidson Trauma Scale (M = 79.5)","58a32efe60087bc10a000013_033":"Rapid detection of methicillin-resistant Staphylococcus aureus (MRSA) in diverse clinical specimens by the BD GeneOhm MRSA assay and comparison with culture.","5a6f853ab750ff4455000055_007":"CONCLUSIONS Clinicians seeing patients in a setting similar to ours (specialized diabetic foot unit with a high prevalence of osteomyelitis) can confidently diagnose diabetic foot osteomyelitis when either the probe-to-bone test or a plain X-ray, or especially both, are positive.","58cbb98c02b8c60953000034_047":"Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1). ","5a6f853ab750ff4455000055_004":"Magnetic resonance imaging (MRI) has a higher sensitivity and specificity (90% and 79%) than plain radiography (54% and 68%) for diagnosing diabetic foot osteomyelitis. MRI performs somewhat better than any of several common tests--probe to bone (PTB), erythrocyte sedimentation rate (ESR)>70 mm\/hr, C-reactive protein (CRP)>14 mg\/L, procalcitonin>0.3 ng\/mL, and ulcer size>2 cm\u00b2--although PTB has the highest specificity of any test and is commonly used together with MRI.","58cdb41302b8c60953000042_021":"The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility.","550f0e4c6a8cde6b72000003_016":"Double homeobox 4 (DUX4) is a candidate disease gene for facioscapulohumeral dystrophy (FSHD), one of the most common muscular dystrophies characterized by progressive skeletal muscle degeneration. ","54e0c3e71388e8454a000013_012":"Orteronel (TAK-700) is a novel and selective inhibitor of CYP17A1, which is expressed in testicular, adrenal and prostate tumor tissues","587f7a69d8d850a152000001_002":"We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models. Moreover we describe how fixed-length approximate string matching is applied to solve real problems by incorporating libFLASM into established applications for multiple circular sequence alignment as well as single and structured motif extraction. Specifically, we describe how it can be used to improve the accuracy of multiple circular sequence alignment in terms of the inferred likelihood-based phylogenies; and we also describe how it is used to efficiently find motifs in molecular sequences representing regulatory or functional regions. The comparison of the performance of the library to other algorithms show how it is competitive, especially with increasing distance thresholds.","5a774fdcfaa1ab7d2e000008_006":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","550e828c71445a662f000002_015":"Canakinumab and gevokizumab are highly specific IL-1\u03b2 monoclonal antibodies","54f9c40ddd3fc62544000001_006":"NFAT (nuclear factor of activated T cell) proteins are expressed in most immune system cells and regulate the transcription of cytokine genes critical for the immune response. The activity of NFAT proteins is tightly regulated by the Ca(2+)\/calmodulin-dependent protein phosphatase 2B\/calcineurin (CaN). Dephosphorylation of NFAT by CaN is required for NFAT nuclear localization. ","56c865d25795f9a73e000016_001":"GKT136901, a specific inhibitor of Nox1- and Nox4-containing NADPH oxidase activity, attenuated ROS generation and atherosclerosis and decreased CD44 and HA expression in atherosclerotic lesions. ","5ac725250340b9f058000006_005":"In addition, according to recent studies, circular RNA-7 (ciRS-7) acts as a sponge of miR-7 and thus inhibits its activity. Numerous evidences have confirmed expression of miR-7 is dysregulated in cancer tissues, however, whether ciRS-7 invovled in oncogenesis by acting as sponge of miR-7 remains unclear. Most recently, a study reported ciRS-7 acted as an oncogene in hepatocellular carcinoma through targeting miR-7 expression. This suggest ciRS-7\/ miR-7 axis affects oncogenesis, and it provides a new perspective on the mechanisms of decreased miR-7 expression in cancer tissues. ","54cb9c94f693c3b16b000005_022":"The sarco(endo)plasmic reticulum Ca(2+) transport adenosine triphosphatase (SERCA2a) and its regulator phospholamban (PLN) have a central role in modulating Ca(2+) homeostasis and, therefore, cardiac function.","58cdb41302b8c60953000042_022":"The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterised by joint hypermobility, involvement of skin and tissue fragility","58a57f9460087bc10a00001f_041":"For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and SOX10 genes are responsible for Waardenburg syndrome type IV.","587e2300fc7e8dd84f000004_010":"MethPed: an R package for the identification of pediatric brain tumor subtypes.","56b1f4300a360a5e4500001b_003":"The pentapeptide LQVVR plays a pivotal role in human cystatin C fibrillization.","532dcfc9d6d3ac6a34000021_001":"C-terminal SET domain that catalyzes methylation of histone H3","56f961b3cf1c325851000003_003":"Ranasmurfin, a previously uncharacterized approximately 13 kDa blue protein found in the nests of the frog Polypedates leucomystax, has been purified and crystallized. The crystals are an intense blue colour ","5a68f965b750ff445500001a_002":"Bacterial vaginosis is the most common cause of vaginitis, affecting over 3 million women in the United States annually. Depopulation of lactobacilli from the normal vaginal flora and overgrowth of Gardnerella vaginalis and other anaerobic species are the presumed etiology. To date, no scientific evidence shows that bacterial vaginosis is a sexually transmitted disease. Malodorous vaginal discharge is the most common symptom. Differential diagnoses include trichomoniasis, moniliasis, and allergic or chemical dermatitis. The diagnosis is confirmed when at least three of the following four findings are present (Amsel's criteria): 1) thin, homogenous discharge, 2) pH greater than 4.5, 3) positive amine test, and 4) presence of clue cells. ","56c3184050c68dd416000003_001":"These are the preliminary data of an open multicenter trial of antihypertensive treatment with isradipine as monotherapy (dose, 4.55 +\/- 0.56 mg twice daily; n = 11) or isradipine (7.5 +\/- 0.63 mg twice daily) in combination with bopindolol (1.16 +\/- 0.12 mg once daily; n = 30) administered for 3 years to patients with essential hypertension (WHO classification I or II). ","550e828c71445a662f000002_011":"XOMA is developing gevokizumab (XOMA-052), an IgG2 humanized mAb against human IL-1\u03b2, for the potential treatment of these diseases. Gevokizumab has a high affinity for IL-1\u03b2 and a long t1\/2, which would allow for once-monthly dosing and offer a considerable advantage for patients over agents requiring more frequent dosing.","58a32edd60087bc10a000012_005":"The Contrave Obesity Research I (COR-I) study assessed the effect of such treatment on bodyweight in overweight and obese participants.Men and women aged 18-65 years who had a body-mass index (BMI) of 30-45 kg\/m(2) and uncomplicated obesity or BMI 27-45 kg\/m(2) with dyslipidaemia or hypertension were eligible for enrolment in this randomised, double-blind, placebo-controlled, phase 3 trial undertaken at 34 sites in the USA.","51387022bee46bd34c000002_005":"The majority of tetrapod-specific UCEs are noncoding and associated with genes involved in regulation of transcription and development.","5a67b2f7b750ff445500000f_005":"MATERIALS AND METHODS: One hundred patients suffering from clinical and\/or urodynamic stress urinary incontinence (SUI) were randomized into biological material TOT (PELVILACE\u00ae TO) or synthetic material TOT (ALIGN\u00aeTO Urethral Support System) groups. Preoperative and at 1 year postoperative urogynecological symptom assessment, 1-h pad test, 4-day bladder diary, stress test, Q-tip test, and urodynamics were performed. ","5353aedb288f4dae47000006_004":"X inactive-specific transcript (XIST) gene in humans","58dd0dde8acda34529000027_011":"Marfan's syndrome is an inherited disorder of connective tissue associated with characteristic abnormalities of the skeletal, ocular, and cardiovascular systems.","5547a01cf35db75526000005_004":"Phylogenomics supports microsporidia as the earliest diverging clade of sequenced fungi.","5717dbfe7de986d80d000001_001":"dynamin-related protein 1 (Drp1), a GTPase that mediates mitochondrial fission,","54e0c3e71388e8454a000013_007":"Development and validation of an RP-HPLC method for the quantitation of Orteronel (TAK-700), a CYP17A1 enzyme inhibitor, in rat plasma and its application to a pharmacokinetic study.","5a6e24a5b750ff445500003c_006":"the recount2 resource is composed of over 70 000 uniformly processed human rna seq samples spanning tcga and sra including gtex the processed data can be accessed via the recount2 website and the bioconductor package this workflow explains in detail how to use the package and how to integrate it with other bioconductor packages for several analyses that can be carried out with the recount2 resource in particular we describe how the coverage count matrices were computed in recount2 as well as different ways of obtaining public metadata which can facilitate downstream analyses step by step directions show how to do a gene level differential expression analysis visualize base level genome coverage data and perform an analyses at multiple feature levels this workflow thus provides further information to understand the data in recount2 and a compendium of r code to use the data.","572096c90fd6f91b6800000e_014":"We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing.","56e0447a51531f7e3300000b_007":"Contrary to earlier beliefs, viruses are not the smallest causative agents of infectious diseases. Single-stranded RNAs as small as 246 nucleotides exist in certain higher plants and cause more than a dozen crop diseases. These RNAs have been termed viroids.","58e9e7aa3e8b6dc87c00000d_017":"While several ADAR enzymes are present in mice, the presence of a single ADAR in Drosophila, combined with the diverse genetic toolkit available to researchers and the wide range of ADAR target mRNAs identified to date, make Drosophila an ideal organism to study the genetic basis of A-to-I RNA editing.","550f0e4c6a8cde6b72000003_022":"We mainly focus on DUX4 isoform expression because the expression of DUX4 has been confirmed in both FSHD cells and biopsies by several laboratories.","54cb9c94f693c3b16b000005_011":"Phospholamban (PLB) is a major target of the beta-adrenergic cascade in the heart, and functions as an endogenous inhibitor of Ca-ATPase transport activity.","511a3573df1ebcce7d000018_006":"Human kallikreins are a cluster of 15 serine protease genes located in the chromosomal band 19q13.4, a non-randomly rearranged region in many solid tumors, including pancreatic cancer.","52bf19c503868f1b06000001_001":"autosomal dominant FSHD1","5547a01cf35db75526000005_006":"Altogether, our data strongly support a scenario in which microsporidia is the earliest-diverging clade of sequenced fungi.","5547a01cf35db75526000005_015":"CONCLUSION\/SIGNIFICANCE: The unique genomic hallmarks between microsporidia and fungi are independent of sequence based phylogenetic comparisons and further contribute to define the borders of the fungal kingdom and support the classification of microsporidia as unusual derived fungi.","58bca2f302b8c6095300000c_003":"Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls","56cf36263975bb303a000007_001":"Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.","5171438a8ed59a060a000007_014":"Medullary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The distinction between true sporadic MTC and a new mutation familial case is important for future clinical management of both the patient and family. The susceptibility gene for MEN 2 is the RET proto-oncogene.","52bf19c503868f1b06000001_003":" In one family together with prenatal diagnosis founder mutation in FSHD A1 gene was detected, according to the autosomal dominant (AD) inheritance.","54edf81f94afd61504000014_004":"Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI\/SNF complex.","5890e163621ea6ff7e000004_005":"OBJECTIVE: Evaluate efficacy and safety of tanezumab, a humanized monoclonal antibody against nerve growth factor, in neuropathic pain.","55475dc2f35db75526000001_012":"Botulism is caused by botulinum neurotoxin produced by the bacterium Clostridium botulinum.","54df695b1388e8454a000004_015":"Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. ","5891c90949702f2e01000001_015":"In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","5a76179d83b0d9ea66000021_002":"Whole-genome sequencing (WGS) data are being generated at an unprecedented rate. Analysis of WGS data requires a flexible data format to store the different types of DNA variation. Variant call format (VCF) is a general text-based format developed to store variant genotypes and their annotations. However, VCF files are large and data retrieval is relatively slow. Here we introduce a new WGS variant data format implemented in the R\/Bioconductor package 'SeqArray' for storing variant calls in an array-oriented manner which provides the same capabilities as VCF, but with multiple high compression options and data access using high-performance parallel computing.Results: Benchmarks using 1000 Genomes Phase 3 data show file sizes are 14.0\u2009Gb (VCF), 12.3\u2009Gb (BCF, binary VCF), 3.5\u2009Gb (BGT) and 2.6\u2009Gb (SeqArray) respectively. Reading genotypes in the SeqArray package are two to three times faster compared with the htslib C library using BCF files. For the allele frequency calculation, the implementation in the SeqArray package is over 5 times faster than PLINK v1.9 with VCF and BCF files, and over 16 times faster than vcftools. When used in conjunction with R\/Bioconductor packages, the SeqArray package provides users a flexible, feature-rich, high-performance programming environment for analysis of WGS variant data.","58e9e7aa3e8b6dc87c00000d_008":"The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster","58d8e6818acda3452900000a_049":"Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders.","55054f8af73303d458000002_013":"We report a novel method for the chromatographic separation and measurement of stable carbon isotope ratios (delta(13)C) of individual amino acids in hair proteins and bone collagen using the LC-IsoLink system, which interfaces liquid chromatography (LC) with isotope ratio mass spectrometry (IRMS).","5519113b622b19434500000f_004":"All typical cases result from haploinsufficiency of the ZEB2 (also known as ZFHX1B or SIP-1) gene, with over 100 distinct mutations now described.","5506c3e38e1671127b00000a_022":"In view of the previous observation that NO stimulates the activity of the Na(+)\/Ca(2+) exchanger (NCX), this study examines the involvement of NCX in cytotoxicity. The specific NCX inhibitor SEA0400 blocked SNP-induced phosphorylation of ERK, JNK and p38 MAPK, and decrease in cell viability. ","550618f58e1671127b000007_006":"Inhibitor 1 (I-1) is a protein inhibitor of protein phosphatase 1 (PP1), the predominating Ser\/Thr phosphatase in the heart","56d3346cf22319765a000008_001":"Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs. ","58dd0dde8acda34529000027_004":"Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGF\u03b2 signaling","56ae6e650a360a5e4500000e_008":"We report the development of OikoBase (http:\/\/oikoarrays.biology.uiowa.edu\/Oiko\/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates","53357ca0d6d3ac6a3400004b_003":"Rigel Pharmaceuticals Inc is developing fostamatinib, a prodrug of the spleen tyrosine kinase (Syk) inhibitor R-406, for the potential treatment of autoimmune diseases such as rheumatoid arthritis (RA), idiopathic thrombocytopenic purpura (ITP) and B-cell lymphomas.","52ee9f55c8da898910000009_002":"The genetic forms of LQTS include Romano-Ward syndrome (RWS), which is characterized by isolated LQTS and an autosomal dominant pattern of inheritance, and syndromes with LQTS in association with other conditions.","55475dc2f35db75526000001_002":"Cattle botulism is a fatal intoxication caused by botulinum neurotoxins (BoNTs) produced by Clostridium botulinum serotypes C and D","56bc751eac7ad10019000013_003":"Bazex syndrome (acrokeratosis paraneoplastica): persistence of cutaneous lesions after successful treatment of an associated oropharyngeal neoplasm.","5a7d5ce0faa1ab7d2e00001b_002":"In humans, elevated GDF15 correlates with weight loss, and the administration of GDF15 to mice with obesity reduces body weight, at least in part, by decreasing food intake. The mechanisms through which GDF15 reduces body weight remain poorly understood, because the cognate receptor for GDF15 is unknown. Here we show that recombinant GDF15 induces weight loss in mice fed a high-fat diet and in nonhuman primates with spontaneous obesity.","5a7237672dc08e987e000008_026":"In 2015, the humanized monoclonal antibody fragment idarucizumab was approved for rapid (minutes) reversal of anticoagulant effects of dabigatran.","53130a77e3eabad02100000f_001":"Statistical significance was achieved, despite the relatively small number of patients with BRAF and MEK1 mutations reported here, for polyhydramnios, growth hormone deficiency and the presence of more than one papilloma, which were less common in CFC compared to HRAS mutation positive patients. ","5891f9e549702f2e01000002_001":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is a common movement disorder characterised by an uncontrollable urge to move because of uncomfortable, sometimes painful sensations in the legs with a diurnal variation and a release with movement. ","58a6db8660087bc10a00002c_004":"Saccharomyces cerevisiae Swr1, a Swi2\/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z.","56c1f02aef6e39474100004b_004":"A phase 1 study of a chimeric monoclonal antibody against interleukin-6, siltuximab, combined with docetaxel in patients with metastatic castration-resistant prostate cancer.","55421ee7ccca0ce74b000002_017":"The tumor suppressor protein p53 is often referred to as the guardian of the genome.","5543829fed966d112c000009_003":"Alfalfa (Medicago sativa L.) cell suspension cultures accumulated high concentrations of the pterocarpan phytoalexin medicarpin, reaching a maximum within 24 hours after exposure to an elicitor preparation from cell walls of the phytopathogenic fungus Colletotrichum lindemuthianum.","56d1f790f22319765a000001_002":"Nearly one half of all cases of acquired resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) for non-small-cell lung cancer (NSCLC) are due to the T790M mutation in EGFR exon 20. ","516e7fda298dcd4e51000081_007":"SAM is the main methyl group donor for methyltransferases to modify DNA, RNA, protein, metabolites, or phospholipid target substrates.","58a5b1fe60087bc10a000024_005":"SUMO-conjugating enzyme E2 UBC9 mediates viral immediate-early protein SUMOylation in crayfish to facilitate reproduction of white spot syndrome virus.","5518e7da622b194345000004_010":" c-Jun N-terminal kinase (JNK) phosphorylation, c-Jun phosphorylation","55421ee7ccca0ce74b000002_040":"The p53 gene is involved in genome stability and thus is referred to as \"the guardian of the genome.\" To better understand the antigenotoxic effects of p53 in ultraviolet light B (UVB)-induced mutagenesis, mutations were measured in the epidermis of UVB-irradiated p53(+\/+) and p53(-\/-) gpt delta mice","5543829fed966d112c000009_001":"Medicarpin, the major phytoalexin in alfalfa, is synthesized via the isoflavonoid branch of phenylpropanoid metabolism.","588f9950ed9bbee70d000002_008":"We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.","58a2df9c60087bc10a000006_001":"Hemoglobinopathies are very common in Greece, the incidence of beta-thalassemia trait being 8% and that of sickle cell trait ranging from 1 to 32% in various districts.","58bca2f302b8c6095300000c_015":"Turner's syndrome is defined as a congenital disease determining by quantitative and\/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism","58cdb41302b8c60953000042_027":"Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility","56ed0ffe2ac5ed1459000008_007":"Sixty patients with relapsed and\/or refractory multiple myeloma were enrolled on this phase 1 trial to evaluate safety and tolerability and determine the maximum tolerated dose (MTD) of single-agent, oral ixazomib given weekly for 3 of 4 weeks.","5a679e8cb750ff4455000006_008":"The Milwaukee Protocol has proved to be ineffective for rabies and should no longer be used.","5506c3e38e1671127b00000a_031":"We investigated the expression of Na(+)\/Ca(2+) exchanger (NCX) and the functional role of NCX in retinal damage by using NCX1-heterozygous deficient mice (NCX1(+\/-)) and SEA0400 (2-[4-[(2,5-difluorophenyl)methoxy] phenoxy]-5-ethoxyaniline), a selective NCX inhibitor in vivo. ","5a885daa61bb38fb24000018_001":"DEAD box proteins are putative RNA helicases that have been implicated in cellular processes involving alteration of RNA secondary structure, such as translation initiation and splicing. These proteins share eight conserved amino acid motifs, including Asp(D)-Glu-(E)-Ala(A)-Asp(D) which is part of a more extended motif. ","5a895f51fcd1d6a10c000004_008":"we recently used in situ hi c to create kilobase resolution 3d maps of mammalian genomes here we combine these maps with new hi c microscopy and genome editing experiments to study the physical structure of chromatin fibers domains and loops we find that the observed contact domains are inconsistent with the equilibrium state for an ordinary condensed polymer combining hi c data and novel mathematical theorems we show that contact domains are also not consistent with a fractal globule instead we use physical simulations to study two models of genome folding in one intermonomer attraction during polymer condensation leads to formation of an anisotropic tension globule in the other ccctc binding factor ctcf and cohesin act together to extrude unknotted loops during interphase both models are consistent with the observed contact domains and with the observation that contact domains tend to form inside loops however the extrusion model explains a far wider array of observations such as why loops tend not to overlap and why the ctcf binding motifs at pairs of loop anchors lie in the convergent orientation finally we perform 13 genome editing experiments examining the effect of altering ctcf binding sites on chromatin folding the convergent rule correctly predicts the affected loops in every case moreover the extrusion model accurately predicts in silico the 3d maps resulting from each experiment using only the location of ctcf binding sites in the wt thus we show that it is possible to disrupt restore and move loops and domains using targeted mutations as small as a single base pair.","551fd9c06b348bb82c000012_010":"CONCLUSIONS: The simpler FAST scale could replace the more complex ROSIER for the initial assessment of patients with suspected acute stroke in the emergency department.","56c1f02aef6e39474100004b_002":"Blockade of interleukin-6 signalling with siltuximab enhances melphalan cytotoxicity in preclinical models of multiple myeloma.","54f9b74306d9727f76000004_019":" In these conditions, JTV519 (K201), a 1,4-benzothiazepine derivative and multi-channel blocker, stabilizes RyR2s and decrease SR Ca?\u207a leak.","51387022bee46bd34c000002_007":"In 74% of cases, we were able to assign a specific set of paralogous genes with annotation relating to transcriptional regulation and\/or development to each family","54db62a3034aea571d000001_010":"Three different SERCA genes were identified-SERCA1, SERCA2, and SERCA3. SERCA is mainly represented by the SERCA2a isoform in the heart.","55032efde9bde69634000035_016":"Characterization of the calcitonin gene-related peptide receptor antagonist telcagepant (MK-0974) in human isolated coronary arteries.","589d965a78275d0c4a000049_002":"In addition, obvious enrichments of three histone modifications (H2BK5me1, H3K36me3 and H4K20me1) as well as RNA Polymerase II (RNAPII) were observed on pre-miRNA genomic sequences corresponding to the active-promoter miRNAs and expressed miRNAs","5149f494d24251bc0500004c_005":"Experts have suggested that, as part of a comprehensive overdose prevention strategy, naloxone should be provided to heroin users for peer administration after an overdose. ","533ea8fcc45e133714000010_002":"3'-UTR mRNA stem-loop termed SElenoCysteine Insertion Sequence (SECIS)","5717dbfe7de986d80d000001_012":"In this study the role of the mitochondrial fission protein, Drp1 during Shigella infection in HeLa cells was examined","589480b47d9090f353000007_007":"Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results. webSDA currently has three modules: SDA docking to generate structures of the diffusional encounter complexes of two macromolecules, SDA association to calculate bimolecular diffusional association rate constants, and SDA multiple molecules to simulate the diffusive motion of hundreds of macromolecules.","58a5a51060087bc10a000021_003":"NOX1, an NADPH oxidase homologue that is most abundantly expressed in colon epithelial cells, requires the regulatory subunits NOXO1 (NOX organizing protein 1) and NOXA1 (NOX activating protein 1), as well as the flavocytochrome component p22(phox) for maximal activity.","530f900ee3eabad021000003_016":"Importantly, these patients have elevated serum levels of free T(3), low to below normal serum levels of free T(4), and levels of thyroid stimulating hormone that are within the normal range.","58bfd8e902b8c60953000018_002":"Necrobiosis lipoidica is a granulomatous skin disease of unknown etiology, associated mainly with diabetes mellitus.","5abbe429fcf456587200001c_002":"BACKGROUND: apixaban (BMS-562247) (Eliquis(\u00ae)) is a novel, orally active, selective, direct, reversible inhibitor of the coagulation factor Xa (FXa).","52eea4dcc8da89891000000c_002":"Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation.","55376f19bc4f83e82800000c_004":"Medulloblastoma (MDB) is the most common malignant cerebellar tumor in children.","5324a8ac9b2d7acc7e000018_042":"CML) is characterized by the presence of a constitutively active Abl kinase, which is the product of a chimeric BCR-ABL gene, caused by the genetic translocation known as the Philadelphia chromosome. Imatinib, a selective inhibitor of the Bcr-Abl tyrosine kinase, ","5ace19420340b9f05800000a_033":"Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.","53357193d6d3ac6a34000047_007":"Tofacitinib is an oral janus kinase (JAK) inhibitor that inhibits JAK family kinase members, in particular JAK1 and JAK3, achieving a broad limitation of inflammation by interfering with several cytokine receptors. It first proved its efficacy as an immunosuppressive regimen after renal transplantation, and was recently approved by the FDA for rheumatoid arthritis. ","530cf4e0c8a0b4a00c000006_002":"The most common cause of this, hypertrophic cardiomyopathy (HCM), is a genetic disorder responsible for more than a third of cases and is manageable.","56b7083376d8bf8d13000001_005":"Panama disease of banana, caused by the fungus Fusarium oxysporum f. sp. cubense, is a serious constraint both to the commercial production of banana and cultivation for subsistence agriculture","5ace19420340b9f05800000a_047":"A multiplex PCR and a multiplex single base extension protocol were established for genotyping six exonic MC1R variations highly penetrant for red hair (R), four exonic MC1R variations weakly penetrant for red hair (r), two frameshift variations highly penetrant for red hair (R) and three variations in the promoter region.","52fe58f82059c6d71c00007a_009":"multiple orc\/cdc6-associated replication origins in haloarchaeal genomes","589d965a78275d0c4a000049_015":"In plant, primary transcripts (pri-miRNAs) transcribed from miRNA genes by RNA polymerase II are first processed into stem-loop pre-miRNAs and further chopped into \u223c21\u2009nt long miRNAs by RNase III-like enzyme DCL1.","5314bd7ddae131f847000006_002":"Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). ","587e2300fc7e8dd84f000004_013":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier.","5353aedb288f4dae47000006_032":"expression of the Xist (X inactive specific transcript) gene correlates with X inactivation ","55180ef46487737b43000006_007":" These findings may relate to the fact, that dermatitis herpetiformis is associated with gluten sensitive enteropathy, coeliac disease, which is characterised by IgA type autoantibodies to a closely related enzyme, tissue transglutaminase.","58f4b1a170f9fc6f0f000010_001":"liver transplantation improves patients' short-term post liver transplantation survival in Amanita phalloides poisoning","554356d0ed966d112c000005_004":"We demonstrate that the Mahalanobis distance is better than the delta-distance at measuring genomic signature differences between plasmids and chromosomes of potential hosts.","5895bc397d9090f35300000b_013":"Mutations in the SLC9A6 gene cause Christianson syndrome in boys. ","56ed03862ac5ed1459000004_005":"Treatment-emergent mutations in NAE\u03b2 confer resistance to the NEDD8-activating enzyme inhibitor MLN4924.","56c048acef6e39474100001c_023":"Imetelstat inhibited telomerase activity in both subpopulations. Moreover, imetelstat alone and in combination with trastuzumab reduced the CSC fraction and inhibited CSC functional ability, as shown by decreased mammosphere counts and invasive potential. ","58f3ca5c70f9fc6f0f00000d_005":"usarium graminearum is a toxigenic fungal pathogen that causes Fusarium head blight (FHB) and crown rot on cereal crops worldwide.","55421ee7ccca0ce74b000002_012":"This is the first report that demonstrates the mechanism of action of the MAR-binding protein SMAR1 in modulating the activity of p53, often referred to as the \"guardian of the genome.","56ed03862ac5ed1459000004_011":"The NEDD8-activating enzyme inhibitor, MLN4924, cooperates with TRAIL to augment apoptosis through facilitating c-FLIP degradation in head and neck cancer cells.","57136a7e1174fb1755000006_005":"The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers","54e1bdacae9738404b000009_006":"Riociguat (Adempas(\u00ae)), an oral first-in-class soluble guanylate cyclase (sGC) stimulator, is under global development by Bayer Healthcare Pharmaceuticals Inc. for the treatment of adult patients with inoperable or chronic\/persistent chronic thromboembolic pulmonary hypertension (CTEPH) and for the treatment of adult patients with pulmonary arterial hypertension (PAH). ","5545186cbf90a13052000002_008":"TCR can preferentially remove the bulky DNA lesions located at the transcribed strand of a transcriptional active gene more rapidly than those at the untranscribed strand or overall genomic DNA.","55032e65e9bde69634000034_020":"The purpose of this study was to retrospectively evaluate the cognitive and electroclinical characteristics of right cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome [DDMS])","530cefaaad0bf1360c000012_019":"Restless leg syndrome (RLS) and periodic limb movement disorder (PLMD) are considered to be a continuum of a neurological sleep disorder associated with abnormal iron metabolism or deficiency. I describe a case of RLS and PLMD in a cystic fibrosis patient with iron deficiency from chronic hemoptysis. This is the first case that reports RLS and PLMD manifesting from iron deficiency caused by chronic hemoptysis in advanced cystic fibrosis lung disease.","5314bd7ddae131f847000006_001":"This disease is caused by a defective insulin receptor and features abnormal glucose metabolism and retarded intrauterine and postnatal growth.","5a6e42f1b750ff4455000046_005":"Familial Mediterranean fever (FMF) has been traced to mutations in the MEFV gene.","5a4e50b242878bf97d000001_007":"Eukaryotic topoisomerase II (topo II) is the essential decatenase of newly replicated chromosomes and the main relaxase of nucleosomal DNA. ","5717dbfe7de986d80d000001_019":"Abnormal interaction between the mitochondrial fission protein Drp1 and hyperphosphorylated tau in Alzheimer's disease neurons: implications for mitochondrial dysfunction and neuronal damage.","5543829fed966d112c000009_004":"Medicarpin, the major phytoalexin in alfalfa, is synthesized via the isoflavonoid branch of phenylpropanoid metabolism","5a742d620384be9551000002_005":"BACKGROUND: An accurate, clinical screening tool for obstructive sleep apnea (OSA) that identifies patients for further diagnostic testing would assist in the diagnosis of this comorbidity. One example, the STOP-BANG questionnaire (SBQ), has been validated as a screening tool with high sensitivity.","5519113b622b19434500000f_011":"According to the gene analysis using white blood cells, they had nonsense mutations in ZFHX1B, R695X and Q433X, respectively.","514a0a57d24251bc05000051_003":"Flumazenil was administered to 80 patients in 4504 BZD-related enquiries, 68 of whom did not have ventilatory failure or had recognised contraindications to flumazenil.","58e75d483e8b6dc87c000005_001":"In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. ","5545186cbf90a13052000002_016":"Transcription-coupled repair (TCR) is a subpathway of nucleotide excision repair (NER) that acts specifically on lesions in the transcribed strand of expressed genes.","58a2e5f760087bc10a000007_022":"Lewy bodies comprise of aggregated intracellular vesicles and proteins and \u03b1-synuclein is reported to be a major protein component.","5343fc1aaeec6fbd07000003_031":"It is caused by a wide spectrum of mutations affecting the NF1 gene. ","52b2e409f828ad283c00000e_004":"Loxapine has been prescribed in France since 1980. Its pharmacological profile is close to that of clozapine: it has dopamine (D2), histamine (H1), serotonin (5-HT2) and adrenergic (alpha 1)-blocking activities. Its best indication seems to be paranoid schizophrenia, although some data suggest bipolar action.","55032e65e9bde69634000034_013":"Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. ","51bdd9c2047fa84d1d000002_001":"Once there, substrate proteins bind to the lysosome-associated membrane protein type 2 isoform A (LAMP2A), inducing assembly of this receptor protein into a higher molecular weight protein complex that is used by the substrate proteins to reach the lysosomal lumen. ","571f33bd0fd6f91b68000003_004":"The NSD1 gene was recently found to be responsible for Sotos syndrome, and more than 150 patients with NSD1 alterations have been identified.","5ad6e431133db5eb7800000e_003":"Basque students (174 males and 218 females), using the Ishihara test cards (1987).","56c1f01def6e394741000045_008":"A phase 1 multiple-dose study of orteronel in Japanese patients with castration-resistant prostate cancer.","5a68f005b750ff4455000016_011":"Treatment of suicidal and deliberate self-harming patients with borderline personality disorder using dialectical behavioral therapy: the patients' and the therapists' perceptions.","58cbb98c02b8c60953000034_076":"The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder.","5a6f853ab750ff4455000055_013":"Probe-to-bone test and simple X-rays are both standard tests for the diagnosis of diabetic foot osteomyelitis.","58eb99f3eda5a57672000009_009":"cerevisiae replication are conserved: Centromeres replicate early, whereas telomeres replicate late, we found that replication origins both in L.","5324a8ac9b2d7acc7e000018_007":"matinib was the first BCR-ABL tyrosine kinase inhibitor","56c8f4615795f9a73e00001a_004":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species.","550f0e4c6a8cde6b72000003_017":"Double homeobox 4 (DUX4) is a candidate disease gene for facioscapulohumeral dystrophy (FSHD), one of the most common muscular dystrophies characterized by progressive skeletal muscle degeneration. ","5880b073c872c95565000003_008":"Andexanet alfa is a specific reversal agent for Factor Xa inhibitors.","56c1f020ef6e394741000047_016":"Our findings revealed no significant difference concerning surgical outcome with respect to seizure frequency for the histologic subtypes of ILAE focal cortical dysplasia type I (Ib vs Ic) or Palmini et al focal cortical dysplasia type I (IA vs IB).","52eea4dcc8da89891000000c_003":"Jervell and Lange-Nielsen syndrome (MIM 220400; JLNS), is a rare form of profound congenital deafness combined with syncopal attacks and sudden death due to prolonged QTc; it is an autosomal recessive trait. ","550f0e4c6a8cde6b72000003_005":"DUX4, the primary candidate for FSHD pathogenesis, is upregulated over ten-fold in FSHD myoblasts and myotubes with short telomeres, and its expression is inversely proportional to telomere length. FSHD may be the first known human disease in which TPE contributes to age-related phenotype.","5880b073c872c95565000003_047":"Andexanet Alfa for the Reversal of Factor Xa Inhibitor Activity.","532f55fed6d3ac6a34000036_002":"(GD) is the most common of the lysosomal storage disorders and is caused by defects in the GBA gene encoding glucocerebrosidase","533ea8fcc45e133714000010_005":"Selenocysteine is encoded by an in-frame UGA codon specified by a stem-loop structure, the Sec insertion sequence element (SECIS)","5324a8ac9b2d7acc7e000018_045":"BCR-ABL inhibitors, such as imatinib","554148c23f2354b713000001_010":"These data were enriched and organised in order to populate LepChorionDB, the first relational database, available on the web, containing Lepidopteran chorion proteins grouped in A and B classes","56c048acef6e39474100001c_018":"We evaluated the effect of the telomerase inhibitor imetelstat in preclinical models of MRT.","5ab90a79fcf456587200001b_002":"Most cases of spinal hematoma have a multifactorial etiology whose individual components are not all understood in detail. In up to a third of cases (29.7%) of spinal hematoma, no etiological factor can be identified as the cause of the bleeding. Following idiopathic spinal hematoma, cases related to anticoagulant therapy and vascular malformations represent the second and third most common categories. Spinal and epidural anesthetic procedures in combination with anticoagulant therapy represent the fifth most common etiological group and spinal and epidural anesthetic procedures alone represent the tenth most common cause of spinal hematoma. Anticoagulant therapy alone probably does not trigger spinal hemorrhage.","5895bc397d9090f35300000b_005":"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+\/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6.","589185cc621ea6ff7e00000b_016":"Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy.","571e2beabb137a4b0c000006_002":"Of particular interest is OCT3 expression and function in the brain, where it plays a role in serotonin clearance and influences mood and behavior.","56ed0ffe2ac5ed1459000008_009":"Sixty patients with relapsed and\/or refractory multiple myeloma were enrolled on this phase 1 trial to evaluate safety and tolerability and determine the maximum tolerated dose (MTD) of single-agent, oral ixazomib given weekly for 3 of 4 weeks. ","5324bdba9b2d7acc7e00001a_004":"Transvaginal ultrasound measurement of bladder wall thickness: ","56c1d857ef6e394741000033_007":"AIMS: The aim of this study was to assess the tolerability, pharmacokinetics and inhibitory effect on erythrocyte soluble catechol-O-methyltransferase (S-COMT) activity following repeated doses of opicapone. ","532f55fed6d3ac6a34000036_016":"mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients","517901bc8ed59a060a00003b_002":"CT-011, a humanized antibody interacting with PD-1,","5324a8ac9b2d7acc7e000018_034":"The hallmark of CML is an acquired chromosomal translocation known as the Philadelphia chromosome (Ph), which results in the synthesis of the breakpoint cluster region-Abelson murine leukemia (BCR-ABL) fusion oncoprotein, a constitutively active tyrosine kinase. The introduction of imatinib, a tyrosine kinase inhibitor (TKI) that is specific for BCR-ABL, was a major breakthrough in CML therapy","5a6f960fb750ff445500005c_003":"Appropriateness of diagnosis of streptococcal pharyngitis among Thai community pharmacists according to the Centor criteria.","514a0a57d24251bc05000051_016":"Fourteen of 17 double-blind, flumazenil-treated patients woke after a mean of 0.8 +\/- 0.3 (SD) mg vs. one of 14 placebo patients (p < .001). Seventy-five percent of the aggregated controlled and uncontrolled patients awoke from coma scores of 3.1 +\/- 0.6 to 0.4 +\/- 0.5 (p < .01) after the injection of 0.7 +\/- 0.3 mg of flumazenil. These patients had high benzodiazepine serum blood concentrations.","5a76179d83b0d9ea66000021_001":"Whole-genome sequencing (WGS) data are being generated at an unprecedented rate. Analysis of WGS data requires a flexible data format to store the different types of DNA variation. Variant call format (VCF) is a general text-based format developed to store variant genotypes and their annotations. However, VCF files are large and data retrieval is relatively slow. Here we introduce a new WGS variant data format implemented in the R\/Bioconductor package 'SeqArray' for storing variant calls in an array-oriented manner which provides the same capabilities as VCF, but with multiple high compression options and data access using high-performance parallel computing.Results: Benchmarks using 1000 Genomes Phase 3 data show file sizes are 14.0\u2009Gb (VCF), 12.3\u2009Gb (BCF, binary VCF), 3.5\u2009Gb (BGT) and 2.6\u2009Gb (SeqArray) respectively. Reading genotypes in the SeqArray package are two to three times faster compared with the htslib C library using BCF files. For the allele frequency calculation, the implementation in the SeqArray package is over 5 times faster than PLINK v1.9 with VCF and BCF files, and over 16 times faster than vcftools. When used in conjunction with R\/Bioconductor packages, the SeqArray package provides users a flexible, feature-rich, high-performance programming environment for analysis of WGS variant data.","53357193d6d3ac6a34000047_013":"Taken together, an orally available kinase inhibitor tofacitinib targeting JAK-mediated signals would be expected to be a new option for RA treatment.","51585b28d24251bc0500008d_023":"DNMT1, which is important for maintenance of methylation, increased across development and stayed high in adult cortex.","5880b812c872c95565000006_012":"In doing so, we discovered that dapivirine and maraviroc, a non-nucleoside reverse transcriptase inhibitor and an entry inhibitor currently in development as microbicides for HIV PrEP, are differentially metabolized in colorectal tissue and vaginal tissue.","5a6fa31ab750ff445500005e_001":"McEnhancer: predicting gene expression via semi-supervised assignment of enhancers to target genes.","56ffd08bcf1c325851000009_001":"Alu elements are each a dimer of similar, but not identical, fragments of total size about 300 bp, and originate from the 7SL RNA gene.","5ab147edfcf4565872000013_001":"Diaskintest\u00ae test and Mantoux test with 2TE PPD-L were concurrently carried out in 300 children and adolescents with tuberculosis and followed up in risk groups at a tuberculosis dispensary to determine the sensitivity of the new skin test in active tuberculosis infection.","5a896c26fcd1d6a10c000007_019":"Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer.","56c1f020ef6e394741000047_007":"Crude analysis revealed no significant difference between patients with subtypes of ILAE focal cortical dysplasia type I or Palmini et al focal cortical dysplasia type I concerning postoperative outcome according to the Engel and ILAE scoring systems on seizure frequency. Our findings revealed no significant difference concerning surgical outcome with respect to seizure frequency for the histologic subtypes of ILAE focal cortical dysplasia type I (Ib vs Ic) or Palmini et al focal cortical dysplasia type I (IA vs IB).","589a246078275d0c4a00002a_002":"OBJECTIVE: To report safety and efficacy outcomes from up to 9 years of treatment with teriflunomide in an extension (NCT00803049) of the pivotal phase 3 Teriflunomide Multiple Sclerosis Oral (TEMSO) trial (NCT00134563).","5319ac36b166e2b806000031_001":"We demonstrated the utility of this system with LAD constructs that can recruit the small G-protein Rac1 to the plasma membrane and induce the local formation of lamellipodia in response to focal illumination.","58d0dc878acda34529000004_003":"The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source","56c048acef6e39474100001c_020":"This enzyme is expressed in approximately 90% of human tumors, but not in the majority of normal somatic cells. imetelstat sodium (GRN163L), is a 13-mer oligonucleotide N3'\u2192P5' thio-phosphoramidate lipid conjugate, which represents the latest generation of telomerase inhibitors targeting the template region of the human functional telomerase RNA (hTR) subunit. ","55200c606b348bb82c000013_019":"Betrixaban is a new direct factor Xa inhibitor with distinct pharmacological characteristics, including a long half-life, minimal renal clearance and minimal hepatic metabolism.","52bf1d9e03868f1b06000010_008":"Denosumab is a neutralizing monoclonal antibody to RANKL and has recently been found to inhibit SRE more effectively than BP. ","5a679e8cb750ff4455000006_011":"In this first report of rabies in Equatorial Guinea, problems accompanying the application of the Milwaukee Protocol are described.","554356d0ed966d112c000005_003":"The average absolute dinucleotide relative abundance difference, termed delta-distance, has been commonly used to measure differences in dinucleotide composition, or genomic signature, between bacterial chromosomes and plasmids.","56ecfd572ac5ed1459000002_002":"Carfilzomib and its orally bioavailable structural analog oprozomib are second-generation, highly-selective, proteasome inhibitors.","54df695b1388e8454a000004_001":"IMPORTANCE: Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome.","5a6e24a5b750ff445500003c_003":"the recount2 resource is composed of over 70 000 uniformly processed human rna seq samples spanning tcga and sra including gtex the processed data can be accessed via the recount2 website and the bioconductor package this workflow explains in detail how to use the package and how to integrate it with other bioconductor packages for several analyses that can be carried out with the recount2 resource in particular we describe how the coverage count matrices were computed in recount2 as well as different ways of obtaining public metadata which can facilitate downstream analyses step by step directions show how to do a gene level differential expression analysis visualize base level genome coverage data and perform an analyses at multiple feature levels this workflow thus provides further information to understand the data in recount2 and a compendium of r code to use the data.","5324bdba9b2d7acc7e00001a_003":"BladderScan BVM 9500 device (Diagnostic Ultrasound, Bothell, WA) was used to measure bladder wall thickness","58a32efe60087bc10a000013_032":"Rapid detection of methicillin-resistant Staphylococcus aureus (MRSA) in diverse clinical specimens by the BD GeneOhm MRSA assay and comparison with culture.","58a5a51060087bc10a000021_007":"NOX1, an NADPH oxidase homologue that is most abundantly expressed in colon epithelial cells, requires the regulatory subunits NOXO1 (NOX organizing protein 1) and NOXA1 (NOX activating protein 1), as well as the flavocytochrome component p22(phox) for maximal activity","58cdb41302b8c60953000042_008":"The Ehlers-Danlos Syndrome (EDS) is a rare connective tissue disorder characterised by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs","531464a6e3eabad021000014_028":"Linkage analysis and sequencing revealed a XK gene mutation (McLeod syndrome).","5880aef4c872c95565000001_018":"CD38, a type II transmembrane glycoprotein highly expressed in hematological malignancies including multiple myeloma (MM), represents a promising target for mAb-based immunotherapy. In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope.","551c23bc6b348bb82c00000b_010":"The identification of mutations in the Aryl hydrocarbon receptor interacting protein (AIP) gene in a subset of familial isolated pituitary adenoma (FIPA) cases has recently expanded our understanding of the pathophysiology of inherited pituitary adenoma disorders","58bfd8e902b8c60953000018_021":"Necrobiosis lipoidica diabeticorum is a rare skin disorder, usually considered a marker for diabetes mellitus.","56c073fcef6e394741000020_001":"Spermidine protects against \u03b1-synuclein neurotoxicity.","56c1f02cef6e39474100004c_005":"Peptide GV1001 is a peptide vaccine representing a 16-amino acid human telomerase reverse transcriptase sequence, which has been reported to possess potential antineoplastic and anti-inflammatory activity.","5a7428090384be9551000001_003":"OBJECTIVE: Our objective was to evaluate the diagnostic value of computed tomography angiography (CTA) and ventilation perfusion (V\/Q) scan in the assessment of pulmonary embolism (PE) by means of a Bayesian statistical model.METHODS: Wells criteria defined pretest probability. ","5ace12be0340b9f058000007_010":"The FOXP2 gene is important for the development of proper speech motor control in humans.","5ac0a36f19833b0d7b000002_001":"Exosomes are a subset of extracellular vesicles (EVs) that have important roles in intercellular communication. They contain and carry bioactive molecules within their membranes which are delivered to target cells.","587e1a01fc7e8dd84f000001_002":"The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also includes an expandable listing of tissue-specific editing levels for each editing site, which will facilitate the assignment of biological functions to specific editing sites","5a7234352dc08e987e000007_008":"clinics in diagnostic imaging 175 corpus callosum glioblastoma multiforme gbm butterfly glioma","58cbb98c02b8c60953000034_078":"The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.","5a6a3335b750ff4455000025_001":"emMAW: computing minimal absent words in external memory.","58d8e6818acda3452900000a_044":"Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system.","58cbd0d502b8c60953000035_002":"This phenotype is similar to that reported previously in lvsB mutant cells where the ortholog of the LYST gene, involved in CHS, is mutated","5a8b1264fcd1d6a10c00001d_001":"The Fusarium wilt caused by Fusarium oxysporum strains is the most devastating disease of cucumber, banana, and tomato. ","51585b28d24251bc0500008d_024":"Our results indicate that DNMT1 plays the main role in maintenance of methylation of CXCR4 promoter, while DNMT3B may function as an accessory DNA methyltransferase to modulate CXCR4 expression in AsPC1 cells.","58cbb98c02b8c60953000034_052":"OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. ","53551206a0726bee57000001_005":"Cardiac toxicity is a major adverse effect caused by doxorubicin (DOX) therapy","5324bdba9b2d7acc7e00001a_007":"Preliminary data on the automatic measurement of bladder wall thickness were reported, suggesting a good repeatability and agreement with conventional ultrasound imaging","5ace19420340b9f05800000a_029":"In humans, loss-of-function MC1R mutations cause fair skin, freckling, red hair, and increased predisposition to melanoma; in mice, Mc1r loss-of-function is responsible for the recessive yellow mutation, associated with pheomelanic hair and a decreased number of epidermal melanocytes.","571f5c150fd6f91b68000009_004":"Complete absence of frataxin, the mitochondrial protein defective in patients with Friedreich's ataxia, is lethal in C. elegans, while its partial deficiency extends animal lifespan in a p53 dependent manner.","530cefaaad0bf1360c000012_024":"The syndrome is increasingly often diagnosed, particularly in association with iron deficiency, during pregnancy, in chronic renal failure and in patients with peripheral neuropathy. ","588f9950ed9bbee70d000002_009":"We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. ","5880e417713cbdfd3d000001_005":"Also there is no specific vaccine and treatment for Ebola virus; however, many candidate vaccines and antiviral-drugs such as ZMapp and TKM-Ebola are being developed for Ebola virus disease.","55421ee7ccca0ce74b000002_003":"The tumor suppressor protein p53 has been described \"as the guardian of the genome\" for its crucial role in regulating the transcription of numerous genes responsible for cells cycle arrest, senescence, or apoptosis in response to various stress signals. ","5a4df811966455904c00000e_007":"By site-directed mutagenesis, we have demonstrated that invariant residues Asp-261 and Glu-262 of the nucleic acid-binding TFIIS Zn ribbon are critical for stimulation of both elongation and RNA cleavage activities of RNA polymerase II. ","5a742d620384be9551000002_015":"OBJECTIVE The STOP-Bang questionnaire was developed as a quick and simple screening tool for obstructive sleep apnea (OSA) in preoperative clinics.","5a690487b750ff445500001f_005":"BACKGROUND: Infection with Epstein-Barr virus (EBV) is almost ubiquitous in humans and generally occurs at two ages: infantile, which is usually asymptomatic and associated with poorer socioeconomic conditions, and adolescent, which causes infectious mononucleosis (IM) in ~25% cases. The determinants of whether the infection causes IM remain uncertain. We aimed to evaluate seasonality and temporal trends in IM.METHODS: Data from all Monospot tests, used as a marker for IM, were collected from the Grampian population over 16 years.RESULTS: Positive Monospot test results peaked at 17 years in females and 19 in males. ","589d965a78275d0c4a000049_004":" Analogously to mRNAs, the non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail.","5324a8ac9b2d7acc7e000018_049":"matinib mesylate was designed as an inhibitor targeting the BCR-ABL tyrosine kinase, the molecular counterpart of the Philadelphia translocation t(9;22)(q34;q11).","54f9b74306d9727f76000004_004":"K201 (JTV519), a benzothiazepine derivative, has been shown to possess anti-arrhythmic and cardioprotective properties, but the mechanism of its action is both complex and controversial.","588f2de394c1512c50000001_004":"The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix.","58a5b1fe60087bc10a000024_006":"In this study, we revisited the role of Tax SUMOylation using a strategy based on the targeting of Ubc9, the unique E2 SUMO-conjugating enzyme.","5880b812c872c95565000006_007":"The nonnucleoside reverse transcriptase inhibitors UC-781 and TMC120-R147681 (Dapivirine) effectively prevented human immunodeficiency virus (HIV) infection in cocultures of monocyte-derived dendritic cells and T cells, representing primary targets in sexual transmission.","551c23bc6b348bb82c00000b_006":"Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.","5149f494d24251bc0500004c_013":"There was no clinical difference in the time interval to respiratory rate > or =10 breaths\/min between naloxone 0.8 mg s.q. and naloxone 0.4 mg i.v. for the out-of-hospital management of patients with suspected opioid overdose. ","589630f378275d0c4a000007_005":"Since the introduction of bortezomib in 2003, several next-generation proteasome inhibitors have also been used clinically, including carfilzomib, oprozomib, ixazomib, and delanzomib.","5a896c26fcd1d6a10c000007_009":"Since a fraction of DBA patients have a deficiency in ribosomal protein S19 (RPS19), we constructed lentiviral vectors containing the RPS19 gene for overexpression in hematopoietic progenitors from RPS19-deficient DBA patients.","5a6f960fb750ff445500005c_005":"Main outcome measure The appropriateness of diagnosis of streptococcal pharyngitis according to the original and modified Centor criteria and determinants of antibiotic dispensing including demographic characteristics of pharmacists, knowledge on pharyngitis, and attitudes and control beliefs on antibiotic dispensing. ","58f4b9d470f9fc6f0f000016_009":"Tularemia, caused by the gram-negative bacterium Francisella tularensis, is a severe, sometimes fatal disease.","55180ef46487737b43000006_015":"Dermatitis herpetiformis (DH) is a lifelong, gluten-sensitive, blistering skin disease with pathognomonic immunoglobulin (Ig)A deposits in the papillary dermis.","5a761ac3aacfb9cd4c000002_011":"Doege-Potter syndrome is a paraneoplastic syndrome characterized by non-islet cell tumor hypoglycemia secondary to a solitary fibrous tumor.","5319ac99b166e2b806000034_002":"TBC1D7 knockdown decreases the association of TSC1 and TSC2 leading to decreased Rheb-GAP activity, without effects on the localization of TSC2 to the lysosome.","52bf1b0a03868f1b06000009_005":"Inheritance of a pair of alleles of an autosomal recessive gene on chromosome 13 is necessary and sufficient to cause such copper accumulation in WD; reducing the dietary intake of copper cannot prevent the development of WD. ","5a72329e2dc08e987e000006_005":"Supine films from 44 cases of pneumoperitoneum were randomly interspersed among supine films from 87 control subjects without free air, and the films were reviewed for the presence or absence of various signs of pneumoperitoneum, including Rigler's sign (gas on both sides of the bowel wall), the falciform ligament sign (gas outlining the falciform ligament), the football sign (gas outlining the peritoneal cavity), the inverted-V sign (gas outlining the medial umbilical folds), and the right-upper-quadrant gas sign (localized gas in the right upper quadrant).","58cbd0d502b8c60953000035_001":"A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Ch\u00e9diak-Higashi syndrome in American mink.","57136a7e1174fb1755000006_001":"The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.","5506c3e38e1671127b00000a_028":"We investigated the expression of Na(+)\/Ca(2+) exchanger (NCX) and the functional role of NCX in retinal damage by using NCX1-heterozygous deficient mice (NCX1(+\/-)) and SEA0400 (2-[4-[(2,5-difluorophenyl)methoxy] phenoxy]-5-ethoxyaniline), a selective NCX inhibitor in vivo. ","514a0a57d24251bc05000051_044":"In 23 patients admitted to the Intensive Care Unit with coma due to overdose with benzodiazepines or other sedatives, flumazenil i.v. (up to 2 mg or placebo) was given. In 13 patients given flumazenil the Glasgow Coma Scale (GCS) increased significantly from 4.9 to 7.8 (p less than 0.05). Six of these 13 patients, including mainly benzodiazepine mono-intoxications, needed only one series of injections (up to 1.0 mg flumazenil); the GCS increased thereby from 4.5 to 10.7 within a maximum of 5 min (p less than 0.01).","589d965a78275d0c4a000049_012":"Plant miRNAs are first transcribed as stem-loop primary miRNAs (pri-miRNAs) by RNA polymerase II,then cleaved in the nucleus into mature miRNAs by Dicer-like 1 (DCL1)","551fd9c06b348bb82c000012_002":"MATERIALS AND METHODS: Compared with the Cincinnati Prehospital Stroke Scale (CPSS), emergency physicians prospectively used the ROSIER as a stroke recognition tool on suspected patients in the prehospital setting.","58d8e6818acda3452900000a_043":"Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15.","53357193d6d3ac6a34000047_004":"The preclinical pharmacokinetic (PK)\/pharmacodynamic (PD) profile of tofacitinib, an oral Janus kinase (JAK) inhibitor, in a mouse collagen-induced arthritis (mCIA) model was compared with clinical PK\/PD data from patients with rheumatoid arthritis (RA).","54e0c3e71388e8454a000013_004":"Effect of an investigational CYP17A1 inhibitor, orteronel (TAK-700), on estrogen- and corticoid-synthesis pathways in hypophysectomized female rats and on the serum estradiol levels in female cynomolgus monkeys.","572096c90fd6f91b6800000e_015":"INTRODUCTION: Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene. ","5314bd7ddae131f847000006_009":"Any dysfunction of insulin signalling pathway as a result of insulin receptor gene mutations is linked with various forms of insulin resistance, including insulin resistance type A, Donohue or Rabson-Mendenhall syndrome, which differ in the level of severity. ","5a67ab79b750ff445500000b_005":"The CURB65 pneumonia severity score outperforms generic sepsis and early warning scores in predicting mortality in community-acquired pneumonia.","531464a6e3eabad021000014_021":"The different XK mutations may have different effects upon the XK gene product and thus may account for the variable phenotype.","5118dd1305c10fae75000001_009":"In women the DAS28 was significantly higher than in men due to higher scores for general health and tender joints. Likewise, HAQ and VAS pain were rated significantly higher in women.","55475dc2f35db75526000001_010":"Botulism is a disease characterized by neuromuscular paralysis and is produced from botulinum neurotoxins (BoNTs) found within the Gram positive bacterium Clostridium botulinum.","5708a845cf1c32585100000f_002":"The Dishevelled protein mediates several diverse biological processes. Intriguingly, within the same tissues where Xenopus Dishevelled (Xdsh) controls cell fate via canonical Wnt signaling,","5a6e2b1bb750ff445500003e_002":"Psygenet2r is especially suited for network medicine analysis of psychiatric disorders.","5a679e8cb750ff4455000006_009":"The Milwaukee protocol has been attributed to survival in rabies encephalitis despite a lack of scientific evidence supporting its therapeutic measures.","588f9f83ed9bbee70d000004_003":"Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.In search for the pathophysiology and causative agent of VE, we performed a cross-sectional study on clinical, serological and neuroimaging data on chronic VE patients during two medical expeditions to three villages within the Viliuiski river basin in the Republic of Sakha in 2000 and to the capital Yakutsk in 2006","551fd9c06b348bb82c000012_029":"DIAGNOSTIC SCALES: The results of an assessment with the Recognition of Stroke in the Emergency Room (ROSIER) scale, the Face Arm Speech Test (FAST) scale and the diagnosis of definite or probable stroke by an emergency department","54d907c84b1fd0d33c000008_008":"A monoclonal antibody to human interleukin-5 (mepolizumab) was developed for atopic diseases. ","5506c3e38e1671127b00000a_043":"Using SEA0400, a potent and selective inhibitor of the Na+-Ca2+ exchanger (NCX), we examined whether NCX is involved in nitric oxide (NO)-induced disturbance of endoplasmic reticulum (ER) Ca2+ homeostasis followed by apoptosis in cultured rat microglia.","56c3320a50c68dd416000008_001":"Estimates of the newborn frequency of cystic fibrosis in different Caucasian groups range from 4 times more to 40 times less common than the generally accepted figure of 1:2000.","5a774fdcfaa1ab7d2e000008_021":"Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and recruits RAP1-interacting factor 1 (RIF1) to dissociate the 53BP1-TIRR complex.","5a72302b2dc08e987e000005_002":"Aims The Gore REDUCE Clinical Study (REDUCE) aims to establish superiority of patent foramen ovale closure in conjunction with antiplatelet therapy over antiplatelet therapy alone in reducing the risk of recurrent clinical ischemic stroke or new silent brain infarct in patients who have had a cryptogenic stroke. ","5506c3e38e1671127b00000a_021":"In view of the previous observation that NO stimulates the activity of the Na(+)\/Ca(2+) exchanger (NCX), this study examines the involvement of NCX in cytotoxicity. The specific NCX inhibitor SEA0400 blocked SNP-induced phosphorylation of ERK, JNK and p38 MAPK, and decrease in cell viability. ","56b1f4300a360a5e4500001b_005":"Thus, the (47)LQVVR(51) peptide seems to have an important role in HCC fibrillization.","530cf4c54a5037880c000008_005":"Ibrutinib, an inhibitor of Bruton's tyrosine kinase is showing impressive responses in heavily pre-treated high-risk CLL, whether alone or in combination with MoAbs or chemotherapy.","5a79d0b8faa1ab7d2e00000d_010":"During DNA replication, synthesis of the lagging strand occurs in stretches termed Okazaki fragments. ","58a32efe60087bc10a000013_012":"Detection of methicillin-resistant Staphylococcus aureus (MRSA) in specimens from various body sites: performance characteristics of the BD GeneOhm MRSA assay, the Xpert MRSA assay, and broth-enriched culture in an area with a low prevalence of MRSA infections.","5895bc397d9090f35300000b_021":"Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.","590c74d170f9fc6f0f00001e_006":"Ecm22 and Upc2 positively regulate basal expression of PRM1 and PRM4.","572096c90fd6f91b6800000e_001":"Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin","588f8e9794c1512c50000005_003":" Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation.","55180ef46487737b43000006_008":" There is growing evidence that dermatitis herpetiformis should be considered as the skin manifestation of gluten sensitivity developing in those patients with mild coeliac disease, who produce epidermal transglutaminase autoantibodies of high avidity and affinity.","589a246078275d0c4a00002a_030":"To report safety and efficacy outcomes from up to 9 years of treatment with teriflunomide in an extension (NCT00803049) of the pivotal phase 3 Teriflunomide Multiple Sclerosis Oral (TEMSO) trial (NCT00134563).A total of 742 patients entered the extension.","5519113b622b19434500000f_015":"Mutations leading to haploinsufficiency of the ZFHX1B gene have been described as the underlying cause of this condition. We report on the clinical findings in a 2(1\/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene.","5a742d620384be9551000002_012":"Evaluation of the Arabic version of STOP-Bang questionnaire as a screening tool for obstructive sleep apnea.","5519113b622b19434500000f_018":"Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the \"Mowat-Wilson\" syndrome","5335c7f2d6d3ac6a34000051_001":"The sodium glucose co-transporter 2 inhibitor canagliflozin lowered blood glucose, blood pressure, and body weight, with increased risk of urogenital infections in Phase 2 studies. ","5880a8ec0a76a87357000001_005":"SUMMARY: The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues. It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization of chromosomal abnormalities.AVAILABILITY AND IMPLEMENTATION: CAFE is available from https:\/\/bitbucket.org\/cob87icW6z\/cafe\/ as both source and compiled packages for Linux and Windows.","5343fc1aaeec6fbd07000003_006":"The NF1 gene, mutated in NF1, is also commonly mutated in sporadic glioblastoma multiforme (GBM)","5880aef4c872c95565000001_020":"CD38, a type II transmembrane glycoprotein highly expressed in hematological malignancies including multiple myeloma (MM), represents a promising target for mAb-based immunotherapy. In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. Daratumumab induced potent Ab-dependent cellular cytotoxicity in CD38-expressing lymphoma- and MM-derived cell lines as well as in patient MM cells, both with autologous and allogeneic effector cells.","5891b125621ea6ff7e00000e_008":"A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.","52b2e409f828ad283c00000e_001":"To describe the frequency and trends in the use of antipsychotics for adults with schizophrenia in Canada from 2005 to 2009.","5a6900ebb750ff445500001d_005":"<b>PURPOSE<\/b>: Finkelstein's test is the classic diagnostic test for de Quervain's disease.","530f900ee3eabad021000003_014":"Endocrine functions other than thyroid hormone regulation and metabolism were intact, resulting in normal hypothalamic\/pituitary function tests.","58bc5e2202b8c60953000002_009":"A mutation in the ubiquilin 2 gene (UBQLN2) was recently identified as a cause of X-linked amyotrophic lateral sclerosis (ALS)\/frontotemporal dementia (FTD) ","5891b125621ea6ff7e00000e_001":"Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.","550342a8f8aee20f27000002_003":"PURPOSE: Myoclonic astatic epilepsy (MAE, Doose syndrome) is a difficult to treat idiopathic generalized epilepsy of early childhood.","5519113b622b19434500000f_017":"It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1).","5506c3e38e1671127b00000a_029":"We investigated the expression of Na(+)\/Ca(2+) exchanger (NCX) and the functional role of NCX in retinal damage by using NCX1-heterozygous deficient mice (NCX1(+\/-)) and SEA0400 (2-[4-[(2,5-difluorophenyl)methoxy] phenoxy]-5-ethoxyaniline), a selective NCX inhibitor in vivo. ","5a87f44061bb38fb2400000f_001":"Anaplastic lymphoma kinase (ALK) rearrangement is detected in 3-7% of patients with non-small-cell lung cancer. Crizotinib is an ALK inhibitor, which was approved in 2011 for the treatment of ALK-positive lung cancer. ","58d8e6818acda3452900000a_006":"A marked decrease in HRV, documented in the study, may be an important clinical feature in MS patients with confirmed FBN1 gene mutations.","5ac716810340b9f058000003_001":"In the previous study, we generated a rat model of dilated cardiomyopathy (DCM) induced by adriamycin and found that the expression of lncRNA H19 was significantly upregulated in myocardial tissue.","56b76f496e3f8eaf4c000002_001":"SAGA (Spt-Ada-Gcn5-acetyltransferase)","5a742d620384be9551000002_018":"Subjects completed a questionnaire evaluating the presence and severity of AR and the STOP-BANG questionnaire (snoring, tiredness during daytime, observed apnea, high blood pressure, body mass index, age, neck circumference, gender), a validated screening method to identify obstructive sleep apnea syndrome risk.","54cb9c94f693c3b16b000005_016":"phospholamban regulation of SERCA2a","58f4b25e70f9fc6f0f000011_012":"Severe liver injury is identified by the liver chemistry threshold of alanine aminotransferase (ALT)>3\u00d7 upper limit of normal (ULN) and bilirubin>2\u00d7 ULN, termed Hy's law by the Food and Drug Administration. ","5a8980d2fcd1d6a10c00000d_007":"Thermogenesis is an important homeostatic mechanism essential for survival and normal physiological functions in mammals. Both brown adipose tissue (BAT) (i.e.uncoupling protein 1 (UCP1)-based)","531464a6e3eabad021000014_014":"Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome.","589630f378275d0c4a000007_003":"In the last few weeks, the FDA approved three new therapies for multiple myeloma: ixazomib, the first oral proteasome inhibitor; and daratumumab and elotuzumab, two monoclonal antibodies that target CD38 and SLAMF7, respectively.","5a87d73861bb38fb2400000b_001":"Ribotype 027 is highly prevalent in Germany, but its infections are restricted to older patients, while absent in children.","589635dd78275d0c4a000009_001":"LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations.","53357193d6d3ac6a34000047_009":"After two decades of research and development activity focussed on orally active kinase inhibitors, the first such drug (the JAK inhibitor Xeljanz, tofacitinib) was approved by the FDA in November 2012 for the treatment of rheumatoid arthritis (RA). ","5a79d0b8faa1ab7d2e00000d_003":"Therefore, efficient processing of Okazaki fragments is vital for DNA replication and cell proliferation.","54e1bdacae9738404b000009_004":"On October 8, 2013, riociguat (Adempas\u00ae) became the first medication approved for multiple etiologies of PH.","56cdf5195795f9a73e000045_006":"Treatment with RA reduced the level of the Hsp90 client protein Argonaute 2 and the number of P-bodies. ","5ace12be0340b9f058000007_004":"Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described.","589185cc621ea6ff7e00000b_002":"Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension.","530cefaaad0bf1360c00000d_022":"Subclinical hypothyroidism is a frequent but stable finding in young children with WS. The great majority of patients with WS >10 years, either with normal or hypoplastic thyroid, have normal thyroid function.","54e0d1491388e8454a000014_003":"Monoclonal antibodies that inhibit proprotein convertase subtilisin\/kexin type 9, including evolocumab (previously AMG 145), dramatically lowered LDL-C in phase 2 clinical trials when administered alone or in combination with a statin. ","5aae6499fcf456587200000c_001":"Borderline oxacillin-resistant Staphylococcus aureus (BORSA)","5519113b622b19434500000f_022":"Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with \"syndromic Hirschsprung disease\" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al. [1998: J Med Genet 35: 617-623] is specific for ZFHX1B mutations.","5a7346662dc08e987e00001a_004":"Puffy hand syndrome is an unrecognized complication of intravenous drug abuse.","56e0447a51531f7e3300000b_008":"Subviral pathogens of plants: the viroids","5ab147edfcf4565872000013_006":"he 100-year-old tuberculin skin test (Mantoux) has been the only available diagnostic test for latent tuberculosis infection, despite its many well-known limitations.","589a247078275d0c4a000035_014":"The US FDA has recently approved the use of dinutuximab combination therapy for the treatment of high-risk neuroblastoma in paediatric patients.","53440d2caeec6fbd07000004_001":"lncRNA MALAT-1 expression is upregulated in some tumors.","5147c088d24251bc05000026_004":"The Lambert Eaton syndrome is a paraneoplastic manifestation of small-cell lung cancer in 50% of the cases unlike generalized myasthenia which apparently is never associated with small-cell lung cancer.","55180ef46487737b43000006_011":"Gluten sensitive enteropathy has various manifestations, of which the two major forms are classical coeliac disease (cCD) and dermatitis herpetiformis (DH).","56c04412ef6e39474100001b_003":"This review focuses on the CD38 antigen and its targeting with daratumumab and provides an update on the results of recent clinical studies involving daratumumab.","52c7311903868f1b0600001d_001":"The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes. ","56ed0ffe2ac5ed1459000008_005":"Phase 1 study of weekly dosing with the investigational oral proteasome inhibitor ixazomib in relapsed\/refractory multiple myeloma.","5a7237672dc08e987e000008_006":"Idarucizumab is a targeted reversal agent that is approved for the urgent reversal of the anticoagulant effects of dabigatran. ","56e0447a51531f7e3300000b_003":"Viroids are plant subviral pathogens whose genomes are constituted by a single-stranded and covalently closed small RNA molecule that does not encode for any protein. ","589a246078275d0c4a00002a_005":"Teriflunomide, approved on the basis of the two placebo-controlled trials TEMSO and TOWER, demonstrated a reduction in the ARR from 0.54 to 0.37 and from 0.50 to 0.32 respectively. ","56c8f4615795f9a73e00001a_003":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species.","55475dc2f35db75526000001_007":"Botulism is a severe neuroparalytic disease that affects humans, all warm-blooded animals, and some fishes. The disease is caused by exposure to toxins produced by Clostridium botulinum and other botulinum toxin-producing clostridia.","5324bdba9b2d7acc7e00001a_006":"ultrasound bladder and detrusor wall thickness","572096c90fd6f91b6800000e_012":"Giant axonal neuropathy (GAN)(1) is a rare autosomal recessive neurological disorder caused by mutations in the GAN gene that encodes gigaxonin, a member of the BTB\/Kelch family of E3 ligase adaptor proteins.(1) This disease is characterized by the aggregation of Intermediate Filaments (IF)-cytoskeletal elements that play important roles in cell physiology including the regulation of cell shape, motility, mechanics and intra-cellular signaling","589a246078275d0c4a00002a_027":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","5519113b622b19434500000f_025":"ZFHX1B mutations in patients with Mowat-Wilson syndrome.","56c1f020ef6e394741000047_006":"Crude analysis revealed no significant difference between patients with subtypes of ILAE focal cortical dysplasia type I or Palmini et al focal cortical dysplasia type I concerning postoperative outcome according to the Engel and ILAE scoring systems on seizure frequency. Our findings revealed no significant difference concerning surgical outcome with respect to seizure frequency for the histologic subtypes of ILAE focal cortical dysplasia type I (Ib vs Ic) or Palmini et al focal cortical dysplasia type I (IA vs IB).","5a7346662dc08e987e00001a_001":"Puffy hand syndrome is an unrecognized complication of intravenous drug abuse. ","5519113b622b19434500000f_001":"The cause of MWS is a de novo mutation in the ZEB2 gene.","58cbb98c02b8c60953000034_031":"Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC","589a247078275d0c4a000035_004":"Dinutuximab (ch14.18; Unituxin\u2122) is a chimeric human-mouse monoclonal antibody that binds to the glycolipid antigen disialoganglioside, which is highly expressed on the surface of neuroblastoma cells. This intravenous drug is approved in the EU and USA as combination therapy with granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin (IL)-2 and isotretinoin for the postconsolidation treatment of patients with high-risk neuroblastoma. ","5147c088d24251bc05000026_002":"However, the case that we report shows the unusual association of LEMS with non small-cell lung cancer and highlights the difficulties associated in the management of this condition.","55421ee7ccca0ce74b000002_034":"The tumor suppressor protein p53 is often referred to as the guardian of the genome","5891f9e549702f2e01000002_025":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is a common sensorimotor disorder that can generally be effectively managed in the primary care clinic.","5ad6e431133db5eb7800000e_001":"12 patients had color blindness based on the Ishihara test","56c04412ef6e39474100001b_009":"Daratumumab, a novel therapeutic human CD38 monoclonal antibody, induces killing of multiple myeloma and other hematological tumors.","56f7fe3709dd18d46b000015_001":"Mutations in BRAG1 have been identified in families with X-linked intellectual disability (XLID)","5a68f005b750ff4455000016_015":"CONCLUSIONS These results suggest that dialectical behavior therapy is a promising psychosocial intervention for improving interpersonal functioning among severely dysfunctional patients with borderline personality disorder.","55032e65e9bde69634000034_015":"The magnetic resonance (MR) findings of three patients with cerebral hemiatrophy, the so-called Dyke-Davidoff-Masson syndrome, which is characterized by variable degrees of unilateral loss of cerebral volume and compensatory changes of the calvarium are presented.","56ed0ffe2ac5ed1459000008_015":"Ixazomib is an investigational, orally bioavailable 20S proteasome inhibitor. Sixty patients with relapsed and\/or refractory multiple myeloma were enrolled on this phase 1 trial to evaluate safety and tolerability and determine the maximum tolerated dose (MTD) of single-agent, oral ixazomib given weekly for 3 of 4 weeks.","550f0e4c6a8cde6b72000003_024":"Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology.","58e74bff3e8b6dc87c000004_003":"A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.","589185cc621ea6ff7e00000b_001":"Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience.","54f9c40ddd3fc62544000001_001":"Transcription downstream of Ca(2+) influx is in large part funneled through the transcription factor nuclear factor of activated T cells (NFAT), a heavily phosphorylated protein that is cytoplasmic in resting cells, but that enters the nucleus when dephosphorylated by the calmodulin-dependent serine\/threonine phosphatase calcineurin.","55242d512c8b63434a000006_021":"The regional [18F]altanserin DV values using both of these methods were significantly correlated with literature-based values of the regional concentrations of 5-HT2A receptors determined by postmortem autoradiographic studies (r2 = 0.95, P < 0.001 for the 4C model and r2 = 0.96, P < 0.001 for the Logan method).","58eb9542eda5a57672000007_005":"Here, we report a specific in vivo association between coilin and rRNA, U small nuclear RNA (snRNA), and human telomerase RNA, which is altered upon treatment with DNA-damaging agents. Using chromatin immunoprecipitation, we provide evidence of coilin interaction with specific regions of U snRNA gene loci.","533ea8fcc45e133714000010_020":"eukaryotic selenocysteine UGA codons requires a stem-loop structure in the 3'UTR of mRNAs, the selenocysteine insertion sequence (SECIS) element","530c7f52970c65fa6b000010_001":"Oxantel disrupts polymicrobial biofilm development of periodontal pathogens","5717dbfe7de986d80d000001_005":"DRP1; a mitochondrial fission protein","5518e7da622b194345000004_011":"JNK phosphorylated recombinant c-Jun at T91\/T93 in a T95-dependent manner","56f564f909dd18d46b000009_005":"Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle","5a70e4b399e2c3af26000008_002":"<b>BACKGROUND AND OBJECTIVE<\/b>: Glecaprevir and pibrentasvir are pangenotypic direct-acting antiviral agents for the treatment of chronic hepatitis C virus infection.","58adc1ff9ef3c34033000006_005":"We present a high-resolution genome-wide map of TFIIB locations that implicates 3' NFRs in gene looping.","56c3320a50c68dd416000008_002":"Current meconium screening trials which may be effective in populations with the incidence equal to or greater than 1:2000, may be useful for populations with an incidence as low as 1:7000 only after maximum improvement of the methods","5324ce779b2d7acc7e00001e_002":"Pregabalin is, therefore, a valuable option in the first-line treatment of patients with fibromyalgia.","5353aedb288f4dae47000006_003":"the X inactive specific transcript (Xist) gene, which is known now to represent the master switch locus regulating X inactivation","56b710f276d8bf8d13000003_002":"human CLN3 that is defective in Batten disease, localizes to the vacuole","58c27b7102b8c60953000021_002":" We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation.","58adc1ff9ef3c34033000006_002":"Moreover, looping is dependent upon the general transcription factor TFIIB: the E62K (glutamic acid 62 -->lysine) form of TFIIB adversely affects looping at every gene tested, including BLM10, SAC3, GAL10, SEN1, and HEM3","5506c3e38e1671127b00000a_036":"Given the potential clinical benefit of inhibiting Na+\/Ca2+ exchanger (NCX) activity during myocardial ischemia reperfusion (I\/R), pharmacological approaches have been pursued to both inhibit and clarify the importance of this exchanger. SEA0400 was reported to have a potent NCX selectivity. Thus, we examined the effect of SEA0400 on NCX currents and I\/R induced intracellular Ca2+ overload in mouse ventricular myocytes using patch clamp techniques and fluorescence measurements.","5895bc397d9090f35300000b_001":"CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes. ","54f9b74306d9727f76000004_015":" We report that a new drug, the 1,4-benzothiazepine derivative JTV519, reverses this pathogenic process.","5a6900ebb750ff445500001d_004":"Finkelstein's test is the classic diagnostic test for de Quervain's disease.","54f9cb34dd3fc62544000002_006":" Emphasis is placed on our newly identified PLN-binding partner HS-1-associated protein X-1 (HAX-1), which has an anti-apoptotic function and presents with numerous similarities to Bcl-2.","5a68f005b750ff4455000016_017":"Dialectical behavior therapy (DBT) was originally designed as a treatment of emotionally dysregulated, impulsive, and dramatic disorders (e.g., borderline personality disorder) and populations (e.g., parasuicidal women).","5157539ed24251bc0500008a_001":"he CRISPR-Cas (clustered regularly interspaced short palindromic repeats, CRISPR-associated genes) is an adaptive immunity system in bacteria and archaea that functions via a distinct self-non-self recognition mechanism that is partially analogous to the mechanism of eukaryotic RNA interference (RNAi).","531464a6e3eabad021000014_038":"Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.","58a5a51060087bc10a000021_006":"Reactive oxygen species (ROS) production by NADPH oxidase 1 (NOX1), which is mainly expressed in colon epithelial cells, requires the membrane-bound component p22(PHOX) and the cytosolic partners NOX organizer 1 (NOXO1), NOX activator 1 (NOXA1), and Rac1","5540b9800083d1bf0e000002_008":"The antiparallel side-to-side association of spectrin alpha and beta monomers is a two-step process which occurs in seconds even at 0 degrees C and at low concentrations.","53357193d6d3ac6a34000047_025":"In patients with active RA in whom the response to MTX has been inadequate, the addition of tofacitinib at a dosage \u22653 mg twice daily showed sustained efficacy and a manageable safety profile over 24 weeks.","54f1e031c409818c32000001_008":"DX-88 (ecallantide, Dyax Corp.) is a highly specific recombinant plasma kallikrein inhibitor that halts the production of bradykinin and can be dosed subcutaneously.","58da1aa08acda34529000012_001":"Maternal smoking, BMI, parity, ethnicity, fetal gender, placental weight and hyperemesis gravidarum symptoms were associated with total hCG. ","571f5c150fd6f91b68000009_018":"It is caused by deficiency of frataxin, a highly conserved nuclear-encoded protein localized in mitochondria. The DNA abnormality found in 98% of Friedreich's ataxia chromosomes is the unstable hyperexpansion of a GAA triplet repeat in the first intron of the frataxin gene.","56b710f276d8bf8d13000003_004":"Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease.","5ace19420340b9f05800000a_006":"This paper reviews the path of discovery of the MC1R in control of animal coat colour, the subsequent role of MC1R in human physiology and possibly wider role of MC1R in human skin carcinogenesis and human development through history.","58cdb41302b8c60953000042_010":"Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders","5147c088d24251bc05000026_001":"Lambert-Eaton syndrome is a myasthenia-like syndrome of paraneoplastic origin which is often associated with anaplastic small-cell lung cancer.","5891c90949702f2e01000001_003":"INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.","5506c3e38e1671127b00000a_025":"The sodium-calcium exchanger (NCX) is one of the transporters contributing to the control of intracellular calcium (Ca(2+)) concentration by normally mediating net Ca(2+) efflux. However, the reverse mode of the NCX can cause intracellular Ca(2+) concentration overload, which exacerbates the myocardial tissue injury resulting from ischemia. Although the NCX inhibitor SEA0400 has been shown to therapeutically reduce myocardial injury, no in vivo technique exists to monitor intracellular Ca(2+) fluctuations produced by this drug.","571e40a8bb137a4b0c000009_005":"Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver","55032efde9bde69634000035_017":"Telcagepant represents a new class of antimigraine drug-the calcitonin gene-related peptide receptor blockers. ","58eb99f3eda5a57672000009_001":"Do centromeres ensure their early replication by promoting early activation of nearby origins, or have they migrated over evolutionary time to reside in early replicating regions?","532206819b2d7acc7e00000f_001":"To better study protein methylation, we have developed highly specific antibodies against monomethyl arginine; asymmetric dimethyl arginine; and monomethyl, dimethyl, and trimethyl lysine motifs. These antibodies were used to perform immunoaffinity purification of methyl peptides followed by LC-MS\/MS analysis to identify and quantify arginine and lysine methylation sites in several model studies. ","5319ac99b166e2b806000034_001":"Here, we identify and biochemically characterize TBC1D7 as a stably associated and ubiquitous third core subunit of the TSC1-TSC2 complex. We demonstrate that the TSC1-TSC2-TBC1D7 (TSC-TBC) complex is the functional complex that senses specific cellular growth conditions and possesses Rheb-GAP activity.","5a896c26fcd1d6a10c000007_008":"Ribosomal protein S19 (RPS19), currently the only gene associated with DBA, is mutated in 25% of DBA patients, but its role in erythropoiesis is unknown.","56c1f020ef6e394741000047_002":"Of the 91 patients, there were 50 patients with ILAE focal cortical dysplasia type Ib, 41 with ILAE focal cortical dysplasia type Ic, 63 with Palmini et al focal cortical dysplasia type IA, and 28 with Palmini et al focal cortical dysplasia type IB. ","54fc99f36ad7dcbc12000004_005":"After informed consent, a bilateral stereotactic electrode placement targeting the ventral intermediate thalamic nucleus (VIM) and the globus pallidus internus (GPi) was performed.","55376f19bc4f83e82800000c_007":"Most adult brain tumors are supratentorial malignant gliomas, whereas the most common malignant pediatric brain tumor is the cerebellar primitive neuroectodermal tumor (medulloblastoma).","5a761ac3aacfb9cd4c000002_007":"Her course was complicated by the development of recurrent fasting hypoglycemia, most likely secondary to Doege-Potter syndrome.","55242d512c8b63434a000006_015":"PET quantification of 5-HT2A receptors in the human brain: a constant infusion paradigm with [18F]altanserin.","5880e417713cbdfd3d000001_004":"Several patients with Ebola virus disease (EVD) managed in the United States have received ZMapp monoclonal antibodies, TKM-Ebola small interfering RNA, brincidofovir, and\/or convalescent plasma as investigational therapeutics.","52fa6ac72059c6d71c000055_013":"Bach1, a transcriptional repressor that is negatively regulated by heme in mammalian cells","515db3d8298dcd4e51000015_001":"Negative staining showed that supernatants from the centrifugation assays contained protofilaments, protofibrils and short particles (less than 300 nm), but pellets contained long filaments (greater than 1 micron) with an average diameter of 10 nm.","58cbd0d502b8c60953000035_003":"Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the \u03b2-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.","5a8b1264fcd1d6a10c00001d_014":"The purpose of this work was to gain an insight on the potential role of the phytopathogenic fungus Fusarium oxysporum f. sp. lycopersici in the translocation of metals and metalloids from soil to plant roots in tomato (Lycopersicum esculentum)","58f3ca5c70f9fc6f0f00000d_004":"Fusarium head blight (FHB) is a devastating disease of small grain cereal crops caused by the necrotrophic pathogen Fusarium graminearum and Fusarium culmorum.","5a6e2578b750ff445500003d_002":"To systematically assess changes in DNA looping architecture between samples, we introduce diffloop, an R\/Bioconductor package that provides a suite of functions for the quality control, statistical testing, annotation, and visualization of DNA loops. ","52f21b722059c6d71c00000b_002":"Most DCIS and invasive ductal carcinomas in LFS are hormone receptor positive and\/or HER-2 positive.","5ace19420340b9f05800000a_036":"Variants of the melanocortin 1 receptor (MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear.","550f0e4c6a8cde6b72000003_026":"Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candidate gene as causative of FSHD. However, DUX4 expression is extremely low in FSHD muscle, and there is no DUX4 animal model that mirrors the pathology in human FSHD. Here, we show that the misexpression of very low levels of human DUX4 in zebrafish development recapitulates the phenotypes seen in human FSHD patients.","54cf45e7f693c3b16b00000a_002":"human cardiac calsequestrin (CASQ2), a high-capacity calcium-binding protein located in the sarcoplasmic reticulum (SR),","52bf1b0a03868f1b06000009_001":"The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in the liver and brain.","5ace19420340b9f05800000a_034":"Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.","587e0116ae05ffb474000002_008":"Using both chromatin conformation capture and differential expression data, we show that CisMapper is more accurate at predicting the target genes of a TF than the distance-based approaches currently used, and is particularly advantageous for predicting the long-range regulatory interactions typical of tissue-specific gene expression.","58cbb98c02b8c60953000034_029":"BACKGROUND: Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.","58e9f0ba3e8b6dc87c00000e_001":"We sequenced genomes of the obligate symbionts, Sulcia muelleri and Nasuia deltocephalinicola, of the phloem-feeding pest insect, Macrosteles quadrilineatus (Auchenorrhyncha: Cicadellidae).","571e12097de986d80d000017_011":"Sodium glucose cotransporter 2 (SGLT2) inhibitors are a new class of treatment for T2DM that reduce hyperglycemia by reducing renal glucose reabsorption and thereby increasing urinary glucose excretion.This paper reviews the pharmacokinetic and pharmacodynamic properties of the SGLT2 inhibitor empagliflozin , the results of clinical trials investigating the efficacy of empagliflozin given as monotherapy or as add-on therapy on glycemic control, body weight, and blood pressure in patients with T2DM, and the safety and tolerability profile of empagliflozin.Empagliflozin offers good glycemic efficacy, weight loss, blood pressure reduction, and a low risk of hypoglycemia.","5a67c497b750ff4455000012_004":"Here we present Genomiser, an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian diseases.","56cb9b065795f9a73e000032_003":"The human Aurora kinases are a family of such targets. In this study, from a panel of 105 potential small-molecule inhibitors, two compounds Tripolin A and Tripolin B, inhibited Aurora A kinase activity in vitro. In human cells however, only Tripolin A acted as an Aurora A inhibitor. ","589480b47d9090f353000007_005":"Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results. webSDA currently has three modules: SDA docking to generate structures of the diffusional encounter complexes of two macromolecules, SDA association to calculate bimolecular diffusional association rate constants, and SDA multiple molecules to simulate the diffusive motion of hundreds of macromolecules.","550e828c71445a662f000002_009":"In contrast, gevokizumab occupies an allosteric site on IL-1\u03b2 and complex formation results in a minor reduction of binding affinity to IL-1RI. This suggests two different mechanisms of IL-1\u03b2 pathway attenuation.","5a68f448b750ff4455000018_014":"infective embolic retinopathy as a sequela of bacterial endocarditis is described in a 31 year old woman with mitral valve prolapse the infective organism corynebacterium minutissimum has not been previously found to cause ocular or multisystem diseases it is a common mucocutaneous inhabitant which causes erythrasma in our case report both ocular involvement and septicaemia were present the infection was confirmed by positive serial blood cultures mitral valve prolapse was confirmed by echocardiography on clinical examination the retinopathy consisted of white intraretinal lesions which resolved with antibiotic therapy by fluorescein angiography focal areas of hypofluorescence corresponding to the white fundus lesions were present optic disc oedema was also seen.","5ace12be0340b9f058000007_001":"The Key Regulator for Language and Speech Development, FOXP2, is a Novel Substrate for SUMOylation.","5324a8ac9b2d7acc7e000018_029":"hronic myelogenous leukemia is characterized by the Philadelphia-chromosome, a shortened chromosome 22 which is the result of a reciprocal translocation between chromosome 9 and 22. The fusion gene is called BCR-ABL. ","5880dba9c872c95565000009_002":"Currently, three selective CDK4\/6 inhibitors have been approved or are in late-stage development: palbociclib (PD-0332991), ribociclib (LEE011), and abemaciclib (LY2835219).","5a7234352dc08e987e000007_001":"Corpus callosum glioblastoma multiforme (GBM): butterfly glioma.","5880b073c872c95565000003_042":"New antidotes are being explored, including a mouse monoclonal antibody to dabigatran; andexanet alfa, a potential universal factor Xa inhibitor reversal agent; and a synthetic small molecule (PER977) that may be effective for the reversal of factor Xa inhibitors and direct thrombin inhibitors.","56c8274f5795f9a73e00000d_003":"In the ALS motor neurons, TAR DNA-binding protein of 43 kDa (TDP-43) is dislocated from the nucleus to cytoplasm and forms inclusions, suggesting that loss of a nuclear function of TDP-43 may underlie the pathogenesis of ALS.","58cbb98c02b8c60953000034_044":"Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene","56cb9b065795f9a73e000032_001":"Tripolin A, a novel small-molecule inhibitor of aurora A kinase, reveals new regulation of HURP's distribution on microtubules.","5ace12be0340b9f058000007_016":"CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering.","53124bdae3eabad02100000b_011":"molecular target of rapamycin (mTOR),","5710a592cf1c32585100002a_009":"Expression of the toxin genes by B. anthracis is enhanced during growth under elevated levels of CO2.","5149f494d24251bc0500004c_012":"There was no clinical difference in the time interval to respiratory rate > or =10 breaths\/min between naloxone 0.8 mg s.q. and naloxone 0.4 mg i.v. for the out-of-hospital management of patients with suspected opioid overdose. ","588f2de394c1512c50000001_001":"chromDraw: an R package for visualization of linear and circular karyotypes.","56cdf5195795f9a73e000045_001":"we examined whether another Hsp90 inhibitor radicicol (RA) affected P-bodies and stress granules. Treatment with RA reduced the level of the Hsp90 client protein Argonaute 2 and the number of P-bodies. Although stress granules still assembled in RA-treated cells upon heat shock, they were smaller and more dispersed in the cytoplasm than those in untreated cells","554148c23f2354b713000001_011":"LepChorionDB may provide insights in future functional and evolutionary studies of Lepidopteran chorion proteins and thus, it will be a useful tool for the Lepidopteran scientific community and Lepidopteran genome annotators, since it also provides access to the two pHMMs developed in this work, which may be used to discriminate A and B class chorion proteins","56c048acef6e39474100001c_017":"The GBM tumor-initiating cells were treated with imetelstat and examined for the effects on telomerase activity levels, telomere length, proliferation, clonogenicity, and differentiation.","56d860ad51531f7e33000002_008":"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+\/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. ","53262cdcd6d3ac6a34000003_004":"Both parturients were successfully managed using acupuncture rather than an epidural blood patch.","589185cc621ea6ff7e00000b_009":"CONCLUSIONS: Results from this study support continued development of nusinersen for treatment of SMA.CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that in children with SMA, intrathecal nusinersen is not associated with safety or tolerability concerns.","58edf567eda5a57672000011_005":"tuberculosis is a two component dormancy survival response regulator which induces the expression of 48 genes.","5891f9e549702f2e01000002_002":"OBJECTIVE: In the present study, we tested the hypothesis that having migraine in middle age is related to late-life parkinsonism and a related disorder, restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED).METHODS: The AGES-Reykjavik cohort (born 1907-1935) has been followed since 1967.","55054f8af73303d458000002_018":"Stable nitrogen (delta(15)N) and carbon (delta(13)C) isotope ratios were measured in bone collagen and dentine from human skeletons excavated from this site in order to establish a weaning curve in mid-Holocene hunter-gatherers.","5a86f074faa1ab7d2e00003a_014":"chordomas arise in the skull base and spine and usually occur in adults and are rare in the pediatric population cases of chordoma in pediatric age are often poorly differentiated showing cytologic atypia increased cellularity and mitosis and their aggressive behavior is associated with a high incidence of metastatic spread and a short patient survival recent studies have described loss of smarcb1 ini1 protein in poorly differentiated chordomas associated not with point mutations but with smarcb1 ini1 gene deletions instead in this study we considered immunohistochemistry and smarcb1 ini1 mutational status to examine smarcb1 status in a series of pediatric chordomas 7 classic and 1 poorly differentiated we performed immunohistochemical tests for ini1 brachyury s100 and cytokeratins and conducted a genetic analysis on the smarcb1 coding sequence nm 003073 using the sanger method and multiplex ligation dependent probe amplification to detect abnormal copy numbers of the gene locus all 8 cases were positive for brachyury whereas there was no nuclear smarcb1 ini1 expression in 4 of the 8 cases including the poorly differentiated chordoma genetic analysis identified a missense mutation in 2 cases and a nonsense mutation associated with loss of smarcb1 ini1 protein and features of poorly differentiated tumor in 1 these mutations were novel variants occurring in heterozygosity and they were judged to be pathogenic by 3 different bioinformatic tools in 7 of 8 cases we performed multiplex ligation dependent probe amplification and 3 cases showed deletions at the smarcb1 locus our results confirm the pathogenic involvement of smarcb1 ini1 in childhood chordoma we also describe 3 novel pathogenic mutations.","5880b812c872c95565000006_011":"Two large efficacy trials of a vaginal ring containing the investigational drug dapivirine demonstrated efficacy and safety in preventing HIV infections in women in Africa.","55421ee7ccca0ce74b000002_036":"The tumor suppressor p53 is the most frequently mutated gene in human cancer and is often referred to as the \"guardian of the genome\"","5710e131a5ed216440000001_012":"Apart from chromosome XII, which contains the 1-2 Mb rDNA cluster, chromosome IV is the longest S. cerevisiae chromosome.","58a32efe60087bc10a000013_031":"Comparison of MRSASelect Agar, CHROMagar Methicillin-Resistant Staphylococcus aureus (MRSA) Medium, and Xpert MRSA PCR for detection of MRSA in Nares: diagnostic accuracy for surveillance samples with various bacterial densities.","589a247078275d0c4a000035_012":"<b>PURPOSE<\/b>: The pharmacology, clinical efficacy, safety, dosage and administration, and role in therapy of dinutuximab for the treatment of high-risk pediatric neuroblastoma are reviewed.<br><b>SUMMARY<\/b>: Dinutuximab (Unituxin, United Therapeutics) is a novel monoclonal antibody recently approved for use in combination with granulocyte- macrophage colony-stimulating factor, interleukin-2, and isotretinoin for the treatment of pediatric patients with high-risk neuroblastoma.","5540ca8a0083d1bf0e000003_009":"Only a minority of stem cells expressed nestin, a marker for neural precursor cells.","550618f58e1671127b000007_001":"Aberrant beta-adrenergic signaling and depressed calcium homeostasis, associated with an imbalance of protein kinase A and phosphatase-1 activities, are hallmarks of heart failure. Phosphatase-1 is restrained by its endogenous inhibitor, protein phosphatase inhibitor-1 (PPI-1)","58d8e6818acda3452900000a_039":"Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes.","5343caffaeec6fbd07000002_006":" rat and human selenoprotein P cDNA but contained 12 rather than 10 TGAs","58cbb98c02b8c60953000034_051":"OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. ","58cd7af402b8c6095300003e_001":"Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP). ","54df695b1388e8454a000004_007":"BACKGROUND: X-linked dystonia-parkinsonism (XDP) or \"lubag\" is an X-linked recessive disorder that afflicts Filipino men, and rarely, women. ","52f350042059c6d71c000010_001":"The incidence of Edwards syndrome is 1:5000 of live-born","58a57f9460087bc10a00001f_007":"MITF 3-bp deletions at amino acid position 217 have previously been described in patients with Tietz syndrome (TS), a clinical entity with hearing loss and generalised hypopigmentation.","56ed0ffe2ac5ed1459000008_010":"Ixazomib is the first investigational oral proteasome inhibitor to be studied clinically. In this phase 1 trial, 60 patients with relapsed\/refractory multiple myeloma (median of 4 prior lines of therapy; bortezomib, lenalidomide, thalidomide, and carfilzomib\/marizomib in 88%, 88%, 62%, and 5%, respectively) received single-agent ixazomib 0.24 to 2.23 mg\/m(2) (days 1, 4, 8, 11; 21-day cycles). ","55054f8af73303d458000002_012":"Amino acid delta13C analysis of hair proteins and bone collagen using liquid chromatography\/isotope ratio mass spectrometry: paleodietary implications from intra-individual comparisons.","5547a01cf35db75526000005_016":"CONCLUSION\/SIGNIFICANCE: The unique genomic hallmarks between microsporidia and fungi are independent of sequence based phylogenetic comparisons and further contribute to define the borders of the fungal kingdom and support the classification of microsporidia as unusual derived fungi.","54f2210164850a5854000001_001":"Hepcidin contains eight cysteine residues that form four disulfide bridges, which stabilize a hairpin-shaped structure with two beta sheets.","5a6e3155b750ff445500003f_005":"We introduce CancerSubtypes, an R package for identifying cancer subtypes using multi-omics data, including gene expression, miRNA expression and DNA methylation data.","58a2e5f760087bc10a000007_004":"Fibrillar \u03b1-synuclein (AS) is the major component of Lewy bodies, the pathological hallmark of Parkinson's disease. ","5324a8ac9b2d7acc7e000018_006":" BCR-ABL tyrosine kinase inhibitor imatinib ","531464a6e3eabad021000014_055":"Direct sequencing of the PCR-amplified genomic DNA revealed the mutation was a single C-nucleotide insertion at codon 151 in exon 2 of the XK gene, which resulted in a 3'-frameshift.","54d8fd334b1fd0d33c000005_004":"A peptide vaccine, rindopepimut (CDX-110, Celldex Therapeutics), is directed against the novel exon 1-8 junction produced by the EGFRvIII deletion, and it has shown high efficacy in preclinical models","58cbb98c02b8c60953000034_002":"To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.","5a742d620384be9551000002_016":"RECENT FINDINGS The STOP-Bang questionnaire was originally validated as a screening tool to identify surgical patients who are at high-risk of obstructive sleep apnea (OSA).","53357193d6d3ac6a34000047_014":"A non-selective JAK inhibitor, ruxolitinib, has recently been approved to treat myelofibrosis whereas tofacitinib is poised for approval to treat rheumatoid arthritis. ","58cbb98c02b8c60953000034_017":"Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1).","589a247078275d0c4a000035_021":"CONCLUSION Dinutuximab is a novel monoclonal antibody that is efficacious as part of combination immunotherapy in pediatric patients with high-risk neuroblastoma.","58cbb98c02b8c60953000034_007":"The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1.","56c1f01def6e394741000045_003":"BACKGROUND: Orteronel is an investigational, partially selective inhibitor of CYP 17,20-lyase in the androgen signalling pathway, a validated therapeutic target for metastatic castration-resistant prostate cancer. We assessed orteronel in chemotherapy-naive patients with metastatic castration-resistant prostate cancer.","58eb99f3eda5a57672000009_002":"Do centromeres ensure their early replication by promoting early activation of nearby origins, or have they migrated over evolutionary time to reside in early replicating regions?","53551206a0726bee57000001_001":"It remains to be seen whether inhibition by adriamycin of these systems is related to the severe cardiotoxicity, the major adverse effect of the drug that limits its clinical usefulness.","514a0a57d24251bc05000051_033":"We concluded that flumazenil is an excellent antidote for benzodiazepine overdose and valuable for differentiating the patients in comatose.","56f780cb09dd18d46b000011_001":" programmed death receptor-1 (PD-1) inhibitors pembrolizumab and nivolumab were approved for the treatment of advanced melanoma","5a896c26fcd1d6a10c000007_001":"The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups.","58a32efe60087bc10a000013_007":"Most of MRSA strains and a part of methicillin-susceptible S. aureus (MSSA) strains harbored unique combinations of non-\u00df-lactamase genes aac(6)\/aph(2\u2033), aph(3)-III, ant (4,4\u2033), ermA, ermC, mrsA, tetM, and tetK","58bc5e2202b8c60953000002_004":"Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10\u00a0% of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.","551c23bc6b348bb82c00000b_003":" The discovery of heterozygous, loss-of-function germline mutations in the gene encoding the aryl hydrocarbon receptor interacting protein (AIP) in 2006 has subsequently enabled the identification of a mutation in this gene in 20% of FIPA families and 20% of childhood-onset simplex soma- totroph adenomas.","56a39d60496b62f23f000006_003":"r3Cseq: an R\/Bioconductor package for the discovery of long-range genomic interactions from chromosome conformation capture and next-generation sequencing data","58b6978822d300530900000a_006":"A pathological hallmark in the brain of an AD patient is extracellular amyloid plaques formed by accumulated beta-amyloid protein (Abeta), a metabolic product of amyloid precursor protein (APP). Studies have revealed a strong genetic linkage in the early-onset familial form (<60 years old) of AD. For example, some mutant APPs are transmitted dominantly and are segregated with inheritance of early onset AD. These mutants facilitate Abeta production. The \"Swedish\" mutations (APP(SW)) and the \"London\" mutation (APP(LON)) are examples of these mutants. ","511a3573df1ebcce7d000018_002":"The human tissue Kallikrein family consists of 15 genes with the majority shown to be differentially expressed in cancers and\/or indicators of cancer prognosis.","58d8e6818acda3452900000a_021":"Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome.","5ad6e431133db5eb7800000e_002":"12 patients had color blindness based on the Ishihara test","571f5c150fd6f91b68000009_019":"It is caused by deficiency of frataxin, a highly conserved nuclear-encoded protein localized in mitochondria. The DNA abnormality found in 98% of Friedreich's ataxia chromosomes is the unstable hyperexpansion of a GAA triplet repeat in the first intron of the frataxin gene.","532dcfc9d6d3ac6a34000021_012":"SUV39H1 impaired enzyme activity despite the presence of an intact catalytic SET domain","5880b073c872c95565000003_033":"Specific reversal agents are currently under development (idarucizumab for dabigatran, andexanet alfa for Xa inhibitors, and PER977 for both Xa- and thrombin inhibitors), which will facilitate clinical management of severe bleeding and emergency surgery","58f4b25e70f9fc6f0f000011_004":"We compared its performance with that of Hy's Law, which predicts severity of DILI based on levels of alanine aminotransferase or aspartate aminotransferase and total bilirubin, and validated the model in a separate sample.We conducted a retrospective cohort study of 15,353 Kaiser Permanente Northern California members diagnosed with DILI from 2004 through 2010, liver aminotransferase levels above the upper limit of normal, and no pre-existing liver disease.","550618f58e1671127b000007_005":"Inhibitor 1 (I-1) is a protein inhibitor of protein phosphatase 1 (PP1), a major eukaryotic Ser\/Thr phosphatase.","58dd0dde8acda34529000027_007":"Marfan's syndrome is an autosomal dominant disorder of connective tissue, commonly involving the cardiovascular, ocular, and skeletal systems. ","58bfd8e902b8c60953000018_016":"Granuloma annulare occurs earlier than necrobiosis lipoidica diabeticorum and the association with diabetes mellitus is much weaker.","58d0dc878acda34529000004_001":"The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.","54db62a3034aea571d000001_007":"sarco(endo)plasmic reticulum calcium pump (SERCA)","56c1f045ef6e394741000058_003":"This review was based on a PubMed search and focuses on the potential role of selexipag in the treatment of pulmonary arterial hypertension (PAH).","5343fc1aaeec6fbd07000003_002":"Individuals with NF1 harbor 1 mutated NF1 allele","56c58f1b5795f9a73e000001_001":"Biologists agree that the ancestor of mitochondria was an alpha-proteobacterium.","5895bc397d9090f35300000b_009":"Mutations in the SLC9A6 gene cause Christianson syndrome in boys.","534427f8aeec6fbd07000009_003":"We identified 101 single-nucleotide variants (SNVs) including 77 non-synonymous SNVs (67 missense and 10 nonsense mutations) and 11 INDELs causing frameshifts.","54cb9c94f693c3b16b000005_014":"Phospholamban (PLB) inhibits the activity of SERCA2a, the Ca(2+)-ATPase in cardiac sarcoplasmic reticulum, by decreasing the apparent affinity of the enzyme for Ca(2+).","531464a6e3eabad021000014_042":"McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function.","54f1e031c409818c32000001_007":"DX-88 or ecallantide, a potent and specific inhibitor of plasma kallikrein, achieved all primary and secondary efficacy end points in a placebo-controlled, double-blind, phase 3 study, with a second phase 3 study ongoing.","56c1f020ef6e394741000047_015":"Our findings revealed no significant difference concerning surgical outcome with respect to seizure frequency for the histologic subtypes of ILAE focal cortical dysplasia type I (Ib vs Ic) or Palmini et al focal cortical dysplasia type I (IA vs IB).","5880a8ec0a76a87357000001_003":"It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization of chromosomal abnormalities.CAFE is available from https:\/\/bitbucket.org\/cob87icW6z\/cafe\/ as both source and compiled packages for Linux and Windows.","55242d512c8b63434a000006_016":"We used [18F]altanserin and positron emission tomography (PET) to image serotonin 5-HT2A receptors in humans.","5324a8ac9b2d7acc7e000018_063":"Chronic myelogenous leukemia (CML) is caused by the BCR-ABL tyrosine kinase, the product of the Philadelphia chromosome. Imatinib mesylate, formerly STI571, is a selective inhibitor of this kinase.","56bb621fac7ad10019000009_001":"BACKGROUND: Katayama fever is an acute clinical condition characterised by high fever, dry cough and general malaise occurring during early Schistosoma spp. infection.","5880b073c872c95565000003_046":"Andexanet Alfa for the Reversal of Factor Xa Inhibitor Activity.","530cefaaad0bf1360c000012_020":"Restless leg syndrome manifested by iron deficiency from chronic hemoptysis in cystic fibrosis.","5314bd7ddae131f847000006_004":"Donohue syndrome (leprechaunism; OMIM *246200) is a rare, recessively inherited disorder of extreme insulin resistance due to mutations in the insulin receptor gene (INSR) causing either defects in insulin binding or receptor autophosphorylation and tyrosine kinase activity.","5880b073c872c95565000003_010":"In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. ","5148691bd24251bc0500002d_004":"These results suggest that JNK activation by H(2)O(2) plus PDTC resulted from the down-regulation of JNK phosphatases.","58dd0dde8acda34529000027_013":"The Marfan syndrome is an inherited disorder of the connective tissue which is mainly caused by a mutation in the fibrillin-1 gene. ","533ea8fcc45e133714000010_010":"recoding of the UGA stop codon to selenocysteine. In eukaryotes, this requires an RNA stem loop structure in the 3'-untranslated region, termed a selenocysteine insertion sequence (SECIS),","58aa0c6f396a458e50000008_001":"The neurohypophysial hormone oxytocin (OXT) and its receptor (OXTR) have critical roles in the regulation of pro-social behaviors, including social recognition, pair bonding, parental behavior, and stress-related responses.","550f0e4c6a8cde6b72000003_025":"Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candidate gene as causative of FSHD. However, DUX4 expression is extremely low in FSHD muscle, and there is no DUX4 animal model that mirrors the pathology in human FSHD. Here, we show that the misexpression of very low levels of human DUX4 in zebrafish development recapitulates the phenotypes seen in human FSHD patients.","512d0e635274a5fb07000005_002":"Two of them received etanercept and the remainder adalimumab.","58a32edd60087bc10a000012_002":"Current antiobesity medications and pharmacological strategies will be reviewed.Two new antiobesity drugs - naltrexone\/bupropion (Contrave) and liraglutide (Saxenda) - were approved by the US Food and Drug Administration in 2014 and join four other approved obesity medications, including phentermine\/topiramate XR (Qsymia) and lorcaserin (Belviq), to form the largest number of medications available for the treatment of obesity.","550ea8f1b305b40c5c000005_007":"Pridopidine (ACR16) belongs to a novel class of central nervous system compounds in development for the treatment of Huntington disease. The objective of the study was to investigate the metabolic changes in patients with Huntington disease before and after pridopidine treatment. METHODS: [(18)F]Fluorodeoxyglucose positron emission tomographic imaging was used to measure the regional cerebral metabolic rate of glucose at baseline and after 14 days of open-label pridopidine treatment in 8 patients with Huntington disease. ","5a896c26fcd1d6a10c000007_018":"Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors.","5147c8a6d24251bc05000027_016":"Galactocerebrosidase (GALC) is deficient in all tissues from human patients and animal models with globoid cell leukodystrophy (GLD) or Krabbe disease.","532ff917d6d3ac6a34000038_002":"Genome-wide analysis of histone methylation in human cell lines and mouse primary T cells reveals that intron-containing genes are preferentially marked with histone H3 Lys36 trimethylation (H3K36me3) ","56ed0ffe2ac5ed1459000008_003":"Phase 1 study of twice-weekly ixazomib, an oral proteasome inhibitor, in relapsed\/refractory multiple myeloma patients.","54cf45e7f693c3b16b00000a_009":"Calsequestrin, the main calcium buffer in the sarcoplasmic reticulum, provides a pool of calcium for release through the ryanodine receptor and acts as a luminal calcium sensor for the channel via its interactions with triadin and junctin","5ace37d50340b9f058000011_017":"Despite advances in the treatment of HIV disease, the incidence and mortality of invasive cryptococcal disease remain significant.","56bc77a3ac7ad10019000015_019":"A randomized trial assessing the safety and immunogenicity of AS01 and AS02 adjuvanted RTS,S malaria vaccine candidates in children in Gabon.","5880b073c872c95565000003_041":"Andexanet alfa (PRT064445), a specific reversal agent against factor Xa inhibitors, showed a complete reversal of anticoagulant activity of apixaban and rivaroxaban within minutes after administration without adverse effects in two recently completed parallel phase III trials ANNEXA-A and ANNEXA-R respectively.","58a5a51060087bc10a000021_001":"Studies of cytosolic co-factors showed that the C-terminal cytoplasmic domain of NOX1 was absolutely required for activation with NOXO1 and NOXA1 and that this activity required interaction of the putative NADPH-binding region of this domain with NOXA1.","5ab90a79fcf456587200001b_004":"Most cases of spinal hematoma have a multifactorial etiology whose individual components are not all understood in detail. In up to a third of cases (29.7%) of spinal hematoma, no etiological factor can be identified as the cause of the bleeding. Following idiopathic spinal hematoma, cases related to anticoagulant therapy and vascular malformations represent the second and third most common categories. Spinal and epidural anesthetic procedures in combination with anticoagulant therapy represent the fifth most common etiological group and spinal and epidural anesthetic procedures alone represent the tenth most common cause of spinal hematoma. Anticoagulant therapy alone probably does not trigger spinal hemorrhage.","55242d512c8b63434a000006_002":"The cortical binding of [(18) F]MH.MZ and [(18) F]altanserin was blocked by ketanserin supporting that both radioligands bind to 5-HT2A receptors in the pig brain.","5a74e9ad0384be955100000a_005":"selective estrogen receptor modulator (SERM","56d1f790f22319765a000001_005":"Two types of epidermal growth factor receptor (EGFR) mutations in exon 19 and exon 21 (ex19del and L858R) are prevalent in lung cancer patients and sensitive to targeted EGFR inhibition. A resistance mutation in exon 20 (T790M) has been found to accompany drug treatment when patients relapse. ","55192892622b194345000012_009":"Ubiquitination, endocytosis, and lysosomal degradation of the IFNAR1 (interferon alpha receptor 1) subunit of the type I interferon (IFN) receptor is mediated by the SCFbeta-Trcp (Skp1-Cullin1-F-box protein beta transducin repeat-containing protein) E3 ubiquitin ligase in a phosphorylation-dependent manner","5891f9e549702f2e01000002_004":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is a sensory-motor neurological disorder with a circadian component.","58a32efe60087bc10a000013_057":" (methicillin-resistant Staphylococcus aureus) MRSA ","532f55fed6d3ac6a34000036_003":"(GD) results from a deficiency of the lysosomal enzyme glucocerebrosidase","56d19a363975bb303a000017_001":"We identified MDM two binding protein (MTBP) as a factor that interacts with Treslin\/TICRR throughout the cell cycle. We show that MTBP depletion by means of small interfering RNA inhibits DNA replication by preventing assembly of the CMG (Cdc45-MCM-GINS) holohelicase during origin firing. Although MTBP has been implicated in the function of the p53 tumor suppressor, we found MTBP is required for DNA replication irrespective of a cell's p53 status. We propose that MTBP acts with Treslin\/TICRR to integrate signals from cell cycle and DNA damage response pathways to control the initiation of DNA replication in human cells.","54db62a3034aea571d000001_005":"Sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) is the pump crucial for calcium homeostasis and its impairment results in pathologies such as myopathy, heart failure or diabetes.","531464a6e3eabad021000014_049":"Here, we present an immunohistochemical study in skeletal muscle of normal controls and a McLeod patient with a XK gene point mutation (C977T) using affinity-purified antibodies against XK and Kell proteins.","58a2e5f760087bc10a000007_010":"Identification of protein interfaces between \u03b1-synuclein, the principal component of Lewy bodies in Parkinson disease, and the molecular chaperones human Hsc70 and the yeast Ssa1p","54f9c40ddd3fc62544000001_003":"Calcineurin signaling has been implicated in a broad spectrum of developmental processes in a variety of organ systems. Calcineurin is a calmodulin-dependent, calcium-activated protein phosphatase composed of catalytic and regulatory subunits. The serine\/threonine-specific phosphatase functions within a signal transduction pathway that regulates gene expression and biological responses in many developmentally important cell types. Calcineurin signaling was first defined in T lymphocytes as a regulator of nuclear factor of activated T cells (NFAT) transcription factor nuclear translocation and activation.","5a4e50b242878bf97d000001_002":"Disruption of one copy of the gene in a diploid yeast creates a recessive lethal mutation, indicating that the single DNA topoisomerase II gene of yeast has an essential function.","55421ee7ccca0ce74b000002_013":"Inhibition of tumor angiogenesis by p53: a new role for the guardian of the genome.","5abbe429fcf456587200001c_006":"Apixaban (Eliquis\u00ae) is an oral, direct factor Xa inhibitor that is available for use in the treatment and secondary prevention of venous thromboembolism (VTE).","56c1d857ef6e394741000033_002":"OBJECTIVE: The present study aimed at evaluating the effect of opicapone, a third generation nitrocatechol catechol-O-methyltransferase (COMT) inhibitor, on the systemic and central bioavailability of 3,4-dihydroxy-l-phenylalanine (levodopa) and related metabolites in the cynomolgus monkey.","58adc1ff9ef3c34033000006_004":"TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP","54cf7051f693c3b16b000013_005":"CONCLUSIONS: In patients with acute ischemic stroke caused by a proximal intracranial occlusion of the anterior circulation, intraarterial treatment administered within 6 hours after stroke onset was effective and safe. (Funded by the Dutch Heart Foundation and others; MR CLEAN Netherlands Trial Registry number, NTR1804, and Current Controlled Trials number, ISRCTN10888758.).","588f9f83ed9bbee70d000004_004":"Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.In search for the pathophysiology and causative agent of VE, we performed a cross-sectional study on clinical, serological and neuroimaging data on chronic VE patients during two medical expeditions to three villages within the Viliuiski river basin in the Republic of Sakha in 2000 and to the capital Yakutsk in 2006.","55180ef46487737b43000006_009":"BACKGROUND: A life-long gluten-free diet is the treatment of choice for dermatitis herpetiformis, which is considered to be coeliac disease of the skin. ","53357193d6d3ac6a34000047_027":"Tofacitinib monotherapy at \u22653 mg twice a day was efficacious in the treatment of patients with active RA over 24 weeks and demonstrated a manageable safety profile.","5519113b622b19434500000f_028":"At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function","5a6e2578b750ff445500003d_001":"diffloop: a computational framework for identifying and analyzing differential DNA loops from sequencing data.","53262cdcd6d3ac6a34000003_001":"she was treated for CSF leak using an epidural blood patch.","531464a6e3eabad021000014_023":"The McLeod phenotype is derived from various forms of XK gene defects that result in the absence of XK protein, and is defined hematologically by the absence of Kx antigen, weakening of Kell system antigens, and red cell acanthocytosis. ","5880dba9c872c95565000009_005":"Importantly, 2 other CDK4\/6 inhibitors, abemaciclib (LY2835219; Lilly) and ribociclib (LEE011; Novartis), are in the late stage of clinical development. ","5a7237672dc08e987e000008_029":"Idarucizumab neutralised plasma concentrations of dabigatran, and reversed the effects of the drug on coagulation variables.","5506c3e38e1671127b00000a_014":"We have recently shown that the Na(+)\/Ca(2+) exchanger (NCX) is involved in nitric oxide (NO)-induced cytotoxicity in cultured astrocytes and neurons. However, there is no in vivo evidence suggesting the role of NCX in neurodegenerative disorders associated with NO. NO is implicated in the pathogenesis of neurodegenerative disorders such as Parkinson's disease. This study examined the effect of SEA0400, the specific NCX inhibitor, on 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced dopaminergic neurotoxicity, a model of Parkinson's disease, in C57BL\/6J mice.","53262cdcd6d3ac6a34000003_005":"In this case, a 17-yr-old girl had symptoms of a low-pressure headache after LP shunt placement alleviated by an epidural blood patch.","58cdb41302b8c60953000042_024":"classic form of Ehlers-Danlos syndrome (cEDS) is an inherited connective tissue disorder, where mutations in type V collagen-encoding genes result in abnormal collagen fibrils. Thus the cEDS patients have pathological connective tissue morphology and low stiffness, but the rate of connective tissue protein turnover is unknown","56d19a363975bb303a000017_002":"We identified MDM two binding protein (MTBP) as a factor that interacts with Treslin\/TICRR throughout the cell cycle","5880aef4c872c95565000001_007":"Daratumumab is a novel human CD38 monoclonal antibody which kills CD38+ multiple myeloma cells via antibody-dependent cell-mediated cytotoxicity, complement-dependent cytotoxicity and apoptosis.To explore the effect of lenalidomide combined with daratumumab, we first carried out standard antibody-dependent cell-mediated cytotoxicity and complement-dependent cytotoxicity assays in which the CD38+ multiple myeloma cell line UM-9 and primary multiple myeloma cells isolated from patients were used as target cells","5a8980d2fcd1d6a10c00000d_004":"Uncoupling protein 1 (UCP1) is the hallmark protein responsible for cold- and diet-induced thermogenesis in brown adipose tissue (BAT).","5a4df811966455904c00000e_006":"The eukaryotic transcription factor TFIIS enhances elongation and nascent transcript cleavage activities of RNA polymerase II in a stalled elongation complex.","58eb9542eda5a57672000007_008":"Coilin, more than a molecular marker of the cajal (coiled) body","5324a8ac9b2d7acc7e000018_019":"CML is a myeloproliferative disorder characterized by the presence of the Philadelphia chromosome or the BCR-ABL fusion oncogene","532dcfc9d6d3ac6a34000021_020":"SET domain contains the catalytic center of lysine methyltransferases that target the N-terminal tails of histones and regulate chromatin function","517901bc8ed59a060a00003b_001":"PD-1 blockade by CT-011, anti-PD-1 antibody,","58d8e6818acda3452900000a_045":"We here report 22 novel and 9 recurrent mutations in the FBN1 gene in 36 patients with clinical features of Marfan syndrome.","5a9e202bde7cb99d40000002_001":"We used proximity extension immunoassay (PEA, Proseek Multiplex, Olink) to assess the serum levels of ninety-two inflammation-related proteins in Czech patients with SLE (n\u00a0=\u00a075) and age-matched healthy control subjects (n\u00a0=\u00a023).","54fc91e96ad7dcbc12000001_005":"Small molecules targeting Abeta-metal interactions (e.g., PBT2) are currently advancing through clinical trials and show increasing promise as disease-modifying agents for Alzheimer's disease based on the \"metal hypothesis.\"","551fd9c06b348bb82c000012_007":" Two adult stroke recognition tools; ROSIER (Recognition of Stroke in the Emergency Room) and FAST (Face Arm Speech Test) scales were applied retrospectively to all patients to determine test sensitivity. ","56c1f020ef6e394741000047_013":"Of the 91 patients, there were 50 patients with ILAE focal cortical dysplasia type Ib, 41 with ILAE focal cortical dysplasia type Ic, 63 with Palmini et al focal cortical dysplasia type IA, and 28 with Palmini et al focal cortical dysplasia type IB.","5ace19420340b9f05800000a_043":"We describe a minisequencing protocol for screening DNA samples for the presence of 12 mutations in the human melanocortin 1 receptor gene (MC1R), eight of which are associated with the red hair phenotype.","52bf1f2d03868f1b06000015_002":"They were injected subcutaneously (s.c.) with L-Dopa methyl ester (125 mg per animal) plus benserazide (50 mg per animal; L-Dopa\/benserazide) alone or in combination with JL-18 (at the doses of 0.1, 0.3, or 0.9 mg\/kg, s.c.).","58cdb41302b8c60953000042_017":"The Ehlers-Danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders.","58e23ec66fddd3e83e000010_001":"European honey bee (Apis mellifera)","5abbe429fcf456587200001c_001":"The direct factor Xa inhibitor apixaban (Eliquis(\u00ae)) has predictable pharmacodynamics and pharmacokinetics and does not require routine anticoagulation monitoring.","5880c42fc872c95565000008_001":"INTRODUCTION: Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) are increasingly being used for the treatment of type 2 diabetes mellitus, but consideration of benefits and potential adverse events is required. This review examines the state of glycemic control, weight loss, blood pressure, and tolerability, as well as the current debate about the safety of GLP-1 RAs, including risk of pancreatitis, pancreatic cancer, and thyroid cancer.METHODS: A MEDLINE search (2010-2015) identified publications that discussed longer-acting GLP-1 RAs. Search terms included GLP-1 receptor agonists, liraglutide, exenatide, lixisenatide, semaglutide, dulaglutide, albiglutide, efficacy, safety, pancreatitis, pancreatic cancer, and thyroid cancer.","511a3573df1ebcce7d000018_007":"Tissue kallikrein genes (KLKs) are found on chromosome 19q13.3-4 as a gene cluster encoding 15 different serine proteases.","5a895f51fcd1d6a10c000004_006":"ccctc binding factor ctcf is an architectural protein involved in the three dimensional 3d organization of chromatin in this study we assayed the 3d genomic contact profiles of a large number of ctcf binding sites with high resolution 4c seq as recently reported our data also suggest that chromatin loops preferentially form between ctcf binding sites oriented in a convergent manner to directly test this we used crispr cas9 genome editing to delete core ctcf binding sites in three loci including the ctcf site in the sox2 super enhancer in all instances ctcf and cohesin recruitment were lost and chromatin loops with distal convergent ctcf sites were disrupted or destabilized re insertion of oppositely oriented ctcf recognition sequences restored ctcf and cohesin recruitment but did not re establish chromatin loops we conclude that ctcf binding polarity plays a functional role in the formation of higher order chromatin structure.","54df695b1388e8454a000004_002":"Lubag disease is a genetic X-linked dystonia-parkinsonism syndrome afflicting Filipino men. ","51651e24298dcd4e51000054_003":"Compounds were tested in cell-based assays against viruses representative of: i) two of the three genera of the Flaviviridae family, i.e. Flaviviruses and Pestiviruses; ii) other RNA virus families, such as Retroviridae, Picornaviridae, Paramyxoviridae, Rhabdoviridae and Reoviridae; iii) two DNA virus families (Herpesviridae and Poxviridae).","551fd9c06b348bb82c000012_022":"The ROSIER scale was effective in the initial differentiation of acute stroke from stroke mimics in the ER.","5ace1a590340b9f05800000b_001":"Approximately 2-4% of genetic material in human populations outside Africa is derived from Neanderthals who interbred with anatomically modern humans. ","55180ef46487737b43000006_017":"BACKGROUND: Dermatitis herpetiformis (DH) is a chronic papulovesicular immune-mediated disorder associated with gluten-sensitive enteropathy. ","58cdb41302b8c60953000042_004":"The Ehlers-Danlos syndromes (EDS) comprise a heterogenous group of heritable disorders of connective tissue, characterized by joint hypermobility, skin hyperextensibility and tissue fragility.","56f6c11109dd18d46b00000e_001":" the CsA receptor, cyclophilin","56c079b1ef6e394741000022_001":"Idarucizumab Improves Outcome in Murine Brain Hemorrhage Related to Dabigatran.","52bf1f2d03868f1b06000015_001":"Co-administration of L-Dopa with peripheral DDC inhibitors (carbidopa or benserazide) is the most effective symptomatic treatment for PD.","5357a6d0f1005d6b58000004_003":"Intron F contains a fully consensus branch site sequence (UUCCUUAAC)","5a6f98e6b750ff445500005d_001":"Posterior cruciate ligament (PCL) injuries have a reported incidence of between 3 and 37%, depending on the clinical setting. The most common mechanism of injury in motor vehicle accidents is a dashboard injury or direct force to the proximal anterior tibia.","5314bd7ddae131f847000006_008":"Donohue syndrome (DS) is a rare autosomal recessive condition caused by mutations in the gene encoding the insulin receptor.","571e14fbbb137a4b0c000001_009":"Rationale, design and baseline characteristics of a 4-year (208-week) phase III trial of empagliflozin, an SGLT2 inhibitor, versus glimepiride as add-on to metformin in patients with type 2 diabetes mellitus with insufficient glycemic control.","55203ae78e534a4535000001_001":"Psoriasin (S100A7), originally identified in psoriasis, is a calcium-binding protein belonging to the multigenic S100 family","531464a6e3eabad021000014_012":"A novel XK splice site mutation (IVS1-1G>A) has been identified in a McLeod patient who has developed hematologic, neuromuscular, and neurologic symptoms. This is the first reported example of a XK point mutation affecting the 3' acceptor splice site of Intron 1, and it was demonstrated that this mutation indeed induces aberrant splicing of XK RNA and lack of XK protein at the RBC membrane.","56ae6e650a360a5e4500000e_004":"We report the development of OikoBase (http:\/\/oikoarrays.biology.uiowa.edu\/Oiko\/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates. OikoBase facilitates retrieval and mining of a variety of useful genomics information. First, it includes a genome browser which interrogates 1260 genomic sequence scaffolds and features gene, transcript and CDS annotation tracks. Second, we annotated gene models with gene ontology (GO) terms and InterPro domains which are directly accessible in the browser with links to their entries in the GO (http:\/\/www.geneontology.org\/) and InterPro (http:\/\/www.ebi.ac.uk\/interpro\/) databases, and we provide transcript and peptide links for sequence downloads. Third, we introduce the transcriptomics of a comprehensive set of developmental stages of O. dioica at high resolution and provide downloadable gene expression data for all developmental stages. Fourth, we incorporate a BLAST tool to identify homologs of genes and proteins. Finally, we include a tutorial that describes how to use OikoBase as well as a link to detailed methods, explaining the data generation and analysis pipeline. OikoBase will provide a valuable resource for research in chordate development, genome evolution and plasticity and the molecular ecology of this important marine planktonic organism.","58b6978822d300530900000a_007":"The sequences that are effective to silence APP(SW) and APP(LON) as identified in this study may be useful in both in vivo and in vitro studies to investigate the pathophysiological role of APP(SW) and APP(LON) in AD development.","52fe58f82059c6d71c00007a_002":"multiple DNA replication origins are a hallmark of Eukaryotes and some Archaea","56f564f909dd18d46b000009_002":"Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease resulting from mutations in the LYST\/CHS1 gene, which encodes for a 429\u00a0kDa protein, CHS1\/LYST, that regulates vesicle trafficking and determines the size of lysosomes and other organelles.","514a0a57d24251bc05000051_027":"Flumazenil rapidly and effectively reverses the clinical signs and symptoms of a BDZ overdose.","54d8ea2c4b1fd0d33c000002_003":"Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting up to 1-1.5% of the population.","51651e24298dcd4e51000054_002":"Compounds were tested in cell-based assays against viruses representative of: i) two of the three genera of the Flaviviridae family, i.e. Pestiviruses and Flaviviruses;","52fa6ac72059c6d71c000055_005":"Bach1) is a transcriptional repressor of heme oxygenase-1 (HO-1)","54f9c40ddd3fc62544000001_004":"Calcineurin signaling has been implicated in a broad spectrum of developmental processes in a variety of organ systems. Calcineurin is a calmodulin-dependent, calcium-activated protein phosphatase composed of catalytic and regulatory subunits. The serine\/threonine-specific phosphatase functions within a signal transduction pathway that regulates gene expression and biological responses in many developmentally important cell types. Calcineurin signaling was first defined in T lymphocytes as a regulator of nuclear factor of activated T cells (NFAT) transcription factor nuclear translocation and activation.","58eb9542eda5a57672000007_004":"coilin is tightly associated with nucleic acid, displays RNase activity in vitro, and is redistributed to the ribosomal RNA (rRNA)-rich nucleoli in cells treated with the DNA-damaging agents cisplatin and etoposide","516be1d6298dcd4e5100006a_002":"Most cases were sporadic, but in addition there were instances of both autosomal dominant and autosomal recessive inheritance, while two families showed mosaicism for dominant mutations.","530cf4c54a5037880c000008_017":"More recently, several KIs have been developed to target the proximal B-cell receptor (BCR) signaling pathway including spleen tyrosine kinase inhibitor (Fostamatinib) and Bruton's tyrosine kinase inhibitors (Ibrutinib, AVL-263). ","56c1f03bef6e394741000053_001":"Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1\/TTF1) mutations.","5343fc1aaeec6fbd07000003_017":"mutations of the NF1 gene have been reported in patients with neurofibromatosis type 1 (NF1)","56ecfd572ac5ed1459000002_012":"Carfilzomib and its orally bioavailable structural analog oprozomib are second-generation, highly-selective, proteasome inhibitors. However, the mechanisms of acquired resistance to carfilzomib and oprozomib are incompletely understood, and effective strategies for overcoming this resistance are needed.","53357193d6d3ac6a34000047_026":"OBJECTIVE: To compare the efficacy, safety, and tolerability of 5 doses of oral tofacitinib (CP-690,550) or adalimumab monotherapy with placebo for the treatment of active rheumatoid arthritis (RA) in patients with an inadequate response to disease-modifying antirheumatic drugs.","5a6a3335b750ff4455000025_003":"We present emMAW, the first external-memory algorithm for computing minimal absent words.","589185cc621ea6ff7e00000b_020":"To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).","5a6d08d5b750ff445500002c_001":"The Ctf4\/AND-1 protein hub, which links DNA replication, repair, and chromosome segregation, represents a novel target for the synthetic lethality approach. Herein, we report the design, optimization, and validation of double-click stapled peptides encoding the Ctf4-interacting peptide (CIP) of the replicative helicase subunit Sld5. By screening stapling positions in the Sld5 CIP, we identified an unorthodox i,i+6 stapled peptide with improved, submicromolar binding to Ctf4. The mode of interaction with Ctf4 was confirmed by a crystal structure of the stapled Sld5 peptide bound to Ctf4. The stapled Sld5 peptide was able to displace the Ctf4 partner DNA polymerase\u2005\u03b1 from the replisome in yeast extracts. Our study provides proof-of-principle evidence for the development of small-molecule inhibitors of the human CTF4 orthologue AND-1.","5710e131a5ed216440000001_015":"Clonal size-variation of rDNA cluster region on chromosome XII of Saccharomyces cerevisiae.","511a3573df1ebcce7d000018_004":"The 15 human and 24 mouse kallikreins have been implicated in pathophysiology of brain, kidney, and respiratory and reproductive systems and often are used as cancer biomarkers.","58eb9542eda5a57672000007_018":"Cajal bodies (CB) are subnuclear domains that contain various proteins with diverse functions including the CB marker protein coilin","58f4b25e70f9fc6f0f000011_006":"Risk of Acute Liver Failure in Patients With Drug-Induced Liver Injury: Evaluation of Hy's Law and a New Prognostic Model.","571f33bd0fd6f91b68000003_013":"There are two types of mutations that cause NSD1 haploinsufficiency: mutations within the NSD1 gene (mutation type) and a 5q35 submicroscopic deletion encompassing the entire NSD1 gene (deletion type). ","588f9950ed9bbee70d000002_003":"BACKGROUND: PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome. ","5a76179d83b0d9ea66000021_004":"Whole-genome sequencing (WGS) data are being generated at an unprecedented rate. Analysis of WGS data requires a flexible data format to store the different types of DNA variation. Variant call format (VCF) is a general text-based format developed to store variant genotypes and their annotations. However, VCF files are large and data retrieval is relatively slow. Here we introduce a new WGS variant data format implemented in the R\/Bioconductor package 'SeqArray' for storing variant calls in an array-oriented manner which provides the same capabilities as VCF, but with multiple high compression options and data access using high-performance parallel computing.Results: Benchmarks using 1000 Genomes Phase 3 data show file sizes are 14.0\u2009Gb (VCF), 12.3\u2009Gb (BCF, binary VCF), 3.5\u2009Gb (BGT) and 2.6\u2009Gb (SeqArray) respectively. Reading genotypes in the SeqArray package are two to three times faster compared with the htslib C library using BCF files. For the allele frequency calculation, the implementation in the SeqArray package is over 5 times faster than PLINK v1.9 with VCF and BCF files, and over 16 times faster than vcftools. When used in conjunction with R\/Bioconductor packages, the SeqArray package provides users a flexible, feature-rich, high-performance programming environment for analysis of WGS variant data.","5891b125621ea6ff7e00000e_002":"Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries. ","54fc99f36ad7dcbc12000004_003":"Bilateral pallidal deep brain stimulation (BP-DBS) of the globus pallidus internus (GPi) is an effective treatment for primary dystonia, but the effect of this reversible surgical procedure on dystonia-choreoathetosis CP, which is a subtype of secondary dystonia, is unknown. ","5710a592cf1c32585100002a_001":"Transcription of the major Bacillus anthracis virulence genes is triggered by CO2, a signal mimicking the host environment. ","533ea8fcc45e133714000010_003":"Sec is inserted by a specific translational machinery that recognizes a stem-loop structure, the SECIS element","5891c90949702f2e01000001_016":"In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","54f1e031c409818c32000001_003":"Several novel therapies have completed phase III trials in the US, including: (i) plasma-derived C1-INH replacement therapies (Berinert P and Cinryze); (ii) a recombinant C1-INH replacement therapy (conestat alfa; Rhucin); (iii) a kallikrein inhibitor (ecallantide [DX-88]); and (iv) a bradykinin-2-receptor antagonist (icatibant).","56c04412ef6e39474100001b_028":"We hypothesized that the observed panreactivity reflected DARA binding to CD38 on reagent RBCs, and we investigated methods to prevent this binding.STUDY DESIGN AND METHODS: DARA binding to CD38+ or CD38- HL60 cells was assessed by flow cytometry.","589a246078275d0c4a00002a_040":"In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial.","55054f8af73303d458000002_002":"With the high sensitivity of current generation mass spectrometers, ZooMS provides a non-destructive and highly cost-effective method to characterise collagen peptides.","58bca2f302b8c6095300000c_009":"Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome.","532498959b2d7acc7e000017_001":"Short oligonucleotide N3'-->P5' thio-phosphoramidate conjugated to 5'-palmitoyl group, designated as GRN163L (Imetelstat), was recently introduced as a potent human telomerase inhibitor","54ff45966ad7dcbc12000010_006":"Deficiency in the serine protease inhibitor LEKTI is the etiological origin of Netherton syndrome, which causes detachment of the stratum corneum and chronic inflammation. ","52c7275103868f1b0600001c_001":"The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations.","56bc751eac7ad10019000013_004":"Acrokeratosis paraneoplastica Bazex syndrome associated with esophageal squamocellular carcinoma.","54cf7051f693c3b16b000013_002":"INTRODUCTION: A recent randomized controlled trial (RCT), the Multicenter Randomized CLinical trial of Endovascular treatment for Acute ischemic stroke in the Netherlands (MR CLEAN), demonstrated better outcomes with endovascular treatment compared with medical therapy for acute ischemic stroke (AIS). ","52bf1d9e03868f1b06000010_013":"Denosumab (AMG 162), a fully human monoclonal antibody to RANKL, shares the pharmacologic attributes of OPG but has a significantly longer half-life that allows less frequent administration.","530cefaaad0bf1360c000012_010":"The authors propose that PPIs, such as omeprazole, may interfere with iron absorption in certain patients and that a subpopulation of patients who develop significant iron deficiency characterized by low serum ferritin levels while on PPIs may also develop RLS-like symptoms (including RLSAP).","56bc751eac7ad10019000013_006":"Acrokeratosis paraneoplastica: Bazex syndrome.","56bc77a3ac7ad10019000015_017":"AS01 has been selected for the clinical development of several candidate vaccines including the RTS,S malaria vaccine and the subunit glycoprotein E varicella zoster vaccine (both currently in phase III)","56e0447a51531f7e3300000b_013":"The database of the smallest known auto-replicable RNA species: viroids and viroid-like RNAs.","5880a8ec0a76a87357000001_001":"CAFE: an R package for the detection of gross chromosomal abnormalities from gene expression microarray data","54d649843706e89528000009_002":"the PARP inhibitor olaparib","5505a587f73303d458000005_005":"mammalian target of rapamycin (mTOR) ","5884c72fe56acf517600000f_001":"Several drugs targeting PD-1 (pembrolizumab and nivolumab) or PD-L1 (atezolizumab, durvalumab, and avelumab) have been approved or are in the late stages of development.","5545186cbf90a13052000002_006":"Among these is a process called transcription-coupled repair (TCR) that catalyzes the removal of DNA lesions from the transcribed strand of expressed genes, often resulting in a preferential bias of damage clearance from this strand relative to its non-transcribed counterpart.","58cdb41302b8c60953000042_005":"Ehlers-Danlos syndrome denotes a group of inherited connective tissue diseases comprising nine types.","5ace37d50340b9f058000011_003":"<b>BACKGROUND<\/b>: Cryptococcal disease is an opportunistic infection that causes significant morbidity and mortality in adults with HIV.","5353aedb288f4dae47000006_027":"initiation of X-chromosome inactivation are critically dependent on the expression of the X-inactive specific transcript (Xist)","58eb9542eda5a57672000007_023":"Perturbation of SMN function results in disassembly of Cajal bodies and relocalization of the marker protein, coilin, to nucleoli.","5a6a3464b750ff4455000026_009":"A solution for these inconsistencies would be to identify a suitable rotation (cyclic shift) for each sequence; these refined sequences may in turn lead to improved multiple sequence alignments using the preferred multiple sequence alignment program.<br><b>RESULTS<\/b>: We present MARS, a new heuristic method for improving Multiple circular sequence Alignment using Refined Sequences.","5a68f005b750ff4455000016_019":"OBJECTIVE At present, the most frequently investigated psychosocial intervention for borderline personality disorder (BPD) is dialectical behavior therapy (DBT).","58b6978822d300530900000a_005":"A pathological hallmark in the brain of an AD patient is extracellular amyloid plaques formed by accumulated beta-amyloid protein (Abeta), a metabolic product of amyloid precursor protein (APP). Studies have revealed a strong genetic linkage in the early-onset familial form (<60 years old) of AD. For example, some mutant APPs are transmitted dominantly and are segregated with inheritance of early onset AD. These mutants facilitate Abeta production. The \"Swedish\" mutations (APP(SW)) and the \"London\" mutation (APP(LON)) are examples of these mutants. ","5880aef4c872c95565000001_010":"Towards effective immunotherapy of myeloma: enhanced elimination of myeloma cells by combination of lenalidomide with the human CD38 monoclonal antibody daratumumab.","58bc5e2202b8c60953000002_001":"UBQLN2 mutations are detected in ALS cases.","5324bdba9b2d7acc7e00001a_009":"ultrasound for bladder wall thickness (BWT)","551fd9c06b348bb82c000012_008":" DIAGNOSTIC SCALES: The results of an assessment with the Recognition of Stroke in the Emergency Room (ROSIER) scale, the Face Arm Speech Test (FAST) scale and the diagnosis of definite or probable stroke by an emergency department.","5ace19420340b9f05800000a_007":"This paper reviews the path of discovery of the MC1R in control of animal coat colour, the subsequent role of MC1R in human physiology and possibly wider role of MC1R in human skin carcinogenesis and human development through history.","531464a6e3eabad021000014_030":"DNA studies demonstrated a single-base deletion at position 172 in exon 1 of the XK gene, giving rise to a premature stop codon at position 129 in exon 2.","588f2de394c1512c50000001_002":"The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The output graphics, saved in two different formats (EPS and SVG), can be easily imported to and modified in presentation and image-editing computer programs. The tool is freely distributed under GNU General Public License (GPL) and can be installed from Bioconductor or from the chromDraw home page.","58eb9542eda5a57672000007_015":"Coilin is a marker protein for subnuclear organelles known as Cajal bodies, which are sites of various RNA metabolic processes including the biogenesis of spliceosomal small nuclear ribonucleoprotein particles.","5a742d620384be9551000002_021":"<b>BACKGROUND<\/b>: The present study validates and evaluates the sensitivity and specificity of four internationally popular questionnaires, translated into Chinese, for assessing suspected obstructive sleep apnea (OSA) patients, namely, the Berlin questionnaire, the ASA checklist, the STOP questionnaire and the STOP-BANG questionnaire.","54cf45e7f693c3b16b00000a_001":"Calsequestrin (CS) is the low-affinity, high-capacity calcium binding protein segregated to the lumen of terminal cisternae (TC) of the sarcoplasmic reticulum (SR).","58e9e7aa3e8b6dc87c00000d_004":"Genetic Determinants of RNA Editing Levels of ADAR Targets in Drosophila melanogaster.","54fc91e96ad7dcbc12000001_002":"Experimental treatments potentially useful for Alzheimer's disease include dimebon, PBT2 and etanercept; the safety and efficacy of the Alzheimer's vaccine remains to be proven, and growth hormone secretagogue and tarenflurbil are likely ineffective. ","51631154298dcd4e5100004e_005":"the use of thalidomide to treat multiple myeloma, and describe problems arising in the Thaled\u00ae outpatient department. METHODS: Multiple myeloma patients treated with thalidomide at Hitachi General Hospital.","55421ee7ccca0ce74b000002_002":"The major tumour suppressor protein, p53, is one of the most well-studied proteins in cell biology. Often referred to as the Guardian of the Genome, the list of known functions of p53 include regulatory roles in cell cycle arrest, apoptosis, angiogenesis, DNA repair and cell senescence.","5519113b622b19434500000f_019":"ZFHX1B encodes Smad-interacting protein 1, a transcriptional corepressor involved in the transforming growth factors beta (TGFbeta) signaling pathway","58a57f9460087bc10a00001f_016":"In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and hypopigmentation. ","516e7fda298dcd4e51000081_004":"When the serine residue is mutated to glutamic acid, which mimics the phosphorylated serine residue, the mutant CARM1 exhibits diminished ability to bind the methyl donor adenosylmethionine and diminished histone methylation activity.","5a67ab79b750ff445500000b_003":"The cytokine response during pneumonia is different in bacterial vs viral infections; some of these cytokines correlate with clinical severity scales such as CURB65 or SOFA. ","5891f9e549702f2e01000002_007":"Reported prevalence of restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), varies from country to country, and methodologic inconsistencies limit comparison of data","5895bc397d9090f35300000b_006":"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+\/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6.","5890e163621ea6ff7e000004_013":"Given that tanezumab is an antibody, the drug demonstrates the general advantages of this class of products (including good specificity and favorable pharmacokinetics), and also appears to be particularly well suited for targeting the chronic and inflammatory-mediating pain actions of NGF and its receptor system..","532f55fed6d3ac6a34000036_010":"aucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase","58e74bff3e8b6dc87c000004_002":"Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.","55200c606b348bb82c000013_003":"Most are small synthetic molecules that target thrombin (e.g. dabigatran etexilate) or factor Xa (e.g. rivaroxaban, apixaban, edoxaban, betrixaban, YM150). ","550af222c2af5d5b7000000b_002":"IKK activation and I\u03baB degradation involve different ubiquitination modes; the latter is mediated by a specific E3 ubiquitin ligase SCF(\u03b2-TrCP) . The F-box component of this E3, \u03b2-TrCP, recognizes the I\u03baB degron formed following phosphorylation by IKK and thus couples I\u03baB phosphorylation to ubiquitination. SCF(\u03b2-TrCP) -mediated I\u03baB ubiquitination and degradation is a very efficient process, often resulting in complete degradation of the key inhibitor I\u03baB\u03b1 within a few minutes of cell stimulation. In vivo ablation of \u03b2-TrCP results in accumulation of all the I\u03baBs and complete NF-\u03baB inhibition. ","56df03c751531f7e3300000a_001":"m(6)A predominantly and directly reduces mRNA stability, including that of key na\u00efve pluripotency-promoting transcripts. ","5a7d6287faa1ab7d2e00001c_001":"Here we show that GDF15 binds specifically to GDNF family receptor \u03b1-like (GFRAL) with high affinity, and that GFRAL requires association with the coreceptor RET to elicit intracellular signaling in response to GDF15 stimulation. ","52bf1f1303868f1b06000014_001":"Peroxiredoxin-2 (PRDX-2) is an antioxidant and chaperone-like protein critical for cell function.","5ace19420340b9f05800000a_023":"The association signals at the MC1R gene locus from CDH were uniformly more significant than traditional GWA analyses (the most significant P for CDH\u200a=\u200a3.11\u00d710\u207b\u00b9\u2074\u00b2 vs. P for rs258322\u200a=\u200a1.33\u00d710\u207b\u2076\u2076). The CDH test will contribute towards finding rare LOF variants in GWAS and sequencing studies.","54d649843706e89528000009_006":" olaparib, a PARP inhibitor, ","552fac4fbc4f83e828000006_004":"The Ewing family of tumors harbors chromosomal translocations that join the N-terminal region of the EWS gene with the C-terminal region of several transcription factors of the ETS family, mainly FLI1, resulting in chimeric transcription factors that play a pivotal role in the pathogenesis of Ewing tumors. To identify downstream targets of the EWS\/FLI1 fusion protein, we established 293 cells expressing constitutively either the chimeric EWS\/FLI1 or wild type FLI1 proteins and used cDNA arrays to identify genes differentially regulated by EWS\/FLI1","5a774fdcfaa1ab7d2e000008_004":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5540b9800083d1bf0e000002_001":"\u03b1- and \u03b2-spectrin by LC-MS\/MS identifies Cys in these antiparallel chains","55242d512c8b63434a000006_004":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent antagonist of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (9, 10). This led to the development of 3-{2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl}-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (11). ","5343fc1aaeec6fbd07000003_022":"type 1 (NF1) is one of the most common human genetic disorders and is associated with significant morbidity and mortality. The gene responsible for this disorder, NF1, encodes neurofibromin,","5880b812c872c95565000006_009":"CONCLUSIONS: The study demonstrates proof of concept for a dapivirine-releasing diaphragm with daily release quantities potentially capable of preventing HIV transmission. ","5343caffaeec6fbd07000002_005":"Selenoprotein P is unique in that its mRNA encodes 10-12 selenocysteine residues","54e0d7471388e8454a000015_001":"PURPOSE: To determine the efficacy and safety of different doses of secukinumab, a fully human monoclonal antibody for targeted interleukin-17A blockade, in patients with noninfectious uveitis.","56bc77a3ac7ad10019000015_025":"Meningitis was reported as a serious adverse event in 16\/5,949 and 1\/2,974 children and in 9\/4,358 and 3\/2,179 infants in the RTS,S\/AS01 and control groups, respectively.CONCLUSIONS: RTS,S\/AS01 prevented many cases of clinical and severe malaria over the 18 mo after vaccine dose 3, with the highest impact in areas with the greatest malaria incidence. ","5a7237672dc08e987e000008_027":"Idarucizumab is a specific antidote targeted to reverse the direct thrombin inhibitor, dabigatran, which was recently approved for use in the USA.","51631154298dcd4e5100004e_006":"Thalidomide showed some success in treating multiple myeloma either after auto-PBSCT or following treatment with bortezomib. In the case demonstrating hematotoxicity Grade 3 (in addition to neutropenia), grave complications could have very easily developed, thus underscoring the importance of careful monitoring.","5a896c26fcd1d6a10c000007_015":"The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia.","58eb9542eda5a57672000007_011":"Here, I would like to discuss what we have learned about coilin and suggest a possible role for coilin in RNA processing and cellular trafficking, especially in relation to Cajal bodies and nucleoli. ","5540b9800083d1bf0e000002_004":"Spectrins comprise \u03b1- and \u03b2-subunits made up predominantly of a series of homologous repeating units of about 106 amino acids; the \u03b1- and \u03b2-chains form antiparallel dimers by lateral association","53398855d6d3ac6a3400005b_002":"bromodomain proteins bind to acetylated lysines in histones","56f7c15a09dd18d46b000012_007":"A splice site mutation confirms the role of LPIN2 in Majeed syndrome.","5a761ac3aacfb9cd4c000002_005":"Large pleural tumor revealed by severe hypoglycemia: Doege-Potter syndrome.","5895f7e978275d0c4a000001_002":"Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks.","58d906b28acda3452900000d_003":"The disorder is caused by mutations in the tafazzin (TAZ\/G4.5) gene located on Xq28.","5a7346662dc08e987e00001a_006":"puffy hand syndrome is a complication of intravenous drug abuse which has no current available treatment arm and forearm edema are voluminous and cause functional and aesthetic disturbances we report two cases successfully treated by low stretch bandages a 40 year old man and a 34 year old woman both intravenous drug users with puffy hand syndrome were hospitalized for 11 days treatment included daily multilayer bandaging lymphedema volumes calculated by utilizing the formula for a truncated cone decreased by 16 on the left side and 12 on the right side for the first patient and 31 and 17 for the second hand circumference decreased 4 3 cm on the left side and 3 2 cm on the right side in case 1 and 2 5 cm and 1 9 cm respectively for case 2 the patients were taught self bandaging techniques during their hospital stays elastic gloves were fitted at the end of treatment reduction of lymphedema volume remained stable after 18 months in one patient while for the second patient further treatment and hospitalization were required due to poor compliance the pathogenesis of this edema is probably multifactorial venous lymphatic insufficiency and the direct toxicity of injected drugs lymphedema treatment currently consists of low stretch bandaging and wearing elastic garments which is effective in decreasing the volume of puffy hand syndrome.","589635dd78275d0c4a000009_003":"In cancer research, background models for mutation rates have been extensively calibrated in coding regions, leading to the identification of many driver genes, recurrently mutated more than expected. Noncoding regions are also associated with disease; however, background models for them have not been investigated in as much detail. This is partially due to limited noncoding functional annotation. Also, great mutation heterogeneity and potential correlations between neighboring sites give rise to substantial overdispersion in mutation count, resulting in problematic background rate estimation. Here, we address these issues with a new computational framework called LARVA. It integrates variants with a comprehensive set of noncoding functional elements, modeling the mutation counts of the elements with a \u03b2-binomial distribution to handle overdispersion. LARVA, moreover, uses regional genomic features such as replication timing to better estimate local mutation rates and mutational hotspots. We demonstrate LARVA's effectiveness on 760 whole-genome tumor sequences, showing that it identifies well-known noncoding drivers, such as mutations in the TERT promoter. Furthermore, LARVA highlights several novel highly mutated regulatory sites that could potentially be noncoding drivers. We make LARVA available as a software tool and release our highly mutated annotations as an online resource (larva.gersteinlab.org).","587e2300fc7e8dd84f000004_005":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier. MethPed is available via Bioconductor: http:\/\/bioconductor.org\/packages\/MethPed\/","55421ee7ccca0ce74b000002_015":"The tumor suppressor p53, encoded by the TP53 gene, is recognized as the guardian of the human genome because it regulates many downstream genes to exercise its function in cell cycle and cell death.","56c048acef6e39474100001c_009":" Imetelstat, a phase 2 telomerase inhibitor, was used to elucidate the effect of telomerase inhibition on proliferation and tumorigenicity in established cell lines (BXD-1425EPN, R254), a primary TIC line (E520) and xenograft models of pediatric ependymoma. ","5a8b27e6fcd1d6a10c00001e_002":"RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods.","56e0447a51531f7e3300000b_012":"During 1970 and 1971, I discovered that a devastating disease of potato plants is not caused by a virus, as had been assumed, but by a new type of subviral pathogen, the viroid. Viroids are so small--one fiftieth of the size of the smallest viruses--that many scientists initially doubted their existence. ","55054f8af73303d458000002_019":"Mass spectrometric analysis of the stable carbon isotope composition (13C\/12C or delta 13C) of bone collagen from human remains recovered at archaeological sites provides a direct chemical method for investigating dietary patterns of prehistoric human populations.","51585b28d24251bc0500008d_010":"DMAP1 is a potent activator of DNMT1 methylation in vitro, suggesting that DMAP1 is a co-repressor that supports the maintenance and de novo action of DNMT1.","51585b28d24251bc0500008d_014":"Inheritance of epigenetic information encoded by cytosine DNA methylation patterns is crucial for mammalian cell survival, in large part through the activity of the maintenance DNA methyltransferase (DNMT1).","5540fbce234c5a7c75000001_003":"Macroautophagy is followed by chaperone-mediated autophagy (CMA), in which Hsc70 (Heat shock cognate 70) selectively binds proteins with exposed KFERQ motifs and pushes them inside lysosomes through the LAMP-2A (Lysosome-associated membrane protein type 2A) receptor","5149f494d24251bc0500004c_015":"To illustrate this problem, we report the case of a patient inappropriately treated with naloxone and the results of a retrospective review of the medical records of 15 consecutive patients with cancer treated with naloxone in the emergency department over a 5-month period. ","58a57f9460087bc10a00001f_023":"On some occasions, mutations of a gene cause different syndromes that may have similar phenotypes. For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997)","5881f627713cbdfd3d000005_002":"DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C.","58a5a51060087bc10a000021_002":"NOXO1 phosphorylation on serine 154 is critical for optimal NADPH oxidase 1 assembly and activation.","5324a8ac9b2d7acc7e000018_008":"CML) is a pluripotent hematopoietic disorder that is currently considered incurable. The tyrosine kinase product of the Philadelphia chromosome, P210 BCR-ABL, ","56ffdc1ccf1c32585100000b_004":"This study describes for the first time A-to-I editing in the coding sequence of a tumor suppressor gene in humans, and suggests that IGFBP7 editing serves as a fine-tuning mechanism to maintain the equilibrium between proliferation and senescence in normal skin.","52bf1b0a03868f1b06000009_004":"Inheritance seems most likely to be autosomal recessive","530cefaaad0bf1360c000012_016":"Clinical and animal studies that support the benefits of iron supplementation, independent of increasing hemoglobin, such as those on immune function, physical performance, thermoregulation, cognition, and restless leg syndrome and aluminum absorption is the subject of this narrative review.","5343fc1aaeec6fbd07000003_011":"tumor suppressor protein neurofibromin, which is mutated in NF1","571e2beabb137a4b0c000006_001":"The organic cation transporter 3 (OCT3) is a widely expressed transporter for endogenous and exogenous organic cations. Of particular interest is OCT3 expression and function in the brain, where it plays a role in serotonin clearance and influences mood and behavior. ","5518e7da622b194345000004_012":" c-Jun N-terminal kinase (JNK) MAPKs (mitogen-activated protein kinases)","5519110f622b19434500000c_007":"Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1\/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation\/incompetence, aortic regurgitation and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males, are also characteristic findings.","55032e65e9bde69634000034_005":"Dyke-Davidoff-Masson syndrome (DDMS) is a rare epilepsy syndrome that is characterized by cerebral hemiatrophy, homolateral skull hyperplasia, hyperpneumatization of the paranasal sinuses, seizures with or without mental retardation, and contralateral hemiparesis. ","5891b125621ea6ff7e00000e_006":"Taliglucerase alfa, the first available plant cell-expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease (GD).","5a6d196db750ff4455000032_001":"Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate.","54cb9c94f693c3b16b000005_013":"Phospholamban (PLB) inhibits the activity of SERCA2a, the Ca(2+)-ATPase in cardiac sarcoplasmic reticulum, by decreasing the apparent affinity of the enzyme for Ca(2+).","5a68f005b750ff4455000016_013":"OBJECTIVE: Dialectical behavior therapy (DBT) is an empirically supported treatment for outpatients with borderline personality disorder.","532f55fed6d3ac6a34000036_012":"aucher disease is a heterogeneous disease characterized by impaired activity of the lysosomal enzyme glucocerebrosidase","55180ef46487737b43000006_012":"BACKGROUND: Dermatitis herpetiformis (DH) is a specific dermatological manifestation of coeliac disease and 80% of DH patients have gluten sensitive enteropathy manifested by crypt hyperplasia and villous atrophy. ","54cb9c94f693c3b16b000005_017":"SERCA2a activity is regulated by phosphorylation of another SR protein: Phospholamban (PLN). Dephosphorylated PLN inhibits SERCA2a. Phosphorylation of PLN by either cAMP or cGMP-dependent protein kinase at Ser16 or the Ca2+-calmodulin-dependent protein kinase (CaMKII), at Thr17, relieves this inhibition, increasing SR Ca2+ uptake and SR Ca2+ load.","5880b812c872c95565000006_001":"BACKGROUND: This was the first microbicide trial conducted in Africa to evaluate an antiretroviral-containing vaginal ring as an HIV prevention technology for women.OBJECTIVES: The trial assessed and compared the safety, acceptability and adherence to product use of a 4-weekly administered vaginal ring containing the antiretroviral microbicide, dapivirine, with a matching placebo ring among women from four countries in sub-Saharan Africa.","56d1f790f22319765a000001_008":"Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M.","554356d0ed966d112c000005_001":"The average absolute dinucleotide relative abundance difference, termed delta-distance, has been commonly used to measure differences in dinucleotide composition, or 'genomic signature',","5518e7da622b194345000004_004":"-Jun N-terminal kinase (JNK)","589185cc621ea6ff7e00000b_015":"Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy.","56c1f02cef6e39474100004c_004":"Peptide GV1001 is a peptide vaccine representing a 16-amino acid human telomerase reverse transcriptase sequence, which has been reported to possess potential antineoplastic and anti-inflammatory activity. ","550e828c71445a662f000002_012":"In the present study, we measured the impact of gevokizumab on the IL-1\u03b2 system using Schild analysis and surface plasmon resonance studies, both of which demonstrated that gevokizumab decreases the binding affinity of IL-1\u03b2 for the IL-1 receptor type I (IL-1RI) signaling receptor, but not the IL-1 counter-regulatory decoy receptor (IL-1 receptor type II).","55032efde9bde69634000035_010":"Background.- Telcagepant is a calcitonin gene-related peptide (CGRP) receptor antagonist being investigated for the acute treatment of migraine.","533be71dfd9a95ea0d000009_010":" lacZ knock-in allele of mixed-lineage leukemia 1 (Mll1), a histone methyltransferase expressed in GABAergic and other cortical neurons, resulted in decreased H3K4 methylation","571f5c150fd6f91b68000009_017":"The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.","5353aedb288f4dae47000006_011":"chromosome inactivation (XCI) in female mammals depends on the noncoding RNA X inactivation specific transcript (Xist)","5ace19420340b9f05800000a_003":"In humans, melanocortin 1 receptor variants are associated with red hair and fair skin, and work in progress from our laboratory suggests that certain melanocortin 1 receptor variants may preferentially be associated with hair color rather than skin type. ","531464a6e3eabad021000014_002":"We performed a comprehensive mutation screen of VPS13A and XK, the gene responsible for ChAc and MLS, respectively, in 85 mood disorder subjects and XK in 86 schizophrenia subjects and compared the variants to 100 or more control alleles.","58a32efe60087bc10a000013_051":"Do methicillin resistant staphylococcus (MRSA) carrier patients influence MRSA infection more than MRSA-carrier medical officers and MRSA-carrier family?","58bfd0db02b8c60953000017_001":"Molluscum contagiosum virus (MCV) is a common, human poxvirus that causes small papular skin lesions that persist for long periods without signs of inflammation. ","514a0a57d24251bc05000051_035":"We conclude that flumazenil is an effective and safe drug in the treatment of benzodiazepine overdose.","52bf1d9e03868f1b06000010_011":"Initials studies have demonstrated that targeting RANK\/ RANKL signaling with the fully human monoclonal antibody denosumab prevented skeletal complications in patients with MM and other cancers with bone metastases. ","56bb68f9ac7ad1001900000b_002":"Phthiriasis palpebrarum is an uncommon cause of blepharoconjunctivitis in which Pthirus pubis infest the eyelashes","5147c8a6d24251bc05000027_014":"The inherited deficiency of galactosylceramide beta-galactosidase (E.C. 3.2.1.46: galactocerebrosidase) activity results in globoid cell leukodystrophy in humans (Krabbe disease) and in mice (twitcher mutant).","5a7617b183b0d9ea66000022_007":"PURPOSE To evaluate the efficacy, safety, biomarkers, and pharmacokinetics of rilotumumab, a fully human, monoclonal antibody against hepatocyte growth factor (HGF)\/scatter factor, combined with mitoxantrone and prednisone (MP) in patients with castration-resistant prostate cancer (CRPC).","58bfd8e902b8c60953000018_012":"Necrobiosis lipoidica diabeticorum is an unusual dermatologic condition with a characteristic clinical appearance and a clear association with diabetes mellitus. ","589a247078275d0c4a000035_007":"Severe adverse effects of dinutuximab include pain, hypersensitivity reactions, capillary leak syndrome, and hypotension.<br><b>CONCLUSIONS<\/b>: Dinutuximab is the first anti-GD2 monoclonal antibody approved in combination with GM-CSF, IL-2, and RA for maintenance treatment of pediatric patients with high-risk neuroblastoma who achieve at least a partial response to first-line multiagent, multimodality therapy.","5343fc1aaeec6fbd07000003_009":"Neurofibromatosis type 1 (NF1) is a common disorder of dysregulated tissue growth secondary to mutations in the tumor suppressor gene NF1","533be71dfd9a95ea0d000009_004":"MLL1 and MLL2 H3K4 methyltransferase complexes are tethered by p52 on the MMP9 but not on the IkappaBalpha promoter, and the H3K4 trimethyltransferase activity r","58b56fe422d3005309000007_001":"The development of the nervous system involves cells remaining within the neural tube (CNS) and a group of cells that delaminate from the dorsal neural tube and migrate extensively throughout the developing embryo called neural crest cells (NCC). These cells are a mesenchymal highly migratory group of cells that give rise to a wide variety of cell derivatives: melanocytes, sensory neurons, bone, Schwann cells, etc. ","589185cc621ea6ff7e00000b_026":"This study provides Class IV evidence that in children with SMA, intrathecal nusinersen is not associated with safety or tolerability concerns..","5710e131a5ed216440000001_010":"To explore the biological significance of this specific chromosomal context, chromosome XII was split at both sides of the rDNA cluster and strains harboring deleted variants of chromosome XII consisting of 450 kb, 1500 kb (rDNA cluster only) and 610 kb were created.","5880aef4c872c95565000001_028":"This article focuses on the basic and clinical aspects of several emerging and promising novel MoAbs for MM, such as elotuzumab which targets CS1 and daratumumab which targets CD38. Both antigens are highly expressed in more than 90% of MM patients, and the clinical trials have shown promising anti-MM effects, especially in combination with immunomodulatory agent lenalidomide.","5a67ab79b750ff445500000b_009":"BACKGROUND An intervention trial found a trend for shorter length of stay (LOS) in patients with community-acquired pneumonia (CAP) when the CURB65 score was combined with the prognostic biomarker proadrenomedullin (ProADM) (CURB65-A).","5118dd1305c10fae75000001_003":"RA in LAC women is not only more common but presents with some clinical characteristics that differ from RA presentation in men. Some of those characteristics could explain the high rates of disability and worse prognosis observed in women with RA in LAC","54edf81f94afd61504000014_007":"We identified an interaction between the FA protein, FANCA and brm-related gene 1 (BRG1) product","58e9e7aa3e8b6dc87c00000d_003":"The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster.","58bfd8e902b8c60953000018_017":"Diabetes mellitus is associated with a range of dermatologic presentations, including granuloma annulare and necrobiosis lipoidica diabeticorum.","5a3e8683966455904c000007_001":"We used synesthetic versions of the Stroop test with colored letters and numbers presented either in the right or the left visual field of thirty-four synesthetes.","5518e7da622b194345000004_017":"A candidate for this extended family of MAP kinases is the c-Jun NH2-terminal kinase (Jnk), which binds to and phosphorylates the transcription factor c-Jun at the activating sites Ser-63 and Ser-73.","589a247078275d0c4a000035_015":"United Therapeutics Corporation and the National Cancer Institute are developing dinutuximab (Unituxin\u2122; ch14.18), a monoclonal antibody targeting GD2, for the treatment of neuroblastoma.","56c1f003ef6e394741000039_001":"Suvorexant: a dual orexin receptor antagonist for the treatment of sleep onset and sleep maintenance insomnia.","551c23bc6b348bb82c00000b_001":"FIPA, an autosomal-dominant disease with variable penetrance, is explained in 20% of patients by germline mutations in the tumor suppressor aryl hydrocarbon receptor interacting protein(AIP), while no gene abnormality has been identified to date in the majority of the FIPA families.","52fa6ac72059c6d71c000055_018":" Bach1 as a heme-regulated and hypoxia-inducible repressor for transcription of the HO-1 gene","58d8e6818acda3452900000a_051":"Mutations in the gene coding for fibrillin-1, FBN1, are known to cause Marfan syndrome, and have been identified in almost all exons of FBN1.","55192892622b194345000012_008":"Ubiquitination, endocytosis, and lysosomal degradation of the IFNAR1 (interferon alpha receptor 1) subunit of the type I interferon (IFN) receptor is mediated by the SCFbeta-Trcp (Skp1-Cullin1-F-box protein beta transducin repeat-containing protein) E3 ubiquitin ligase in a phosphorylation-dependent manner","58d8e6818acda3452900000a_035":"Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene.","54f9cb34dd3fc62544000002_001":"To identify additional proteins that may interact with PLN, we used the yeast-two-hybrid system to screen an adult human cardiac cDNA library. HS-1 associated protein X-1 (HAX-1) was identified as a PLN-binding partner.","54e0c3e71388e8454a000013_015":"In terms of human CYP17A1 and human adrenal tumor cells, orteronel inhibited 17,20-lyase activity 5.4 times more potently than 17-hydroxylase activity in cell-free enzyme assays and DHEA production 27 times more potently than cortisol production in human adrenal tumor cells, suggesting greater specificity of inhibition between 17,20-lyase and 17-hydroxylase activities in humans vs monkeys","58861d413b87a8a738000002_001":"Using the normalized population mean of 50 on the SF-36 MH domain score as a cut-off, positive predictive values were 16 and 55% for substantial depression; 20 and 68% for substantial anxiety (Depression Anxiety Stress Scales and HADS, respectively); and 40, 44, and 67% for substantial PTSD symptoms (IES-R, IES, and Davidson Trauma Scale, respectively).","5324a8ac9b2d7acc7e000018_003":"Patients received imatinib after diagnosis and underwent regular laboratory monitoring (quantification of BCR-ABL ratio","53357ca0d6d3ac6a3400004b_010":"The search terms used were Bruton's tyrosine kinase (Btk) inhibitors, PCI-32765, GDC-0834, LFM-A13, AVL-101, AVL-292, spleen tyrosine kinase (Syk) inhibitors, R343, R406, R112, R788, fostamatinib, BAY-61-3606, C-61, piceatannol, Lyn, imatinib, nilotinib, bafetinib, dasatinib, GDC-0834, PP2, SU6656 in conjunction with lymphoid malignancy, NHL, CLL, autoimmune disease, allergic disease, asthma, and rheumatoid arthritis.","56cdf5195795f9a73e000045_002":"we examined whether another Hsp90 inhibitor radicicol (RA) affected P-bodies and stress granules. Treatment with RA reduced the level of the Hsp90 client protein Argonaute 2 and the number of P-bodies. Although stress granules still assembled in RA-treated cells upon heat shock, they were smaller and more dispersed in the cytoplasm than those in untreated cells","54cf45e7f693c3b16b00000a_006":"Calsequestrin (CASQ) is the major component of the sarcoplasmic reticulum (SR) lumen in skeletal and cardiac muscles. This calcium-binding protein localizes to the junctional SR (jSR) cisternae, where it is responsible for the storage of large amounts of Ca(2+)","58e74bff3e8b6dc87c000004_001":"Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes.","588f9f83ed9bbee70d000004_001":"BACKGROUND: Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.","58d8e6818acda3452900000a_023":"BACKGROUND: Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications.","54f9b74306d9727f76000004_007":"We report that a new drug, the 1,4-benzothiazepine derivative JTV519, reverses this pathogenic process. JTV519 is known to have a protective effect against Ca2+ overload-induced myocardial injury.","56a24dfffe92d6fd19000002_003":"We previously conducted a proof of principle; dose escalation study in Duchenne muscular dystrophy (DMD) patients using the morpholino splice-switching oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein expression after intramuscular (i.m.) injection. We now show that this dystrophin expression was accompanied by an elevated expression of \u03b1-sarcoglycan, \u03b2-dystroglycan (BDG) and--in relevant cases--neuronal nitric oxide synthase (nNOS) at the sarcolemma, each of which is a component of a different subcomplex of the dystrophin-associated glycoprotein complex (DAPC). ","5a7877c0faa1ab7d2e00000c_008":"Corticosteroids are still the first-line treatment, but alternative therapy with anti-TNF agents, like pentoxifylline, thalidomide and anti-TNF monoclonal antibodies become more interesting, especially in refractory sarcoidosis..","52bf19c503868f1b06000001_006":"Consensual diagnostic criteria for facioscapulohumeral dystrophy (FSHD) include onset of the disease in facial or shoulder girdle muscles, facial weakness in more than 50% of affected family members, autosomal dominant inheritance in familial cases, and evidence of myopathic disease in at least one affected member without biopsy features specific to alternative diagnoses","530cf4c54a5037880c000008_003":"Inhibition of BTK kinase activity through either targeted genetic inactivation or ibrutinib in the TCL1 mouse significantly delays the development of CLL, demonstrating that BTK is a critical kinase for CLL development and expansion and thus an important target of ibrutinib. ","5710a592cf1c32585100002a_012":"Transcription initiated from P1 and P2 was activated by both atxA and acpA, and activation appeared to be stimulated by bicarbonate. Deletion analysis of the upstream region of the cap promoter revealed that activation by both atxA and acpA required a DNA segment of 70 bp extending upstream of the P1 site.","533ea8fcc45e133714000010_012":"In eukaryotes, incorporation of Sec requires a Sec insertion sequence (SECIS) element, a stem-loop structure located in the 3'-untranslated regions of selenoprotein mRNAs","530f900ee3eabad021000003_008":"One of these, monocarboxylate transporter 8 (MCT8) is mutated in Allan-Herndon-Dudley syndrome, a severe mental retardation associated with abnormal thyroid hormone constellations. ","5884c72fe56acf517600000f_004":"Here, we describe the efficacy of NIR-PIT, using fully human IgG1 anti-PD-L1 monoclonal antibody (mAb), avelumab, conjugated to the photo-absorber, IR700DX, in a PD-L1 expressing H441 cell line, papillary adenocarcinoma of lung.","552fac4fbc4f83e828000006_006":"The Ewing family of tumors harbors chromosomal translocations that join the N-terminal region of the EWS gene with the C-terminal region of several transcription factors of the ETS family, mainly FLI1, resulting in chimeric transcription factors that play a pivotal role in the pathogenesis of Ewing tumors. To identify downstream targets of the EWS\/FLI1 fusion protein, we established 293 cells expressing constitutively either the chimeric EWS\/FLI1 or wild type FLI1 proteins and used cDNA arrays to identify genes differentially regulated by EWS\/FLI1","58861d413b87a8a738000002_010":"Remission in post-traumatic stress disorder (PTSD): effects of sertraline as assessed by the Davidson Trauma Scale, Clinical Global Impressions and the Clinician-Administered PTSD scale.","5139b31dbee46bd34c000004_001":"Experimental autoimmune encephalomyelitis (EAE) is an animal model for studying multiple sclerosis (MS)","58a32efe60087bc10a000013_037":"Prospective comparison of the clinical impacts of heterogeneous vancomycin-intermediate methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-susceptible MRSA.","58ee0dd5eda5a57672000013_004":"Since the discovery of leptin secreted from adipocytes, specialized tissues and cells have been found that secrete the several peptides (or cytokines) that are characterized to negatively and positively regulate the metabolic process.","536e46f27d100faa09000012_011":"We have identified three mutations in the beta-hexoseaminidase A (HEXA) gene in a juvenile Tay-Sachs disease (TSD) patient, which exhibited a reduced level of HEXA mRNA.","52fe58f82059c6d71c00007a_001":"Bacteria and some archaea replicate from single origins, whereas most archaea and all eukaryotes replicate using multiple origins.","58cdb41302b8c60953000042_006":"The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility.","5717dbfe7de986d80d000001_002":"dynamin-related protein 1 (Drp1)-mediated mitochondrial fission","530cf4c54a5037880c000008_010":"Recent clinical data suggest remarkable activity of ibrutinib, the first-in-class covalent inhibitor of Bruton's tyrosine kinase (BTK), in chronic lymphocytic leukemia (CLL), as well as excellent activity in other B cell malignancies, including in particular mantle cell lymphoma and Waldenstrom macroglobulinemia. ","56ffdc1ccf1c32585100000b_008":"RNA editing by adenosine deamination (A-to-I) is widespread in humans and can lead to a variety of biological effects depending on the RNA type or the RNA region involved in the editing modification.","5880b073c872c95565000003_018":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.","54f9b74306d9727f76000004_005":"K201 (JTV519) is a 1,4-benzothiazepine derivative that exhibits a strong cardioprotective action and acts as a multiple-channel blocker, including as a K+ channel blocker.","5343fc1aaeec6fbd07000003_027":"type 1 (NF1) is an autosomal dominant genetic disorder affecting one in 3,500 individuals. The mutation rate in the NF1 gene is one of the highest known for human genes.","51585b28d24251bc0500008d_003":"Direct comparison to met1 plants, deficient in maintenance methyltransferase MET1, showed higher sensitivity of ddm1 plants to NaCl.","58861d413b87a8a738000002_018":"Although rates of trauma and PTSD are higher in those with bipolar disorder than in the general population, little is known about differences across bipolar subtypes.Using the NIMH STEP-BD dataset (N=3158), this study evaluated whether there were baseline differences in the prevalence of PTSD between participants with bipolar disorder I (BDI) and bipolar disorder II (BDII), using the MINI and the Davidson Trauma Scale.","58cbb98c02b8c60953000034_037":"TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family","55475dc2f35db75526000001_008":"The botulinum neurotoxins (BoNTs) produced by different strains of the bacterium Clostridium botulinum are responsible for the disease botulism and include a group of immunologically distinct serotypes (A, B, E, and F) that are considered to be the most lethal natural proteins known for humans.","5545186cbf90a13052000002_012":"Transcription-coupled repair (TCR) acts solely on the transcribed strand of expressed genes, while global genomic repair (GGR) is responsible for the ubiquitous repair of the genome.","5149f494d24251bc0500004c_011":"Subjects received either naloxone 0.4 mg i.v. (n = 74) or naloxone 0.8 mg s.q. (n = 122), for respiratory depression of <10 breaths\/min. ","56c04412ef6e39474100001b_021":"Daratumumab is a novel human CD38 monoclonal antibody which kills CD38+ multiple myeloma cells via antibody-dependent cell-mediated cytotoxicity, complement-dependent cytotoxicity and apoptosis. DESIGN AND METHODS: To explore the effect of lenalidomide combined with daratumumab, we first carried out standard antibody-dependent cell-mediated cytotoxicity and complement-dependent cytotoxicity assays in which the CD38+ multiple myeloma cell line UM-9 and primary multiple myeloma cells isolated from patients were used as target cells. ","572096c90fd6f91b6800000e_006":"A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.","5891f9e549702f2e01000002_017":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is a sensory-motor neurological disorder with a circadian component. ","588f8e9794c1512c50000005_004":"Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments.","54df695b1388e8454a000004_018":"Lubag disease is a genetic X-linked dystonia-parkinsonism syndrome afflicting Filipino men","58a32efe60087bc10a000013_055":"methicillin-resistant Staphylococcus aureus (MRSA) infections","54f9c40ddd3fc62544000001_012":"The calcium\/calmodulin-dependent phosphatase calcineurin, which signals to nuclear factor of activated T cells (NFAT) transcription factors, serves as a transducer of calcium signals and is sufficient and necessary for pathologic cardiac hypertrophy and remodeling.","5149f494d24251bc0500004c_009":"To determine whether naloxone administered i.v. to out-of-hospital patients with suspected opioid overdose would have a more rapid therapeutic onset than naloxone given subcutaneously (s.q.).","5880b812c872c95565000006_003":"Efficacy trials with a dapivirine-containing vaginal ring for HIV prevention are ongoing and plans to develop multi-purpose vaginal rings for prevention of both HIV and pregnancy have been elaborated.","5890e163621ea6ff7e000004_001":"Nerve growth factor inhibition with tanezumab influences weight-bearing and subsequent cartilage damage in the rat medial meniscal tear model.","54f9b74306d9727f76000004_010":"The 1,4-benzothiazepine derivative JTV-519 is a new type of calcium ion channel modulator.","532ff917d6d3ac6a34000038_001":"H2BK123ub1 is also a feature of introns in the yeast genome, and the disruption of this modification alters the intragenic distribution of H3 trimethylation on lysine 36 (H3K36me3), which functionally correlates with alternative RNA splicing in humans","530cf4e0c8a0b4a00c000006_005":"Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death in young people, including trained athletes. ","56ffdc1ccf1c32585100000b_001":"One of the most common forms of pre-mRNA editing is A-to-I editing, in which adenosine is deaminated to inosine, which is read as guanosine during translation.","56bc7d71ac7ad10019000018_006":"BACKGROUND: Delamanid (OPC-67683), a nitro-dihydro-imidazooxazole derivative, is a new antituberculosis medication that inhibits mycolic acid synthesis and has shown potent in vitro and in vivo activity against drug-resistant strains of Mycobacterium tuberculosis.METHODS: In this randomized, placebo-controlled, multinational clinical trial, we assigned 481 patients (nearly all of whom were negative for the human immunodeficiency virus) with pulmonary multidrug-resistant tuberculosis to receive delamanid, at a dose of 100 mg twice daily (161 patients) or 200 mg twice daily (160 patients), or placebo (160 patients) for 2 months in combination with a background drug regimen developed according to World Health Organization guidelines. ","58a644e560087bc10a000027_002":"These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601","5a895f51fcd1d6a10c000004_007":"ccctc binding factor ctcf is an architectural protein involved in the three dimensional 3d organization of chromatin in this study we assayed the 3d genomic contact profiles of a large number of ctcf binding sites with high resolution 4c seq as recently reported our data also suggest that chromatin loops preferentially form between ctcf binding sites oriented in a convergent manner to directly test this we used crispr cas9 genome editing to delete core ctcf binding sites in three loci including the ctcf site in the sox2 super enhancer in all instances ctcf and cohesin recruitment were lost and chromatin loops with distal convergent ctcf sites were disrupted or destabilized re insertion of oppositely oriented ctcf recognition sequences restored ctcf and cohesin recruitment but did not re establish chromatin loops we conclude that ctcf binding polarity plays a functional role in the formation of higher order chromatin structure.","58d8e6818acda3452900000a_047":"FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24.1 was newly identified as the Marfan syndrome type II gene.","58cdb41302b8c60953000042_025":"classic form of Ehlers-Danlos syndrome (cEDS) is an inherited connective tissue disorder, where mutations in type V collagen-encoding genes result in abnormal collagen fibrils. Thus the cEDS patients have pathological connective tissue morphology and low stiffness, but the rate of connective tissue protein turnover is unknown","58a32efe60087bc10a000013_019":"Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.","589a247078275d0c4a000035_006":"Dinutuximab for the treatment of pediatric patients with high-risk neuroblastoma.","58a2e5f760087bc10a000007_009":"The segregation of alpha-synuclein to Lewy body peripheral domain is consistent with the hypothesis that alpha-synuclein is continually deposited onto Lewy bodies.","514a0a57d24251bc05000051_047":"The efficacy and safety of flumazenil were assessed in comparison to placebo in a double-blind randomised study of 31 adults intoxicated with benzodiazepines. The criteria of efficacy were the degree of sedation, and orientation in time and space. Patients who received flumazenil awoke within minutes but central depression returned partly one hour later, which reflects the short elimination half-life of the drug.","54f9b74306d9727f76000004_009":"JTV-519, which has potential use as an antiarrhythmic [285800]. The drug is a novel cardioprotectant derivative of 1,4-benzothiazepine for which phase I trials were completed in the third quarter of 1998","58cbb98c02b8c60953000034_043":"To explore the patients genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1).The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents","5324a8ac9b2d7acc7e000018_032":"hronic myeloid leukemia cells contain a BCR-ABL oncoprotein","54d649843706e89528000009_009":"We used two PARP inhibitors in clinical development, olaparib and rucaparib","5a67ab79b750ff445500000b_006":"The CURB65 pneumonia severity score outperforms generic sepsis and early warning scores in predicting mortality in community-acquired pneumonia.","51631154298dcd4e5100004e_014":"Bortezomib (BZM) is a proteasome inhibitor in clinical use for multiple myeloma. Here, we investigated whether the combination of these compounds would yield increased antitumor efficacy in multiple myeloma and glioblastoma cell lines in vitro and in vivo.","56ed03862ac5ed1459000004_007":"Inactivation of the Cullin (CUL)-RING E3 ligase by the NEDD8-activating enzyme inhibitor MLN4924 triggers protective autophagy in cancer cells.","54f9b74306d9727f76000004_017":"A new 1,4-benzothiazepine derivative, JTV519 (JTV), has strong protective effects against isoproterenol-induced myocardial injury.","56c3184050c68dd416000003_004":"The antihypertensive effect of isradipine was studied in 45 patients with mild-to-moderate hypertension (mean age 59 years) using casual and ambulatory 24-h blood pressure measurement.","530cf4e0c8a0b4a00c000006_008":"Hypertrophic cardiomyopathy (HCM) is one of the most common inherited primary cardiac disorders and the most common cause of sudden cardiac death in young athletes.","56c1f003ef6e394741000039_003":"Crystal structure of the human OX2 orexin receptor bound to the insomnia drug suvorexant.","5545186cbf90a13052000002_013":"In addition to the recognition and excision of DNA damage throughout the genome (GGR), there exists a mechanism, transcription-coupled nucleotide excision repair (TCR), for recognizing some types of DNA damage in the transcribed strand of genes in Escherichia coli, yeast and mammalian cells.","55242d512c8b63434a000006_013":"METHODS: Fifteen women ill with AN (ILL AN) were compared with 29 healthy control women (CW); PET and [11C]WAY100635 were used to assess binding potential (BP) of the 5-HT1A receptor, and [18F]altanserin was used to assess postsynaptic 5-HT2A receptor BP.","54d8ea2c4b1fd0d33c000002_004":"Atrial fibrillation (AF) is associated with increased morbidity and is in addition the most prevalent cardiac arrhythmia.","58adc1ff9ef3c34033000006_014":"Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB.","54f9c40ddd3fc62544000001_009":"The nuclear factor of activated T cells (NFAT) group of transcription factors is retained in the cytoplasm of quiescent cells. NFAT activation is mediated in part by induced nuclear import. This process requires calcium-dependent dephosphorylation of NFAT caused by the phosphatase calcineurin.","5540b9800083d1bf0e000002_010":"Human erythrocyte spectrin is an antiparallel heterodimer comprised of a 280 kDa alpha subunit and a 246 kDa beta subunit which further associates into tetramers in the red cell membrane cytoskeleton","5a7877c0faa1ab7d2e00000c_002":" The prevalence of cardiac sarcoidosis has exponentially increased over the past decade, primarily due to increased awareness and diagnostic modalities for the disease entity. Despite an expanding patient cohort, the optimal management of cardiac sarcoidosis remains yet to be established with a significant lack of prospective trials to support current practice. Corticosteroids remain first-line treatment of this disorder,","5a6a3464b750ff4455000026_008":"RESULTS We present MARS, a new heuristic method for improving Multiple circular sequence Alignment using Refined Sequences.","589a247078275d0c4a000035_003":"Dinutuximab (ch14.18; Unituxin\u2122) is a chimeric human-mouse monoclonal antibody that binds to the glycolipid antigen disialoganglioside, which is highly expressed on the surface of neuroblastoma cells. This intravenous drug is approved in the EU and USA as combination therapy with granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin (IL)-2 and isotretinoin for the postconsolidation treatment of patients with high-risk neuroblastoma. ","572096c90fd6f91b6800000e_008":"Different missense, nonsense and frameshift mutations in the GAN gene encoding gigaxonin have been described to cause giant axonal neuropathy, a severe early-onset progressive neurological disease with autosomal recessive inheritance.","533ea8fcc45e133714000010_008":"this requires a dedicated machinery comprising a stem-loop structure in the 3' UTR RNA (the SECIS element)","53357193d6d3ac6a34000047_019":"A total of 140 patients were randomised to tofacitinib 1, 3, 5, 10 mg or placebo twice daily and the American College of Rheumatology 20% improvement criteria (ACR20) response rate at week 12, a primary end point, was significant for all tofacitinib treatment groups. Thus, an orally available tofacitinib in combination with MTX was efficacious and had a manageable safety profile. Tofacitinib at 5 and 10 mg twice a day appears suitable for further evaluation to optimise the treatment of RA.","5a68f448b750ff4455000018_003":"Corynebacterium minutissimum is the bacteria that leads to cutaneous eruptions of erythrasma and is the most common cause of interdigital foot infections.","5a74e9ad0384be955100000a_011":"A selective estrogen receptor modulator (SERM) ","55180ef46487737b43000006_005":"We report the unusual case of an 8-month-old child presenting to his general practitioner with pruritic skin lesions, subsequently proven to be dermatitis herpetiformis (DH) as the first sign of gluten-sensitive disease.","532dcfc9d6d3ac6a34000021_013":"The fly complex contains a catalytic SET domain subuni","5a690487b750ff445500001f_003":"A 75-year-old woman presented with altered mental status, septic picture, and influenza-like symptoms. Initial investigations revealed atypical lymphocytosis, thrombocytopenia, elevated liver enzymes, and a positive monospot test result. Further investigation showed the Epstein-Barr virus viral capsid antibody IgM\/IgG and Epstein-Barr virus DNA by polymerase chain reaction to be negative; however, interestingly her cytomegalovirus (CMV) IgM and IgG were positive, suggesting that her mononucleosis-like syndrome was due to acute CMV infection.","587e0116ae05ffb474000002_002":"We present CisMapper, which predicts the regulatory targets of a TF using the correlation between a histone mark at the TF's bound sites and the expression of each gene across a panel of tissues.","58e75d483e8b6dc87c000005_002":"Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation.","5353aedb288f4dae47000006_035":"human XIST gene, a candidate for a role in X chromosome inactivation,","54e0d1491388e8454a000014_004":"Antibody therapeutics in Phase 3 studies are described, with an emphasis on those with study completion dates in 2014, including antibodies targeting interleukin-17a or the interleukin-17a receptor (secukinumab, ixekizumab, brodalumab), proprotein convertase subtilisin\/kexin type 9 (alirocumab, evolocumab, bococizumab), and programmed death 1 receptor (lambrolizumab, nivolumab).","58edf567eda5a57672000011_002":" DosR\/DevR of M. tuberculosis is a two component dormancy survival response regulator which induces the expression of 48 genes. ","58a57f9460087bc10a00001f_001":"Tietz\/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.","58cbb98c02b8c60953000034_050":"Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. ","5895f7e978275d0c4a000001_011":"An acute illness (Jamaican vomiting sickness) which affected two adults after eating unripe ackee fruit was investigated. ","53617eeb7d100faa0900000a_001":"Elite Rhythmic Gymnasts (RGs) constitute a unique metabolic model and they are prone to developing Anorexia Athletica.","58a32efe60087bc10a000013_023":"Comparison of the Xpert methicillin-resistant Staphylococcus aureus (MRSA) assay, BD GeneOhm MRSA assay, and culture for detection of nasal and cutaneous groin colonization by MRSA.","532dcfc9d6d3ac6a34000021_005":"The biological function of MLL1 is mediated by the histone H3K4 methyltransferase activity of the carboxyl-terminal SET domain.","550ea8f1b305b40c5c000005_006":"Pridopidine (ACR16) belongs to a novel class of central nervous system compounds in development for the treatment of Huntington disease. The objective of the study was to investigate the metabolic changes in patients with Huntington disease before and after pridopidine treatment. METHODS: [(18)F]Fluorodeoxyglucose positron emission tomographic imaging was used to measure the regional cerebral metabolic rate of glucose at baseline and after 14 days of open-label pridopidine treatment in 8 patients with Huntington disease. ","58a57f9460087bc10a00001f_037":"In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and hypopigmentation.","56c04412ef6e39474100001b_002":"Daratumumab is a novel, high-affinity, therapeutic human monoclonal antibody against unique CD38 epitope with broad-spectrum killing activity.","530cefaaad0bf1360c000012_018":"Restless leg syndrome (RLS) and periodic limb movement disorder (PLMD) are considered to be a continuum of a neurological sleep disorder associated with abnormal iron metabolism or deficiency. I describe a case of RLS and PLMD in a cystic fibrosis patient with iron deficiency from chronic hemoptysis. This is the first case that reports RLS and PLMD manifesting from iron deficiency caused by chronic hemoptysis in advanced cystic fibrosis lung disease.","5343fc1aaeec6fbd07000003_003":"type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene","5a774fdcfaa1ab7d2e000008_008":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5324a8ac9b2d7acc7e000018_048":"CML) was the first human malignancy to be associated with a single genetic abnormality, characterized by a reciprocal translocation involving chromosomes 9 and 22 (the Philadelphia chromosome). The fusion gene that results (BCR-ABL) produces a constitutively activated tyrosine kinase that exists in different isoforms depending on BCR break-points. Imatinib mesylate is a highly selective inhibitor of this kinase,","5324a8ac9b2d7acc7e000018_028":"matinib was developed as the first molecularly targeted therapy to specifically inhibit the BCR-ABL kinase in Philadelphia chromosome (Ph)-positive chronic myeloid leukemia (CML)","5a67b2f7b750ff445500000f_008":"Simple clinical tests for support of the urethrovesical junction, such as the Q tip test, are non-specific in patients with stress urinary incontinence.","5a6e2b1bb750ff445500003e_001":"Psychiatric disorders have a great impact on morbidity and mortality. Genotype-phenotype resources for psychiatric diseases are key to enable the translation of research findings to a better care of patients. PsyGeNET is a knowledge resource on psychiatric diseases and their genes, developed by text mining and curated by domain experts.Results: We present psygenet2r, an R package that contains a variety of functions for leveraging PsyGeNET database and facilitating its analysis and interpretation. The package offers different types of queries to the database along with variety of analysis and visualization tools, including the study of the anatomical structures in which the genes are expressed and gaining insight of gene's molecular function. Psygenet2r is especially suited for network medicine analysis of psychiatric disorders.","532ff917d6d3ac6a34000038_003":" transcription and splicing are functionally intertwined, and that modified nucleosomes with trimethylation of lysine 36 in histone subunit 3 (H3K36me3) are enriched at internal exons and the downstream flanking intronic regions of highly expressed genes","55054f8af73303d458000002_006":"Comparison of liquid chromatography-isotope ratio mass spectrometry (LC\/IRMS) and gas chromatography-combustion-isotope ratio mass spectrometry (GC\/C\/IRMS) for the determination of collagen amino acid \u03b413C values for palaeodietary and palaeoecological reconstruction.","5ace37d50340b9f058000011_012":"The incidence of cryptococcal meningitis has increased in parallel with that of HIV infection.","571e14fbbb137a4b0c000001_008":"Pharmacokinetics, pharmacodynamics, safety and tolerability of 4\u00a0weeks&apos; treatment with empagliflozin in Japanese patients with type 2 diabetes mellitus","5a7d5ce0faa1ab7d2e00001b_001":"In humans, elevated GDF15 correlates with weight loss, and the administration of GDF15 to mice with obesity reduces body weight, at least in part, by decreasing food intake. The mechanisms through which GDF15 reduces body weight remain poorly understood, because the cognate receptor for GDF15 is unknown. Here we show that recombinant GDF15 induces weight loss in mice fed a high-fat diet and in nonhuman primates with spontaneous obesity.","589185cc621ea6ff7e00000b_011":"BACKGROUND: Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy.METHODS: This open-label, phase 2, escalating dose clinical study assessed the safety and tolerability, pharmacokinetics, and clinical efficacy of multiple intrathecal doses of nusinersen (6 mg and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy. ","56bc77a3ac7ad10019000015_011":"Assessment of severe malaria in a multicenter, phase III, RTS, S\/AS01 malaria candidate vaccine trial: case definition, standardization of data collection and patient care.","5518e7da622b194345000004_019":"A candidate for this extended family of MAP kinases is the c-Jun NH2-terminal kinase (Jnk), which binds to and phosphorylates the transcription factor c-Jun at the activating sites Ser-63 and Ser-73","58e7902b3e8b6dc87c000007_006":"Importance of correlation between gene expression levels: application to the type I interferon signature in rheumatoid arthritis.","53130a77e3eabad02100000f_004":"Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations.","589a247078275d0c4a000035_018":"CONCLUSIONS Dinutuximab is the first anti-GD2 monoclonal antibody approved in combination with GM-CSF, IL-2, and RA for maintenance treatment of pediatric patients with high-risk neuroblastoma who achieve at least a partial response to first-line multiagent, multimodality therapy.","5a7237672dc08e987e000008_016":"Idarucizumab completely reversed the anticoagulant effect of dabigatran within minutes.","56bc77a3ac7ad10019000015_033":"This article provides a summary of the discussions, conclusions and recommendations from that meeting.Meeting sessions included: a review of the efficacy of artemisinin-based combination therapy in Guyana and Suriname; the outcomes from a consultation on non-malaria febrile illness; the outcomes from the second meeting of the Evidence Review Group on malaria burden estimation; an update on the review of the WHO Guidelines for the Treatment of Malaria; an update regarding progress on the constitution of the vector control Technical Expert Group; updates on the RTS, S\/AS01 vaccine and the malaria vaccine technology roadmap; financing and resource allocation for malaria control; malaria surveillance and the need for a surveillance, monitoring and evaluation Technical Expert Group; criteria and classification related to malaria elimination; the next meeting of the Evidence Review Group on Intermittent Preventive Treatment in pregnancy; an update on the soon-to-be launched Elimination Scenario Planning Tool; and an update on the process for the Global Technical Strategy for Malaria Control and Elimination (2016-2025).Policy statements, position statements, and guidelines that arise from the MPAC meeting conclusions and recommendations will be formally issued and disseminated to World Health Organization Member States by the World Health Organization Global Malaria Programme.","56ecfd572ac5ed1459000002_011":"new orally administered second-generation PI oprozomib is being investigated.","55242d512c8b63434a000006_005":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent antagonist of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (9, 10). This led to the development of 3-{2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl}-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (11). ","58adc1ff9ef3c34033000006_007":"Instead, activators physically interacted with the general transcription factor TFIIB when the genes were activated and in a looped configuration. TFIIB cross-linked to both the promoter and the terminator regions during the transcriptionally activated state of a gene. ","5324a8ac9b2d7acc7e000018_017":"CML) is caused by the BCR-ABL oncogene. The Philadelphia chromosome (Ph) from a reciprocal translocation, t(9;22) (q34;q11) causes a fusion gene, BCR-ABL, that encodes a constitutively active tyrosine kinase. Treatment of CML by imatinib","514a0a57d24251bc05000051_023":"Among the benzodiazepine-positive patients, 9 (53%) of 17 patients from the flumazenil group responded to the additional flumazenil, and 58 (81%) of patients previously given placebo responded.","5a742d620384be9551000002_003":"Diagnostic accuracy of the Berlin questionnaire, STOP-BANG, STOP, and Epworth sleepiness scale in detecting obstructive sleep apnea: A bivariate meta-analysis.","5880b073c872c95565000003_037":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban).","5a8980d2fcd1d6a10c00000d_001":"Brown adipose tissue (BAT) mitochondria are distinct from their counterparts in other tissues in that ATP production is not their primary physiologic role. BAT mitochondria are equipped with a specialized protein known as uncoupling protein 1 (UCP1). UCP1 short-circuits the electron transport chain, allowing mitochondrial membrane potential to be transduced to heat, making BAT a tissue capable of altering energy expenditure and fuel metabolism in mammals without increasing physical activity.","5a871a6861bb38fb24000009_002":"Anaplastic lymphoma kinase (ALK) rearrangement lung cancer responds to ALK tyrosine kinase inhibitors.","58861d413b87a8a738000002_014":"Symptoms were assessed at sequential time points by the Structured Interview for PTSD (SIP), a clinician interview based assessment, and a self-report scale, the Davidson Trauma Scale (DTS). ","58861d413b87a8a738000002_005":"The Davidson Trauma Scale (DTS) was developed as a self-rating for use in diagnosing and measuring symptom severity and treatment outcome in post-traumatic stress disorder (PTSD); 630 subjects were identified by random digit dialing and evaluated for a history of trauma.","5a679e8cb750ff4455000006_006":"The Milwaukee protocol has been attributed to survival in rabies encephalitis despite a lack of scientific evidence supporting its therapeutic measures. ","589185cc621ea6ff7e00000b_008":"CONCLUSIONS: Results from this study support continued development of nusinersen for treatment of SMA.CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that in children with SMA, intrathecal nusinersen is not associated with safety or tolerability concerns.","56c1f01def6e394741000045_002":"BACKGROUND: Orteronel is an investigational, partially selective inhibitor of CYP 17,20-lyase in the androgen signalling pathway, a validated therapeutic target for metastatic castration-resistant prostate cancer. We assessed orteronel in chemotherapy-naive patients with metastatic castration-resistant prostate cancer.","5891f9e549702f2e01000002_032":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is characterised by abnormal sensations in the legs as well as dysaesthesia.","52bf19f703868f1b06000002_001":"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases.","514a0a57d24251bc05000051_037":"Flumazenil, a 1,4-imidazobenzodiazepine, is a highly effective, specific benzodiazepine antagonist which is indicated for use when the effect of a benzodiazepine must be attenuated or terminated at short notice.","53357193d6d3ac6a34000047_011":"An orally available JAK3 inhibitor, tofacitinib, has been applied for RA, with satisfactory effects and acceptable safety in multiple clinical examinations. ","5545186cbf90a13052000002_021":"NER can operate via two subpathways: global genome repair (GGR) and a specialized pathway coupled to active transcription (transcription-coupled repair, TCR) and directed to DNA lesions in the transcribed strand of active genes","58bca2f302b8c6095300000c_011":"Turner syndrome is a chromosomal disorder in which all or part of one X chromosome is missing","551fd9c06b348bb82c000012_020":"If the ROSIER scale is to be clinically useful in Chinese suspected stroke patients, it requires further refinement.","5324a8ac9b2d7acc7e000018_033":"Imatinib mesylate, a tyrosine kinase inhibitor with specific activity against the breakpoint cluster region--Abelson murine leukemia (BCR-ABL) tyrosine kinase has been developed for treatment of chronic myelogenous leukemia (CML).","5ac725250340b9f058000006_002":"In addition, according to recent studies, circular RNA-7 (ciRS-7) acts as a sponge of miR-7 and thus inhibits its activity. Numerous evidences have confirmed expression of miR-7 is dysregulated in cancer tissues, however, whether ciRS-7 invovled in oncogenesis by acting as sponge of miR-7 remains unclear. Most recently, a study reported ciRS-7 acted as an oncogene in hepatocellular carcinoma through targeting miR-7 expression. This suggest ciRS-7\/ miR-7 axis affects oncogenesis, and it provides a new perspective on the mechanisms of decreased miR-7 expression in cancer tissues. ","51542e44d24251bc05000081_006":"The tyrosine kinase inhibitors (TKIs) gefitinib and erlotinib are effective in non-small cell lung cancers (NSCLCs) with epidermal growth factor receptor (EGFR) gene mutations.","58cdb41302b8c60953000042_015":"The Ehlers-Danlos syndrome encompasses a group of hereditary disorders of the connective tissue, characterized by hyperextensible skin, joint hypermobility; and varying degrees of vessel and tissue fragility.","554140ad182542114d000003_001":"mpMoRFsDB: a database of molecular recognition features in membrane proteins","5a896c26fcd1d6a10c000007_014":"Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations.","5a67c497b750ff4455000012_002":"Here we present Genomiser, an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian diseases. Genomiser scores variants through either existing methods such as CADD or a bespoke machine learning method and combines these with allele frequency, regulatory sequences, chromosomal topological domains, and phenotypic relevance to\u00a0discover variants associated to specific Mendelian disorders.","5880be1dc872c95565000007_001":"Niraparib: A Poly(ADP-ribose) Polymerase (PARP) Inhibitor for the Treatment of Tumors with Defective Homologous Recombination.","5314bd7ddae131f847000006_005":"Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene.","587e2300fc7e8dd84f000004_001":"MethPed: an R package for the identification of pediatric brain tumor subtypes","52bf217003868f1b0600001b_001":" This result identifies resveratrol as the first molecule which consistently retards aging in organisms as diverse as yeast, worm, fly and fish, but it also reveals the potential of this short-lived fish as an animal model for pharmacological research. Moreover, being related to stickleback (Gasterosteus aculeatus) the \"pufferfishes\" Takifugu and Tetraodon, and even more closely related to medaka (Oryzias latipes), it can greatly beneficiate from the recent development of genomic resources for these fish models and in the future become a complete model system for the aging research community.","58dd0dde8acda34529000027_012":"Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations.","58cbb98c02b8c60953000034_012":"Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). ","589a246078275d0c4a00002a_038":"To report safety and efficacy outcomes from up to 9 years of treatment with teriflunomide in an extension (NCT00803049) of the pivotal phase 3 Teriflunomide Multiple Sclerosis Oral (TEMSO) trial (NCT00134563).","52bf19f703868f1b06000002_003":"Previously, autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT [1]) was mapped to chromosome 1q42-43 with identification of pathogenic mutations in RYR2. ","56c1f040ef6e394741000055_001":"LEARNING POINTS: There are potential clinical applications of identifying subsets of patients with IgG4 thyroiditis (FVHT and Riedel thyroiditis).","52bf19c503868f1b06000001_004":"Facioscapulohumeral muscular dystrophy (FSHD) is a primary muscle disorder with autosomal dominant inheritance.","571e12097de986d80d000017_004":"Safety, tolerability, pharmacokinetics and pharmacodynamics of single doses of empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, in healthy Japanese subjects.","587e1bfdfc7e8dd84f000002_004":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species","5343fc1aaeec6fbd07000003_025":" tumour-suppressor genes, Nf1 and Trp53. Humans with mutations in NF1 develop neurofibromatosis type I (NF1","58d8e6818acda3452900000a_018":"Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.","58eb9542eda5a57672000007_021":"Coilin is known as the marker protein for Cajal bodies (CBs), subnuclear domains important for the biogenesis of small nuclear ribonucleoproteins (snRNPs) which function in pre-mRNA splicing.","58a57f9460087bc10a00001f_022":"The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF.","5a7234352dc08e987e000007_005":"The original \"clearcut\" diagnosis of glioblastoma multiforme, based on CT scans, was unexpectedly disproved by examination of stereotactically obtained brain biopsy specimens, which revealed a neuronal ceroid lipofuscinosis (Kufs' disease). ","58a5a51060087bc10a000021_013":"Reactive oxygen species (ROS) production by NADPH oxidase 1 (NOX1), which is mainly expressed in colon epithelial cells, requires the membrane-bound component p22(PHOX) and the cytosolic partners NOX organizer 1 (NOXO1), NOX activator 1 (NOXA1), and Rac1.","5506c3e38e1671127b00000a_013":"We have recently shown that the Na(+)\/Ca(2+) exchanger (NCX) is involved in nitric oxide (NO)-induced cytotoxicity in cultured astrocytes and neurons. However, there is no in vivo evidence suggesting the role of NCX in neurodegenerative disorders associated with NO. NO is implicated in the pathogenesis of neurodegenerative disorders such as Parkinson's disease. This study examined the effect of SEA0400, the specific NCX inhibitor, on 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced dopaminergic neurotoxicity, a model of Parkinson's disease, in C57BL\/6J mice.","5353aedb288f4dae47000006_012":" One of the striking features that characterize the Xic landscape is the abundance of loci transcribing non-coding RNAs (ncRNAs), including Xist, the master regulator of the inactivation process","51585b28d24251bc0500008d_015":"We and others have shown that DNA methyltransferase 1 (DNMT1), the maintenance methyltransferase, contributes to the cellular response to DNA damage, yet DNMT1's exact role in this process remains unclear.","5324a8ac9b2d7acc7e000018_016":"CML) is caused by the BCR-ABL oncogene. The Philadelphia chromosome (Ph) from a reciprocal translocation, t(9;22) (q34;q11) causes a fusion gene, BCR-ABL, that encodes a constitutively active tyrosine kinase. Treatment of CML by imatinib","52fa6ac72059c6d71c000055_019":"Bach1, a transcriptional repressor of heme oxygenase-1 gene","58cbb98c02b8c60953000034_025":"Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.","5324a8ac9b2d7acc7e000018_001":"CR-ABL-targeted TKI that inhibits BCR-ABL with greater potency compared with imatinib","55376f19bc4f83e82800000c_008":"Mouse models have increased our understanding of the pathogenesis of medulloblastoma (MB), the most common malignant pediatric brain tumor that often forms in the cerebellum","58a32efe60087bc10a000013_036":"Prospective comparison of the clinical impacts of heterogeneous vancomycin-intermediate methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-susceptible MRSA.","587e1bfdfc7e8dd84f000002_008":"GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. ","54df695b1388e8454a000004_013":"We report a patient with Lubag (X-linked dystonia-parkinsonism) who presented with severe respiratory stridor from adductor laryngeal breathing dystonia. ","51585b28d24251bc0500008d_019":"Our data suggest that DNMT1 might be essential for maintenance of DNA methylation, proliferation, and survival of cancer cells.","58cbb98c02b8c60953000034_024":"Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.","530cefaaad0bf1360c000012_013":"RLS may also be secondary to a number of conditions including iron deficiency, pregnancy and end-stage renal failure and, perhaps, neuropathy.","5a72329e2dc08e987e000006_004":"Supine films from 44 cases of pneumoperitoneum were randomly interspersed among supine films from 87 control subjects without free air, and the films were reviewed for the presence or absence of various signs of pneumoperitoneum, including Rigler's sign (gas on both sides of the bowel wall), the falciform ligament sign (gas outlining the falciform ligament), the football sign (gas outlining the peritoneal cavity), the inverted-V sign (gas outlining the medial umbilical folds), and the right-upper-quadrant gas sign (localized gas in the right upper quadrant).","58861d413b87a8a738000002_023":"The Davidson Trauma Scale was completed at 1 (n = 145), 6 (n = 106), 12 (n = 94), and 24 (n = 66) months postdischarge to assess symptoms of PTSD.","5506c3e38e1671127b00000a_038":"Given the potential clinical benefit of inhibiting Na+\/Ca2+ exchanger (NCX) activity during myocardial ischemia reperfusion (I\/R), pharmacological approaches have been pursued to both inhibit and clarify the importance of this exchanger. SEA0400 was reported to have a potent NCX selectivity. Thus, we examined the effect of SEA0400 on NCX currents and I\/R induced intracellular Ca2+ overload in mouse ventricular myocytes using patch clamp techniques and fluorescence measurements.","5a7877c0faa1ab7d2e00000c_006":"Systemic corticosteroids are the first line treatment in sarcoidosis.","5171438a8ed59a060a000007_003":"RET gene mutation carries a risk of MEN2 and MTC in all ethnic groups in South Africa","58eb9542eda5a57672000007_010":"Here, I would like to discuss what we have learned about coilin and suggest a possible role for coilin in RNA processing and cellular trafficking, especially in relation to Cajal bodies and nucleoli. ","56bc77a3ac7ad10019000015_027":"This article provides a summary of the discussions, conclusions and recommendations from that meeting.Meeting sessions included: a review of the efficacy of artemisinin-based combination therapy in Guyana and Suriname; the outcomes from a consultation on non-malaria febrile illness; the outcomes from the second meeting of the Evidence Review Group on malaria burden estimation; an update on the review of the WHO Guidelines for the Treatment of Malaria; an update regarding progress on the constitution of the vector control Technical Expert Group; updates on the RTS, S\/AS01 vaccine and the malaria vaccine technology roadmap; financing and resource allocation for malaria control; malaria surveillance and the need for a surveillance, monitoring and evaluation Technical Expert Group; criteria and classification related to malaria elimination; the next meeting of the Evidence Review Group on Intermittent Preventive Treatment in pregnancy; an update on the soon-to-be launched Elimination Scenario Planning Tool; and an update on the process for the Global Technical Strategy for Malaria Control and Elimination (2016-2025).Policy statements, position statements, and guidelines that arise from the MPAC meeting conclusions and recommendations will be formally issued and disseminated to World Health Organization Member States by the World Health Organization Global Malaria Programme.","530f900ee3eabad021000003_002":"Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination.","5896271178275d0c4a000004_002":"Lucinactant for the treatment of respiratory distress syndrome in neonates.","5171438a8ed59a060a000007_009":"Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RET exons 10, 11, and 13-16","5a75f6e083b0d9ea66000009_001":"CLIP-Seq protocols such as PAR-CLIP, HITS-CLIP or iCLIP allow a genome-wide analysis of protein-RNA interactions. For the processing of the resulting short read data, various tools are utilized. Some of these tools were specifically developed for CLIP-Seq data, whereas others were designed for the analysis of RNA-Seq data. To this date, however, it has not been assessed which of the available tools are most appropriate for the analysis of CLIP-Seq data. This is because an experimental gold standard dataset on which methods can be accessed and compared, is still not available. To address this lack of a gold-standard dataset, we here present Cseq-Simulator, a simulator for PAR-CLIP, HITS-CLIP and iCLIP-data. This simulator can be applied to generate realistic datasets that can serve as surrogates for experimental gold standard dataset. In this work, we also show how Cseq-Simulator can be used to perform a comparison of steps of typical CLIP-Seq analysis pipelines, such as the read alignment or the peak calling. These comparisons show which tools are useful in different settings and also allow identifying pitfalls in the data analysis.","56bc77a3ac7ad10019000015_021":"The incidence of generalised convulsive seizures within 7 days of RTS,S\/AS01 booster was 2\ufffd2 per 1000 doses in young infants and 2\ufffd5 per 1000 doses in children.INTERPRETATION: RTS,S\/AS01 prevented a substantial number of cases of clinical malaria over a 3-4 year period in young infants and children when administered with or without a booster dose. ","5148691bd24251bc0500002d_011":". We suggest that reduction of HSP70 by expanded polyglutamine is implicated in aggregation and inhibition of M3\/6 and in activation of JNK and AP-1.","56bc77a3ac7ad10019000015_023":"Statistical methodology for the evaluation of vaccine efficacy in a phase III multi-centre trial of the RTS, S\/AS01 malaria vaccine in African children.","5a896c26fcd1d6a10c000007_003":"Twenty-one cases of DBA admitted in our hospital from Dec 2008 to Aug 2012 were screened by PCR for mutations in the nine known genes associated with DBA: RPS19, RPS24, RPS17, RPL5, RPL11, RPS7, RPL35a, RPS10 and RPS26","5abcf010fcf4565872000023_009":"Restricted motion of the median nerve in carpal tunnel syndrome.","58d8e6818acda3452900000a_053":"The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population.","58bca2f302b8c6095300000c_014":"X-monosomy is a form of Turner syndrome (TS) in which an entire X chromosome is missing. ","54e0d1491388e8454a000014_001":"Efficacy and safety profile of evolocumab (AMG145), an injectable inhibitor of the proprotein convertase subtilisin\/kexin type 9: the available clinical evidence.","52bf1f1303868f1b06000014_004":"Peroxiredoxin 2 (PRDX2) has been known to act as an antioxidant enzyme whose main function is H(2)O(2) reduction in cells. ","5717dbfe7de986d80d000001_020":"SUMOylation of the mitochondrial fission protein Drp1 occurs at multiple nonconsensus sites within the B domain and is linked to its activity cycle.","53262cdcd6d3ac6a34000003_002":" invasive measures with epidural blood patch providing the cornerstone of the invasive measures","56f6c11109dd18d46b00000e_002":"These results would support cyclophilin as the major, if not only, intracellular receptor protein for CsA. ","58a5a51060087bc10a000021_008":"NADPH oxidase 1 (Nox1) is a multicomponent enzyme consisting of p22(phox), Nox organizer 1 (NOXO1), Nox1 activator 1, and Rac1","5a68f005b750ff4455000016_004":"Exploring the effectiveness of combined mentalization-based group therapy and dialectical behaviour therapy for inpatients with borderline personality disorder - A pilot study.","530f900ee3eabad021000003_013":"Abnormal transport function is reflected by elevated free T3 and decreased free T4 levels along with clinical features characterized by neurological abnormalities including global developmental delay, central hypotonia, rotatory nystagmus, impaired hearing, spasticity and contractures of joints. We report a child with classical clinical features along with confirmatory deranged thyroid levels in blood.","56c1d857ef6e394741000033_004":"Pharmacokinetics, pharmacodynamics and tolerability of opicapone, a novel catechol-O-methyltransferase inhibitor, in healthy subjects: prediction of slow enzyme-inhibitor complex dissociation of a short-living and very long-acting inhibitor.","5353aedb288f4dae47000006_007":"X-inactivation specific transcript (Xist) RNA","554148c23f2354b713000001_007":"LepChorionDB may provide insights in future functional and evolutionary studies of Lepidopteran chorion proteins and thus, it will be a useful tool for the Lepidopteran scientific community and Lepidopteran genome annotators, since it also provides access to the two pHMMs developed in this work, which may be used to discriminate A and B class chorion proteins.","554148c23f2354b713000001_002":"A database, named LepChorionDB, was constructed by searching 5 different protein databases using class A and B central domain-specific profile Hidden Markov Models (pHMMs), developed in this work. A total of 413 Lepidopteran chorion proteins from 9 moths and 1 butterfly species were retrieved. These data were enriched and organised in order to populate LepChorionDB, the first relational database, available on the web, containing Lepidopteran chorion proteins grouped in A and B classes. LepChorionDB may provide insights in future functional and evolutionary studies of Lepidopteran chorion proteins and thus, it will be a useful tool for the Lepidopteran scientific community and Lepidopteran genome annotators, since it also provides access to the two pHMMs developed in this work, which may be used to discriminate A and B class chorion proteins","56ed0ffe2ac5ed1459000008_006":"(18)F-FDG-PET\/CT imaging in an IL-6- and MYC-driven mouse model of human multiple myeloma affords objective evaluation of plasma cell tumor progression and therapeutic response to the proteasome inhibitor ixazomib.","589630f378275d0c4a000007_007":"Pharmacokinetics of ixazomib, an oral proteasome inhibitor, in solid tumour patients with moderate or severe hepatic impairment.","5a7237672dc08e987e000008_034":"This was until the recent The Food and Drug Administration approval of idarucizumab, a potential reversal agent for dabigatran.","54f35ad864850a5854000004_003":"ACS chemical neuroscience molecule spotlight on semagacestat (LY450139).","550f0e4c6a8cde6b72000003_037":"Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed in FSHD but not control myoblasts. DUX4 and its target genes contribute to the global dysregulation of gene expression observed in FSHD. ","530cefaaad0bf1360c00000d_013":"Thyroid involvement in Williams syndrome (WS) was recently reported in two small groups of patients, both showing an increased prevalence of elevation of TSH serum concentration; in one of the two reports, 70% of the patients demonstrated a hypoplasia of thyroid gland as well. ","5abcf0b0fcf4565872000024_002":"In general, Leishmania species causing cutaneous leishmaniasis (CL) are more sensitive to Sb(III) than the species responsible for visceral leishmaniasis (VL).","550e828c71445a662f000002_010":"XOMA is developing gevokizumab (XOMA-052), an IgG2 humanized mAb against human IL-1\u03b2, for the potential treatment of these diseases. Gevokizumab has a high affinity for IL-1\u03b2 and a long t1\/2, which would allow for once-monthly dosing and offer a considerable advantage for patients over agents requiring more frequent dosing.","54cf45e7f693c3b16b00000a_008":"Calsequestrin, the main calcium buffer in the sarcoplasmic reticulum, provides a pool of calcium for release through the RyR and acts as a luminal calcium sensor for the channel via its interactions with triadin and junctin","56c048acef6e39474100001c_033":"Imetelstat is a 13-mer lipid-conjugated oligonucleotide that targets the RNA template of human telomerase reverse transcriptase.METHODS: We sought to obtain preliminary information on the therapeutic activity and safety of imetelstat in patients with high-risk or intermediate-2-risk myelofibrosis. ","58a6db8660087bc10a00002c_006":"In Saccharomyces cerevisiae, deposition of histone H2AZ is mediated by the multiprotein SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ.","5147c8a6d24251bc05000027_004":"Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disorder caused by the deficiency of galactocerebrosidase (GALC) activity.","5506c3e38e1671127b00000a_026":"The sodium-calcium exchanger (NCX) is one of the transporters contributing to the control of intracellular calcium (Ca(2+)) concentration by normally mediating net Ca(2+) efflux. However, the reverse mode of the NCX can cause intracellular Ca(2+) concentration overload, which exacerbates the myocardial tissue injury resulting from ischemia. Although the NCX inhibitor SEA0400 has been shown to therapeutically reduce myocardial injury, no in vivo technique exists to monitor intracellular Ca(2+) fluctuations produced by this drug.","53357ca0d6d3ac6a3400004b_005":"Effects of fostamatinib (R788), an oral spleen tyrosine kinase inhibitor, on health-related quality of life in patients with active rheumatoid arthritis: analyses of patient-reported outcomes from a randomized, double-blind, placebo-controlled trial.","56ed0ffe2ac5ed1459000008_011":"Safety and tolerability of ixazomib, an oral proteasome inhibitor, in combination with lenalidomide and dexamethasone in patients with previously untreated multiple myeloma: an open-label phase 1\/2 study.","572096c90fd6f91b6800000e_017":"Giant Axonal Neuropathy is a pediatric neurodegenerative disorder caused by autosomal recessive mutations in the GAN gene on chromosome 16q24.1.","589a246078275d0c4a00002a_012":"The purpose was to summarize US prescribing information for teriflunomide in the treatment of patients with relapsing forms of multiple sclerosis (RMS), with reference to clinical efficacy and safety outcomes.In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial","56c079b1ef6e394741000022_011":".CONCLUSIONS: Idarucizumab completely reversed the anticoagulant effect of dabigatran within minutes.","5a70d42899e2c3af26000002_005":"ATS is caused by mutations in the SLC2A10 gene, which encodes the facilitative glucose transporter 10 (GLUT10). Approximately 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene.","5a74e9ad0384be955100000a_010":"selective estrogen receptor modulator (SERM) ","5a7234352dc08e987e000007_010":"the authors report a case of neuronal ceroid lipofuscinosis kufs disease confirmed by stereotactically obtained brain biopsy findings and initially diagnosed as a butterfly glioma the presenting symptoms in the 64 year old patient were mental alterations with progressive dementia followed by muscular atrophy and myoclonia with distal preponderance the mild initial disturbances of coordination increased and the patient developed a markedly ataxic gait computerized tomography ct scanning and magnetic resonance imaging revealed generalized cerebral atrophy and a bifrontal space occupying lesion involving the callosum the original clearcut diagnosis of glioblastoma multiforme based on ct scans was unexpectedly disproved by examination of stereotactically obtained brain biopsy specimens which revealed a neuronal ceroid lipofuscinosis kufs disease to the authors knowledge this is the first report of a case presenting with both diffuse brain atrophy and localized accumulation of neuronal lipofuscin mimicking a mass lesion on radiological studies.","52fa6ac72059c6d71c000055_004":"Transcription factor BACH1 [BTB (broad-complex, tramtrack and bric-a-brac) and CNC (cap'n'collar protein) homology 1] binds to ARE-like sequences, functioning as a transcriptional repressor ","56c073fcef6e394741000020_002":"Spermidine protects against \u03b1-synuclein neurotoxicity","5880b073c872c95565000003_044":"New antidotes are being explored, including a mouse monoclonal antibody to dabigatran; andexanet alfa, a potential universal factor Xa inhibitor reversal agent; and a synthetic small molecule (PER977) that may be effective for the reversal of factor Xa inhibitors and direct thrombin inhibitors.","52bf19c503868f1b06000001_002":"Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle involvement.","52f21b722059c6d71c00000b_004":"Patients who tested positive for germlineTP53 mutations (n = 30) were compared with controls (n = 79). Human epidermal growth factor receptor 2 (HER2) amplification and\/or overexpression was found in 67% of the tumors from the cases, compared with 25% for the controls (P = .0001).","53357193d6d3ac6a34000047_016":"More recently, the Janus kinase (JAK) inhibitor tofacitinib has been evaluated as a potential new treatment option in RA and is awaiting approval.","51404dd723fec90375000002_001":"In the absence of DNA substrate, the DNA methyltransferase (MTase) M.BspRI can methylate itself using the methyl donor S-adenosyl-L-methionine (AdoMet). The methyl group is transferred to two Cys residues of the MTase.","55242d512c8b63434a000006_028":"This study was performed to identify and characterize the radiometabolites of the serotonin 5-HT2A receptor ligand [18F]altanserin in supporting quantification of the target receptors by positron emission tomography","550f0e4c6a8cde6b72000003_028":"Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candidate gene as causative of FSHD. However, DUX4 expression is extremely low in FSHD muscle, and there is no DUX4 animal model that mirrors the pathology in human FSHD. Here, we show that the misexpression of very low levels of human DUX4 in zebrafish development recapitulates the phenotypes seen in human FSHD patients.","58bca2f302b8c6095300000c_004":"CONTEXT: Turner syndrome (TS) is the most common genetic problem affecting women and occurs when an X chromosome is completely deleted, portions of an X chromosome are deleted, or chromosomal mosaicism occurs. ","5a7237672dc08e987e000008_013":"Dabigatran etexilate is an oral thrombin inhibitor that can be reversed by idarucizumab.","5a70e4b399e2c3af26000008_001":"Glecaprevir and pibrentasvir are direct-acting antiviral agents being developed as combination therapy for the treatment of chronic hepatitis C virus infection. ","58f4b25e70f9fc6f0f000011_003":"We compared its performance with that of Hy's Law, which predicts severity of DILI based on levels of alanine aminotransferase or aspartate aminotransferase and total bilirubin, and validated the model in a separate sample.We conducted a retrospective cohort study of 15,353 Kaiser Permanente Northern California members diagnosed with DILI from 2004 through 2010, liver aminotransferase levels above the upper limit of normal, and no pre-existing liver disease.","58861d413b87a8a738000002_015":"The present study focused on platelet serotonin (5-HT) concentration and symptoms of comorbid depression in war veterans with or without PTSD.PTSD and depression were evaluated using Clinician Administered PTSD Scale, Davidson Trauma Scale, Montgomery-Asberg Depression Rating Scale and Hamilton Anxiety Scale.","58adc1ff9ef3c34033000006_012":"TFIIB also cross-links to terminator regions and is required for gene loops that juxtapose promoter-terminator elements in a transcription-dependent manner.","514a0a57d24251bc05000051_026":"Flumazenil, a specific benzodiazepine antagonist, is useful in reversing the sedation and respiratory depression that often occur when benzodiazepines are administered to patients undergoing anesthesia or when patients have taken an intentional benzodiazepine overdose.","5353aedb288f4dae47000006_022":"chromosome inactivation begins when a novel chromosomal RNA (cRNA) from the imprinted mouse Xist or human XIST locus coats or \"paints\" one X chromosome in cis and initiates a cascade of chromosome remodeling events","5149f494d24251bc0500004c_004":"Naloxone hydrochloride, an injectable opioid antagonist which reverses the respiratory depression, sedation and hypotension associated with opioids, has long been used to treat opioid overdose. ","56ecfd572ac5ed1459000002_003":"Further, new orally administered second-generation PI oprozomib is being investigated.","58eb9542eda5a57672000007_034":"By immunoprecipitation we find that WRAP53 associates with the Cajal body marker coilin, the splicing regulatory protein SMN, and the nuclear import receptor importin\u03b2, and that WRAP53 is essential for complex formation between SMN-coilin and SMN-importin\u03b2.","530cefaaad0bf1360c00000d_019":"A girl with Williams syndrome (WS) presented with elevated thyrotropin (TSH) levels (7.0 microU\/ml), normal free thyroid hormone concentrations, and absent antithyroid autoantibodies.","56c079b1ef6e394741000022_008":"Idarucizumab for Dabigatran Reversal.","530cefaaad0bf1360c00000d_008":"In this report we describe an infant with WBS and congenital hypothyroidism, due to an important thyroid hypoplasia. The patient, a 1-month-old female, negative at primary neonatal thyroid screening, was referred to our hospital for dyspnea. Thyroid function tests showed a raised TSH (42 mIU\/l; normal range 0.5-4 mIU\/l) with a low FT(4) concentration (10.21 pmol\/l; normal range: 10.29-24.45 pmol\/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas (99m)Tc-pertechnetate thyroid scintigraphy evidenced a thyroid gland in normal position, with reduced shape and overall weak fixation. ","5a7237672dc08e987e000008_022":"Idarucizumab, a monoclonal antibody fragment, directly binds dabigatran etexilate and neutralizes its activity.","53262cdcd6d3ac6a34000003_006":"In high-risk patients (e.g. age < 50 years, post-partum, large-gauge-needle puncture), patients should be offered early (within 24-48 h of dural puncture) epidural blood patch","5506c3e38e1671127b00000a_030":"We investigated the expression of Na(+)\/Ca(2+) exchanger (NCX) and the functional role of NCX in retinal damage by using NCX1-heterozygous deficient mice (NCX1(+\/-)) and SEA0400 (2-[4-[(2,5-difluorophenyl)methoxy] phenoxy]-5-ethoxyaniline), a selective NCX inhibitor in vivo. ","5324bdba9b2d7acc7e00001a_002":"Early identification of bladder changes by noninvasive transabdominal ultrasound","550e828c71445a662f000002_001":"Gevokizumab is a potent anti-IL-1\u03b2 antibody being developed as a treatment for diseases in which IL-1\u03b2 has been associated with pathogenesis. Previous data indicated that gevokizumab negatively modulates IL-1\u03b2 signaling through an allosteric mechanism. ","5a774fdcfaa1ab7d2e000008_027":"These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.","58d8e6818acda3452900000a_005":"Heart rates in MS patients with the FBN1 mutation were increased in both the supine position and orthostatic test (p<0.001).","5540b9800083d1bf0e000002_005":"The spectrin heterodimer is formed by the antiparallel lateral association of an alpha and a beta subunit","516e7fda298dcd4e51000081_003":"Plants synthesize S-methylmethionine (SMM) from S-adenosylmethionine (AdoMet), and methionine (Met) by a unique reaction and, like other organisms, use SMM as a methyl donor for Met synthesis from homocysteine (Hcy).","550f0e4c6a8cde6b72000003_040":"Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q.","58bc5e2202b8c60953000002_011":"Interest in the proteins has been heightened by the discovery that gene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS).","58a32efe60087bc10a000013_052":"Do methicillin resistant staphylococcus (MRSA) carrier patients influence MRSA infection more than MRSA-carrier medical officers and MRSA-carrier family?","589d965a78275d0c4a000049_019":"MicroRNA genes are transcribed by RNA polymerase II.","553c9f96f32186855800000c_002":"These elements are organized as large clusters, so-called gene regulatory blocks (GRBs) around key developmental genes.","55242d512c8b63434a000006_031":"Characterization of radioactive metabolites of 5-HT2A receptor PET ligand [18F]altanserin in human and rodent.","5a895f51fcd1d6a10c000004_002":"In all instances, CTCF and cohesin recruitment were lost, and chromatin loops with distal, convergent CTCF sites were disrupted or destabilized.","56c079b1ef6e394741000022_004":"Thus, idarucizumab prevents excess intracerebral hematoma formation in mice anticoagulated with dabigatran and reduces mortality.","550f0e4c6a8cde6b72000003_020":"Paired-like homeodomain transcription factor 1 (PITX1) was proposed to be part of the disease mechanisms of facioscapulohumeral muscular dystrophy (FSHD).","516e7fda298dcd4e51000081_005":"To investigate if tumor growth is dependent on the enzymatic activity of Ezh2, we developed a potent and selective small molecule inhibitor, EI1, which inhibits the enzymatic activity of Ezh2 through direct binding to the enzyme and competing with the methyl group donor S-Adenosyl methionine.","5881f9b65bf093691f000001_002":"Neurodevelopment. Parasympathetic neurons originate from nerve-associated peripheral glial progenitors.","5a7234352dc08e987e000007_012":"in humans high grade gliomas may infiltrate across the corpus callosum resulting in bihemispheric lesions that may have symmetrical winged like appearances this particular tumor manifestation has been coined a butterfly glioma bg while canine and human gliomas share many neuroradiological and pathological features the bg morphology has not been previously reported in dogs here we describe the magnetic resonance imaging mri characteristics of bg in three dogs and review the potential differential diagnoses based on neuroimaging findings all dogs presented for generalized seizures and interictal neurological deficits referable to multifocal or diffuse forebrain disease mri examinations revealed asymmetrical 2 3 or symmetrical 1 3 bihemispheric intra axial mass lesions that predominantly affected the frontoparietal lobes that were associated with extensive perilesional edema and involvement of the corpus callosum the masses displayed heterogeneous t1 t2 and fluid attenuated inversion recovery signal intensities variable contrast enhancement 2 3 and mass effect all tumors demonstrated classical histopathological features of glioblastoma multiforme gbm including glial cell pseudopalisading serpentine necrosis microvascular proliferation as well as invasion of the corpus callosum by neoplastic astrocytes although rare gbm should be considered a differential diagnosis in dogs with an mri evidence of asymmetric or symmetric bilateral intra axial cerebral mass lesions with signal characteristics compatible with glioma.","58cdb41302b8c60953000042_019":"The Ehlers-Danlos syndrome is characterized by abnormal connective tissue ","589a246078275d0c4a00002a_028":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","56c4d14ab04e159d0e000003_001":"Here, we compared the efficiency of two different transposon systems, Sleeping Beauty (SB) and piggyBac (PB), for the generation of murine iPS. ","58bfd0db02b8c60953000017_002":"MC54L, the IL-18 binding protein of the human poxvirus that causes molluscum contagiosum, is unique in having a C-terminal tail of nearly 100 amino acids that is dispensable for IL-18 binding.","58a6db8660087bc10a00002c_014":"The SWR1 complex (SWR1C) in yeast catalyzes the replacement of nucleosomal H2A with the H2AZ variant, which ensures full activation of underlying genes.","587e07023ec846c24f000001_002":"Prior to downstream inference, data from these types of targeted enrichment studies must undergo preprocessing to assemble contigs from sequence data; identify targeted, enriched loci from the off-target background data; align enriched contigs representing conserved loci to one another; and prepare and manipulate these alignments for subsequent phylogenomic inference. PHYLUCE is an efficient and easy-to-install software package that accomplishes these tasks across hundreds of taxa and thousands of enriched loci.","54e1bdacae9738404b000009_009":"Duavee, an oral contraceptive; riociguat (Adempas) for two types of pulmonary hypertension; and macitentan (Opsumit) for pulmonary arterial hypertension","58bc8e7a02b8c60953000007_006":"Although plantar fasciitis is the most common cause of heel pain,","54d649843706e89528000009_008":"PARP inhibitor olaparib ","51405cd123fec90375000005_001":"The lysosomal storage disorder Fabry disease is characterized by excessive globotriaosylceramide (Gb3) accumulation in major organs such as the heart and kidney. Defective lysosomal alpha-galactosidase A (Gla) is responsible for excessive Gb3 accumulation, and one cell sensitive to the effects of Gb3 accumulation is vascular endothelium.","56bc77a3ac7ad10019000015_009":"The RTS,S\/AS01(E) malaria vaccine candidate has recently entered phase III testing.","5a774fdcfaa1ab7d2e000008_009":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5353aedb288f4dae47000006_023":"chromosome inactivation begins when a novel chromosomal RNA (cRNA) from the imprinted mouse Xist or human XIST locus coats or \"paints\" one X chromosome in cis and initiates a cascade of chromosome remodeling events","5ace19420340b9f05800000a_026":"Genetic analysis of melanocortin 1 receptor red hair color variants in a Russian population of Eastern Siberia.","5a742d620384be9551000002_008":"Validation of the STOP-Bang Questionnaire as a Screening Tool for Obstructive Sleep Apnea among Different Populations: A Systematic Review and Meta-Analysis.","58a2e5f760087bc10a000007_006":"The protein alpha-synuclein (AS) is the primary fibrillar component of Lewy bodies, the pathological hallmark of Parkinson's disease. ","589d965a78275d0c4a000049_005":"Plant miRNAs are first transcribed as stem-loop primary miRNAs (pri-miRNAs) by RNA polymerase II,then cleaved in the nucleus into mature miRNAs by Dicer-like 1 (DCL1).","550f0e4c6a8cde6b72000003_032":"Our results suggest that the misexpression of DUX4-fl, even at extremely low level, can recapitulate the phenotype observed in FSHD patients in a vertebrate model. These results strongly support the current hypothesis for a role of DUX4 in FSHD pathogenesis.","5505a587f73303d458000005_009":" mammalian target of rapamycin (mTOR) ","56a24dfffe92d6fd19000002_001":"Duchenne muscular dystrophy (DMD) patients using the morpholino splice-switching oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein expression after intramuscular (i.m.) injection","5505a587f73303d458000005_002":"mammalian target of rapamycin (mTOR)","5891c90949702f2e01000001_011":"UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","5353aedb288f4dae47000006_034":"one of the two X chromosomes in somatic cells of the female becomes inactivated through a process that is thought to depend on a unique initiator region, the X-chromosome inactivation center (Xic). The recently characterized Xist sequence (X-inactive-specific transcript) is thought to be a possible candidate for Xic","5880e417713cbdfd3d000001_002":"Reversion of advanced Ebola virus disease in nonhuman primates with ZMapp.","5a7617b183b0d9ea66000022_002":"The hepatocyte growth factor (HGF) binding antibody rilotumumab (AMG102) was modified for use as a89Zr-based immuno-PET imaging agent to noninvasively determine the local levels of HGF protein in tumors. ","55200c606b348bb82c000013_002":"Betrixaban , an orally administered direct factor Xa inhibitor, is entering a Phase III trial and undergoing investigation for similar indications as apixaban, dabigatran and rivaroxaban. ","587e3129c32c812009000002_003":"we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD","58cbb98c02b8c60953000034_001":"An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals","588f9950ed9bbee70d000002_002":"Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. ","5a7237672dc08e987e000008_014":"In ICH related to dabigatran, anticoagulation can be rapidly reversed with idarucizumab.","5a6f853ab750ff4455000055_008":"Wound area and depth were not found to be statistically significantly different between groups.<br><b>CONCLUSIONS<\/b>: Positive probe-to-bone test results and erythrocyte sedimentation rates greater than 70 mm\/h provide some support for the diagnosis of diabetic foot osteomyelitis, but it is not strong; magnetic resonance imaging or bone biopsy will probably be required in cases of doubt.<br>","58adc1ff9ef3c34033000006_011":"Furthermore, TFIIB interaction with the CF1 complex and Pap1 is crucial for gene looping and transcriptional regulation.","56ae57350a360a5e4500000a_001":"The physiological target for LeuRS translational quality control is norvaline.","52fe58f82059c6d71c00007a_007":"In addition, the potential multiple replication origins of the archaeon Sulfolobus solfataricus are suggested by the analysis based on the Z curve method","5506c3e38e1671127b00000a_032":"SEA0400 is a selective inhibitor of the Na(+)\/Ca(2+) exchanger having equal potencies to suppress both the forward and reverse mode operation of the Na(+)\/Ca(2+) exchanger.","5a39453d966455904c000006_001":"We introduce the subSeq R package, which uses a novel efficient approach to perform this subsampling and to calculate informative metrics at each depth","53130a77e3eabad02100000f_002":"Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance, parathyroid adenoma with hyperprolactinemia and hypoglycemia have been described. Hypoglycemia has been documented due to growth hormone and cortisol deficiency. ","5895f18ce370baff39000001_002":" In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of 88.95% sensitivity and 84.16% specificity on a large set of human miRNA genes. The trained classifier is used to identify novel miRNA gene candidates located within cancer-associated genomic regions and rank the resulting predictions using expression information from a full genome tiling array. Finally, four of the top scoring predictions are verified experimentally using northern blot analysis. Our work combines both analytical and experimental techniques to show that SSCprofiler is a highly accurate tool which can be used to identify novel miRNA gene candidates in the human genome. SSCprofiler is freely available as a web service at http:\/\/www.imbb.forth.gr\/SSCprofiler.html.","587e1bfdfc7e8dd84f000002_007":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms.","53357193d6d3ac6a34000047_020":"A total of 140 patients were randomised to tofacitinib 1, 3, 5, 10 mg or placebo twice daily and the American College of Rheumatology 20% improvement criteria (ACR20) response rate at week 12, a primary end point, was significant for all tofacitinib treatment groups. Thus, an orally available tofacitinib in combination with MTX was efficacious and had a manageable safety profile. Tofacitinib at 5 and 10 mg twice a day appears suitable for further evaluation to optimise the treatment of RA.","514a0a57d24251bc05000051_018":"Flumazenil is best left for reversal of therapeutic conscious sedation and rare select cases of benzodiazepine overdose.","5891f9e549702f2e01000002_037":"Upper limb function is normal in patients with restless legs syndrome (Willis-Ekbom Disease).","56ed03862ac5ed1459000004_004":"A gatekeeper residue for NEDD8-activating enzyme inhibition by MLN4924.","54cf7051f693c3b16b000013_003":"INTRODUCTION: A recent randomized controlled trial (RCT), the Multicenter Randomized CLinical trial of Endovascular treatment for Acute ischemic stroke in the Netherlands (MR CLEAN), demonstrated better outcomes with endovascular treatment compared with medical therapy for acute ischemic stroke (AIS).","5ad6e431133db5eb7800000e_005":"A cross-sectional descriptive and analytical study was conducted among 633 TUMS Clinical Laboratory Sciences' Students and Hospitals' Clinical Laboratories' Employees to detect color-blindness problems by Ishihara Test.","5891f9e549702f2e01000002_027":"The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS.","5324a8ac9b2d7acc7e000018_039":"BCR-ABL fusion gene represents the hallmark of chronic myelogenous leukemia (CML) and is derived from a translocation between chromosome 9 and 22.","5a742d620384be9551000002_022":"We hypothesized that the STOP-Bang questionnaire, a screening tool for obstructive sleep apnea (OSA), can predict difficult intubation.<br><b>PATIENTS AND METHODS<\/b>: In this prospective cohort study, 200 adult surgical patients undergoing surgery under general anesthesia were studied to evaluate the usefulness of the STOP-Bang questionnaire for predicting difficult intubation.","536e46f27d100faa09000012_004":"novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients","5895f7e978275d0c4a000001_007":"Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks","5ace19420340b9f05800000a_014":"We report the frequencies of MC1R variants in the British red haired population.","5324a8ac9b2d7acc7e000018_040":"CML) is characterized by the presence of the Philadelphia (Ph) chromosome, which results from a reciprocal translocation between the long arms of the chromosomes 9 and 22 t(9;22)(q34;q11). This translocation creates two new genes, BCR-ABL on the 22q- (Ph chromosome) and the reciprocal ABL-BCR on 9q-. ","5506c3e38e1671127b00000a_007":"The Na(+)\/Ca(2+)exchanger (NCX) principal function is taking 1 Ca(2+) out of the cytoplasm and introducing 3 Na(+). The increase of cytoplasmic Na(+) concentration induces the NCX reverse mode (NCX(REV)), favoring Ca(2+) influx. NCX(REV) can be inhibited by: KB-R7943 a non-specific compound that blocks voltage-dependent and store-operated Ca(2+) channels; SEA0400 that appears to be selective for NCX(REV), but difficult to obtain and SN-6, which efficacy has been shown only in cardiomyocytes.","5a68f448b750ff4455000018_002":"Corynebacterium minutissimum is the bacteria that leads to cutaneous eruptions of erythrasma and is the most common cause of interdigital foot infections. ","532dcfc9d6d3ac6a34000021_015":"SET domain, first identified within and named after proteins encoded by three Drosophila genes [Su(var)3-9, E(z), and Trithorax], is recognized as a signature motif for histone methyltransferases ","550342a8f8aee20f27000002_006":"The purpose of this article is to present a short review of the natural history of myoclonic astatic epilepsy (MAE; Doose syndrome) and the Lennox-Gastaut syndrome (LGS). ","530f900ee3eabad021000003_017":"Pathogenic mutations in the MCT8 gene, which encodes a thyroid hormone transporter, results in elevated serum triiodothyronine (T3) levels, which were confirmed in four affected males of this family, while normal levels were found among obligate carriers.","5519113b622b19434500000f_010":"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the Zinc Finger Homeobox 1 B gene (ZFHX1B)","514a0a57d24251bc05000051_020":"Flumazenil has been shown to reverse sedation caused by intoxication with benzodiazepines alone or benzodiazepines in combination with other agents, but it should not be used when cyclic antidepressant intoxication is suspected.","571e12097de986d80d000017_008":"Exposure-response modelling for empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, in patients with type 2 diabetes.","5a735cdc3b9d13c708000004_001":"This review addresses nine small-interfering RNAs (siRNAs) and one unique microRNA (miRNA) inhibitor, which entered the phase 2-3 clinical trials. The siRNAs in focus are PF-04523655, TKM-080301, Atu027, SYL040012, SYL1001, siG12D-LODER (phase 2), QPI-1002, QPI-1007, and patisiran (phase 3). ","571f5c150fd6f91b68000009_020":"The DNA abnormality found in 98% of Friedreich's ataxia chromosomes is the unstable hyperexpansion of a GAA triplet repeat in the first intron of the frataxin gene.","531464a6e3eabad021000014_032":"MLS is caused by hemizygosity for mutations in the XK gene. ","5171438a8ed59a060a000007_002":"We identified RET mutations in seven of 13 MTCs: five RET-positive cases revealed a mutation in exon 16 (M918T) and two a mutation in exon 10 (C618S and C620S). In four of the RET-positive cases, the mutation was inherited, out of which three were reportedly associated with a multiple endocrine neoplasia type 2 (MEN2) syndrome, i.e. MEN2A (C618S), MEN2A\/familial MTC (FMTC) (C620S), and MEN2B (M918T).","58c27b7102b8c60953000021_001":"Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes","52bf1b0a03868f1b06000009_013":"Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance.","5a74e9ad0384be955100000a_004":"Selective estrogen receptor modulator (SERM) ","588f2de394c1512c50000001_003":"The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The output graphics, saved in two different formats (EPS and SVG), can be easily imported to and modified in presentation and image-editing computer programs. The tool is freely distributed under GNU General Public License (GPL) and can be installed from Bioconductor or from the chromDraw home page.","5a86f074faa1ab7d2e00003a_004":"Loss of SMARCB1\/INI1 expression is considered to be a hallmark for childhood chordomas (CCs)","54f9c40ddd3fc62544000001_010":"The calcium-regulated protein phosphatase calcineurin (PP2B) functions as a regulator of gene expression in diverse tissues through the dephosphorylation and activation of a family of transcription factors known as nuclear factor of activated T cells (NFAT).","5a6e42f1b750ff4455000046_008":"Familial Mediterranean fever is a recessive  autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks.  The MEFV gene is responsible for this disease.","5547a01cf35db75526000005_009":"The unique genomic hallmarks between microsporidia and fungi are independent of sequence based phylogenetic comparisons and further contribute to define the borders of the fungal kingdom and support the classification of microsporidia as unusual derived fungi.","54d8ea2c4b1fd0d33c000002_001":"Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia and has a significant impact on morbidity and mortality.","56c1f020ef6e394741000047_017":"Crude analysis revealed no significant difference between patients with subtypes of ILAE focal cortical dysplasia type I or Palmini et al focal cortical dysplasia type I concerning postoperative outcome according to the Engel and ILAE scoring systems on seizure frequency.","5890e163621ea6ff7e000004_002":"OBJECTIVE: To investigate whether the effects of nerve growth factor (NGF) inhibition with tanezumab on rats with medial meniscal tear (MMT) effectively model rapidly progressive osteoarthritis (RPOA) observed in clinical trials.","56c85ed65795f9a73e000012_004":"Dasatinib, a small-molecule protein tyrosine kinase inhibitor, inhibits T-cell activation and proliferation.","58cdb41302b8c60953000042_026":"classic form of Ehlers-Danlos syndrome (cEDS) is an inherited connective tissue disorder, where mutations in type V collagen-encoding genes result in abnormal collagen fibrils. Thus the cEDS patients have pathological connective tissue morphology and low stiffness, but the rate of connective tissue protein turnover is unknown","5891f9e549702f2e01000002_039":"BACKGROUND: The SP790 study (ClinicalTrials.gov, NCT00136045) showed benefits of rotigotine over placebo in improving symptom severity of restless legs syndrome (RLS), also known as Willis-Ekbom disease, on the International Restless Legs Syndrome Study Group rating scale (IRLS), Clinical Global Impression item 1 (CGI-1), RLS 6-item questionnaire (RLS-6), and the RLS-quality of life questionnaire (RLS-QoL) in patients with moderate to severe idiopathic RLS.","532dcfc9d6d3ac6a34000021_004":"SET domain methyltransferases deposit methyl marks on specific histone tail lysine residues","58ee0dd5eda5a57672000013_006":"In gastric cells leptin follows a rapid regulated secretion pathway whereas adipocytes secrete leptin in a constitutive slow fashion.","56c1f003ef6e394741000039_005":"Promotion of sleep by suvorexant-a novel dual orexin receptor antagonist.","58a32efe60087bc10a000013_013":"Detection of methicillin-resistant Staphylococcus aureus (MRSA) in specimens from various body sites: performance characteristics of the BD GeneOhm MRSA assay, the Xpert MRSA assay, and broth-enriched culture in an area with a low prevalence of MRSA infections.","58a6db8660087bc10a00002c_002":"he multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z.","5a679e8cb750ff4455000006_007":"Rabies is virtually always fatal after clinical disease develops, and there have only been rare survivors. The Milwaukee protocol, which includes therapeutic coma, has been shown to be ineffective and should no longer be used.","571e2beabb137a4b0c000006_004":"Of particular interest is OCT3 expression and function in the brain, where it plays a role in serotonin clearance and influences mood and behavior. ","58f4b25e70f9fc6f0f000011_008":"Hy's Law, which states that hepatocellular drug-induced liver injury (DILI) with jaundice indicates a serious reaction, is used widely to determine risk for acute liver failure (ALF).","58f4b9d470f9fc6f0f000016_004":"The bacterium Francisella tularensis causes the vector-borne zoonotic disease tularemia, and may infect a wide range of hosts including invertebrates, mammals and birds","5324a8ac9b2d7acc7e000018_056":"hiladelphia chromosome translocation (t(9;22)) results in the molecular juxtaposition of two genes, BCR and ABL, to form an aberrant BCR-ABL gene on chromosome 22. BCR-ABL is critical to the pathogenesis of chronic myelogenous leukemia","58cf5c5a8acda34529000003_001":"Base J (\u03b2-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops.","55200c606b348bb82c000013_027":"Betrixaban is an oral direct inhibitor of factor Xa (FXa) being developed for the prevention of venous thromboembolism (VTE)","56f7c15a09dd18d46b000012_002":"The gene was mapped to a 5.5 cM interval (1.8 Mb) on chromosome 18p. Examination of genes in this interval led to the identification of homozygous mutations in LPIN2 in affected individuals from the two families. ","5a4df811966455904c00000e_012":"The RNA polymerase II itself may contain a Zn ribbon, in as much as the polymerase's 15-kDa subunit contains a sequence that aligns well with the TFIIS Zn ribbon sequence, including a similarly placed pair of acidic residues.","56ed0ffe2ac5ed1459000008_008":"Sixty patients with relapsed and\/or refractory multiple myeloma were enrolled on this phase 1 trial to evaluate safety and tolerability and determine the maximum tolerated dose (MTD) of single-agent, oral ixazomib given weekly for 3 of 4 weeks","58d8e6818acda3452900000a_036":"Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. ","532f55fed6d3ac6a34000036_004":"Gaucher disease is caused by defective glucocerebrosidase activity","56c1f03bef6e394741000053_003":"Thyroid transcription factor 1 (NKX2-1\/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). ","5324a8ac9b2d7acc7e000018_061":"CML) is characterised by the occurrence of the Philadelphia (Ph) chromosome (9\/22 translocation) and the formation of a fusion protein--the BCR-ABL transcript with constitutive activation of the BCR-ABL tyrosine kinase and consequent changes in the intracellular signal transduction, which is responsible for the deregulated myeloid cell proliferation. STI571 (signal transduction inhibition number 571) is a potent and selective inhibitor of the BCR-ABL tyrosine kinase","58a6db8660087bc10a00002c_003":"H2A.Z is deposited into chromatin by the SWR1 complex and is subject to acetylation of its four N-terminal tail lysine residues by the NuA4 and SAGA histone acetyltransferase complexes.","551fd9c06b348bb82c000012_033":"The ROSIER scale was effective in the initial differentiation of acute stroke from stroke mimics in the ER","58cbb98c02b8c60953000034_023":"Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1).","5895bc397d9090f35300000b_016":"Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures. ","5ace238e0340b9f05800000d_020":"Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.","54e0d1491388e8454a000014_011":"BACKGROUND: Evolocumab, a monoclonal antibody that inhibits proprotein convertase subtilisin\/kexin type 9 (PCSK9), significantly reduced low-density lipoprotein (LDL) cholesterol levels in phase 2 studies. ","588f9f83ed9bbee70d000004_002":"Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.","5a7877c0faa1ab7d2e00000c_001":"Sarcoidosis represents a non-caseating, granulomatous disorder of unknown aetiology whose clinical manifestation is heterogeneous and frequently multisystemic. The portion of patients needing systemic treatment varies: though many patients may undergo spontaneous remission, organ-threatening courses demand systemic therapy. Corticosteroids are the first-line treatment option","5540b9800083d1bf0e000002_011":"The spectrin heterodimer is formed by the antiparallel lateral association of an alpha and a beta subunit, each of which comprises largely a series of homologous triple-helical motifs","571cdd227de986d80d00000f_001":" the causative bacteria Yersinia pestis as an agent of biological warfare have highlighted the need for a safe, efficacious, and rapidly producible vaccine. ","589a246078275d0c4a00002a_035":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.","58861d413b87a8a738000002_016":"The present study focused on platelet serotonin (5-HT) concentration and symptoms of comorbid depression in war veterans with or without PTSD.PTSD and depression were evaluated using Clinician Administered PTSD Scale, Davidson Trauma Scale, Montgomery-Asberg Depression Rating Scale and Hamilton Anxiety Scale.","58eb9542eda5a57672000007_007":"Additionally, we provide evidence of coilin involvement in the processing of human telomerase RNA both in vitro and in vivo.","55054f8af73303d458000002_003":"Archaeological bones are usually dated by radiocarbon measurement of extracted collagen. ","56c1f01def6e394741000045_004":"NTERPRETATION: In chemotherapy-naive patients with metastatic castration-resistant prostate cancer, radiographic progression-free survival was prolonged with orteronel plus prednisone versus placebo plus prednisone.","58a2e5f760087bc10a000007_005":"For alpha-synuclein, the major protein component of Lewy bodies associated with Parkinson's disease, we have used a combination of ssNMR and biochemical data to identify the key region for self-aggregation of the protein as residues 77-82 (VAQKTV). ","54f9cb34dd3fc62544000002_005":"The HS-1 associated protein X-1 (HAX-1) is a ubiquitously expressed protein that protects cardiomyocytes from programmed cell death. Here we identify HAX-1 as a regulator of contractility and calcium cycling in the heart. HAX-1 overexpression reduced sarcoplasmic reticulum Ca-ATPase (SERCA2) pump activity in isolated cardiomyocytes and in vivo, leading to depressed myocyte calcium kinetics and mechanics.","5ace19420340b9f05800000a_049":"Melanocortin receptor 1 (MC1R) and agouti signaling protein (ASIP) are two major genes affecting coat color phenotypes in mammals, and inactivation mutations in the MC1R gene are responsible for red coat color in European pig breeds.","56cf236f3975bb303a000002_001":"Given evidence that chemotherapy-induced neuropathic pain is blocked by ethosuximide, known to block T-type calcium channels, we examined if more selective T-type calcium channel blockers and also inhibitors of cystathionine-\u03b3-lyase (CSE), a major H\u2082S-forming enzyme in the peripheral tissue, are capable of reversing the neuropathic pain evoked by paclitaxel, an anti-cancer drug.","550f0e4c6a8cde6b72000003_014":"Facioscapulohumeral Disease (FSHD) is a dominantly inherited progressive myopathy associated with aberrant production of the transcription factor, Double Homeobox Protein 4 (DUX4).","517818508ed59a060a000035_002":"Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2.","5a68f448b750ff4455000018_004":"BACKGROUND Erythrasma is a superficial skin infection caused by Corynebacterium minutissimum .","5ace19420340b9f05800000a_024":"The MC1R gene plays a crucial role in pigmentation synthesis. Loss-of-function MC1R variants, which impair protein function, are associated with red hair color (RHC) phenotype and increased skin cancer risk.","5ace19420340b9f05800000a_018":"The majority of red-heads (red-haired persons) are compound heterozygotes or homozygotes for up to five frequent loss-of-function mutations. A minority of redheads are, however, only heterozygote. The MC1R is, therefore, a major determinant of sun sensitivity and a genetic risk factor for melanoma and non-melanoma skin cancer.","587e2300fc7e8dd84f000004_003":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier. MethPed is available via Bioconductor: http:\/\/bioconductor.org\/packages\/MethPed\/","58a57f9460087bc10a00001f_015":"This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.","5a774fdcfaa1ab7d2e000008_007":"In this study, we identified the Tudor-interacting repair regulator (TIRR) that specifically associates with the ionizing radiation-induced foci formation region of 53BP1. 53BP1 and TIRR form a stable complex, which is required for their expression. Moreover, the 53BP1-TIRR complex dissociates after DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent. Similar to 53BP1, loss of TIRR restores PARPi resistance in BRCA1-deficient cells. Collectively, our data identified a novel 53BP1-TIRR complex in DNA damage response. TIRR may play both positive and negative roles in 53BP1 regulation. On the one hand, it stabilizes 53BP1 and thus positively regulates 53BP1. On the other hand, its association with 53BP1 prevents 53BP1 localization to sites of DNA damage, and thus TIRR is also an inhibitor of 53BP1.","5313058de3eabad02100000e_007":"Repeated fluoroscopically guided injections implicated a symptomatic L6-S1 facet joint contralateral to an anomalous lumbosacral articulation. ","56c048acef6e39474100001c_026":"Telomerase Inhibitor Imetelstat in Patients with Essential Thrombocythemia.","58a57f9460087bc10a00001f_014":"Tietz syndrome (hypopigmentation\/deafness) caused by mutation of MITF.","5a8b1264fcd1d6a10c00001d_003":"Fusarium wilt is one of the most prevalent and damaging diseases of tomato. Among various toxins secreted by the Fusarium oxysporum f. sp. lycopersici (causal agent of Fusarium wilt of tomato)","52ece29f98d023950500002c_003":"When thyroid hormone production was reduced by PTU, high doses of LT(4) (3.7 microg\/kg.d) were needed to normalize serum TSH, confirming that mutation of MCT8 is a cause of resistance to thyroid hormone","53130a77e3eabad02100000f_003":"Growth hormone deficiency in Costello syndrome.","590c74d170f9fc6f0f00001e_004":"Yeast studies defined a 7-bp consensus sterol-response element (SRE) common to genes involved in sterol biosynthesis and two transcription factors, Upc2 and Ecm22, which direct transcription of sterol biosynthetic genes.","55242d512c8b63434a000006_019":"This study was performed to identify and characterize the radiometabolites of the serotonin 5-HT2A receptor ligand [18F]altanserin in supporting quantification of the target receptors by positron emission tomography.","53357ca0d6d3ac6a3400004b_006":"Pharmacokinetics of fostamatinib, a spleen tyrosine kinase (SYK) inhibitor, in healthy human subjects following single and multiple oral dosing in three phase I studies.","530cefaaad0bf1360c00000d_005":"In this report we describe an infant with WBS and congenital hypothyroidism, due to an important thyroid hypoplasia. The patient, a 1-month-old female, negative at primary neonatal thyroid screening, was referred to our hospital for dyspnea. Thyroid function tests showed a raised TSH (42 mIU\/l; normal range 0.5-4 mIU\/l) with a low FT(4) concentration (10.21 pmol\/l; normal range: 10.29-24.45 pmol\/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas (99m)Tc-pertechnetate thyroid scintigraphy evidenced a thyroid gland in normal position, with reduced shape and overall weak fixation. ","531464a6e3eabad021000014_011":"A novel XK splice site mutation (IVS1-1G>A) has been identified in a McLeod patient who has developed hematologic, neuromuscular, and neurologic symptoms. This is the first reported example of a XK point mutation affecting the 3' acceptor splice site of Intron 1, and it was demonstrated that this mutation indeed induces aberrant splicing of XK RNA and lack of XK protein at the RBC membrane.","55421ee7ccca0ce74b000002_023":"Commonly referred as a \"guardian of the genome\", p53 is responsible for determining the fate of the cell when the integrity of its genome is damaged.","54e0e902ae9738404b000001_001":"mDia proteins are members of the formin family of actin nucleating proteins that polymerize linear actin filaments.","58a32efe60087bc10a000013_044":"There are few more compelling questions in clinical microbiology today than the issue of whether or not to screen for the presence of methicillin-resistant Staphylococcus aureus (MRSA), with the results being used to institute infection control interventions aimed at preventing transmission of MRSA in health care environments.","5895f7e978275d0c4a000001_003":"An acute illness (Jamaican vomiting sickness) which affected two adults after eating unripe ackee fruit was investigated.","5343fc1aaeec6fbd07000003_001":"Individuals with NF1 harbor 1 mutated NF1 allele","54df695b1388e8454a000004_008":"Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study.","5540ca8a0083d1bf0e000003_011":"The results indicate that administration of thyroid hormone and retinoic acid increases the expression of Ki67, a nuclear antigen associated with cell proliferation, and of nestin, a marker protein for precursor cells in the subventricular zone of adult male rats","58a32efe60087bc10a000013_021":"Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.","55054f8af73303d458000002_004":"we describe three complementary preparative HPLC procedures suitable for separating and isolating single amino acids from bone collagen or hair keratin with minimal isotopic contamination. ","5891f9e549702f2e01000002_024":"Since the publication of the first European Federation of Neurological Societies (EFNS) guidelines in 2005 on the management of restless legs syndrome (RLS; also known as Willis-Ekbom disease), there have been major therapeutic advances in the field.","58a32efe60087bc10a000013_014":"Detection of methicillin-resistant Staphylococcus aureus (MRSA) in specimens from various body sites: performance characteristics of the BD GeneOhm MRSA assay, the Xpert MRSA assay, and broth-enriched culture in an area with a low prevalence of MRSA infections.","58d906b28acda3452900000d_002":"Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. ","58d8e6818acda3452900000a_020":"Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.","5a70d42899e2c3af26000002_002":"Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder caused by loss-of-function mutations in SLC2A10, which encodes facilitative glucose transporter 10 (GLUT10).","5ace12be0340b9f058000007_012":"An adequate amount of functional FOXP2 protein is thought to be critical for the proper development of the neural circuitry underlying speech and language.","55421ee7ccca0ce74b000002_022":"Tumor suppressor p53 functions as a \"guardian of the genome\" to prevent cells from transformation. p53 is constitutively ubiquitinated and degradated in unstressed conditions, thereby suppressing the expression.","5880aef4c872c95565000001_016":"In the last few weeks, the FDA approved three new therapies for multiple myeloma: ixazomib, the first oral proteasome inhibitor; and daratumumab and elotuzumab, two monoclonal antibodies that target CD38 and SLAMF7, respectively. <CopyrightInformation>\u00a92016 American Association for Cancer Research.<\/C","55421ee7ccca0ce74b000002_026":"p53 has been referred to as the guardian of the genome because of its role in protecting the cell from DNA damage. p53 performs its duties by regulating cell-cycle progression and DNA repair and, in cases of irreparable DNA damage, by executing programmed cell death.","51716e808ed59a060a00000b_002":"n Europe the primary arthropod vectors of zoonotic diseases are ticks, which transmit Borrelia burgdorferi sensu lato (the agent of Lyme disease), tick-borne encephalitis virus and louping ill virus between humans, livestock and wildlife. Ixodes ricinus ticks and reported tick-borne disease cases are currently increasing in the UK","54f60ae05f206a0c06000008_001":"The inulinase acts on the beta-(2,1)-D-fructoside links in inulin releasing D-fructose. ","5ace37d50340b9f058000011_008":"AIDS is the main predisposing condition for cryptococcal meningitis, and thus the profile of most patients mirrors that of HIV infection.","58861d413b87a8a738000002_017":"The present study focused on platelet serotonin (5-HT) concentration and symptoms of comorbid depression in war veterans with or without PTSD.PTSD and depression were evaluated using Clinician Administered PTSD Scale, Davidson Trauma Scale, Montgomery-Asberg Depression Rating Scale and Hamilton Anxiety Scale.","5519113b622b19434500000f_026":"A similar issue of differential diagnosis was raised by a large 4.3 Mb 2q22.3q23.1 deletion encompassing ZEB2, the gene responsible for the Mowat-Wilson syndrome, whose signs may overlap with RSTS","55054f8af73303d458000002_008":"In archaeological studies, the isotopic enrichment values of carbon and nitrogen in bone collagen give a degree of information on dietary composition. ","5343fc1aaeec6fbd07000003_036":"neurofibromatosis type 1 (NF1) gene, well recognized for its high frequency of spontaneous mutations.","550e828c71445a662f000002_003":"These data indicate, therefore, that gevokizumab is a unique inhibitor of IL-1\u03b2 signaling that may offer an alternative to current therapies for IL-1\u03b2-associated autoinflammatory diseases.","5891f9e549702f2e01000002_014":"Since the publication of the first European Federation of Neurological Societies (EFNS) guidelines in 2005 on the management of restless legs syndrome (RLS; also known as Willis-Ekbom disease), there have been major therapeutic advances in the field","589a246078275d0c4a00002a_010":"Teriflunomide treatment was also associated with significant efficacy on MRI measures of disease activity in TEMSO; both doses significantly reduced total lesion volume and number of gadolinium-enhancing T1 lesions.","571f5c150fd6f91b68000009_021":"Interestingly, Drosophila frataxin (dfh), which causes Friedreich's ataxia if mutated in humans, displayed an interacting effect with Al, suggesting Friedreich's ataxia patients might be more susceptible to Al toxicity.","58cdb41302b8c60953000042_018":"Ehlers-Danlos syndrome type 4, the vascular type, is a rare, life-threatening inherited disorder of the connective tissue.","5505db6a8e1671127b000003_001":" Keratins form the intermediate filaments of the cytoskeleton and provide scaffold structures within cells.","5a761ac3aacfb9cd4c000002_012":"Doege-Potter syndrome is a paraneoplastic syndrome characterized by tumor-associated hypoglycemia secondary to a solitary fibrous tumor of the pleura.","58cbb98c02b8c60953000034_068":"Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.","571f5e740fd6f91b6800000b_001":"Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase","55421ee7ccca0ce74b000002_014":"The tumor suppressor p53 is often referred to as \"the guardian of the genome\" because of its central role in the cellular response to oncogenic stress and prevention of tumor development.","54f9c40ddd3fc62544000001_008":"Transcription factors of the NFAT (nuclear factor of activated T cells) family are expressed in most immune system cells and in a range of other cell types. Signaling through NFAT is implicated in the regulation of transcription for the immune response and other processes, including differentiation and apoptosis. NFAT normally resides in the cytoplasm, and a key aspect of the NFAT activation pathway is the regulation of its nuclear import by the Ca(2+)\/calmodulin-dependent phosphatase calcineurin. ","5540ca8a0083d1bf0e000003_004":"the typical protein of neural progenitors, nestin","58bfd8e902b8c60953000018_013":"However, it has not been associated previously with necrobiosis lipoidica diabeticorum (NBL), a rare skin manifestation of diabetes mellitus.","56c1d856ef6e394741000032_001":"This study aims to investigate whether an association exists between the ficolins that are part of the lectin complement pathway and SLE. ","5a9dad764e03427e73000007_003":"Prevention of dementia by intensive vascular care (PreDIVA): a cluster-randomized trial in progress.","589317e849702f2e01000005_003":"In this article, with a much larger number of built-in properties, we are to propose a much more flexible web server called Pse-in-One (http:\/\/bioinformatics.hitsz.edu.cn\/Pse-in-One\/), which can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences. Particularly, it can also generate those feature vectors with the properties defined by users themselves. These feature vectors can be easily combined with machine-learning algorithms to develop computational predictors and analysis methods for various tasks in bioinformatics and system biology. It is anticipated that the Pse-in-One web server will become a very useful tool in computational proteomics, genomics, as well as biological sequence analysis.","58a57f9460087bc10a00001f_021":"Mutations of the MITF gene may lead to hereditary diseases: Waardenburg type II and Tietz syndromes.","5ace37d50340b9f058000011_002":"The incidence of infection with Cryptococcus neoformans has increased four-fold in the last decade. It is an increasing cause of infection in immunosuppressed patients, most notably those with HIV infection. Currently, 4.0% patients with AIDS in the United Kingdom are known to have developed cryptococcosis.","56b710f276d8bf8d13000003_011":"Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. ","587e2300fc7e8dd84f000004_012":"The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier.","56c079b1ef6e394741000022_007":"Safety, tolerability, and efficacy of idarucizumab for the reversal of the anticoagulant effect of dabigatran in healthy male volunteers: a randomised, placebo-controlled, double-blind phase 1 trial.","54f89e1a06d9727f76000001_004":"CaM kinase II activation was inhibited by KN-93 pretreatment (IC(50) approximately 1 microM)","58cf5c5a8acda34529000003_002":"Base J (\u03b2-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops","5ace17c30340b9f058000009_001":"A previously reported association between the olfactory receptor OR7D4 and the androstenone was not detected until we specifically typed this gene (P = 1.1 \u00d7 10(-4)). ","588f8e9794c1512c50000005_006":"Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation","58a32efe60087bc10a000013_042":"This article explains what methicillin-resistant Staphylococcus aureus (MRSA) is, how it is spread and what the real challenges are in healthcare settings in the UK.","54d907c84b1fd0d33c000008_001":"Mepolizumab, a humanized monoclonal antibody that binds to and inactivates interleukin-5, has been shown to reduce asthma exacerbations in patients with severe eosinophilic asthma.","533ea8fcc45e133714000010_009":"RNA stem-loop structure, the SECIS element in the 3 untranslated region of (UTR) selenoprotein mRNAs","53357193d6d3ac6a34000047_006":"Tofacitinib, which is a Janus kinase (JAK) inhibitor, has shown clinical effects in the treatment of rheumatoid arthritis. ","550f0e4c6a8cde6b72000003_035":"Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatic tissues.","5880dba9c872c95565000009_010":"Targeted inhibition of CDK4\/6 pathway by small-molecule inhibitors palbociclib (PD-0332991) and ribociclib (LEE011) resulted in inhibition of cell-cycle progression, amelioration of kidney injury, and improved overall survival. ","53357ca0d6d3ac6a3400004b_007":"Fostamatinib (R788) is an orally dosed prodrug designed to deliver the active metabolite R940406 (R406), a spleen tyrosine kinase (SYK) inhibitor, for the treatment of rheumatoid arthritis.","58c6635f02b8c60953000023_001":" The investigation of the patient's whole family showed the typical recessive X-linked inheritance of this enzyme-defect. ","56d1da3b67f0cb3d66000006_002":"To investigate the gain of regulatory elements throughout vertebrate evolution, we identified genome-wide sets of putative regulatory regions for five vertebrates, including humans. These putative regulatory regions are conserved nonexonic elements (CNEEs), which are evolutionarily conserved yet do not overlap any coding or noncoding mature transcript. We then inferred the branch on which each CNEE came under selective constraint. Our analysis identified three extended periods in the evolution of gene regulatory elements. Early vertebrate evolution was characterized by regulatory gains near transcription factors and developmental genes, but this trend was replaced by innovations near extracellular signaling genes, and then innovations near posttranslational protein modifiers.","5a6e24a5b750ff445500003c_002":"the recount2 resource is composed of over 70 000 uniformly processed human rna seq samples spanning tcga and sra including gtex the processed data can be accessed via the recount2 website and the bioconductor package this workflow explains in detail how to use the package and how to integrate it with other bioconductor packages for several analyses that can be carried out with the recount2 resource in particular we describe how the coverage count matrices were computed in recount2 as well as different ways of obtaining public metadata which can facilitate downstream analyses step by step directions show how to do a gene level differential expression analysis visualize base level genome coverage data and perform an analyses at multiple feature levels this workflow thus provides further information to understand the data in recount2 and a compendium of r code to use the data.","516be1d6298dcd4e5100006a_003":"Most cases were sporadic, but in addition there were instances of both autosomal dominant and autosomal recessive inheritance, while two families showed mosaicism for dominant mutations.","5353aedb288f4dae47000006_008":"transcriptional silencing of one of the female X-chromosomes is a finely regulated process that requires accumulation in cis of the long non-coding RNA X-inactive-specific transcript (Xist)","5a742d620384be9551000002_009":"Validation of a Portuguese version of the STOP-Bang questionnaire as a screening tool for obstructive sleep apnea: Analysis in a sleep clinic.","56c1f020ef6e394741000047_014":"Of the 91 patients, there were 50 patients with ILAE focal cortical dysplasia type Ib, 41 with ILAE focal cortical dysplasia type Ic, 63 with Palmini et al focal cortical dysplasia type IA, and 28 with Palmini et al focal cortical dysplasia type IB.","58a32efe60087bc10a000013_064":" methicillin-resistant Staphylococcus aureus (MRSA)","530cefaaad0bf1360c00000d_021":"Additional periodic evaluations during childhood: serum concentration of calcium, thyroid function, hearing, and renal and bladder ultrasound examination. Periodic evaluations during adulthood: glucose tolerance; cardiac evaluation for mitral valve prolapse, aortic insufficiency, and arterial stenosis; and ophthalmologic evaluation for cataracts.","5519110f622b19434500000c_002":" The radiological features were characterized by late-onset craniosynostosis, arachnodactyly, undermodeling of short tubular bones, mildly undermodeled and slightly bowed long bones, twisted ribs and tall vertebral bodies with elongated neural arches","5a774fdcfaa1ab7d2e000008_011":"P53-binding protein 1 (53BP1) is a multi-functional double-strand break repair protein that is essential for class switch recombination in B lymphocytes and for sensitizing BRCA1-deficient tumours to poly-ADP-ribose polymerase-1 (PARP) inhibitors. Central to all 53BP1 activities is its recruitment to double-strand breaks via the interaction of the tandem Tudor domain with dimethylated lysine 20 of histone H4 (H4K20me2). Here we identify an uncharacterized protein, Tudor interacting repair regulator (TIRR), that directly binds the tandem Tudor domain and masks its H4K20me2 binding motif. Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and recruits RAP1-interacting factor 1 (RIF1) to dissociate the 53BP1-TIRR complex. However, overexpression of TIRR impedes 53BP1 function by blocking its localization to double-strand breaks. Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1. These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.","550ea8f1b305b40c5c000005_002":"OBJECTIVE: To assess the 1-year safety profile of the dopaminergic stabilizer pridopidine in patients with Huntington disease.","5540ca8a0083d1bf0e000003_008":"The results indicate that administration of thyroid hormone and retinoic acid increases the expression of Ki67, a nuclear antigen associated with cell proliferation, and of nestin, a marker protein for precursor cells in the subventricular zone of adult male rats.","550618f58e1671127b000007_004":"Inhibitor 1 (I-1) is a protein inhibitor of protein phosphatase 1 (PP1), the predominating Ser\/Thr phosphatase in the heart.","5a68f005b750ff4455000016_022":"These results suggest that individuals with borderline personality disorder benefited equally from dialectical behavior therapy and a well-specified treatment delivered by psychiatrists with expertise in the treatment of borderline personality disorder..","5353aedb288f4dae47000006_017":"Xist (X-inactive specific transcript) and Tsix gene pair, which is pivotal in X-inactivation.","58a32efe60087bc10a000013_043":"Methicillin-resistant Staphylococcus aureus (MRSA) is an emerging threat to public health, especially in correctional settings.","5ace19420340b9f05800000a_025":"The MC1R gene plays a crucial role in pigmentation synthesis. Loss-of-function MC1R variants, which impair protein function, are associated with red hair color (RHC) phenotype and increased skin cancer risk.","56c1f03bef6e394741000053_005":"Thyroid transcription factor 1 (NKX2-1\/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present study were (i) detection of NKX2-1 mutations in patients with CH associated with pneumopathy and\/or BHC, (ii) functional analysis of new mutations in vitro and (iii) description of the phenotypic spectrum of brain-lung-thyroid syndrome.","590c74d170f9fc6f0f00001e_003":"The zinc cluster proteins Ecm22, Upc2, Sut1 and Sut2 have initially been identified as regulators of sterol import in the budding yeast Saccharomyces cerevisiae.","56c1f040ef6e394741000055_002":"The importance of IgG4 in the predictive model of thyroiditis.","5ab1483bfcf4565872000014_001":"domestic dogs and cats can be interpreted in terms of their descent from members of the order Carnivora.","51631154298dcd4e5100004e_004":"the use of thalidomide to treat multiple myeloma, and describe problems arising in the Thaled\u00ae outpatient department. METHODS: Multiple myeloma patients treated with thalidomide at Hitachi General Hospital.","55032efde9bde69634000035_012":"BACKGROUND: Telcagepant is an oral calcitonin gene-related peptide receptor antagonist with acute antimigraine efficacy comparable to oral triptans","5a6e24a5b750ff445500003c_005":"the recount2 resource is composed of over 70 000 uniformly processed human rna seq samples spanning tcga and sra including gtex the processed data can be accessed via the recount2 website and the bioconductor package this workflow explains in detail how to use the package and how to integrate it with other bioconductor packages for several analyses that can be carried out with the recount2 resource in particular we describe how the coverage count matrices were computed in recount2 as well as different ways of obtaining public metadata which can facilitate downstream analyses step by step directions show how to do a gene level differential expression analysis visualize base level genome coverage data and perform an analyses at multiple feature levels this workflow thus provides further information to understand the data in recount2 and a compendium of r code to use the data.","514a0a57d24251bc05000051_009":"Flumazenil is a potent benzodiazepine antagonist that competitively blocks the central effects of benzodiazepines. It can reverse the sedative effects of benzodiazepines occurring after diagnostic or therapeutic procedures or after benzodiazepine overdose.","56ed0ffe2ac5ed1459000008_013":"In a phase 1\/2 trial we aimed to assess the safety, tolerability, and activity of ixazomib in combination with lenalidomide and dexamethasone in newly diagnosed multiple myeloma.METHODS: We enrolled patients newly diagnosed with multiple myeloma aged 18 years or older with measurable disease, Eastern Cooperative Oncology Group performance status 0-2, and no grade 2 or higher peripheral neuropathy, and treated them with oral ixazomib (days 1, 8, 15) plus lenalidomide 25 mg (days 1-21) and dexamethasone 40 mg (days 1, 8, 15, 22) for up to 12 28-day cycles, followed by maintenance therapy with ixazomib alone. ","56cdf40d5795f9a73e00003d_001":"Transcription factor EB (TFEB) is the only known transcription factor that is a master regulator of lysosomal biogenesis although its role in macrophages has not been studied. ","52fa6ac72059c6d71c000055_008":"ach1 is a transcriptional repressor of the heme oxygenase (HO)-1 gene. ","5a7347a02dc08e987e00001b_001":"The host-pathogen interactions occurring in the gallbladder during Salmonella Typhi colonization contribute to typhoid fever pathogenesis during the acute and chronic stages of disease. The gallbladder is the primary reservoir during chronic typhoid carriage.","5a8b27e6fcd1d6a10c00001e_001":"Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal DNA is becoming part of routine clinical practice. RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods. The input to RAPIDR is a set of sequence alignment files in the BAM format, and the outputs are calls for aneuploidy, including trisomies 13, 18, 21 and monosomy X as well as fetal sex. RAPIDR has been extensively tested with a large sample set as part of the RAPID project in the UK. The package contains quality control steps to make it robust for use in the clinical setting.","56c1f020ef6e394741000047_024":"Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed - from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011.","5519110f622b19434500000c_004":"The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of disorders characterized by craniosynostosis and marfanoid features.","5324a8ac9b2d7acc7e000018_013":"The cytogenetic characteristic of Chronic Myeloid Leukemia (CML) is the formation of the Philadelphia chromosome gene product, BCR-ABL. Given that BCR-ABL is the specific target of Gleevec in CML treatment, ","56ed03862ac5ed1459000004_008":"MLN4924 is a first-in-class experimental cancer drug that inhibits the NEDD8-activating enzyme, thereby inhibiting cullin-RING E3 ubiquitin ligases and stabilizing many cullin substrates","58bc8e7a02b8c60953000007_004":"Plantar fasciitis (PF)is the most common cause of plantar heel pain","589d965a78275d0c4a000049_006":"miRNAs are excised in a stepwise process from double-stranded RNA precursors that are embedded in long RNA polymerase II primary transcripts (pri-miRNA).","589185cc621ea6ff7e00000b_007":"OBJECTIVE: To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).METHODS: Nusinersen was delivered by intrathecal injection to medically stable patients with type 2 and type 3 SMA aged 2-14 years in an open-label phase 1 study and its long-term extension. ","58d0dc878acda34529000004_004":"The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source. ","5518e7da622b194345000004_003":" c-jun N-terminal kinase (JNK) of mitogen-activated protein kinase (MAPK) family ","58e9e7aa3e8b6dc87c00000d_010":"While several ADAR enzymes are present in mice, the presence of a single ADAR in Drosophila, combined with the diverse genetic toolkit available to researchers and the wide range of ADAR target mRNAs identified to date, make Drosophila an ideal organism to study the genetic basis of A-to-I RNA editing","5abcf010fcf4565872000023_001":"In this study, it was aimed to determine whether median nerve epineurectomy is beneficial in the surgical management of carpal tunnel syndrome","56b710f276d8bf8d13000003_006":"Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopathy of childhood, is caused by mutations in a novel lysosomal membrane protein (CLN3) with unknown function.","571e12097de986d80d000017_012":"Sodium glucose cotransporter 2 (SGLT2) inhibitors are a new class of treatment for T2DM that reduce hyperglycemia by reducing renal glucose reabsorption and thereby increasing urinary glucose excretion.This paper reviews the pharmacokinetic and pharmacodynamic properties of the SGLT2 inhibitor empagliflozin , the results of clinical trials investigating the efficacy of empagliflozin given as monotherapy or as add-on therapy on glycemic control, body weight, and blood pressure in patients with T2DM, and the safety and tolerability profile of empagliflozin.Empagliflozin offers good glycemic efficacy, weight loss, blood pressure reduction, and a low risk of hypoglycemia.","54f9b74306d9727f76000004_021":"We report that a new drug, the 1,4-benzothiazepine derivative JTV519, reverses this pathogenic process","550f0e4c6a8cde6b72000003_042":"Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle.","56c1f020ef6e394741000047_021":"In detail, according to Palmini's classification, mild malformations of cortical development (mMCDs) were disclosed in three patients, focal cortical dysplasia (FCD) type Ia in three patients, and FCD type Ib in five patients. ","56bc751eac7ad10019000013_005":"Acrokeratosis paraneoplastica (Bazex syndrome) with oropharyngeal squamous cell carcinoma.","5a86f074faa1ab7d2e00003a_005":"Loss of SMARCB1\/INI1 expression is considered to be a hallmark for childhood chordomas (CCs)","58cbb98c02b8c60953000034_058":"Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disease resulting from mutations of the tyrosinase gene (TYR).","56c1f02aef6e39474100004b_003":"An interleukin-6 neutralizing antibody, siltuximab (CNTO 328) could inhibit STAT3 tyrosine phosphorylation in a cell-dependent manner.","58bfd8e902b8c60953000018_019":"Necrobiosis lipoidica is an idiopathic dermatological condition that is strongly associated with diabetes mellitus.","531464a6e3eabad021000014_017":"A variety of mutations have been found in the responsible gene (XK) including single nonsense and missense mutations, nucleotide mutations at or near the splice junctions of introns of XK, and different deletion mutations. ","58cbb98c02b8c60953000034_046":"Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1). ","5895bc397d9090f35300000b_024":"CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes.","5891f9e549702f2e01000002_026":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is a sensorimotor disorder that can result in considerable sleep disruption.","58cbb98c02b8c60953000034_057":"Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disease resulting from mutations of the tyrosinase gene (TYR).","55032efde9bde69634000035_008":"BACKGROUND: Telcagepant is an oral calcitonin gene-related peptide receptor antagonist which is being evaluated for the acute treatment of migraine. ","51635202298dcd4e5100004f_001":"Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3.","571e14fbbb137a4b0c000001_001":"Empagliflozin, an SGLT2 inhibitor for the treatment of type 2 diabetes mellitus: a review of the evidence.","54e0c3e71388e8454a000013_011":"In summary, orteronel potently inhibited the 17,20-lyase activity of monkey and human CYP17A1 and reduced serum androgen levels in vivo in monkeys.","531464a6e3eabad021000014_058":"We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome. ","58e9e7aa3e8b6dc87c00000d_002":"TIRs were deduced to form dsRNAs as a putative target of ADAR. ","5891c90949702f2e01000001_012":"UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.","54fc91e96ad7dcbc12000001_001":"Recently, CQ and its analog PBT2 have shown encouraging effects in the animal and clinical trials for Alzheimer's disease (AD). ","55242d512c8b63434a000006_009":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent antagonist of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (9, 10). This led to the development of 3-{2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl}-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (11). 5-HT2A antagonists bind to the total pool of receptors, whereas 5-HT2A agonists bind only to the high-affinity functional state of the receptor but may be more important in disease states because the high affinity sites are the ones that transmit the intracellular signals. ","5353aedb288f4dae47000006_015":"X-inactive-specific transcript (Xist) gene ","58d8e6818acda3452900000a_030":"Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes","56bc7d71ac7ad10019000018_003":"EXPERT OPINION: Delamanid showed potent activity against drug-susceptible and -resistant Mycobacterium tuberculosis in both in vitro and in vivo studies.","5a8b1264fcd1d6a10c00001d_005":"In vitro antifugal activity of medicinal plant extract against Fusarium oxysporum f. sp. lycopersici race 3 the causal agent of tomato wilt.","5a6f960fb750ff445500005c_002":"Conclusion. Our study concludes that addition of petechiae over the palate to Centor Criteria will increase the possibility of diagnosing acute group A streptococcal pharyngitis in children.","5518e7da622b194345000004_007":" c-Jun N-terminal kinases (JNK) ","56c5feb75795f9a73e000006_001":"The commonest CFTR mutation, deltaF508, is found in 74.1% of all CF chromosomes. In the Caucasian CF population, 57.5% are deltaF508 homozygotes but the UK ISC CF population with only 24.7%, has significantly fewer deltaF508 homozygotes patients (95% confidence interval (CI) 0.2-0.4).","51631154298dcd4e5100004e_012":"BOR showed a higher rate of effectiveness than THAL for refractory multiple myeloma, and its effects were rapid. BOR treatment prolonged the survival time of THAL-resistant patients. The efficacy of BOR was unrelated to patient age, the number of previous therapeutic regimens, or the disease period.","5891b125621ea6ff7e00000e_015":"Taliglucerase alfa (Protalix Biotherapeutics, Israel) is a carrot-cell-expressed recombinant human beta-glucocerebrosidase recently approved in the United States for the treatment of type 1 Gaucher disease (GD). ","514a0a57d24251bc05000051_022":"The mean CGIS score at 10 minutes for benzodiazepine-positive patients treated with flumazenil was 1.95 versus 3.58 for those given placebo.","56b76d916e3f8eaf4c000001_001":"Zika virus (ZIKV; genus Flavivirus, family Flaviviridae) ","58e9e7aa3e8b6dc87c00000d_016":"The RNA editing enzyme ADAR chemically modifies adenosine (A) to inosine (I), which is interpreted by the ribosome as a guanosine.","56c1f020ef6e394741000047_010":"Ten of the 12 patients (83%) who had adequate tissue excised adjacent to the meningioangiomatosis demonstrated evidence of focal cortical dysplasia, with 6 of those (60%) classified as Palmini type IA, and 4 patients (40%) classified as Palmini type IIA.","5353aedb288f4dae47000006_033":"XIST (X inactive specific transcript) gene ","589a246078275d0c4a00002a_007":"METHODS: In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial. ","532dcfc9d6d3ac6a34000021_018":"SET domain histone methyltransferase","5547a01cf35db75526000005_003":"Microsporidia are unicellular fungi that are obligate endoparasites. ","58bc8e7a02b8c60953000007_002":"Plantar fasciitis (PF) is present in 10% of the population and is the most common cause of plantar heel pain","5324a8ac9b2d7acc7e000018_043":"CML) is the first human malignancy for which the promise of targeted therapy has come true. CML is invariably associated with a specific genetic lesion--the t(9;22) chromosomal translocation. As a consequence of this translocation, a BCR-ABL fusion gene","5880aef4c872c95565000001_006":"Daratumumab, a novel therapeutic human CD38 monoclonal antibody, induces killing of multiple myeloma and other hematological tumors.","53318685d6d3ac6a3400003d_003":"Finally, WMS is transmitted either by an autosomal dominant or an autosomal recessive (AR) mode of inheritance, GD by an autosomal recessive mode of inheritance and AD by an autosomal dominant mode of inheritance. ","56c1f01def6e394741000045_012":"We assessed orteronel in chemotherapy-naive patients with metastatic castration-resistant prostate cancer.","571e14fbbb137a4b0c000001_004":"To evaluate the pharmacodynamics, pharmacokinetics, safety and tolerability of empagliflozin in Japanese patients with type 2 diabetes mellitus.","52bf1b0a03868f1b06000009_012":"The overall sex ratio of patients was nearly 1:1, and genetic analysis of 20 families confirmed an autosomal recessive mode of inheritance. ","58cdb41302b8c60953000042_009":"The Ehlers-Danlos syndromes (EDS) comprise a heterogenous group of heritable disorders of connective tissue, characterized by joint hypermobility, skin hyperextensibility and tissue fragility","5ace19420340b9f05800000a_044":"The genetic basis for red hair involves specific mutations, red hair color (RHC) alleles, in the melanocortin-1 receptor (MC1R) gene.","589185cc621ea6ff7e00000b_012":"BACKGROUND: Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy.METHODS: This open-label, phase 2, escalating dose clinical study assessed the safety and tolerability, pharmacokinetics, and clinical efficacy of multiple intrathecal doses of nusinersen (6 mg and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy. ","5343fc1aaeec6fbd07000003_010":"Neurofibromatosis type 1 (NF1) is a common disorder of dysregulated tissue growth secondary to mutations in the tumor suppressor gene NF1","58a2e5f760087bc10a000007_016":"Human \u03b1-synuclein is a small-sized, natively unfolded protein that in fibrillar form is the primary component of Lewy bodies, the pathological hallmark of Parkinson's disease.","56e0447a51531f7e3300000b_014":"Viroids, satellite RNAs, satellites viruses and the human hepatitis delta virus form the &apos;brotherhood&apos; of the smallest known infectious RNA agents, known as the subviral RNAs.","514a0a57d24251bc05000051_040":"The mean +\/- SD CGIS score at ten minutes for BDZ-positive patients was 1.41 +\/- 0.72 for patients who received flumazenil and 3.41 +\/- 0.91 for the placebo group (P < .01). There was no difference in the mean CGIS score between the flumazenil (3.25 +\/- 1.15) and placebo (3.75 +\/- 0.69) groups in BDZ-negative patients. The GCS and NAS were also significantly better in patients who were BDZ-positive and received flumazenil.","532dcfc9d6d3ac6a34000021_002":" a SET domain histone methyltransferase ","5343fc1aaeec6fbd07000003_023":"type 1 (NF1) is one of the most common human genetic disorders and is associated with significant morbidity and mortality. The gene responsible for this disorder, NF1, encodes neurofibromin,","58a32efe60087bc10a000013_011":"To assess whether vancomycin minimum inhibitory concentration (MIC) creeps among clinical isolates of methicillin-resistant Staphylococcus aureus (MRSA) in a regional hospital in China","54e0c3e71388e8454a000013_001":"Preclinical assessment of Orteronel(\u00ae), a CYP17A1 enzyme inhibitor in rats.","5ace238e0340b9f05800000d_008":"Origin of human chromosome 2: an ancestral telomere-telomere fusion.","58bfd8e902b8c60953000018_005":"More than half of the patients with necrobiosis lipoidica diabeticorum have diabetes mellitus, but less than one per cent of diabetes mellitus patients have necrobiosis lipoidica diabeticorum.","58d8e6818acda3452900000a_016":"Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.","5545186cbf90a13052000002_009":"The proficient repair of the nontranscribed strand cannot be explained by the dedicated subpathway of transcription-coupled repair (TCR), which is targeted to the transcribed strand in expressed genes.","58ee0dd5eda5a57672000013_005":"These results show that there is a distinct female-type and male-type leptin pulsatility pattern and each is amenable to augmentation by gonadal steroids either involving mechanisms that impart leptin pulsatility patterns directly at the level of adipocytes and\/or at hypothalamic target sites..","5880b073c872c95565000003_016":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.","52ee9f55c8da898910000009_006":"A family with the Romano-Ward syndrome is presented. This family showed typical features of this syndrome with QT prolongation, torsades de pointes ventricular tachycardia, sudden death and an autosomal dominant inheritance pattern. ","5506c3e38e1671127b00000a_051":"In addition, the effects of SEA0400 on reperfusion injury in vitro and in vivo were examined. SEA0400 was extremely more potent than KB-R7943 in inhibiting Na+-dependent Ca2+ uptake in cultured neurons, astrocytes, and microglia: IC50s of SEA0400 and KB-R7943 were 5 to 33 nM and 2 to 4 microM, respectively. SEA0400 at the concentration range that inhibited NCX exhibited negligible affinities for the Ca2+ channels, Na+ channels, K+ channels, norepinephrine transporter, and 14 receptors, and did not affect the activities of the Na+\/H+ exchanger, Na+,K+-ATPase, Ca2+-ATPase, and five enzymes.","589a246078275d0c4a00002a_026":"The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","571e275dbb137a4b0c000005_001":"The dipeptidyl peptidase-4 (DPP-4) inhibitors linagliptin, sitagliptin, saxagliptin, vildagliptin and alogliptin are being developed and have been approved for the treatment of type-2 diabetes. ","5a742d620384be9551000002_010":"<b>PURPOSE OF REVIEW<\/b>: The present review aims to provide an update on the various practical applications of the STOP-Bang questionnaire in anesthesia, surgery, and perioperative medicine.<br><b>RECENT FINDINGS<\/b>: The STOP-Bang questionnaire was originally validated as a screening tool to identify surgical patients who are at high-risk of obstructive sleep apnea (OSA).","58cbb98c02b8c60953000034_015":"Mutations in the human tyrosinase gene produce tyrosinase-related oculocutaneous albinism (OCA1, MIM #203100). Tyrosinase is a copper containing enzyme and is responsible for catalyzing the rate limiting step in melanin biosynthesis, the hydroxylation of tyrosine to dopaquinone. We report 13 new mutations in the tyrosinase gene associated with OCA1A (without pigment) and OCA1B (with pigment) including 9 missense mutations (H19Q, R521, R77C, G97R, C289R, L312V, P313R, F340L and H404P), two nonsense mutations (W80X and R116X) and two frameshift mutations (53delG and 223 delG). ","52ece29f98d023950500002c_002":"Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.","58a644e560087bc10a000027_003":"These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.","589317e849702f2e01000005_006":"In this article, with a much larger number of built-in properties, we are to propose a much more flexible web server called Pse-in-One (http:\/\/bioinformatics.hitsz.edu.cn\/Pse-in-One\/), which can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences","532f55fed6d3ac6a34000036_013":"aucher disease, resulting from the decreased activity of the lysosomal enzyme glucocerebrosidase","5a79d0b8faa1ab7d2e00000d_004":"Lagging strand DNA replication requires the concerted actions of DNA polymerase \u03b4, Fen1 and DNA ligase I for the removal of the RNA\/DNA primers before ligation of Okazaki fragments.","58a57f9460087bc10a00001f_010":"Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.","532dcfc9d6d3ac6a34000021_007":"histone modification is catalyzed by protein lysine methyltransferases (PKMTs). PKMTs contain a conserved SET domain","54df695b1388e8454a000004_006":"Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (\"lubag\") in women.","53189656b166e2b80600001c_001":"alpha-Synuclein immunoreactivity in dementia with Lewy bodies","5ace238e0340b9f05800000d_010":"We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.","531af8cbb166e2b80600003a_001":"The most relevant non-HLA gene single nucleotide polymorphisms (SNPs) associated with RA include PTPN22, IL23R, TRAF1, CTLA4, IRF5, STAT4, CCR6, PADI4. Large genome-wide association studies (GWAS) have identified more than 30 loci involved in RA pathogenesis.","514a0a57d24251bc05000051_015":"Unconscious patients (n = 110) suspected of benzodiazepine overdose, graded 2 to 4 on the Matthew and Lawson coma scale, were treated with flumazenil, the specific benzodiazepine receptor antagonist.","55180ef46487737b43000006_022":"Dermatitis herpetiformis (DH) is an autoimmune blistering skin disorder that is associated with gluten sensitivity.","56a39d60496b62f23f000006_001":"r3Cseq: an R\/Bioconductor package for the discovery of long-range genomic interactions from chromosome conformation capture and next-generation sequencing data.","58eb9542eda5a57672000007_030":"A defect in this activity caused a significant accumulation of the Cajal body marker protein coilin in nucleoli.","58861d413b87a8a738000002_019":"Although rates of trauma and PTSD are higher in those with bipolar disorder than in the general population, little is known about differences across bipolar subtypes.Using the NIMH STEP-BD dataset (N=3158), this study evaluated whether there were baseline differences in the prevalence of PTSD between participants with bipolar disorder I (BDI) and bipolar disorder II (BDII), using the MINI and the Davidson Trauma Scale.","5ace12be0340b9f058000007_005":"Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development.","56c04412ef6e39474100001b_008":"This article focuses on the basic and clinical aspects of several emerging and promising novel MoAbs for MM, such as elotuzumab which targets CS1 and daratumumab which targets CD38. ","587f7a69d8d850a152000001_008":"We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching.","5547a01cf35db75526000005_012":"The preponderance of evidence as to the origin of the microsporidia reveals a close relationship with the fungi, either within the kingdom or as a sister group to it.","531464a6e3eabad021000014_006":"Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.","56c8f4615795f9a73e00001a_012":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework.","5353aedb288f4dae47000006_006":"efforts have been focused on the X inactive-specific transcript (Xist) locus, discovered to be the master regulator of X-inactivation","56b710f276d8bf8d13000003_007":"the human CLN3 gene that is defective in Batten disease,","53357193d6d3ac6a34000047_002":"Tofacitinib is the first oral Janus kinase inhibitor indicated for treatment of moderate to severe RA.","5a992b371d1251d03b00000a_001":"The importance of microbiome constituency is so relevant that several consortia like the Human Microbiome project (HMP) and Metagenomics of the Human Intestinal Tract (MetaHIT) project are focusing mainly on the human microbiome. ","5118dd1305c10fae75000001_006":" Responses to treatment over time were better among men in this prebiologic era; women had worse progression despite similar treatment.","56c8f4615795f9a73e00001a_002":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species.","55032e65e9bde69634000034_004":"Imaging showed resolution of the infection and features of Dyke-Davidoff-Masson syndrome (cerebral hemiatrophy). ","589a246078275d0c4a00002a_033":"BACKGROUND: The Teriflunomide Multiple Sclerosis Oral (TEMSO) trial, a randomized, double-blind, placebo-controlled phase III study, demonstrated that teriflunomide significantly reduced annualized relapse rate (ARR), disease progression and magnetic resonance imaging (MRI) activity, with a favorable safety profile in relapsing multiple sclerosis (RMS) patients.OBJECTIVE: The purpose of this study was to report the effects of teriflunomide on ARR and disability progression in pre-specified subgroups.METHODS: RMS patients (n=1088) were randomized to placebo or teriflunomide, 7 mg or 14 mg, once daily, for 108 weeks.","5a896c26fcd1d6a10c000007_006":"Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands.","5abcf010fcf4565872000023_003":"Carpal tunnel syndrome (CTS) is a focal compressive neuropathy of the median nerve at the level of the wrist.","57138eb21174fb175500000a_003":"Ataxin-3 (AT3) is the protein that triggers the inherited neurodegenerative disorder spinocerebellar ataxia type 3 when its polyglutamine (polyQ) stretch close to the C-terminus exceeds a critical length","55421ee7ccca0ce74b000002_009":"The p53 gene is a tumor suppressor gene that acts as \"guardian of the genome.","54f9c40ddd3fc62544000001_013":"The functions of NFAT proteins are directly controlled by the calcium- and calmodulin-dependent phosphatase calcineurin.","5880aef4c872c95565000001_012":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope. ","5ace12be0340b9f058000007_013":"CONCLUSIONS Our results reveal novel regulatory functions of the human FOXP2 3' UTR sequence and regulatory interactions between multiple miRNAs and the human FOXP2 gene.","55201a316b348bb82c000019_003":"The sedimentation coefficient of the intact monosome was about 55 S. ","589a246078275d0c4a00002a_013":"The purpose was to summarize US prescribing information for teriflunomide in the treatment of patients with relapsing forms of multiple sclerosis (RMS), with reference to clinical efficacy and safety outcomes.In September 2012, the US Food and Drug Administration granted approval for the use of teriflunomide, 14 mg and 7 mg once daily, to treat RMS on the basis of the results of a Phase II study and the Phase III TEMSO (Teriflunomide Multiple Sclerosis Oral) trial","55242d512c8b63434a000006_017":"Quantification of 5-HT2A receptors in the human brain using [18F]altanserin-PET and the bolus\/infusion approach.","56bc77a3ac7ad10019000015_014":"The RTS,S\/AS01(E) candidate malaria vaccine is being developed for immunisation of infants in Africa through the expanded programme on immunisation (EPI)","58d8e6818acda3452900000a_012":"While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene.","56c1f01def6e394741000045_009":"We evaluated the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor effect of orteronel with or without prednisolone in Japanese patients with castration-resistant prostate cancer (CRPC).","5a4e50b242878bf97d000001_005":"Since DNA topoisomerase II (EC 5.99.1.3) is an essential enzyme in yeast, heterologous topoisomerase II gene expression in yeast cells can provide a system for analyzing the structure and function of topoisomerase II genes from other species.","58bfd8e902b8c60953000018_015":"Necrobiosis lipoidica diabeticorum (NLD) is a rare degenerative connective tissue disorder associated with diabetes mellitus, which usually presents with red papules or plaques with raised edges and occasional ulceration.","550f0e4c6a8cde6b72000003_038":"Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed in FSHD but not control myoblasts. DUX4 and its target genes contribute to the global dysregulation of gene expression observed in FSHD. ","5343fc1aaeec6fbd07000003_032":"NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas","5a4e50b242878bf97d000001_009":"The decatenation activity of DNA topoisomerase II is essential for viability as eukaryotic cells traverse mitosis.","52fa6ac72059c6d71c000055_010":"Bach1 is a transcriptional repressor of the HO-1 gene","5a76179d83b0d9ea66000021_007":"When used in conjunction with R\/Bioconductor packages, the SeqArray package provides users a flexible, feature-rich, high-performance programming environment for analysis of WGS variant data.","5a6fa61ab750ff4455000060_003":"FullSSR is a new bioinformatic tool for microsatellite (SSR) loci detection and primer design using genomic data from NGS assay.","58a6db8660087bc10a00002c_001":"The chromatin remodeler SWR1 mediates site-specific incorporation of H2A.Z by a multi-step histone replacement reaction, evicting histone H2A-H2B from the canonical nucleosome and depositing the H2A.Z-H2B dimer","5a7428090384be9551000001_006":"When Wells Criteria were trichotomized into low pretest probability (n=59, 44%), moderate pretest probability (n=61, 46%), or high pretest probability (n=14, 10%), the pulmonary embolism prevalence was 2%, 15%, and 43%, respectively.","55200c606b348bb82c000013_015":"[Pharmacologic and clinical characteristics of direct inhibitors of factor Xa: rivaroxaban, apixaban, edoxaban and betrixaban].","571f5e740fd6f91b6800000b_003":"Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase.","58bca2f302b8c6095300000c_007":"45,X Turner's syndrome in monozygotic twin sisters.","531464a6e3eabad021000014_037":"Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.","5a895f51fcd1d6a10c000004_004":"CTCF sites at loop anchors occur predominantly (>90%) in a convergent orientation, with the asymmetric motifs \"facing\" one another. ","5717dbfe7de986d80d000001_003":"Mitochondrial fission is mediated by dynamin-related protein 1 (Drp1),","58e7902b3e8b6dc87c000007_001":"A five gene type I IFN signature was assessed in these subjects to identify subpopulations showing both activation and concordance of the type I IFN pathway in the peripheral blood and disease-affected tissues of each disease and to correlate activation of this pathway in the WB with clinical measurements.R","5709ee36cf1c32585100001e_001":"Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.","5540b9800083d1bf0e000002_003":"human erythroid alpha-spectrin repeats 13 and 14 (HEalpha13,14) and human erythroid beta-spectrin repeats 8 and 9 (HEbeta8,9), are located opposite each other on antiparallel spectrin dimers.","589317e849702f2e01000005_001":"Pse-in-One: a web server for generating various modes of pseudo components of DNA, RNA, and protein sequences.","55421ee7ccca0ce74b000002_043":"The tumor suppressor p53 is known as a guardian of the genome that mediates the cellular response to environmental stress, leading to cell cycle arrest or cell death","5891f9e549702f2e01000002_020":"STUDY OBJECTIVES: Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease. ","56d860ad51531f7e33000002_003":"Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.","58efa1b870f9fc6f0f000003_001":"The term \"chemobrain\" is sometimes used to denote deficits in neuropsychological functioning that may occur as a result of cancer treatment. ","533be71dfd9a95ea0d000009_001":"MLL1 (Mixed Lineage Leukemia 1), a histone methyltransferase that methylates H3K4 residues","56b1f4300a360a5e4500001b_001":"Human cystatin C (HCC) is a low molecular weight member of the cystatin family (type2). HCC consists of 120 amino acids. Normally it is an inhibitor of cysteine proteases, but in pathological conditions it forms amyloid fibrils in brain arteries of young adults. An 'aggregation-prone' pentapeptide ((47)LQVVR(51)) was located within the HCC sequence using AmylPred, an 'aggregation-prone' peptide prediction algorithm developed in our lab. This peptide was synthesized and self-assembled into amyloid-like fibrils in vitro, as electron microscopy, X-ray fiber diffraction, Attenuated Total Reflectance Fourier-Transform Spectroscopy and Congo red staining studies reveal. Thus, the (47)LQVVR(51) peptide seems to have an important role in HCC fibrillization.","5148691bd24251bc0500002d_005":"M3\/6 is a dual-specificity phosphatase selective for JNK","58a32efe60087bc10a000013_002":"(MRSA, methicillin-resistant S. aureus)","56d1f790f22319765a000001_004":"Two types of epidermal growth factor receptor (EGFR) mutations in exon 19 and exon 21 (ex19del and L858R) are prevalent in lung cancer patients and sensitive to targeted EGFR inhibition. A resistance mutation in exon 20 (T790M) has been found to accompany drug treatment when patients relapse. ","58f4b9d470f9fc6f0f000016_003":"Tularemia is a bacterial zoonotic disease that is caused by Francisella tularensis and among the infectious reasons that cause fever of unknown origin (FUO) in children","530cefaaad0bf1360c000012_012":"The results are consistent with the hypothesis that a primary iron insufficiency produces a dopaminergic abnormality characterized as an overly activated dopaminergic system as part of the RLS pathology.","56c4d14ab04e159d0e000003_002":"In this study, we compared the genomic integration efficiencies and transposition site preferences of Sleeping Beauty (SB or SB11), Tol2, and piggyBac (PB) transposon systems in primary T cells derived from peripheral blood lymphocytes (PBL) and umbilical cord blood (UCB). We found that PB demonstrated the highest efficiency of stable gene transfer in PBL-derived T cells, whereas SB11 and Tol2 mediated intermediate and lowest efficiencies, respectively. ","530cefaaad0bf1360c000012_002":"Deficiency of iron and decreased inhibition function of spinal cord may lead to the occurrence of RLS in PD patients. ","58a57f9460087bc10a00001f_012":"Mutations in microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome type 2 (WS2), a dominantly inherited disorder involving hearing loss and pigment disturbances caused by a lack of melanocytes. On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. ","5a9e202bde7cb99d40000002_003":"Using highly-sensitive Proximity Extension ImmunoAssay on 92 cancer biomarkers (Proseek","5519110f622b19434500000c_008":"Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis and marfanoid habitus.","5abcf010fcf4565872000023_006":"The carpal tunnel syndrome is a neuropathy due to trapping (focal lesion of the peripheral nerve due to a local cause); in this case, the median nerve is the most commonly involved.","550f0e4c6a8cde6b72000003_041":"Our results suggest that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease.","5353aedb288f4dae47000006_025":" In X chromosome inactivation (XCI), unfavorable XCI ratios promote X-linked disease penetrance in females. During XCI, one X is randomly silenced by Xist","553c9f96f32186855800000c_001":"We were wondering whether this approach could provide insights about utlraconserved non-coding elements (UCNEs). These elements are organized as large clusters, so-called gene regulatory blocks (GRBs) around key developmental genes. Their molecular functions and the reasons for their high degree of conservation remain enigmatic","5a774fdcfaa1ab7d2e000008_014":"P53-binding protein 1 (53BP1) is a multi-functional double-strand break repair protein that is essential for class switch recombination in B lymphocytes and for sensitizing BRCA1-deficient tumours to poly-ADP-ribose polymerase-1 (PARP) inhibitors. Central to all 53BP1 activities is its recruitment to double-strand breaks via the interaction of the tandem Tudor domain with dimethylated lysine 20 of histone H4 (H4K20me2). Here we identify an uncharacterized protein, Tudor interacting repair regulator (TIRR), that directly binds the tandem Tudor domain and masks its H4K20me2 binding motif. Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1 and recruits RAP1-interacting factor 1 (RIF1) to dissociate the 53BP1-TIRR complex. However, overexpression of TIRR impedes 53BP1 function by blocking its localization to double-strand breaks. Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1. These findings identify TIRR as a new factor that influences double-strand break repair using a unique mechanism of masking the histone methyl-lysine binding function of 53BP1.","5324bdba9b2d7acc7e00001a_010":"transvaginal ultrasound measurement of bladder wall thickness","5717dbfe7de986d80d000001_021":"Dynamic regulation of mitochondrial fission through modification of the dynamin-related protein Drp1.","5519113b622b19434500000f_014":"Mutations leading to haploinsufficiency of the ZFHX1B gene have been described as the underlying cause of this condition. We report on the clinical findings in a 2(1\/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene.","5324a8ac9b2d7acc7e000018_041":"BCR-ABL tyrosine kinase is the critical pathogenetic event in CML and an ideal target for therapy. This was confirmed in clinical trials of imatinib","58a32efe60087bc10a000013_058":"Methicillin-resistant Staphylococcus aureus (MRSA)","551fd9c06b348bb82c000012_006":" Two adult stroke recognition tools; ROSIER (Recognition of Stroke in the Emergency Room) and FAST (Face Arm Speech Test) scales were applied retrospectively to all patients to determine test sensitivity. ","55475dc2f35db75526000001_003":"Botulism in horses in the USA is attributed to Clostridium botulinum types A, B or C.","56c3320a50c68dd416000008_005":"Current meconium screening trials which may be effective in populations with the incidence equal to or greater than 1:2000, may be useful for populations with an incidence as low as 1:7000 only after maximum improvement of the methods. Once the true incidence or the variable incidence is proven for Caucasian populations, screening trails in Negro, Oriental and Indian populations will be required.","56c4d14ab04e159d0e000003_004":"In this study we directly compared the genomic integration efficiencies of piggyBac, hyperactive Sleeping Beauty (SB11), Tol2, and Mos1 in four mammalian cell lines. piggyBac demonstrated significantly higher transposition activity in all cell lines whereas Mos1 had no activity.","5a72329e2dc08e987e000006_006":"To evaluate the usefulness of the PPFA sign, we compared the PPFA sign with the falciform ligament sign and the ligamentum teres sign, both of which are well-known CT signs of pneumoperitoneum.","58d8e6818acda3452900000a_003":"The studies on heart rate variability (HRV), a key predictor of all-cause mortality, in Marfan syndrome (MS), up to now have not been reported, especially in patients with FBN1 mutations.","589185cc621ea6ff7e00000b_006":"OBJECTIVE: To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).METHODS: Nusinersen was delivered by intrathecal injection to medically stable patients with type 2 and type 3 SMA aged 2-14 years in an open-label phase 1 study and its long-term extension. ","5a8b1264fcd1d6a10c00001d_013":"Fusarium oxysporum f. sp. lycopersici, a vascular pathogen of tomato, ","5ab2cc66fcf4565872000015_002":"Etravirine is an effective and well-tolerated recently approved non-nucleoside reverse transcriptase inhibitor (NNRTI) for HIV type-1-infected patients with previous antiretroviral treatment experience. Considering the importance of combining antiretrovirals for their optimal use in treating HIV, a number of drug-drug interactions with etravirine and other antiretrovirals have been evaluated. Etravirine is a weak inducer of cytochrome P450 (CYP)3A","571e12097de986d80d000017_013":"Oral empagliflozin (Jardiance()), a sodium glucose cotransporter-2 (SGLT2) inhibitor, is a convenient once-daily treatment for adult patients with type 2 diabetes mellitus.","56f564f909dd18d46b000009_004":"Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the \u03b2-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations","58cdb41302b8c60953000042_020":"Ehlers-Danlos syndrome is a complex hereditary connective tissue disorder that is characterized by abnormalities of the skin and joints and visceral and neurological manifestation","55192892622b194345000012_003":"Ubiquitination, endocytosis, and lysosomal degradation of the IFNAR1 (interferon alpha receptor 1) subunit of the type I interferon (IFN) receptor is mediated by the SCFbeta-Trcp (Skp1-Cullin1-F-box protein beta transducin repeat-containing protein) E3 ubiquitin ligase in a phosphorylation-dependent manner.","55242d512c8b63434a000006_012":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent inhibitor of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (8, 9). This led to the development of 3-[2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl]-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (10).","551c23bc6b348bb82c00000b_007":"Mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene are associated with pituitary adenomas that usually occur as familial isolated pituitary adenomas (FIPA).","55200c606b348bb82c000013_006":"The majority of the drugs in development belong to the class of direct factor Xa inhibitors (the -xabans). These include betrixaban, letaxaban, darexaban, eribaxaban, and LY517717.","5880aef4c872c95565000001_004":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope.","5880b073c872c95565000003_028":"With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors.","58d906b28acda3452900000d_006":"The disorder is caused by mutations in the tafazzin (TAZ\/G4.5) gene located on Xq28","5545186cbf90a13052000002_019":"It has been previously shown that disruption of RAD26 in yeast strain W303-1B results in a strain that is deficient in transcription-coupled repair (TCR), the preferential repair of the transcribed strand of an expressed gene over the non-transcribed strand and the rest of the genome.","5a679e8cb750ff4455000006_004":"Critical Appraisal of the Milwaukee Protocol for Rabies: This Failed Approach Should Be Abandoned.","56c1f02cef6e39474100004c_001":"Novel vaccine peptide GV1001 effectively blocks \u03b2-amyloid toxicity by mimicking the extra-telomeric functions of human telomerase reverse transcriptase.","534abe8aaeec6fbd07000013_002":"Conversely, inhibition of HSP90 significantly increased the expression of both VEGF and HGF mRNA, and induced HSP70 protein in PHH cultures in vitro.","56a8ee75a17756b72f000007_001":"Dax1 associates with Esrrb and regulates its function in embryonic stem cells.","56f7c15a09dd18d46b000012_001":"Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).","54d907c84b1fd0d33c000008_007":"Mepolizumab is a monoclonal antibody to interleukin-5, which reduces peripheral blood eosinophils. Previously, we reported that mepolizumab treatment did not result in clinical improvement in AD. ","532f55fed6d3ac6a34000036_015":"Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles","5148691bd24251bc0500002d_008":"Dual-specificity phosphatases (DUSPs) play a very important role in these events by modulating the extent of JNK phosphorylation and activation and thus regulating cellular responses to stress. M3\/6 (DUSP8) is one of the dual-specificity protein phosphatases with distinct specificity towards JNK","5880b073c872c95565000003_038":"Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban).","530f900ee3eabad021000003_009":"Monocarboxylate transporter 8 (MCT8, SLC16A2) is a thyroid hormone (TH) transmembrane transport protein mutated in Allan-Herndon-Dudley syndrome, a severe X-linked psychomotor retardation. ","55242d512c8b63434a000006_011":"Altanserin, a fluorobenzoyl derivative related to ketanserin, was reported to be a potent inhibitor of 5-HT2A receptors with >100-fold selectivity over D2\/3 receptors, 5-HT1A, 5-HT6, and 5-HT7 (8, 9). This led to the development of 3-[2-[4-(4-[(18)F]fluorobenzoyl)-1-piperidyl]ethyl]-2-sulfanyl-3H-quinazolin-4-one ([(18)F]altanserin) as a useful tool for 5-HT2A receptor PET imaging in vivo (10).","5324a8ac9b2d7acc7e000018_047":" identification of the Philadelphia chromosome in cells from individuals with chronic myelogenous leukemia (CML) led to the recognition that the BCR-ABL tyrosine kinase causes CML. This in turn led to the development of imatinib mesylate, a clinically successful inhibitor of the BCR-ABL kinase","5353aedb288f4dae47000006_021":" The key regulatory molecule that triggers silencing is the Xist transcrip","571f5c150fd6f91b68000009_011":"Friedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.","5880b812c872c95565000006_013":"The study demonstrates proof of concept for a dapivirine-releasing diaphragm with daily release quantities potentially capable of preventing HIV transmission.","56c079b1ef6e394741000022_010":"Idarucizumab, an antibody fragment, was developed to reverse the anticoagulant effects of dabigatran.METHODS: We undertook this prospective cohort study to determine the safety of 5 g of intravenous idarucizumab and its capacity to reverse the anticoagulant effects of dabigatran in patients who had serious bleeding (group A) or required an urgent procedure (group B).","5880b073c872c95565000003_011":"Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin.","5ace19420340b9f05800000a_027":"Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow\/blond) hair in the six of eight who continued to have red hair after birth.","55180ef46487737b43000006_013":"The presence of a rash is also a sensitive indicator of gluten ingestion in dermatitis herpetiformis, and this was used to study whether patients with this disease could also tolerate oats. PATIENTS\/METHODS: Eleven patients with dermatitis herpetiformis in remission on a gluten-free diet were challenged daily with 50 g oats for six months.","58cbb98c02b8c60953000034_071":"Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).","550f0e4c6a8cde6b72000003_006":"DUX4, the primary candidate for FSHD pathogenesis, is upregulated over ten-fold in FSHD myoblasts and myotubes with short telomeres, and its expression is inversely proportional to telomere length. FSHD may be the first known human disease in which TPE contributes to age-related phenotype.","58bfd8e902b8c60953000018_003":"Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus. ","572096c90fd6f91b6800000e_013":"Giant Axonal Neuropathy is a pediatric neurodegenerative disorder caused by autosomal recessive mutations in the GAN gene on chromosome 16q24.1. ","5a6e3155b750ff445500003f_003":"Identifying molecular cancer subtypes from multi-omics data is an important step in the personalized medicine. We introduce CancerSubtypes, an R package for identifying cancer subtypes using multi-omics data, including gene expression, miRNA expression and DNA methylation data. CancerSubtypes integrates four main computational methods which are highly cited for cancer subtype identification and provides a standardized framework for data pre-processing, feature selection, and result follow-up analyses, including results computing, biology validation and visualization. The input and output of each step in the framework are packaged in the same data format, making it convenience to compare different methods. The package is useful for inferring cancer subtypes from an input genomic dataset, comparing the predictions from different well-known methods and testing new subtype discovery methods, as shown with different application scenarios in the Supplementary Material.","531464a6e3eabad021000014_007":"McLeod syndrome is caused by mutations in the XK gene whose product is expressed at the red blood cell (RBC) surface but whose function is currently unknown.","5149f494d24251bc0500004c_007":"Patients with presumed opioid overdose can be safely discharged one hour after naloxone administration","58cdb41302b8c60953000042_003":"Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by joint hypermobility, widespread musculoskeletal pain and tissue fragility.","55180ef46487737b43000006_006":"Dermatitis herpetiformis (DH) is an autoimmune blistering skin disorder that is associated with gluten sensitivity. ","571e12097de986d80d000017_018":"Empagliflozin is an orally available, potent and highly selective inhibitor of the sodium glucose cotransporter 2 (SGLT2).","5a690487b750ff445500001f_007":"Sera negative for the markers of both viruses: Hepatitis A (HAV) and Hepatitis B (HBV) were subsequently tested for IGM Heterophil antibodies against Epstein-Barr virus (EBV) by the Monospot slide test to diagnose acute infectious mononucleosis and tested for anti-CMV (IgM) by ELISA technique for the diagnosis of acute Cytomegalovirus (CMV) infection.","5ace238e0340b9f05800000d_001":"The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2.","532f55fed6d3ac6a34000036_011":"mutations in the glucocerebrosidase gene","550e828c71445a662f000002_008":"In contrast, gevokizumab occupies an allosteric site on IL-1\u03b2 and complex formation results in a minor reduction of binding affinity to IL-1RI. This suggests two different mechanisms of IL-1\u03b2 pathway attenuation.","5a896c26fcd1d6a10c000007_013":"Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome that is characterized by pure red-cell aplasia and associated physical deformities.","55421ee7ccca0ce74b000002_028":"The tumor suppressor protein, p53, is often referred to as the guardian of the genome.","56ed03862ac5ed1459000004_002":"The more targeted impact of NEDD8-activating enzyme on protein degradation prompted us to study MLN4924, an investigational NEDD8-activating enzyme inhibitor, in preclinical multiple myeloma models.","55054f8af73303d458000002_007":"Although the primary focus was the compound-specific stable carbon isotope analysis of bone collagen AAs, because of its growing application for palaeodietary and palaeoecological reconstruction, the results are relevant to any field where AA \u03b4(13)C values are required. ","58eb9542eda5a57672000007_003":"Extensive studies have characterized the interaction between coilin and the various other protein components of CBs and related subnuclear domains; however, only a few have examined interactions between coilin and nucleic acid.","56e2acfe51531f7e33000014_002":"Instead, we find that cohesin stability increases at the time of S-phase in a reaction that can be uncoupled from DNA replication.","55242d512c8b63434a000006_010":"Baseline and follow-up partial volume corrected levels of 5-HT2A in four neocortical lobes and the posterior cingulate gyrus were investigated using [18F]altanserin positron emission tomography with a bolus-infusion approach.","5147c8a6d24251bc05000027_015":"The lack of complementation between Krabbe disease patient and twitcher mutant mouse cells provides further evidence that the twitcher mouse is an authentic murine model for Krabbe disease and supports the hypothesis that the mutations in both species are within the structural gene for the galactocerebrosidase enzyme.","589a246078275d0c4a00002a_009":"In the TEMSO and TOWER studies, the 14-mg dose of teriflunomide significantly reduced annualized relapse rate (31% and 36% relative risk reduction compared with placebo, respectively; both P<0.001) and risk of disability progression sustained for 12 weeks (hazard ratio vs placebo 0.70 and 0.69, respectively; both P<0.05).","514a0a57d24251bc05000051_001":"Benzodiazepine (BZD) overdose (OD) continues to cause significant morbidity and mortality in the UK. Flumazenil is an effective antidote but there is a risk of seizures, particularly in those who have co-ingested tricyclic antidepressants.","54ff45966ad7dcbc12000010_001":"Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the gene SPINK5 (serine protease inhibitor Kazal type 5) which encodes for a serine protease inhibitor LEKTI (lymphoepithelial Kazal type-related inhibitor)","5ace12be0340b9f058000007_011":"BACKGROUND Mutations in the human FOXP2 gene cause speech and language impairments.","56c865d25795f9a73e000016_003":"GKT136901, a specific inhibitor of Nox1- and Nox4-containing NADPH oxidase activity, attenuated ROS generation and atherosclerosis and decreased CD44 and HA expression in atherosclerotic lesions","5880a8ec0a76a87357000001_004":"SUMMARY: The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues. It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization of chromosomal abnormalities.AVAILABILITY AND IMPLEMENTATION: CAFE is available from https:\/\/bitbucket.org\/cob87icW6z\/cafe\/ as both source and compiled packages for Linux and Windows.","5ace19420340b9f05800000a_046":"A multiplex PCR and a multiplex single base extension protocol were established for genotyping six exonic MC1R variations highly penetrant for red hair (R), four exonic MC1R variations weakly penetrant for red hair (r), two frameshift variations highly penetrant for red hair (R) and three variations in the promoter region.","5147c8a6d24251bc05000027_005":"Globoid cell leukodystrophy, or Krabbe disease, is a severe disorder of the peripheral and central nervous system myelin caused by deficient galactocerebrosidase (GALC) activity.","587f7a69d8d850a152000001_009":"We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models.","56d1da3b67f0cb3d66000006_003":"Our analysis identified three extended periods in the evolution of gene regulatory elements. ","514a0a57d24251bc05000051_042":"The mean +\/- SD CGIS score at ten minutes for BDZ-positive patients was 1.41 +\/- 0.72 for patients who received flumazenil and 3.41 +\/- 0.91 for the placebo group (P < .01). There was no difference in the mean CGIS score between the flumazenil (3.25 +\/- 1.15) and placebo (3.75 +\/- 0.69) groups in BDZ-negative patients. The GCS and NAS were also significantly better in patients who were BDZ-positive and received flumazenil.","56afe6d40a360a5e45000017_003":" Despite their high resolution and functional significance, published CAGE data are still underused in promoter analysis due to the absence of tools that enable its efficient manipulation and integration with other genome data types. Here we present CAGEr, an R implementation of novel methods for the analysis of differential TSS usage and promoter dynamics, integrated with CAGE data processing and promoterome mining into a first comprehensive CAGE toolbox on a common analysis platform. Crucially, we provide collections of TSSs derived from most published CAGE datasets, as well as direct access to FANTOM5 resource of TSSs for numerous human and mouse cell\/tissue types from within R, greatly increasing the accessibility of precise context-specific TSS data for integrative analyses. The CAGEr package is freely available from Bioconductor at http:\/\/www.bioconductor.org\/packages\/release\/bioc\/html\/CAGEr.html.","588f8e9794c1512c50000005_009":"Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation.","58853922e56acf5176000016_001":"Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis.","56c5fd325795f9a73e000005_001":"The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1)","54f35ad864850a5854000004_006":"TRODUCTION: LY450139 (semagacestat) inhibits gamma-secretase, a key enzyme for generation of amyloid beta (Abeta), the peptide deposited in plaques in Alzheimer disease (AD).","51631154298dcd4e5100004e_016":"Bortezomib, a proteasome inhibitor, has been used for patients with refractory and relapsed multiple myeloma, lymphoma and leukemia.","5506c3e38e1671127b00000a_011":"SEA0400 (1 \u03bcM), a pharmacological inhibitor of NCX, significantly shortened the MAP duration (P < .01) and reduced dispersion (P < .05). ","58a2e5f760087bc10a000007_011":"Whereas approximately 550 proteins were identified in the LB-enriched sample by mass spectrometry, quantitative comparison with the control sample revealed that approximately 40 proteins were co-enriched with alpha-synuclein, the major component in Lewy bodies","5ace238e0340b9f05800000d_016":"Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes.","58cbb98c02b8c60953000034_008":"The disruption of tyrosinase trafficking occurs at the level of the endoplasmic reticulum (ER) in OCA1 and OCA3, but at the post-Golgi level in OCA2. ","58a32efe60087bc10a000013_016":"Rapid detection of Methicillin-Resistant Staphylococcus aureus MRSA in nose, groin, and axilla swabs by the BD GeneOhm MRSA achromopeptidase assay and comparison with culture.","52fa6ac72059c6d71c000055_011":" the transcriptional repressor BACH1 binds ARE-like enhancers","55421ee7ccca0ce74b000002_038":"The p53 gene is involved in genome stability and thus is referred to as \"the guardian of the genome.\" To better understand the antigenotoxic effects of p53 in ultraviolet light B (UVB)-induced mutagenesis, mutations were measured in the epidermis of UVB-irradiated p53(+\/+) and p53(-\/-) gpt delta mice","58e9e7aa3e8b6dc87c00000d_009":"The genome of the fruitfly, Drosophila melanogaster, contains a single gene encoding the enzyme responsible for deamination, termed ADAR (for adenosine deaminase acting on RNA)","587f760792a5b8ad44000005_003":"We developed JAMM (Joint Analysis of NGS replicates via Mixture Model clustering): a peak finder that can integrate information from biological replicates, determine enrichment site widths accurately and resolve neighboring narrow peaks. JAMM is a universal peak finder that is applicable to different types of datasets. We show that JAMM is among the best performing peak finders in terms of site detection accuracy and in terms of accurate determination of enrichment sites widths. In addition, JAMM's replicate integration improves peak spatial resolution, sorting and peak finding accuracy.","58eb9542eda5a57672000007_033":"The Cajal body, originally identified over 100 years ago as a nucleolar accessory body in neurons, has come to be identified with nucleoplasmic structures, often quite tiny, that contain coiled threads of the marker protein, coilin.","56c8f4615795f9a73e00001a_008":"GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species.","5353aedb288f4dae47000006_014":"the X chromosome of paternal origin (Xp) is silenced during early embryogenesis owing to imprinted expression of the regulatory RNA, Xist (X-inactive specific transcript)","58d8e6818acda3452900000a_041":"Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes.","5118dd1305c10fae75000001_008":"A total of 5,161 RA patients (4,082 women and 1,079 men)","55242d512c8b63434a000006_003":"We investigated 94 healthy individuals (60 men, mean age 47.0\u00b118.7, range 23-86) to determine if trait aggression and trait impulsivity were related to frontal cortex 5-HT2A receptor binding (5-HT2AR) as measured with [18F]-altanserin PET imaging. ","58a32efe60087bc10a000013_004":"We investigated the distribution of MRSA (methicillin-resistant Staphylococcus aureus) on and around six patients with MRSA infection in our neurosurgical ward.","5a4e50b242878bf97d000001_004":"Since DNA topoisomerase II (EC 5.99.1.3) is an essential enzyme in yeast, heterologous topoisomerase II gene expression in yeast cells can provide a system for analyzing the structure and function of topoisomerase II genes from other species.","550618f58e1671127b000007_003":"Ser67-phosphorylated inhibitor 1 is a potent protein phosphatase 1 inhibitor.","58cbb98c02b8c60953000034_035":"TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family","5710a592cf1c32585100002a_005":"Transcription initiated from P1 and P2 was activated by both atxA and acpA, and activation appeared to be stimulated by bicarbonate.","5a895f51fcd1d6a10c000004_005":"As recently reported, our data also suggest that chromatin loops preferentially form between CTCF binding sites oriented in a convergent manner.","58bca2f302b8c6095300000c_012":"urner phenotype in this family is the result of deletion of the entire short arm of one X chromosome.","5a761ac3aacfb9cd4c000002_001":"We describe a patient with Doege-Potter syndrome (solitary fibrous tumor of the pleura presenting with hypoglycemia) and illustrate several important lessons learned from the case. ","531464a6e3eabad021000014_033":"The patient's daughters had two populations of red cells, consistent with them being heterozygous for an XK0 allele. The molecular basis of MLS in this family is a novel mutation consisting of a 7453-bp deletion that includes exon 2 of the XK gene. This confirms that the patient's 7-year-old grandson, who is currently asymptomatic, also has the XK0 allele and is therefore likely to develop MLS.","55376663bc4f83e82800000a_001":"half of B-LBL patients are negative for CD45 (leucocyte common antigen, LCA), a widely used marker for the diagnosis of lymphoma, and a significant portion express CD99, a marker for Ewing's sarcoma (ES) or primitive neuroectodermal tumor (PNET)","54f9b74306d9727f76000004_013":"Protective effect of JTV519, a new 1,4-benzothiazepine derivative, on prolonged myocardial preservation","5324a8ac9b2d7acc7e000018_044":"Chronic myeloid leukemia (CML) is a hematopoietic stem cell cancer driven by the BCR-ABL fusion protein that arises from the translocation of chromosomes 9 and 22","5343caffaeec6fbd07000002_002":"selenoprotein P genes encode multiple UGAs and two SECIS elements","58d8e6818acda3452900000a_024":"It is still difficult to use modern genetic testing for diagnosis because Marfan syndrome can be caused by many different mutations in FBN1, a large gene with 65 coding segments, while mutations in other genes can cause overlapping phenotypes","5710a592cf1c32585100002a_010":"This CO2 effect is observed only in the presence of another pXO1 gene, atxA, which encodes a transactivator of anthrax toxin synthesis.","58dcb47c8acda34529000020_002":"To investigate further the role of cytoplasmic sequestration of p53 in its inhibition by the E1B 55-kDa protein we systematically examined domains in both the Ad12 55-kDa protein and p53 that underpin their colocalization in the cytoplasmic body and show that the N-terminal transactivation domain (TAD) of p53 is essential for retaining p53 in the cytoplasmic body.","5177def18ed59a060a000034_002":"Five of the seven duct lesions harbored activating point mutations in codon 12 of K-ras; a G to A transition was found in four and a G to C transversion in one.","5545e65bd355485447000001_001":"Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease primarily affecting motor neurons. Mutations in the gene encoding TDP-43 cause some forms of the disease, and cytoplasmic TDP-43 aggregates accumulate in degenerating neurons of most individuals with ALS. Thus, strategies aimed at targeting the toxicity of cytoplasmic TDP-43 aggregates may be effective","517818508ed59a060a000035_001":"Rett syndrome is caused by mutations in the gene coding for methyl CpG-binding protein 2 (MeCP2).","56afe6d40a360a5e45000017_002":" Despite their high resolution and functional significance, published CAGE data are still underused in promoter analysis due to the absence of tools that enable its efficient manipulation and integration with other genome data types. Here we present CAGEr, an R implementation of novel methods for the analysis of differential TSS usage and promoter dynamics, integrated with CAGE data processing and promoterome mining into a first comprehensive CAGE toolbox on a common analysis platform. Crucially, we provide collections of TSSs derived from most published CAGE datasets, as well as direct access to FANTOM5 resource of TSSs for numerous human and mouse cell\/tissue types from within R, greatly increasing the accessibility of precise context-specific TSS data for integrative analyses. The CAGEr package is freely available from Bioconductor at http:\/\/www.bioconductor.org\/packages\/release\/bioc\/html\/CAGEr.html.","5148691bd24251bc0500002d_007":"Dual-specificity phosphatases (DUSPs) play a very important role in these events by modulating the extent of JNK phosphorylation and activation and thus regulating cellular responses to stress. M3\/6 (DUSP8) is one of the dual-specificity protein phosphatases with distinct specificity towards JNK","587e1bfdfc7e8dd84f000002_002":"Our Genome Browser for DNA shape annotations (GBshape; freely available at http:\/\/rohslab.cmb.usc.edu\/GBshape\/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species","54e0c3e71388e8454a000013_003":"Orteronel inhibits the 17,20 lyase activity of the enzyme CYP17A1, which is important for androgen synthesis in the testes, adrenal glands and prostate cancer cells. ","5ad6e431133db5eb7800000e_006":"A cross-sectional descriptive and analytical study was conducted among 633 TUMS Clinical Laboratory Sciences' Students and Hospitals' Clinical Laboratories' Employees to detect color-blindness problems by Ishihara Test.","5353aedb288f4dae47000006_020":"chromosome inactivation (XCI) depends on a noncoding sense-antisense transcript pair, Xist","56c1f045ef6e394741000058_006":"OBJECTIVE: Selexipag is a novel, oral, selective prostacyclin (PGI2) receptor agonist in clinical development for the treatment of pulmonary arterial hypertension. ","589630f378275d0c4a000007_001":"Over the past decade, MM therapy is significantly improved by the introduction of novel therapeutics such as immunomodulatory agents (thalidomide, lenalidomide, and pomalidomide), proteasome inhibitors (bortezomib, carfilzomib, and ixazomib), monoclonal antibodies (daratumumab and elotuzumab), histone deacetylase (HDAC) inhibitors (Panobinostat).","56c048acef6e39474100001c_031":"Differences between telomerase activity expression levels or telomere length of CSCs and bulk tumor cells in these cell lines did not correlate with the increased sensitivity of CSCs to imetelstat, suggesting a mechanism of action independent of telomere shortening for the effects of imetelstat on the CSC subpopulations. ","58d906b28acda3452900000d_004":"Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane","5544de7a5beec11c10000005_001":"Adaptive (stationary phase) mutagenesis is a phenomenon by which nondividing cells acquire beneficial mutations as a response to stress.","5ace17c30340b9f058000009_003":"The flavor of ethanol was related to variation within an olfactory receptor gene (OR7D4) and a gene encoding a subunit of the epithelial sodium channel (SCNN1D).","56c5feb75795f9a73e000006_002":"The commonest CFTR mutation, deltaF508, is found in 74.1% of all CF chromosomes. In the Caucasian CF population, 57.5% are deltaF508 homozygotes but the UK ISC CF population with only 24.7%, has significantly fewer deltaF508 homozygotes patients (95% confidence interval (CI) 0.2-0.4).","56f961b3cf1c325851000003_001":"Ranasmurfin, a blue protein from a different species of frog, displays a novel structure with a unique chromophoric crosslink.","51387022bee46bd34c000002_001":"Much evidence suggests that CNEs are selectively constrained and not mutational cold-spots, and there is evidence that some CNEs play a role in the regulation of development.","54ff45966ad7dcbc12000010_002":"Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the gene SPINK5 (serine protease inhibitor Kazal type 5) which encodes for a serine protease inhibitor LEKTI (lymphoepithelial Kazal type-related inhibitor)","56bc751eac7ad10019000013_002":"Acrokeratosis paraneoplastic (Bazex syndrome) is a rare, but distinctive paraneoplastic dermatosis characterized by erythematosquamous lesions located at the acral sites and is most commonly associated with carcinomas of the upper aerodigestive tract. ","5324ce779b2d7acc7e00001e_001":"Oral pregabalin, a calcium channel alpha(2)delta-subunit ligand with analgesic, anxiolytic and antiepileptic activity, has shown efficacy in the treatment of fibromyalgia.","53357193d6d3ac6a34000047_001":"Tofacitinib: The First Janus Kinase (JAK) inhibitor for the treatment of rheumatoid arthritis.","5ace238e0340b9f05800000d_017":"By doing so, one is able to provide evidence for the presence of both active and degenerate centromeric satellite profiles on chromosome 2 in these archaic genomes, supporting the hypothesis that the chromosomal fusion event took place prior to our last common ancestor with Denisovan and Neandertal hominins and presenting a genomic reference for predicting karyotype in ancient genomic datasets.<br>","58cbb98c02b8c60953000034_005":"Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.","5a86f074faa1ab7d2e00003a_010":"loss of smarcb1 ini1 expression is considered to be a hallmark for childhood chordomas ccs although mutation loss of 22q has strongly established the loss of smarcb1 ini1 in cancers the cause in ccs remains elusive recent studies suggest role of mirnas in regulation of smarcb1 ini1 expressions we examined 5 reported target predicted mirnas to smarcb1 ini1 in smarcb1 ini1 immunonegative and immunopositive cases and found upregulation of mir 671 5p and mir 193a 5p in smarcb1 ini1 immunonegative cases notably these two mirnas were significantly predicted to target tgf \u03b2 signaling suggestive of dysregulation of developmental and osteoblast regulation pathway in ccs overall we suggest mir 671 5p and mir 193a 5p mediated epigenetic mode of smarcb1 ini1 loss and downregulated tgf \u03b2 pathway in ccs.","55054f8af73303d458000002_009":"A new procedure for extraction of collagen from modern and archaeological bones for 14C dating.","5880b073c872c95565000003_031":"Andexanet Alfa for the Reversal of Factor Xa Inhibitor Activity","5895f18ce370baff39000001_005":"In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors.","5895f18ce370baff39000001_004":" In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of 88.95% sensitivity and 84.16% specificity on a large set of human miRNA genes. The trained classifier is used to identify novel miRNA gene candidates located within cancer-associated genomic regions and rank the resulting predictions using expression information from a full genome tiling array. Finally, four of the top scoring predictions are verified experimentally using northern blot analysis. Our work combines both analytical and experimental techniques to show that SSCprofiler is a highly accurate tool which can be used to identify novel miRNA gene candidates in the human genome. SSCprofiler is freely available as a web service at http:\/\/www.imbb.forth.gr\/SSCprofiler.html.","5a6900ebb750ff445500001d_003":"PURPOSE: Finkelstein's test is the classic diagnostic test for de Quervain's disease. ","5a4e50b242878bf97d000001_003":"Since DNA topoisomerase II (EC 5.99.1.3) is an essential enzyme in yeast, heterologous topoisomerase II gene expression in yeast cells can provide a system for analyzing the structure and function of topoisomerase II genes from other species.","5519113b622b19434500000f_005":"All typical cases result from haploinsufficiency of the ZEB2 (also known as ZFHX1B or SIP-1) gene, with over 100 distinct mutations now described.","53262cdcd6d3ac6a34000003_003":"In high-risk patients , for example, age < 50 years, postpartum, large-gauge needle puncture, epidural blood patch should be performed","5a70d42899e2c3af26000002_004":"ATS is caused by mutations in the SLC2A10 gene, which encodes the facilitative glucose transporter 10 (GLUT10). Approximately 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene.","58e79e703e8b6dc87c00000a_001":"Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients.","5ac725250340b9f058000006_004":"In addition, according to recent studies, circular RNA-7 (ciRS-7) acts as a sponge of miR-7 and thus inhibits its activity. Numerous evidences have confirmed expression of miR-7 is dysregulated in cancer tissues, however, whether ciRS-7 invovled in oncogenesis by acting as sponge of miR-7 remains unclear. Most recently, a study reported ciRS-7 acted as an oncogene in hepatocellular carcinoma through targeting miR-7 expression. This suggest ciRS-7\/ miR-7 axis affects oncogenesis, and it provides a new perspective on the mechanisms of decreased miR-7 expression in cancer tissues. ","5a6f960fb750ff445500005c_009":"appropriateness of diagnosis of streptococcal pharyngitis among thai community pharmacists according to the centor criteria","58f4b9d470f9fc6f0f000016_002":"Tularemia is a zoonosis caused by Francisella tularensis that can be transmitted by several ways to human being and cause different clinical manifestations","52f896d62059c6d71c000046_001":"memory loss","52fa6ac72059c6d71c000055_015":"evidence that BACH1 acts as a transcriptional repressor in the regulation of MARE-dependent genes","5a6a3464b750ff4455000026_001":"MARS: improving multiple circular sequence alignment using refined sequences.","53357193d6d3ac6a34000047_012":"Subsequently, multiple phase 3 studies were carried out, and tofacitinib with or without methotrexate (MTX) is efficacious and has a manageable safety profile in active RA patients who are MTX na\u00efve or show inadequate response to methotrexate (MTX-IR), disease-modifying antirheumatic drugs (DMARD)-IR, or tumor necrosis factor (TNF)-inhibitor-IR.","54cb9c94f693c3b16b000005_019":"SERCA2a activity is regulated by phosphorylation of another SR protein: Phospholamban (PLN). Dephosphorylated PLN inhibits SERCA2a. Phosphorylation of PLN by either cAMP or cGMP-dependent protein kinase at Ser16 or the Ca2+-calmodulin-dependent protein kinase (CaMKII), at Thr17, relieves this inhibition, increasing SR Ca2+ uptake and SR Ca2+ load.","58bc5e2202b8c60953000002_005":"Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10\u00a0% of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.","5ab147edfcf4565872000013_004":"Latent tuberculosis treatment was recommended in all Mantoux-positive contacts.","5519113b622b19434500000f_020":"ZFHX1B mutations cause a complex developmental phenotype characterized by severe mental retardation (MR) and multiple congenital defects","56c85ed65795f9a73e000012_002":"Herein, we show that dasatinib inhibits TCR-mediated signal transduction, cellular proliferation, cytokine production, and in vivo T-cell responses","5881f9b65bf093691f000001_003":"Parasympathetic neurons originate from nerve-associated peripheral glial progenitors","5314bd7ddae131f847000006_007":"A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.","54f35ad864850a5854000004_001":"The outcomes of the clinical trials of the \u03b3-secretase inhibitor Semagacestat (LY-450139) and the \u03b3-secretase modulator (GSM) Tarenflurbil were disappointing, but may not represent the end of the \u03b3-secretase era. ","550ea8f1b305b40c5c000005_001":"One-year safety and tolerability profile of pridopidine in patients with Huntington disease.","5ace238e0340b9f05800000d_006":"It is known that human chromosome 2 originated from the fusion of two ancestral primate chromosomes. ","5ace238e0340b9f05800000d_023":"Our results suggest two possible centromere inactivation models to explain the evolutionarily stabilization of human chromosome 2 over the last 5-6 million years.","5a6e472ab750ff4455000048_001":"Here we show the full domain architecture of human TMEM132 family proteins solved using in-depth sequence and structural analysis. We reveal them to be five previously unappreciated cell adhesion molecules whose domain architecture has an early holozoan origin prior to the emergence of choanoflagellates and metazoa. The extra-cellular portions of TMEM132 proteins contain five conserved domains including three tandem immunoglobulin domains, and a cohesin domain homologue, the first such domain found in animals. These findings strongly predict a cellular adhesion function for TMEM132 family, connecting the extracellular medium with the intracellular actin cytoskeleton.","58b56fe422d3005309000007_002":"The development of the nervous system involves cells remaining within the neural tube (CNS) and a group of cells that delaminate from the dorsal neural tube and migrate extensively throughout the developing embryo called neural crest cells (NCC). These cells are a mesenchymal highly migratory group of cells that give rise to a wide variety of cell derivatives: melanocytes, sensory neurons, bone, Schwann cells, etc. ","58cbb98c02b8c60953000034_069":"Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.","56c1f02aef6e39474100004b_005":"To study the effects of siltuximab on the interleukin-6 (IL-6)\/signal transducer and activator of transcription 3 (Stat3) signaling pathway in ovarian epithelial carcinoma.","58a57f9460087bc10a00001f_006":"All patients with PAX3 mutations had typical phenotype of WS with dystopia canthorum (WS1), whereas patients with MITF gene mutations presented without dystopia canthorum (WS2). ","58a32edd60087bc10a000012_001":"Contrave(\u00ae) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity","58e75d483e8b6dc87c000005_003":"Novel combinatorial interactions of GATA-1, PU.1, and C\/EBPepsilon isoforms regulate transcription of the gene encoding eosinophil granule major basic protein.","58861d413b87a8a738000002_006":"The Davidson Trauma Scale (DTS) was developed as a self-rating for use in diagnosing and measuring symptom severity and treatment outcome in post-traumatic stress disorder (PTSD); 630 subjects were identified by random digit dialing and evaluated for a history of trauma.","571e40a8bb137a4b0c000009_001":"Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3.","57138eb21174fb175500000a_002":"Ataxin-3, the disease protein in the neurodegenerative disorder Spinocerebellar Ataxia Type 3 or Machado Joseph disease, is a cysteine protease implicated in the ubiquitin proteasome pathway","58d8e6818acda3452900000a_011":"Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). ","56c079b1ef6e394741000022_006":"BACKGROUND: Idarucizumab is a monoclonal antibody fragment that binds dabigatran with high affinity in a 1:1 molar ratio. We investigated the safety, tolerability, and efficacy of increasing doses of idarucizumab for the reversal of anticoagulant effects of dabigatran in a two-part phase 1 study (rising-dose assessment and dose-finding, proof-of-concept investigation).","54f5bc7d5f206a0c06000001_001":"Caspases are intracellular proteases that propagate programmed cell death, proliferation, and inflammation. ","56d860ad51531f7e33000002_004":"Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) \/H(+) exchanger 6 (NHE6).","5890e163621ea6ff7e000004_006":"In preclinical studies, tanezumab, and its murine precursor muMab-911, effectively targeted the NGF pathway in various chronic and inflammatory pain models.","56c1f00def6e39474100003f_001":"The VISTA-16 trial of varespladib, a secretory phospholipase A2 (sPLA2) inhibitor, in patients with an acute coronary syndrome was terminated prematurely owing to futility and a signal towards harm.","54edf81f94afd61504000014_002":"We identified an interaction between the FA protein, FANCA and brm-related gene 1 (BRG1) product. BRG1 is a subunit of the SWI\/SNF complex, which remodels chromatin structure through a DNA-dependent ATPase activity","532366f09b2d7acc7e000015_001":"missense mutations and small deletions in the NOTCH3 gene, not involving cysteine residues, have been described in patients considered to be affected by paucisymptomatic CADASIL. However, the significance of such molecular variants is still unclear","571e12097de986d80d000017_006":"Pharmacokinetics, pharmacodynamics and safety of empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, in subjects with renal impairment.","530cefaaad0bf1360c00000d_011":"Thyroid hypoplasia is a frequent characteristic of WBS and abnormalities of thyroid function are common in patients with this feature. Therefore, the possibility of congenital hypothyroidism should always be taken into consideration too and, even if congenital hypothyroidism neonatal screening is negative, thyroid (morphology and function) evaluation should be regularly assessed when the diagnosis is made and, thereafter, every year in the first years of life.","51585b28d24251bc0500008d_012":"We propose a new model that suggests that the maintenance of DNA methylation relies not only on the recognition of hemimethylated DNA by DNA methyltransferase 1 (DNMT1) but also on the localization of the DNMT3A and DNMT3B enzymes to specific chromatin regions that contain methylated DNA.","5a68f005b750ff4455000016_002":"ObjectiveInvestigate influence and change of self-directedness (SD) in Dialectical-Behavior Therapy (DBT) for 26 female outpatients with borderline personality disorder (BPS).","589480b47d9090f353000007_008":"webSDA: a web server to simulate macromolecular diffusional association","5348307daeec6fbd07000011_001":"intensity-based absolute quantification (iBAQ)","5891b125621ea6ff7e00000e_014":"One study examined substrate reduction therapy in people with chronic neuronopathic (type 3) Gaucher disease who continued to receive enzyme replacement therapy.Treatment-na\u00efve participants had similar increases in haemoglobin when comparing those receiving imiglucerase or alglucerase at 60 units\/kg, imiglucerase or velaglucerase alfa at 60 U\/kg, taliglucerase alfa at 30 units\/kg or 60 units\/kg, and velaglucerase alfa at 45 units\/g or 60 units\/kg. For platelet count response in participants with intact spleens, a benefit for imiglucerase over velaglucerase alfa at 60 units\/kg was observed, mean difference -79.87 (95% confidence interval -137.57 to -22.17)","58a57f9460087bc10a00001f_008":"On the basis of these findings, we conclude that sequencing and copy number analysis of both PAX3 and MITF have to be recommended in the routine molecular diagnostic setting for patients, WS1 and WS2. Furthermore, our genotype-phenotype analyses indicate that WS2 and TS correspond to a clinical spectrum that is influenced by MITF mutation type and position.","5717dbfe7de986d80d000001_010":"Functional analysis demonstrated that BNIP1 expression increased dynamin-related protein 1 (Drp1) expression followed by the mitochondrial translocation of Drp1 and subsequent mitochondrial fission.","5a68f448b750ff4455000018_001":"Erythrasma caused by Corynebacterium minutissimum can be confused with superficial mycoses.","58a2e5f760087bc10a000007_015":"Identification of protein interfaces between \u03b1-synuclein, the principal component of Lewy bodies in Parkinson disease, and the molecular chaperones human Hsc70 and the yeast Ssa1p.","588f9950ed9bbee70d000002_010":"Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome. ","5710a592cf1c32585100002a_008":"Transcriptome analysis identifies Bacillus anthracis genes that respond to CO2 through an AtxA-dependent mechanism.","588f9950ed9bbee70d000002_005":"Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome.","533be71dfd9a95ea0d000009_002":"H3K4) in Saccharomyces cerevisiae is implemented by Set1\/COMPASS, which was originally purified based on the similarity of yeast Set1 to human MLL1 and Drosophila melanogaster Trithorax (Trx)","5a7617b183b0d9ea66000022_008":"BACKGROUND Rilotumumab is a fully human monoclonal antibody that selectively targets the ligand of the MET receptor, hepatocyte growth factor (HGF).","5324a8ac9b2d7acc7e000018_035":"The hallmark of CML is an acquired chromosomal translocation known as the Philadelphia chromosome (Ph), which results in the synthesis of the breakpoint cluster region-Abelson murine leukemia (BCR-ABL) fusion oncoprotein, a constitutively active tyrosine kinase. The introduction of imatinib, a tyrosine kinase inhibitor (TKI) that is specific for BCR-ABL, was a major breakthrough in CML therapy","55200c606b348bb82c000013_005":"Apixaban, rivaroxaban, endoxaban, and betrixaban are specific direct inhibitors of factor Xa, while dabigatran inhibits factor IIa.","58b56fe422d3005309000007_004":"Schwann cells, the myelinating glia of the peripheral nervous system (PNS), originate from multipotent neural crest cells that also give rise to other cells, including neurons, melanocytes, chondrocytes, and smooth muscle cells","56ae6e650a360a5e4500000e_005":"We report the development of OikoBase (http:\/\/oikoarrays.biology.uiowa.edu\/Oiko\/), a tiling array-based genome browser resource for Oikopleura dioica, a metazoan belonging to the urochordates, the closest extant group to vertebrates. OikoBase facilitates retrieval and mining of a variety of useful genomics information. First, it includes a genome browser which interrogates 1260 genomic sequence scaffolds and features gene, transcript and CDS annotation tracks. Second, we annotated gene models with gene ontology (GO) terms and InterPro domains which are directly accessible in the browser with links to their entries in the GO (http:\/\/www.geneontology.org\/) and InterPro (http:\/\/www.ebi.ac.uk\/interpro\/) databases, and we provide transcript and peptide links for sequence downloads. Third, we introduce the transcriptomics of a comprehensive set of developmental stages of O. dioica at high resolution and provide downloadable gene expression data for all developmental stages. Fourth, we incorporate a BLAST tool to identify homologs of genes and proteins. Finally, we include a tutorial that describes how to use OikoBase as well as a link to detailed methods, explaining the data generation and analysis pipeline. OikoBase will provide a valuable resource for research in chordate development, genome evolution and plasticity and the molecular ecology of this important marine planktonic organism.","5880aef4c872c95565000001_015":"These mechanisms may also target nonplasma cells that express CD38, which prompted evaluation of daratumumab's effects on CD38-positive immune subpopulations.","552fac4fbc4f83e828000006_002":"Herein, we show that the DNA repair protein and transcriptional cofactor, EYA3, is highly expressed in Ewing sarcoma tumor samples and cell lines compared with mesenchymal stem cells, the presumed cell-of-origin of Ewing sarcoma, and that it is regulated by the EWS\/FLI1 fusion protein transcription factor","5a6e2578b750ff445500003d_003":"To systematically assess changes in DNA looping architecture between samples, we introduce diffloop, an R\/Bioconductor package that provides a suite of functions for the quality control, statistical testing, annotation, and visualization of DNA loops.","55180ef46487737b43000006_019":"The central role of gluten in childhood dermatitis herpetiformis is evidenced by the fact that a gluten free diet helps the damaged jejunal mucosa to recover and controls the rash even in those children who do not have an abnormal jejunal biopsy.","530cefaaad0bf1360c00000d_001":"In the Williams-Beuren syndrome (WBS), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. ","5324a8ac9b2d7acc7e000018_023":"CML is induced by the BCR-ABL oncogene, whose gene product is a BCR-ABL tyrosine kinase. Currently, inhibition of BCR-ABL kinase activity by its kinase inhibitor such as imatinib mesylate (Gleevec)","5a7428090384be9551000001_001":"Materials and Methods This HIPAA-compliant, institutional review board-approved study was performed at a tertiary care, academic medical center ED with approximately 60 000 annual visits and included all patients who were suspected of having pulmonary embolism (PE) and who underwent CT pulmonary angiography between January 1, 2011, and August 31, 2013. The requirement to obtain informed consent was waived. Each CT order for pulmonary angiography was exposed to CDS on the basis of the Wells criteria. ","55032efde9bde69634000035_007":"AIMS: To assess the effect of the calcitonin gene-related peptide (CGRP) receptor antagonist, telcagepant, on the haemodynamic response to sublingual nitroglycerin (NTG). ","571e12097de986d80d000017_014":"Empagliflozin is a selective sodium glucose cotransporter 2 (SGLT2) inhibitor that inhibits renal glucose reabsorption and is being investigated for the treatment of type 2 diabetes mellitus (T2DM).","554356d0ed966d112c000005_002":"The average absolute dinucleotide relative abundance difference, termed delta-distance, has been commonly used to measure differences in dinucleotide composition, or 'genomic signature', between bacterial chromosomes and plasmids.","5540ca8a0083d1bf0e000003_012":"In all animals, 20-40% of the newly generated cells in the dentate gyrus and subventricular zone expressed the neural progenitor cell markers Musashi1 or Nestin","54cb9c94f693c3b16b000005_012":"Phospholamban (PLB) is a major target of the beta-adrenergic cascade in the heart, and functions as an endogenous inhibitor of Ca-ATPase transport activity.","5a871a6861bb38fb24000009_003":"Patients with non-small cell lung cancer (NSCLC) who harbor anaplastic lymphoma kinase (ALK) gene rearrangements can derive significant clinical benefit from ALK tyrosine kinase inhibitor.","5880dba9c872c95565000009_009":"Clinical Development of the CDK4\/6 Inhibitors Ribociclib and Abemaciclib in Breast Cancer.","56b710f276d8bf8d13000003_010":"Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. ","51631154298dcd4e5100004e_011":"efficacy and safety of bortezomib (BOR) for treatment of multiple myeloma in comparison with thalidomide (THAL) by reference to adverse events, and searched for laboratory markers that could be used for prognostication of patients.","55475dc2f35db75526000001_004":"Clostridium botulinum is the etiological agent of botulism. Due to food-borne poisoning and the potential use of the extremely toxic botulinum neurotoxin (BoNT) from C. botulinum","55200c606b348bb82c000013_010":"Novel oral anticoagulant drugs, the direct thrombin antagonist dabigatran and factor Xa inhibitors such as rivaroxaban, apixaban, edoxaban, and betrixaban are more predictable and convenient anticoagulants in comparison with warfarin, mainly because of the non-requirement of regular laboratory monitoring and dose adjustments.","5a68f005b750ff4455000016_005":"Pain-mediated affect regulation is reduced after dialectical behavior therapy in borderline personality disorder: a longitudinal fMRI study.","5891c90949702f2e01000001_008":"INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes.","58ee0dd5eda5a57672000013_002":"Leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode.","51585b28d24251bc0500008d_005":"Contributions of CTCF and DNA methyltransferases DNMT1 and DNMT3B to Epstein-Barr virus restricted latency.","58a6db8660087bc10a00002c_007":"In Saccharomyces cerevisiae, chromatin deposition of histone H2AZ is mediated by the fourteen-subunit SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ.","5a9acd921d1251d03b000016_001":"Ongoing Phase III clinical trials via passive immunotherapy against A\u03b2 peptides (crenezumab, gantenerumab, and aducanumab) seem to be promising. ","550739cf3b8a5dc045000002_001":"The most canonical AAUAAA hexamer ","5147c8a6d24251bc05000027_001":"Krabbe disease is a lethal, demyelinating condition caused by genetic deficiency of galactocerebrosidase (GALC) and resultant accumulation of its cytotoxic substrate, psychosine (galactosylsphingosine), primarily in oligodendrocytes (OLs).","587e0116ae05ffb474000002_005":" CisMapper also predicts which TF binding sites regulate a given gene more accurately than using genomic distance. Unlike distance-based methods, CisMapper can predict which transcription start site of a gene is regulated by a particular binding site of the TF","52bf1b0a03868f1b06000009_011":"The autosomal recessive mode of inheritance strongly suggests that mutation of a single gene causes the impairment of both caeruloplasmin synthesis and biliary copper excretion.","589a247078275d0c4a000035_013":"This article summarizes the milestones in the development of dinutuximab leading to this first approval for use (in combination with granulocyte macrophage colony-stimulating factor, interleukin-2 and 13-cis retinoic acid) in the treatment of paediatric patients with high-risk neuroblastoma who achieve at least partial response to prior first-line multiagent, multimodality therapy.<br>","53440d2caeec6fbd07000004_002":"metastasis-associated lung adenocarcinoma transcript (MALAT)-1 is known to be consistently upregulated in several epithelial malignancies","5880aef4c872c95565000001_003":"Furthermore, daratumumab, and probably also other CD38-targeting antibodies, interfere with blood compatibility testing and thereby complicate the safe release of blood products. Neutralization of the therapeutic CD38 antibody or CD38 denaturation on reagent red blood cells mitigates daratumumab interference with transfusion laboratory serologic tests. ","533ea8fcc45e133714000010_017":"Analyses of eukaryotic selenocysteine insertion sequence (SECIS) elements via computer folding programs, mutagenesis studies, and chemical and enzymatic probing has led to the derivation of a predicted consensus structural model for these elements. This model consists of a stem-loop or hairpin","5506c3e38e1671127b00000a_005":"Concerning the role of NCX in NO cytotoxicity, we have found, using the specific inhibitor of NCX 2-[4-[(2,5-difluorophenyl)methoxy]phenoxy]-5-ethoxyaniline (SEA0400), that NCX is involved in NO-induced cytotoxicity in cultured microglia, astrocytes, and neuronal cells.","5891c90949702f2e01000001_007":"INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes","58a32efe60087bc10a000013_029":"Comparison of MRSASelect Agar, CHROMagar Methicillin-Resistant Staphylococcus aureus (MRSA) Medium, and Xpert MRSA PCR for detection of MRSA in Nares: diagnostic accuracy for surveillance samples with various bacterial densities.","5314bd7ddae131f847000006_010":"Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene.","5545186cbf90a13052000002_005":"Transcription coupled repair (TCR) is a nucleotide excision repair (NER) pathway that is dedicated to repair in the transcribed strand of an active gene.","55180ef46487737b43000006_018":"Serum IgA class antigliadin antibodies (IgA-AGA) are increased in untreated patients with coeliac disease and dermatitis herpetiformis (DH), and it has been suggested that salivary IgA-AGA measurements could be used as a non-invasive screening test for gluten-sensitive enteropathy. ","54fc91e96ad7dcbc12000001_003":"The recent report of positive results from a Phase IIa clinical trial of PBT2, a novel drug that targets amyloid-beta-metal interactions, underscores the value of abnormal transition metal metabolism as a potential therapeutic target in Alzheimer's disease.","56bdc79bef6e394741000001_004":"CONCLUSIONS: The Athens Protocol to arrest keratectasia progression and improve corneal regularity demonstrates safe and effective results as a keratoconus management option. ","56c048acef6e39474100001c_034":"Telomerase is reactivated in tumor cells, including CSCs, but has limited activity in normal tissues, providing potential for telomerase inhibition in anti-cancer therapy. ","58b6978822d300530900000a_003":"In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation.","550c3754a103b78016000007_001":"Parkinson's disease (PD) is one of the most common degenerative disorders of the central nervous system that produces motor and non-motor symptoms. The majority of cases are idiopathic and characterized by the presence of Lewy bodies containing fibrillar \u03b1-synuclein","5a6f853ab750ff4455000055_006":"Probe-to-bone test for diagnosing diabetic foot osteomyelitis: reliable or relic?","5a7617b183b0d9ea66000022_003":"Furthermore, negative study data have been published for rilotumumab and ficlatuzumab, both of which block hepatocyte growth factor binding to the mesenchymal-epithelial transition (MET) receptor. ","5880b073c872c95565000003_049":"Currently, two potential reversal agents for oral direct factor Xa inhibitors (andexanet alfa and ciraparantag) are at various stages of clinical development.","5324bdba9b2d7acc7e00001a_011":"The measurement of a mean bladder wall thickness greater than 5 mm with transvaginal ultrasound ","54cb9c94f693c3b16b000005_004":"SERCA2a activity can be regulated at multiple levels of a signaling cascade comprised of phospholamban","532dcfc9d6d3ac6a34000021_011":"SET domain protein functions as a histone methyltransferase","58cbb98c02b8c60953000034_011":"Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). ","58a57f9460087bc10a00001f_011":"Mutations in microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome type 2 (WS2), a dominantly inherited disorder involving hearing loss and pigment disturbances caused by a lack of melanocytes. On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. ","56c8f4615795f9a73e00001a_011":"Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution.","514a0a57d24251bc05000051_005":"Flumazenil is a benzodiazepine antagonist. It is widely used as an antidote in comatose patients suspected of having ingested a benzodiazepine overdose.","5547a01cf35db75526000005_007":"Microsporidia are a large diverse group of intracellular parasites now considered as fungi.","58a57f9460087bc10a00001f_027":"For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997).","55180ef46487737b43000006_004":"Dermatitis herpetiformis and coeliac disease are gluten-sensitive diseases that share immunopathological mechanisms.","5880aef4c872c95565000001_005":"This article focuses on the basic and clinical aspects of several emerging and promising novel MoAbs for MM, such as elotuzumab which targets CS1 and daratumumab which targets CD38.","55032efde9bde69634000035_013":"METHODS: This study evaluated the calcitonin gene-related peptide (CGRP) receptor antagonist telcagepant (tablet formulation) for treatment of a migraine attack and across four attacks.","530cefaaad0bf1360c000012_017":"Restless leg syndrome (RLS) and periodic limb movement disorder (PLMD) are considered to be a continuum of a neurological sleep disorder associated with abnormal iron metabolism or deficiency. I describe a case of RLS and PLMD in a cystic fibrosis patient with iron deficiency from chronic hemoptysis. This is the first case that reports RLS and PLMD manifesting from iron deficiency caused by chronic hemoptysis in advanced cystic fibrosis lung disease.","588f8e9794c1512c50000005_002":" Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation.","5ace19420340b9f05800000a_048":"We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and an additional 99 unrelated redheads, for MC1R variants and have confirmed that red hair is usually inherited as a recessive characteristic with the R151C, R160W, D294H, R142H, 86insA and 537insC alleles at this locus.","58eb9542eda5a57672000007_019":"Coilin is another nuclear SMN binding partner and a marker protein for Cajal bodies (CBs)","550f0e4c6a8cde6b72000003_007":"DUX4, the primary candidate for FSHD pathogenesis, is upregulated over ten-fold in FSHD myoblasts and myotubes with short telomeres, and its expression is inversely proportional to telomere length. FSHD may be the first known human disease in which TPE contributes to age-related phenotype.","56c048acef6e39474100001c_032":"BACKGROUND: Imetelstat, a 13-mer oligonucleotide that is covalently modified with lipid extensions, competitively inhibits telomerase enzymatic activity. ","550e828c71445a662f000002_006":"Gevokizumab is claimed to be a regulatory therapeutic antibody that modulates IL-1\u03b2 bioactivity by reducing the affinity for its IL-1RI:IL-1RAcP signaling complex. How IL-1\u03b2 signaling is affected by both canakinumab and gevokizumab was not yet experimentally determined. We have analyzed the crystal structures of canakinumab and gevokizumab antibody binding fragment (Fab) as well as of their binary complexes with IL-1\u03b2. ","54f9b74306d9727f76000004_016":"Protective effect of JTV519, a new 1,4-benzothiazepine derivative, on prolonged myocardial preservation.","52ece29f98d023950500002c_001":"Hemizygous MCT8 mutations in males cause severe psychomotor retardation, known as the Allan-Herndon-Dudley syndrome (AHDS), and abnormal serum TH levels. AHDS thus represents a type of TH resistance caused by a defect in cellular TH transport.","56c1d857ef6e394741000033_001":"PURPOSE: Opicapone (OPC) is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease. ","587e1a01fc7e8dd84f000001_005":"RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. ","5880b073c872c95565000003_012":"Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin.","58f4b9d470f9fc6f0f000016_001":"Francisella tularensis, the agent of tularemia, is a Gram-negative coccobacillus primarily pathogen for animals and occasionally for humans. ","530cefaaad0bf1360c000012_009":"The authors propose that PPIs, such as omeprazole, may interfere with iron absorption in certain patients and that a subpopulation of patients who develop significant iron deficiency characterized by low serum ferritin levels while on PPIs may also develop RLS-like symptoms (including RLSAP).","5895f7e978275d0c4a000001_009":"Hypoglycin A, the toxin found in the ackee fruit, has been reported in the literature as the causative agent in incidences of acute toxicity termed Jamaican vomiting sickness or toxic hypoglycemic syndrome","5a8b1264fcd1d6a10c00001d_008":"Fusarium oxysporum f. sp. lycopersici is the causal agent of Fusarium wilt disease in tomato. 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