{"question":{"58a57f9460087bc10a00001f_030":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","514a0a57d24251bc05000051_012":"Which drug should be used as an antidote in benzodiazepine overdose?","5a74e9ad0384be955100000a_002":"What is a SERM?","51585b28d24251bc0500008d_011":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","51585b28d24251bc0500008d_008":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5ac0a82d19833b0d7b000003_001":"In what percentage of skeletal muscle fibers is dystrophin expression restored after PPMO- mediated exon skipping?","56bc77a3ac7ad10019000015_006":"RTS S AS01 vaccine was developed to prevent which disease?","5a6f960fb750ff445500005c_011":"Centor criteria are used for which disease?","58a57f9460087bc10a00001f_004":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","5a8980d2fcd1d6a10c00000d_002":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","54df695b1388e8454a000004_016":"What is the synonym of the lubag disease?","550af222c2af5d5b7000000b_001":"Which is the E3 ubiquitin ligase which ubiquitinates IkB leading to its proteasomal degradation?","5710e131a5ed216440000001_002":"In which yeast chromosome does the rDNA cluster reside?","58f3ca5c70f9fc6f0f00000d_003":"The pathogen Fusarium graminearum affects what type of plant species?","58a32efe60087bc10a000013_056":"What is MRSA?","58a32efe60087bc10a000013_015":"What is MRSA?","56b1f4300a360a5e4500001b_004":"Which peptide plays a pivotal role in human cystatin C fibrillization?","58861d413b87a8a738000002_004":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","52f89fc62059c6d71c000050_006":"From which tissue was the NCI-H520 cell-line derived?","5880dba9c872c95565000009_008":"Which enzyme is inhibited by ribociclib?","54e0c3e71388e8454a000013_014":"Which enzyme is inhibited by Orteronel?","55200c606b348bb82c000013_007":"Which clotting factor is inhibited by betrixaban?","5321bc309b2d7acc7e00000d_001":"What is the target protein of the drug Idelalisib?","5880b073c872c95565000003_007":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","54e1bdacae9738404b000009_005":"What is generic name of drug Adempas?","54f89e1a06d9727f76000001_002":"Which kinase is inhibited by the small molecule KN-93?","56bb68f9ac7ad1001900000b_005":"What is the cause of Phthiriasis Palpebrarum?","5a79d0b8faa1ab7d2e00000d_013":"What cellular process are okazaki fragments associated with?","5a6f853ab750ff4455000055_005":"Which disease can be diagnosed with the \"probe to bone\" test?","571f5c150fd6f91b68000009_003":"Which protein is found to be mutated in Friedreich's ataxia?","5a7237672dc08e987e000008_001":"Which drug can be reversed with idarucizumab?","56c8274f5795f9a73e00000d_001":"Which type of cells is affected in Amyotrophic Lateral Sclerosis?","551c23bc6b348bb82c00000b_005":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","5884c72fe56acf517600000f_005":"What molecule is targeted by Avelumab?","58af1cb3717cd3f655000003_002":"Which is the main abnormality that arises with Sox9 locus duplication?","5a68f005b750ff4455000016_006":"Which personality disorder is treated using dialectical behavior therapy?","589635dd78275d0c4a000009_005":"Which tool is used for the identification of recurrent variants in noncoding regions?","531464a6e3eabad021000014_019":"Mutation of which gene is associated with McLeod syndrome?","5a679e8cb750ff4455000006_003":"Milwaukee protocol was tested for treatment of which disease?","5506c3e38e1671127b00000a_034":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5149f494d24251bc0500004c_001":"Which medication should be administered when managing patients with suspected acute opioid overdose?","530cefaaad0bf1360c00000d_003":"Which hormone abnormalities are common in Williams syndrome ?","58f89eb270f9fc6f0f00001a_001":"What is the genetic basis of Ohdo syndrome?","511a3573df1ebcce7d000018_005":"How many tissue kallikrein genes are present in the human genome?","58e9e7aa3e8b6dc87c00000d_011":"Which is the major RNA editing enzyme in Drosophila melanogaster?","58a2e5f760087bc10a000007_014":"Which is the primary protein component of Lewy bodies?","5506c3e38e1671127b00000a_037":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","55032e65e9bde69634000034_008":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5ace37d50340b9f058000011_005":"Which is the main reason for the increase in the incidence of cryptococcal disease?","58e3d9ab3e8b6dc87c000002_001":"Angelman syndrome is associated with deletion of a part of Chromosome 15 but if the deletion occurs in the paternally inherited chromosome 15, what is the disease?","56c8f4615795f9a73e00001a_001":"Which genome browser database for DNA shape annotations is available?","56bdc79bef6e394741000001_002":"Which eye condition is managed by the athens protocol?","56c1f020ef6e394741000047_012":"Which disorder is rated by Palmini classification?","588f8e9794c1512c50000005_001":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","55475dc2f35db75526000001_009":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","514a0a57d24251bc05000051_041":"Which drug should be used as an antidote in benzodiazepine overdose?","54cf45e7f693c3b16b00000a_003":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","58dcb47c8acda34529000020_001":"What is the role of TAD protein domain?","55421ee7ccca0ce74b000002_001":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5506c3e38e1671127b00000a_008":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","550f0e4c6a8cde6b72000003_003":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","57136a7e1174fb1755000006_002":"How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus?","51405cd123fec90375000005_002":"Which is the defective protein causing the lysosomal storage disease Fabry?","531464a6e3eabad021000014_062":"Mutation of which gene is associated with McLeod syndrome?","5886519c3b87a8a738000007_001":"Which disease can be categorized using the Koos grading system?","54cf45e7f693c3b16b00000a_004":"Which is the main calcium binding protein of the sarcoplasmic reticulum?","587f7a69d8d850a152000001_010":"Which library is used for fixed-length approximate string matching?","5353aedb288f4dae47000006_013":"Which is the transcript responsible for X-chromosome inactivation?","56c1f00cef6e39474100003e_003":"Aleglitazar is agonist of which receptor?","51585b28d24251bc0500008d_006":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5710a592cf1c32585100002a_013":"Which metabolite activates AtxA?","5a7877c0faa1ab7d2e00000c_005":"What is the first line treatment for sarcoidosis?","52fa6ac72059c6d71c000055_002":"Is the transcriptional regulator BACH1 an activator or a repressor?","5547a01cf35db75526000005_001":"In which kingdom do microsporidia belong, according to their current classification scheme?","56d1f790f22319765a000001_003":"Which gene harbors the mutation T790M?","53318685d6d3ac6a3400003d_001":"What is the mode of inheritance of Acromicric dysplasia?","5118dd1305c10fae75000001_002":"Is Rheumatoid Arthritis more common in men or women?","5ace238e0340b9f05800000d_014":"Which human chromosome is the product of fusion?","5717dbfe7de986d80d000001_015":"What is the functional role of the protein Drp1?","530cf4e0c8a0b4a00c000006_003":"Which is the most common cause of sudden cardiac death in young athletes?","531464a6e3eabad021000014_034":"Mutation of which gene is associated with McLeod syndrome?","5319ac99b166e2b806000034_003":"Which is the third subunit of the TSC1-TSC2 complex upstream of mTORC1?","514a0a57d24251bc05000051_021":"Which drug should be used as an antidote in benzodiazepine overdose?","5509c52f1180f13250000004_001":"What is hyperosmia","5325fdf0600967d132000001_003":"What is the gold standard treatment for Iatrogenic male incontinence?","5343fc1aaeec6fbd07000003_024":"Which is the gene mutated in type 1 neurofibromatosis?","51585b28d24251bc0500008d_001":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5ab90a79fcf456587200001b_001":"What drug treatment can cause a spinal epidural hematoma?","54e0d1491388e8454a000014_006":"Which enzyme is targeted by Evolocumab?","5ace238e0340b9f05800000d_019":"Which human chromosome is the product of fusion?","5324a8ac9b2d7acc7e000018_010":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","530cefaaad0bf1360c00000d_015":"Which hormone abnormalities are common in Williams syndrome ?","55200c606b348bb82c000013_013":"Which clotting factor is inhibited by betrixaban?","54df695b1388e8454a000004_005":"What is the synonym of the lubag disease?","56ed03862ac5ed1459000004_010":"Which enzyme does MLN4924 inhibit?","55032e65e9bde69634000034_001":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","55421ee7ccca0ce74b000002_037":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5880b073c872c95565000003_004":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","56d1f790f22319765a000001_010":"Which gene harbors the mutation T790M?","55421ee7ccca0ce74b000002_033":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","58b56fe422d3005309000007_007":"Where do the Schwann cells and melanocytes originate from?","56c048acef6e39474100001c_006":"Which enzyme is inhibited by Imetelstat?","531464a6e3eabad021000014_039":"Mutation of which gene is associated with McLeod syndrome?","5a6f853ab750ff4455000055_001":"Which disease can be diagnosed with the \"probe to bone\" test?","56c1f020ef6e394741000047_025":"Which disorder is rated by Palmini classification?","571f609c0fd6f91b6800000c_001":"Which enzyme deficiency can cause GM1 gangliosidoses?","55032e65e9bde69634000034_017":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","55032e65e9bde69634000034_011":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","5717dbfe7de986d80d000001_008":"What is the functional role of the protein Drp1?","58b56fe422d3005309000007_003":"Where do the Schwann cells and melanocytes originate from?","5324a8ac9b2d7acc7e000018_052":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5a4df811966455904c00000e_002":"Which RNA polymerase II subunit carries RNA cleavage activity?","5149f494d24251bc0500004c_014":"Which medication should be administered when managing patients with suspected acute opioid overdose?","571e12097de986d80d000017_005":"Which protein does empagliflozin inhibit?","5a690487b750ff445500001f_002":"Which virus can be diagnosed with the monospot test?","56ecfd572ac5ed1459000002_008":"How is oprozomib administered?","571e12097de986d80d000017_017":"Which protein does empagliflozin inhibit?","571f5c150fd6f91b68000009_007":"Which protein is found to be mutated in Friedreich's ataxia?","514a0a57d24251bc05000051_029":"Which drug should be used as an antidote in benzodiazepine overdose?","58b56fe422d3005309000007_008":"Where do the Schwann cells and melanocytes originate from?","5a690487b750ff445500001f_004":"Which virus can be diagnosed with the monospot test?","55200c606b348bb82c000013_018":"Which clotting factor is inhibited by betrixaban?","58adc1ff9ef3c34033000006_001":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","54db62a3034aea571d000001_006":"Which is the main calcium pump of the sarcoplasmic reticulum?","58d8e6818acda3452900000a_027":"Which gene mutations cause the Marfan syndrome?","589a246078275d0c4a00002a_022":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","54f89e1a06d9727f76000001_001":"Which kinase is inhibited by the small molecule KN-93?","571f5e740fd6f91b6800000b_002":"Which enzyme is deficient in Gaucher's disease?","5895f18ce370baff39000001_001":"Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions?","5710a592cf1c32585100002a_004":"Which metabolite activates AtxA?","56cafa845795f9a73e00002e_001":"Which protein pathway is regulating SGK1-mediated phosphorylation of FOXO3a to control cell proliferation?","5149f494d24251bc0500004c_010":"Which medication should be administered when managing patients with suspected acute opioid overdose?","514a51c2d24251bc0500005c_001":"Which pituitary adenoma is common cause of infertility is women?","536e46f27d100faa09000012_005":"Which is the gene most commonly mutated in Tay-Sachs disease?","58861d413b87a8a738000002_012":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","530cefaaad0bf1360c000012_014":"Which deficiency is the cause of restless leg syndrome?","5ace37d50340b9f058000011_011":"Which is the main reason for the increase in the incidence of cryptococcal disease?","550342a8f8aee20f27000002_005":"Which is the major symptom of the Doose syndrome?","589317e849702f2e01000005_004":"Which server is used for generating modes of pseudo components of DNA, RNA and protein sequences?","58cbb98c02b8c60953000034_038":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","530cf4c54a5037880c000008_016":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","55242d512c8b63434a000006_018":"Which receptors can be evaluated with the [18F]altanserin?","5895bc397d9090f35300000b_019":"Mutation of which gene is implicated in the Christianson syndrome?","56c1f020ef6e394741000047_009":"Which disorder is rated by Palmini classification?","55421ee7ccca0ce74b000002_018":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5880e417713cbdfd3d000001_001":"Which disease is treated with ZMapp?","589635dd78275d0c4a000009_002":"Which tool is used for the identification of recurrent variants in noncoding regions?","5a68f448b750ff4455000018_013":"Which bacteria causes erythrasma?","5891c90949702f2e01000001_013":"Which tool employs self organizing maps for analyzing synonymous codon usage?","5a896c26fcd1d6a10c000007_016":"In which syndrome is the RPS19 gene most frequently mutated?","56c8f4615795f9a73e00001a_006":"Which genome browser database for DNA shape annotations is available?","550f0e4c6a8cde6b72000003_043":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58c9a8fe02b8c6095300002a_003":"What alternate indication has Vanoxerine been repositioned for?","531464a6e3eabad021000014_057":"Mutation of which gene is associated with McLeod syndrome?","5a68f448b750ff4455000018_012":"Which bacteria causes erythrasma?","5a9da59c4e03427e73000005_001":"What is PNPPP?","530cf4c54a5037880c000008_012":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","52fe58f82059c6d71c00007a_008":"Do archaeal genomes contain one or multiple origins of replication?","56d1f790f22319765a000001_001":"Which gene harbors the mutation T790M?","52bf1f1303868f1b06000014_005":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","5ab2cc66fcf4565872000015_001":"Cytochrome p450 CYP3A is induced by rifampicin  and compounds used to treat what virus?","5891f9e549702f2e01000002_009":"Willis-Ekbom disease is also known as?","5880aef4c872c95565000001_027":"What is the target of daratumumab?","54ede28094afd61504000003_002":"What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations?","530f900ee3eabad021000003_010":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","58eb9542eda5a57672000007_022":"Which protein is the main marker of Cajal bodies?","56c8f4615795f9a73e00001a_010":"Which genome browser database for DNA shape annotations is available?","55200c606b348bb82c000013_021":"Which clotting factor is inhibited by betrixaban?","55421ee7ccca0ce74b000002_021":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5a6f960fb750ff445500005c_007":"Centor criteria are used for which disease?","587e1bfdfc7e8dd84f000002_006":"Which is the genome browser database for DNA shape annotations?","5353aedb288f4dae47000006_028":"Which is the transcript responsible for X-chromosome inactivation?","52bf1f1303868f1b06000014_002":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","56cdf3e55795f9a73e00003c_002":"Which type of GTPases is required for amino acid-dependent activation of mTORC1?","58d8e6818acda3452900000a_038":"Which gene mutations cause the Marfan syndrome?","589a247078275d0c4a000035_026":"Dinutuximab is used for treatment of which disease?","5a68f005b750ff4455000016_018":"Which personality disorder is treated using dialectical behavior therapy?","5a79d0b8faa1ab7d2e00000d_011":"What cellular process are okazaki fragments associated with?","56c1f01def6e394741000045_010":"Orteronel was developed for treatment of which cancer?","5545186cbf90a13052000002_020":"Which gene strand is targeted by transcription-coupled repair (TCR)?","5a761ac3aacfb9cd4c000002_003":"What is the most common feature of the Doege\u2013Potter syndrome?","55032efde9bde69634000035_015":"Which receptor is targeted by telcagepant?","589a246078275d0c4a00002a_024":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","589d965a78275d0c4a000049_020":"Which polymerase transcribes pri-miRNAs?","53357193d6d3ac6a34000047_008":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","56c1d856ef6e394741000032_003":"Which pathway is activated by ficolin-3?","56ed03862ac5ed1459000004_014":"Which enzyme does MLN4924 inhibit?","571e14fbbb137a4b0c000001_012":"For which type of diabetes can empagliflozin be used?","58e9e7aa3e8b6dc87c00000d_007":"Which is the major RNA editing enzyme in Drosophila melanogaster?","531464a6e3eabad021000014_048":"Mutation of which gene is associated with McLeod syndrome?","552fac4fbc4f83e828000006_008":"Which fusion protein is involved in the development of Ewing sarcoma?","589185cc621ea6ff7e00000b_022":"Which disease is treated with Nusinersen?","54f9b74306d9727f76000004_008":"The drug JTV519 is derivative of which group of chemical compounds?","52fa6ac72059c6d71c000055_022":"Is the transcriptional regulator BACH1 an activator or a repressor?","54edf81f94afd61504000014_005":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","52bf1b0a03868f1b06000009_010":"What is the mode of inheritance of Wilson's disease?","5ace37d50340b9f058000011_013":"Which is the main reason for the increase in the incidence of cryptococcal disease?","55200c606b348bb82c000013_011":"Which clotting factor is inhibited by betrixaban?","56c1f01def6e394741000045_001":"Orteronel was developed for treatment of which cancer?","5abbe429fcf456587200001c_005":"What is the drug target for Eliquis (Apixaban)?","54f9b74306d9727f76000004_011":"The drug JTV519 is derivative of which group of chemical compounds?","55180ef46487737b43000006_023":"What is the typical rash associated with gluten ?","5880b073c872c95565000003_045":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5880b073c872c95565000003_015":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5710e131a5ed216440000001_009":"In which yeast chromosome does the rDNA cluster reside?","56cdf40d5795f9a73e00003d_002":"Which transcription factor is considered as a master regulator of lysosomal genes?","54e0c3e71388e8454a000013_016":"Which enzyme is inhibited by Orteronel?","58a2e5f760087bc10a000007_007":"Which is the primary protein component of Lewy bodies?","5343fc1aaeec6fbd07000003_030":"Which is the gene mutated in type 1 neurofibromatosis?","5ace12be0340b9f058000007_007":"Which gene is responsible for proper speech development?","5717d64f29809bbe7a000001_001":"Which is the cellular localization of the protein Opa1?","55054f8af73303d458000002_015":"Which bone protein is used in archaelogy for dating and species identification?","5ace19420340b9f05800000a_015":"Which gene is responsible for red hair?","56c04412ef6e39474100001b_013":"Which molecule is targeted by Daratumumab?","589d965a78275d0c4a000049_010":"Which polymerase transcribes pri-miRNAs?","56bc77a3ac7ad10019000015_026":"RTS S AS01 vaccine was developed to prevent which disease?","5a79d0b8faa1ab7d2e00000d_009":"What cellular process are okazaki fragments associated with?","530cefaaad0bf1360c00000d_010":"Which hormone abnormalities are common in Williams syndrome ?","56bc77a3ac7ad10019000015_002":"RTS S AS01 vaccine was developed to prevent which disease?","531464a6e3eabad021000014_046":"Mutation of which gene is associated with McLeod syndrome?","531464a6e3eabad021000014_026":"Mutation of which gene is associated with McLeod syndrome?","5895f7e978275d0c4a000001_008":"What fruit causes Jamaican vomiting sickness?","56cdf5315795f9a73e000046_001":"Which is the enzyme that degrades decapped mRNAs?","531464a6e3eabad021000014_050":"Mutation of which gene is associated with McLeod syndrome?","55203ae78e534a4535000001_003":"In which condition was protein S100A7 originally identified?","530cefaaad0bf1360c00000d_020":"Which hormone abnormalities are common in Williams syndrome ?","5343fc1aaeec6fbd07000003_037":"Which is the gene mutated in type 1 neurofibromatosis?","514a0a57d24251bc05000051_013":"Which drug should be used as an antidote in benzodiazepine overdose?","56e2acfe51531f7e33000014_001":"During which stage of the cell cycle is cohesin deposited on the yeast genome?","5519113b622b19434500000f_002":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5ac725250340b9f058000006_006":"Which miRNA is associated with the circular RNA ciRS-7?","533ea8fcc45e133714000010_018":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","51651e24298dcd4e51000054_001":"How many genera comprise the Flaviviridae family?","5118dd1305c10fae75000001_005":"Is Rheumatoid Arthritis more common in men or women?","550ea8f1b305b40c5c000005_008":"Pridopidine has been tested for treatment of which disorder?","58e9e7aa3e8b6dc87c00000d_006":"Which is the major RNA editing enzyme in Drosophila melanogaster?","5519113b622b19434500000f_029":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5547a01cf35db75526000005_010":"In which kingdom do microsporidia belong, according to their current classification scheme?","51405cd123fec90375000005_003":"Which is the defective protein causing the lysosomal storage disease Fabry?","5545186cbf90a13052000002_002":"Which gene strand is targeted by transcription-coupled repair (TCR)?","5891f9e549702f2e01000002_008":"Willis-Ekbom disease is also known as?","58d8e6818acda3452900000a_019":"Which gene mutations cause the Marfan syndrome?","56c079b1ef6e394741000022_012":"Idarucizumab is an antidote of which drug?","5895f7e978275d0c4a000001_001":"What fruit causes Jamaican vomiting sickness?","5540b9800083d1bf0e000002_007":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","56ffdc1ccf1c32585100000b_006":"Which is the most common editing modification in eukaryotic mRNA?","5324a8ac9b2d7acc7e000018_054":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","56bc77a3ac7ad10019000015_034":"RTS S AS01 vaccine was developed to prevent which disease?","5a7234352dc08e987e000007_009":"What is the most common histological diagnosis of \"butterfly glioma\"?","56c1f00cef6e39474100003e_002":"Aleglitazar is agonist of which receptor?","58f4b25e70f9fc6f0f000011_002":"Hy's law measures failure for what organ?","54f9b74306d9727f76000004_006":"The drug JTV519 is derivative of which group of chemical compounds?","587f7a69d8d850a152000001_005":"Which library is used for fixed-length approximate string matching?","5a7877c0faa1ab7d2e00000c_003":"What is the first line treatment for sarcoidosis?","5a68f005b750ff4455000016_009":"Which personality disorder is treated using dialectical behavior therapy?","56d1f790f22319765a000001_014":"Which gene harbors the mutation T790M?","54f9b74306d9727f76000004_002":"The drug JTV519 is derivative of which group of chemical compounds?","53357ca0d6d3ac6a3400004b_008":"Which enzyme is inhibited by a drug fostamatinib?","5891f9e549702f2e01000002_011":"Willis-Ekbom disease is also known as?","5313058de3eabad02100000e_002":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","532dcfc9d6d3ac6a34000021_010":"What is the characteristic domain of histone methyltransferases?","5880b073c872c95565000003_040":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5a87ea1861bb38fb2400000d_001":"What is a coligo?","58d8e6818acda3452900000a_055":"Which gene mutations cause the Marfan syndrome?","58a5b1fe60087bc10a000024_001":"What is the role of the UBC9 enzyme in the protein sumoylation pathway?","5a68f005b750ff4455000016_001":"Which personality disorder is treated using dialectical behavior therapy?","5171438a8ed59a060a000007_011":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","56ed0ffe2ac5ed1459000008_012":"Which type of myeloma is ixazomib being evaluated for?","56c04412ef6e39474100001b_022":"Which molecule is targeted by Daratumumab?","58da1aa08acda34529000012_002":"Which protein is associated with hyperemesis gravidarum during pregrancy?","552fac4fbc4f83e828000006_007":"Which fusion protein is involved in the development of Ewing sarcoma?","53442ca9aeec6fbd0700000b_001":"Which is the  subcellular localization of ERAP2?","5a68f005b750ff4455000016_007":"Which personality disorder is treated using dialectical behavior therapy?","5880b073c872c95565000003_003":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5a9ac7ba1d1251d03b000013_003":"What does intepirdine target?","52bf1d9e03868f1b06000010_009":"To the ligand of which receptors does Denosumab (Prolia) bind?","571f5c150fd6f91b68000009_012":"Which protein is found to be mutated in Friedreich's ataxia?","53551206a0726bee57000001_006":"What is the major adverse effect of adriamycin(doxorubicin)?","55200c606b348bb82c000013_024":"Which clotting factor is inhibited by betrixaban?","58dd0dde8acda34529000027_003":"What tissue is commonly affected in Marfan's syndrome","5353aedb288f4dae47000006_016":"Which is the transcript responsible for X-chromosome inactivation?","5a68f448b750ff4455000018_006":"Which bacteria causes erythrasma?","530cefaaad0bf1360c00000d_014":"Which hormone abnormalities are common in Williams syndrome ?","5a6a3335b750ff4455000025_002":"Which algorithm is available for computing minimal absent words using external memory?","58a2e5f760087bc10a000007_020":"Which is the primary protein component of Lewy bodies?","56f780cb09dd18d46b000011_002":"Which is the target protein of the drug nivolumab?","5a679e8cb750ff4455000006_001":"Milwaukee protocol was tested for treatment of which disease?","5880b073c872c95565000003_005":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","56a24dfffe92d6fd19000002_004":"What is the role of eteplirsen in DMD patients?","5518e7da622b194345000004_018":"Which MAP kinase phosphorylates the transcription factor c-jun?","5324a8ac9b2d7acc7e000018_058":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","54df695b1388e8454a000004_010":"What is the synonym of the lubag disease?","5519a7d5622b194345000015_004":"Which is the most abundant membrane protein on Earth?","58a5a51060087bc10a000021_004":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5a68f005b750ff4455000016_008":"Which personality disorder is treated using dialectical behavior therapy?","56c1f01def6e394741000045_007":"Orteronel was developed for treatment of which cancer?","514a0a57d24251bc05000051_049":"Which drug should be used as an antidote in benzodiazepine overdose?","5519113b622b19434500000f_006":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","571e40a8bb137a4b0c000009_008":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","514a0a57d24251bc05000051_038":"Which drug should be used as an antidote in benzodiazepine overdose?","58cbb98c02b8c60953000034_048":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a871a6861bb38fb24000009_006":"What disease is the ALK tyrosine kinase associated with?","589a246078275d0c4a00002a_011":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","58cbb98c02b8c60953000034_040":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5ace37d50340b9f058000011_004":"Which is the main reason for the increase in the incidence of cryptococcal disease?","56e0447a51531f7e3300000b_001":"Which are the smallest known subviral pathogens of plants?","553c9f96f32186855800000c_003":"How are ultraconserved elements called when they form clusters?","58bc5e2202b8c60953000002_012":"Which human disease is associated with mutated UBQLN2","589d965a78275d0c4a000049_008":"Which polymerase transcribes pri-miRNAs?","56afe6d40a360a5e45000017_005":"Which tool is used for promoterome mining using CAGE data?","571f5c150fd6f91b68000009_005":"Which protein is found to be mutated in Friedreich's ataxia?","58a1c0f178275d0c4a000056_001":"When did the polio vaccine becomes available?","5518e7da622b194345000004_008":"Which MAP kinase phosphorylates the transcription factor c-jun?","550f0e4c6a8cde6b72000003_023":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","52bf1f1303868f1b06000014_007":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","5139b31dbee46bd34c000004_003":"Which is the most widely used model for the study of multiple sclerosis (MS)?","58a2e5f760087bc10a000007_019":"Which is the primary protein component of Lewy bodies?","571e14fbbb137a4b0c000001_010":"For which type of diabetes can empagliflozin be used?","56e0447a51531f7e3300000b_009":"Which are the smallest known subviral pathogens of plants?","5717dbfe7de986d80d000001_017":"What is the functional role of the protein Drp1?","56d1f790f22319765a000001_011":"Which gene harbors the mutation T790M?","58a32efe60087bc10a000013_026":"What is MRSA?","5710e131a5ed216440000001_007":"In which yeast chromosome does the rDNA cluster reside?","51585b28d24251bc0500008d_004":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","54ff45966ad7dcbc12000010_004":"Which protein is causing Netherton syndrome?","5a6e4d22b750ff445500004d_001":"Mutations in which gene cause Schimke immune-osseous dysplasia?","5895bc397d9090f35300000b_007":"Mutation of which gene is implicated in the Christianson syndrome?","55054f8af73303d458000002_017":"Which bone protein is used in archaelogy for dating and species identification?","5891c90949702f2e01000001_006":"Which tool employs self organizing maps for analyzing synonymous codon usage?","53124bdae3eabad02100000b_001":"Which is the molecular target of the immunosuppressant drug Rapamycin?","55180ef46487737b43000006_001":"What is the typical rash associated with gluten ?","58f4b9d470f9fc6f0f000016_005":"What organism causes tularemia?","56c1d857ef6e394741000033_003":"What enzyme is inhibied by Opicapone?","514a0a57d24251bc05000051_036":"Which drug should be used as an antidote in benzodiazepine overdose?","56d19a363975bb303a000017_003":"Which factor interacts with Treslin\/TICRR throughout the cell cycle of human cells?","531464a6e3eabad021000014_044":"Mutation of which gene is associated with McLeod syndrome?","58adc1ff9ef3c34033000006_013":"Which protein mediates gene loop formation in the yeast S. cerevisiae?","5a70d42899e2c3af26000002_003":"Mutation of which gene causes arterial tortuosity syndrome?","55421ee7ccca0ce74b000002_006":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","58a5a51060087bc10a000021_005":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","56c079b1ef6e394741000022_003":"Idarucizumab is an antidote of which drug?","5880aef4c872c95565000001_032":"What is the target of daratumumab?","54cb9c94f693c3b16b000005_001":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","56e0447a51531f7e3300000b_002":"Which are the smallest known subviral pathogens of plants?","5505a587f73303d458000005_001":"What does mTOR stands for?","5147c8a6d24251bc05000027_011":"Which enzyme is deficient in Krabbe disease?","550f0e4c6a8cde6b72000003_011":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5a68f448b750ff4455000018_007":"Which bacteria causes erythrasma?","5a72302b2dc08e987e000005_003":"Treatment of which disease was studied in the Gore REDUCE Clinical Study?","5a6e3155b750ff445500003f_004":"Which R\/Bioconductor package has been developed for cancer subtype identification?","587e3e302420191125000002_005":"Which R \/ bioconductor package is used for enrichment analysis of genomic regions?","5a6e472ab750ff4455000048_002":"What is the function of the TMEM132 genes?","550f0e4c6a8cde6b72000003_001":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5147c088d24251bc05000026_005":"Which type of lung cancer is the most strongly associated with Lambert-Eaton syndrome?","5506c3e38e1671127b00000a_044":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58d906b28acda3452900000d_005":"Where is the TAZ (G4.5) is located in humans?","56c048acef6e39474100001c_012":"Which enzyme is inhibited by Imetelstat?","51635202298dcd4e5100004f_002":"How is myotonic dystrophy inherited?","56c1d857ef6e394741000033_005":"What enzyme is inhibied by Opicapone?","54cb9c94f693c3b16b000005_015":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","56f564f909dd18d46b000009_003":"Which syndrome is associated with mutations in the LYST gene?","55180ef46487737b43000006_016":"What is the typical rash associated with gluten ?","5a68f005b750ff4455000016_014":"Which personality disorder is treated using dialectical behavior therapy?","589a246078275d0c4a00002a_017":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5519113b622b19434500000f_007":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","58a2e5f760087bc10a000007_002":"Which is the primary protein component of Lewy bodies?","5717dbfe7de986d80d000001_009":"What is the functional role of the protein Drp1?","5ace37d50340b9f058000011_010":"Which is the main reason for the increase in the incidence of cryptococcal disease?","52bf1b0a03868f1b06000009_009":"What is the mode of inheritance of Wilson's disease?","58a32efe60087bc10a000013_038":"What is MRSA?","587e3e302420191125000002_001":"Which R \/ bioconductor package is used for enrichment analysis of genomic regions?","514a0a57d24251bc05000051_032":"Which drug should be used as an antidote in benzodiazepine overdose?","5343fc1aaeec6fbd07000003_041":"Which is the gene mutated in type 1 neurofibromatosis?","5717dbfe7de986d80d000001_006":"What is the functional role of the protein Drp1?","58f0b1d670f9fc6f0f000007_001":"What is a miR?","590c74d170f9fc6f0f00001e_002":"Which gene is the paralog of yeast UPC2?","58a57f9460087bc10a00001f_017":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","58eb99f3eda5a57672000009_005":"Do origins of replication close to yeast centromeres fire early or late?","5a6f853ab750ff4455000055_011":"Which disease can be diagnosed with the \"probe to bone\" test?","5314bd7ddae131f847000006_003":"Which hormone receptor function is altered in patients with Donohue syndrome?","56c048acef6e39474100001c_004":"Which enzyme is inhibited by Imetelstat?","58ea7248eda5a57672000002_003":"What is the phenotype of people carrying mutations in the gene PRDM12?","5880aef4c872c95565000001_013":"What is the target of daratumumab?","5a89800efcd1d6a10c00000c_001":"Where is the enzyme PM20D1 localized?","56c1f020ef6e394741000047_023":"Which disorder is rated by Palmini classification?","514a0a57d24251bc05000051_030":"Which drug should be used as an antidote in benzodiazepine overdose?","51542e44d24251bc05000081_003":"Mutations in which gene determine response to both erlotinib and gefitinib?","5ace238e0340b9f05800000d_005":"Which human chromosome is the product of fusion?","56d860ad51531f7e33000002_011":"Which syndrome is NHE6 associated with?","54d649843706e89528000009_003":"What is the target of the drug Olaparib?","587f7a69d8d850a152000001_004":"Which library is used for fixed-length approximate string matching?","54d907c84b1fd0d33c000008_005":"Which molecule is targeted by a monoclonal antibody Mepolizumab?","5880aef4c872c95565000001_035":"What is the target of daratumumab?","5506c3e38e1671127b00000a_003":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","55475dc2f35db75526000001_013":"Which is the most known bacterium responsible for botulism (sausage-poisoning)?","58dd0dde8acda34529000027_002":"What tissue is commonly affected in Marfan's syndrome","530cefaaad0bf1360c00000d_004":"Which hormone abnormalities are common in Williams syndrome ?","5324a8ac9b2d7acc7e000018_015":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58a32efe60087bc10a000013_040":"What is MRSA?","54cb9c94f693c3b16b000005_007":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5708992ccf1c32585100000d_001":"What is the RESID database?","5506c3e38e1671127b00000a_048":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5880b073c872c95565000003_027":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","56c1f010ef6e394741000041_002":"Simpson grading is used to describe resection of which brain tumor?","56ae6e650a360a5e4500000e_002":"Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica","56c1f020ef6e394741000047_008":"Which disorder is rated by Palmini classification?","5a6d196db750ff4455000032_006":"Which resource has been developed in order to study the transcriptional regulation of GABAergic cell fate?","56d1da3b67f0cb3d66000006_006":"How many periods of regulatory innovation led to the evolution of vertebrates?","5a79d0b8faa1ab7d2e00000d_012":"What cellular process are okazaki fragments associated with?","56c1f020ef6e394741000047_011":"Which disorder is rated by Palmini classification?","56c048acef6e39474100001c_019":"Which enzyme is inhibited by Imetelstat?","54cb9c94f693c3b16b000005_005":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","54f9c40ddd3fc62544000001_011":"Which calcium\/calmodulin dependent protein phosphatase is involved in the activation of the family of NFAT transcription factors (Nuclear Factors of Activated T cells)?","5a6fa31ab750ff445500005e_002":"Which method has been developed for assignment of enhancers to target genes?","5518e7da622b194345000004_002":"Which MAP kinase phosphorylates the transcription factor c-jun?","58a644e560087bc10a000027_005":"What is the drug target for Simtuzumab?","56ed0ffe2ac5ed1459000008_014":"Which type of myeloma is ixazomib being evaluated for?","533ea8fcc45e133714000010_019":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","5505edac8e1671127b000005_001":"What kind of chromatography is HILIC?","54cb9c94f693c3b16b000005_009":"Which is the main regulatory molecule of SERCA2A function in the cardiac muscle?","5a8b1264fcd1d6a10c00001d_011":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","5880aef4c872c95565000001_024":"What is the target of daratumumab?","5717dbfe7de986d80d000001_016":"What is the functional role of the protein Drp1?","5506ce078e1671127b00000b_002":"Which protein phosphatase has been found to interact with the heat shock protein, HSP20?","56c1f045ef6e394741000058_002":"Selexipag is used for which disease?","530cefaaad0bf1360c000012_006":"Which deficiency is the cause of restless leg syndrome?","530cefaaad0bf1360c000012_011":"Which deficiency is the cause of restless leg syndrome?","587f760792a5b8ad44000005_002":"Which peak calling algorithm employs mixture model clustering under the hood?","5545186cbf90a13052000002_017":"Which gene strand is targeted by transcription-coupled repair (TCR)?","571e14fbbb137a4b0c000001_003":"For which type of diabetes can empagliflozin be used?","58dbb8968acda3452900001b_001":"What condition is usually represented by the acronym SUDEP?","532f55fed6d3ac6a34000036_009":"What is the gene mutated in the Gaucher disease?","5543829fed966d112c000009_002":"Which is the major phytoalexin in alfalfa (Medicago sativa L.)?","54db62a3034aea571d000001_004":"Which is the main calcium pump of the sarcoplasmic reticulum?","54f35ad864850a5854000004_008":"LY450139 is investigational name of which drug?","589480b47d9090f353000007_001":"Which server is used for simulation of macromolecular diffusional association?","52b2e498f828ad283c000010_003":"Mutation of which gene is associated with Achondroplasia?","571e14fbbb137a4b0c000001_002":"For which type of diabetes can empagliflozin be used?","5a72302b2dc08e987e000005_001":"Treatment of which disease was studied in the Gore REDUCE Clinical Study?","58bfd8e902b8c60953000018_018":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5149f494d24251bc0500004c_018":"Which medication should be administered when managing patients with suspected acute opioid overdose?","52bf1d9e03868f1b06000010_002":"To the ligand of which receptors does Denosumab (Prolia) bind?","514a0a57d24251bc05000051_014":"Which drug should be used as an antidote in benzodiazepine overdose?","5a4df811966455904c00000e_011":"Which RNA polymerase II subunit carries RNA cleavage activity?","58a9d8a1396a458e50000005_001":"Where is the respirasome located?","5ace19420340b9f05800000a_019":"Which gene is responsible for red hair?","5a7237672dc08e987e000008_024":"Which drug can be reversed with idarucizumab?","5710e131a5ed216440000001_005":"In which yeast chromosome does the rDNA cluster reside?","550e828c71445a662f000002_014":"Which molecule is targeted by the drug Gevokizumab?","55054f8af73303d458000002_016":"Which bone protein is used in archaelogy for dating and species identification?","589a247078275d0c4a000035_016":"Dinutuximab is used for treatment of which disease?","56bc77a3ac7ad10019000015_008":"RTS S AS01 vaccine was developed to prevent which disease?","55032e65e9bde69634000034_012":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","53318685d6d3ac6a3400003d_002":"What is the mode of inheritance of Acromicric dysplasia?","52bf1d9e03868f1b06000010_003":"To the ligand of which receptors does Denosumab (Prolia) bind?","55242d512c8b63434a000006_020":"Which receptors can be evaluated with the [18F]altanserin?","5895bc397d9090f35300000b_012":"Mutation of which gene is implicated in the Christianson syndrome?","550f0e4c6a8cde6b72000003_044":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","571e40a8bb137a4b0c000009_007":"Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?","551c23bc6b348bb82c00000b_008":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","536e46f27d100faa09000012_009":"Which is the gene most commonly mutated in Tay-Sachs disease?","587e0116ae05ffb474000002_003":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","58cbb98c02b8c60953000034_075":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","551fd9c06b348bb82c000012_036":"ROSIER scale is used for which disorder?","5353aedb288f4dae47000006_029":"Which is the transcript responsible for X-chromosome inactivation?","56c04412ef6e39474100001b_023":"Which molecule is targeted by Daratumumab?","5540ca8a0083d1bf0e000003_002":"Which intermediate filament (IF) protein can be used as a non-specific marker of the neuronal precursor cells of the subventricular zone?","5a76179d83b0d9ea66000021_006":"Which algorithm has been proposed for efficient storage of WGS variant calls?","56bc77a3ac7ad10019000015_031":"RTS S AS01 vaccine was developed to prevent which disease?","530cefaaad0bf1360c000012_004":"Which deficiency is the cause of restless leg syndrome?","56c85ed65795f9a73e000012_005":"Does dasatinib promote or inhibit T-cell proliferation?","5a4df811966455904c00000e_005":"Which RNA polymerase II subunit carries RNA cleavage activity?","5ace19420340b9f05800000a_010":"Which gene is responsible for red hair?","56bdc79bef6e394741000001_003":"Which eye condition is managed by the athens protocol?","5717dbfe7de986d80d000001_023":"What is the functional role of the protein Drp1?","55242d512c8b63434a000006_029":"Which receptors can be evaluated with the [18F]altanserin?","5a7237672dc08e987e000008_007":"Which drug can be reversed with idarucizumab?","5a6a3464b750ff4455000026_006":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","530cefaaad0bf1360c00000d_006":"Which hormone abnormalities are common in Williams syndrome ?","5a39453d966455904c000006_002":"Which method for subsampling of NGS reads requires only gene counts?","571f609c0fd6f91b6800000c_002":"Which enzyme deficiency can cause GM1 gangliosidoses?","5891c90949702f2e01000001_005":"Which tool employs self organizing maps for analyzing synonymous codon usage?","58edf567eda5a57672000011_001":"How many genes constitute the DosR regulon, controlled by the dormancy survival regulator (DosR) in Mycobacterium tuberculosis?","58cbb98c02b8c60953000034_028":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56b710f276d8bf8d13000003_005":"What is the effect of a defective CLN3 gene?","5891c90949702f2e01000001_014":"Which tool employs self organizing maps for analyzing synonymous codon usage?","532dcfc9d6d3ac6a34000021_014":"What is the characteristic domain of histone methyltransferases?","58a32efe60087bc10a000013_054":"What is MRSA?","551c23bc6b348bb82c00000b_002":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","56d860ad51531f7e33000002_002":"Which syndrome is NHE6 associated with?","56bc77a3ac7ad10019000015_013":"RTS S AS01 vaccine was developed to prevent which disease?","55180ef46487737b43000006_014":"What is the typical rash associated with gluten ?","58a32efe60087bc10a000013_017":"What is MRSA?","5a6e24a5b750ff445500003c_001":"Which workflow in Bioconductor has been developed for accessing human RNA-seq samples?","5abcf0b0fcf4565872000024_004":"What causes leishmaniasis?","56af9f130a360a5e45000015_001":"Where is the protein Pannexin1 located?","52fa6ac72059c6d71c000055_007":"Is the transcriptional regulator BACH1 an activator or a repressor?","58e75d483e8b6dc87c000005_004":"Which gene controls the expression of GATA-1 isoforms?","530cf4c54a5037880c000008_001":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5509bd6a1180f13250000002_001":"What disease is small bowel lymphoma commonly associated with","58a5a51060087bc10a000021_009":"Which NADPH oxidase family member requires interaction with NOXO1 for function?","5a6fa61ab750ff4455000060_001":"Which tool exists for microsatellite (SSR) loci detection and primer design?","5717dbfe7de986d80d000001_013":"What is the functional role of the protein Drp1?","52fe52702059c6d71c000078_002":"Where is the histone variant CENPA preferentially localized?","5324a8ac9b2d7acc7e000018_037":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","530cf4e0c8a0b4a00c000006_009":"Which is the most common cause of sudden cardiac death in young athletes?","5a70e4b399e2c3af26000008_003":"Glecaprevir and Pibrentasvir are used for tratment of which disease?","51542e44d24251bc05000081_005":"Mutations in which gene determine response to both erlotinib and gefitinib?","5171438a8ed59a060a000007_005":"What is the gene frequently mutated in Multiple endocrine neoplasia 2 (MEN2) and Hisrchsprung disease?","55032e65e9bde69634000034_018":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","51596a8ad24251bc0500009e_004":"Where in the cell do we find the protein Cep135?","55200c606b348bb82c000013_008":"Which clotting factor is inhibited by betrixaban?","56ecfd572ac5ed1459000002_004":"How is oprozomib administered?","58d8e6818acda3452900000a_026":"Which gene mutations cause the Marfan syndrome?","5ab147edfcf4565872000013_003":"The Mantoux test detects what latent infection\/disease?","58cdb41302b8c60953000042_007":"What tissue is most affected in Ehlers-Danlos syndromes?","58b6978822d300530900000a_002":"Which disease the London mutation involved in?","58a32efe60087bc10a000013_009":"What is MRSA?","53357ca0d6d3ac6a3400004b_004":"Which enzyme is inhibited by a drug fostamatinib?","58cbb98c02b8c60953000034_049":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5a8b1264fcd1d6a10c00001d_006":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","5147c8a6d24251bc05000027_003":"Which enzyme is deficient in Krabbe disease?","5506c3e38e1671127b00000a_040":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","56e857ae42442bac75000004_001":"What is needed for MMP proteins to be functional?","52e92c6e98d0239505000024_001":"Which gene is associated with the Mitchell-Riley syndrome?","58dd0dde8acda34529000027_009":"What tissue is commonly affected in Marfan's syndrome","55200c606b348bb82c000013_020":"Which clotting factor is inhibited by betrixaban?","58bc5e2202b8c60953000002_007":"Which human disease is associated with mutated UBQLN2","53617eeb7d100faa0900000a_002":"What is the name for anorexia in gymnasts?","536e46f27d100faa09000012_012":"Which is the gene most commonly mutated in Tay-Sachs disease?","551c23bc6b348bb82c00000b_004":"Mutation of which gene is implicated in the familial isolated pituitary adenoma?","58b6978822d300530900000a_009":"Which disease the London mutation involved in?","5545186cbf90a13052000002_004":"Which gene strand is targeted by transcription-coupled repair (TCR)?","569e7721ceceede94d000001_001":"What was the purpose of the FANTOM4 project?","551fd9c06b348bb82c000012_037":"ROSIER scale is used for which disorder?","51585b28d24251bc0500008d_025":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","56bc7d71ac7ad10019000018_005":"Which disease can be treated with Delamanid?","589185cc621ea6ff7e00000b_014":"Which disease is treated with Nusinersen?","530cefaaad0bf1360c000012_008":"Which deficiency is the cause of restless leg syndrome?","589630f378275d0c4a000007_008":"Which enzyme is inhibited by ixazomib?","54e1bdacae9738404b000009_003":"What is generic name of drug Adempas?","5149f494d24251bc0500004c_003":"Which medication should be administered when managing patients with suspected acute opioid overdose?","5a8980d2fcd1d6a10c00000d_005":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","5891f9e549702f2e01000002_034":"Willis-Ekbom disease is also known as?","54ff45966ad7dcbc12000010_003":"Which protein is causing Netherton syndrome?","58cbb98c02b8c60953000034_067":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5ace37d50340b9f058000011_009":"Which is the main reason for the increase in the incidence of cryptococcal disease?","56e6ec49edfc094c1f000005_003":"Which is the target of the drug Denosumab?","5717d64f29809bbe7a000001_003":"Which is the cellular localization of the protein Opa1?","56c85ed65795f9a73e000012_001":"Does dasatinib promote or inhibit T-cell proliferation?","5a895f51fcd1d6a10c000004_010":"What is the preferred orientation of CTCF binding sites for chromatin looping?","5ace19420340b9f05800000a_009":"Which gene is responsible for red hair?","58a2e5f760087bc10a000007_021":"Which is the primary protein component of Lewy bodies?","58d8e6818acda3452900000a_008":"Which gene mutations cause the Marfan syndrome?","54cf7051f693c3b16b000013_001":"Treatment of which disease was investigated in the MR CLEAN study?","58a2e5f760087bc10a000007_026":"Which is the primary protein component of Lewy bodies?","51387022bee46bd34c000002_008":"Which is the process that Conserved noncoding elements mostly regulate?","5a761ac3aacfb9cd4c000002_009":"What is the most common feature of the Doege\u2013Potter syndrome?","58eb9542eda5a57672000007_031":"Which protein is the main marker of Cajal bodies?","5891c90949702f2e01000001_017":"Which tool employs self organizing maps for analyzing synonymous codon usage?","58e9e7aa3e8b6dc87c00000d_001":"Which is the major RNA editing enzyme in Drosophila melanogaster?","514a0a57d24251bc05000051_031":"Which drug should be used as an antidote in benzodiazepine overdose?","58cbb98c02b8c60953000034_004":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5518e7da622b194345000004_009":"Which MAP kinase phosphorylates the transcription factor c-jun?","5324a8ac9b2d7acc7e000018_046":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","53357193d6d3ac6a34000047_023":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","530cf4e0c8a0b4a00c000006_007":"Which is the most common cause of sudden cardiac death in young athletes?","587f7a69d8d850a152000001_006":"Which library is used for fixed-length approximate string matching?","58eb9542eda5a57672000007_017":"Which protein is the main marker of Cajal bodies?","56d860ad51531f7e33000002_005":"Which syndrome is NHE6 associated with?","533ea8fcc45e133714000010_015":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","52bf1b0a03868f1b06000009_003":"What is the mode of inheritance of Wilson's disease?","54edf81f94afd61504000014_006":"Which SWI\/SNF protein complex subunit has been demonstrated to interact with the FANCA gene product?","56ecfd572ac5ed1459000002_001":"How is oprozomib administered?","58a32efe60087bc10a000013_010":"What is MRSA?","571f5c150fd6f91b68000009_014":"Which protein is found to be mutated in Friedreich's ataxia?","550342a8f8aee20f27000002_007":"Which is the major symptom of the Doose syndrome?","587e2300fc7e8dd84f000004_006":"Which R package could be used for the identification of pediatric brain tumors?","56ffdc1ccf1c32585100000b_002":"Which is the most common editing modification in eukaryotic mRNA?","56c1f003ef6e394741000039_011":"What molecule is targeted by suvorexant?","5a871a6861bb38fb24000009_009":"What disease is the ALK tyrosine kinase associated with?","58a2e5f760087bc10a000007_012":"Which is the primary protein component of Lewy bodies?","5a7617b183b0d9ea66000022_005":"What is inhibited by a drug rilotumumab?","51651e24298dcd4e51000054_004":"How many genera comprise the Flaviviridae family?","589a246078275d0c4a00002a_004":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","531464a6e3eabad021000014_060":"Mutation of which gene is associated with McLeod syndrome?","56d85e7751531f7e33000001_004":"Which SLC family is FLVCR1 a member of?","5a742d620384be9551000002_002":"Which disease risk can be estimated with the Stop-Bang questionnaire?","58dcb47c8acda34529000020_003":"What is the role of TAD protein domain?","5ac725250340b9f058000006_001":"Which miRNA is associated with the circular RNA ciRS-7?","5343fc1aaeec6fbd07000003_013":"Which is the gene mutated in type 1 neurofibromatosis?","551fd9c06b348bb82c000012_012":"ROSIER scale is used for which disorder?","5abcf010fcf4565872000023_007":"What nerve is involved in carpal tunnel syndrome?","55421ee7ccca0ce74b000002_010":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5a6f960fb750ff445500005c_006":"Centor criteria are used for which disease?","5518e7da622b194345000004_001":"Which MAP kinase phosphorylates the transcription factor c-jun?","58861d413b87a8a738000002_024":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5895bc397d9090f35300000b_025":"Mutation of which gene is implicated in the Christianson syndrome?","53372ba3d6d3ac6a34000058_001":"Which histone modification is primarily linked to elongating transcription?","52f89fc62059c6d71c000050_009":"From which tissue was the NCI-H520 cell-line derived?","571e12097de986d80d000017_001":"Which protein does empagliflozin inhibit?","5895f18ce370baff39000001_006":"Which method is used for prediction of novel microRNA genes in cancer-associated genomic regions?","5a4e50b242878bf97d000001_010":"Which topoisomerase is essential in yeast?","56c04412ef6e39474100001b_017":"Which molecule is targeted by Daratumumab?","5519113b622b19434500000f_009":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","5a895f51fcd1d6a10c000004_001":"What is the preferred orientation of CTCF binding sites for chromatin looping?","5343fc1aaeec6fbd07000003_020":"Which is the gene mutated in type 1 neurofibromatosis?","5a76160a83b0d9ea66000020_001":"Which sequence-based algorithm for branch point prediction has been proposed?","5a72329e2dc08e987e000006_001":"Falciform ligament sign is characteristic to which disease?","5a7237672dc08e987e000008_032":"Which drug can be reversed with idarucizumab?","5545186cbf90a13052000002_022":"Which gene strand is targeted by transcription-coupled repair (TCR)?","530cf4c54a5037880c000008_004":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","58a32edd60087bc10a000012_003":"What is Contrave prescribed for?","55421ee7ccca0ce74b000002_025":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","5880aef4c872c95565000001_031":"What is the target of daratumumab?","58cbb98c02b8c60953000034_041":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","532f55fed6d3ac6a34000036_006":"What is the gene mutated in the Gaucher disease?","5880b073c872c95565000003_006":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","5a7617b183b0d9ea66000022_006":"What is inhibited by a drug rilotumumab?","5abcf0b0fcf4565872000024_001":"What causes leishmaniasis?","56b7083376d8bf8d13000001_004":"What is the causative agent of the \"Panama disease\" affecting bananas?","5148691bd24251bc0500002d_009":"Which protein is affected by dusp8 activation?","51585b28d24251bc0500008d_002":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","5ace19420340b9f05800000a_041":"Which gene is responsible for red hair?","5540b9800083d1bf0e000002_002":"Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers?","55421ee7ccca0ce74b000002_019":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","551fd9c06b348bb82c000012_030":"ROSIER scale is used for which disorder?","56ed03862ac5ed1459000004_003":"Which enzyme does MLN4924 inhibit?","533be71dfd9a95ea0d000009_008":"Which is the histone residue methylated by MLL1?","5506c3e38e1671127b00000a_035":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5710e131a5ed216440000001_003":"In which yeast chromosome does the rDNA cluster reside?","569e7721ceceede94d000001_003":"What was the purpose of the FANTOM4 project?","5518e7da622b194345000004_013":"Which MAP kinase phosphorylates the transcription factor c-jun?","5a7237672dc08e987e000008_008":"Which drug can be reversed with idarucizumab?","5506c3e38e1671127b00000a_004":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","55032efde9bde69634000035_004":"Which receptor is targeted by telcagepant?","5313058de3eabad02100000e_008":"Abnormality in which vertebral region is important in the Bertolotti's syndrome?","51542e44d24251bc05000081_007":"Mutations in which gene determine response to both erlotinib and gefitinib?","5519113b622b19434500000f_023":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","58cbb98c02b8c60953000034_056":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","5ac138aa95d0062724000001_001":"Which is the enzymatic activity of nardilysin?","58bca2f302b8c6095300000c_006":"What chromosome is affected in Turner's syndrome?","571f5c150fd6f91b68000009_010":"Which protein is found to be mutated in Friedreich's ataxia?","551fd9c06b348bb82c000012_021":"ROSIER scale is used for which disorder?","52c7275103868f1b0600001c_002":"What is the inheritance pattern of Apert syndrome?","55192892622b194345000012_004":"Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)?","588f8e9794c1512c50000005_005":"Which R package is used for the analysis of genome-wide DNA methylation profiles?","56c1f01def6e394741000045_005":"Orteronel was developed for treatment of which cancer?","551fd9c06b348bb82c000012_005":"ROSIER scale is used for which disorder?","51651e24298dcd4e51000054_006":"How many genera comprise the Flaviviridae family?","52bf1f1303868f1b06000014_006":"What type of enzyme is peroxiredoxin 2 (PRDX2)?","5891f9e549702f2e01000002_012":"Willis-Ekbom disease is also known as?","5abcf010fcf4565872000023_002":"What nerve is involved in carpal tunnel syndrome?","5a86f074faa1ab7d2e00003a_003":"With which cancers has the loss of SMARCB1 been associated?","550739cf3b8a5dc045000002_004":"Which is the RNA sequence of the canonical polyadenylation signal?","58eb9542eda5a57672000007_027":"Which protein is the main marker of Cajal bodies?","58d8e6818acda3452900000a_013":"Which gene mutations cause the Marfan syndrome?","58861d413b87a8a738000002_021":"Symptoms of which disorder are evaluated with the Davidson Trauma Scale?","5708a845cf1c32585100000f_003":"Which signaling pathway is activating the dishevelled proteins?","55054f8af73303d458000002_020":"Which bone protein is used in archaelogy for dating and species identification?","58a32efe60087bc10a000013_024":"What is MRSA?","55201a316b348bb82c000019_002":"What is the sedimentation coefficient of the mammalian mitoribosome?","58eb9542eda5a57672000007_001":"Which protein is the main marker of Cajal bodies?","5506c3e38e1671127b00000a_019":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5a8980d2fcd1d6a10c00000d_006":"Which is the main protein in brown adipose tissue (BAT) active in thermogenesis?","589a246078275d0c4a00002a_003":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5324a8ac9b2d7acc7e000018_060":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","571f33bd0fd6f91b68000003_011":"Which gene is responsible for the development of Sotos syndrome?","5a74e9ad0384be955100000a_001":"What is a SERM?","54d649843706e89528000009_001":"What is the target of the drug Olaparib?","56c1f003ef6e394741000039_006":"What molecule is targeted by suvorexant?","58e3d9ab3e8b6dc87c000002_002":"Angelman syndrome is associated with deletion of a part of Chromosome 15 but if the deletion occurs in the paternally inherited chromosome 15, what is the disease?","530f900ee3eabad021000003_015":"Which hormone concentrations are altered in patients with the Allan\u2013Herndon\u2013Dudley syndrome?","51631154298dcd4e5100004e_008":"What disease is Velcade (bortezomib) mainly used for?","58a6db8660087bc10a00002c_018":"Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?","5519a7d5622b194345000015_002":"Which is the most abundant membrane protein on Earth?","5149f494d24251bc0500004c_002":"Which medication should be administered when managing patients with suspected acute opioid overdose?","58d8e6818acda3452900000a_032":"Which gene mutations cause the Marfan syndrome?","550f0e4c6a8cde6b72000003_015":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5a68f005b750ff4455000016_003":"Which personality disorder is treated using dialectical behavior therapy?","56c8f4615795f9a73e00001a_005":"Which genome browser database for DNA shape annotations is available?","5a7237672dc08e987e000008_019":"Which drug can be reversed with idarucizumab?","5a74e9ad0384be955100000a_007":"What is a SERM?","56d1da3b67f0cb3d66000006_001":"How many periods of regulatory innovation led to the evolution of vertebrates?","550c3d45a103b78016000008_002":"What is the main component of the Lewy bodies?","5a67c497b750ff4455000012_001":"Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease?","5a68f005b750ff4455000016_016":"Which personality disorder is treated using dialectical behavior therapy?","52fe58f82059c6d71c00007a_003":"Do archaeal genomes contain one or multiple origins of replication?","5717dbfe7de986d80d000001_004":"What is the functional role of the protein Drp1?","56c8274f5795f9a73e00000d_005":"Which type of cells is affected in Amyotrophic Lateral Sclerosis?","56ed03862ac5ed1459000004_006":"Which enzyme does MLN4924 inhibit?","511a3573df1ebcce7d000018_010":"How many tissue kallikrein genes are present in the human genome?","58edf567eda5a57672000011_003":"How many genes constitute the DosR regulon, controlled by the dormancy survival regulator (DosR) in Mycobacterium tuberculosis?","552fac4fbc4f83e828000006_001":"Which fusion protein is involved in the development of Ewing sarcoma?","55376f19bc4f83e82800000c_005":"Which is the most common type of pediatric cerebellar tumor?","5a6a3464b750ff4455000026_004":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","58cbb98c02b8c60953000034_070":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","532dcfc9d6d3ac6a34000021_022":"What is the characteristic domain of histone methyltransferases?","587e2300fc7e8dd84f000004_014":"Which R package could be used for the identification of pediatric brain tumors?","5ac3699f0340b9f058000001_002":"Are human enhancers or promoters evolving faster?","56e0447a51531f7e3300000b_004":"Which are the smallest known subviral pathogens of plants?","589d965a78275d0c4a000049_017":"Which polymerase transcribes pri-miRNAs?","56c048acef6e39474100001c_014":"Which enzyme is inhibited by Imetelstat?","5a6fa61ab750ff4455000060_002":"Which tool exists for microsatellite (SSR) loci detection and primer design?","5a774fdcfaa1ab7d2e000008_025":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5a774fdcfaa1ab7d2e000008_018":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","5506c3e38e1671127b00000a_033":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","5139b31dbee46bd34c000004_002":"Which is the most widely used model for the study of multiple sclerosis (MS)?","514a0a57d24251bc05000051_043":"Which drug should be used as an antidote in benzodiazepine overdose?","53357193d6d3ac6a34000047_021":"Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis?","531464a6e3eabad021000014_020":"Mutation of which gene is associated with McLeod syndrome?","5a871a6861bb38fb24000009_005":"What disease is the ALK tyrosine kinase associated with?","56bc77a3ac7ad10019000015_032":"RTS S AS01 vaccine was developed to prevent which disease?","56ed03862ac5ed1459000004_019":"Which enzyme does MLN4924 inhibit?","5a68f448b750ff4455000018_009":"Which bacteria causes erythrasma?","58eb9542eda5a57672000007_025":"Which protein is the main marker of Cajal bodies?","58d8e6818acda3452900000a_033":"Which gene mutations cause the Marfan syndrome?","5324a8ac9b2d7acc7e000018_002":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","58ce9bf1d46b5c2951000002_001":"Which disease is associated with mutated Sox2?","55032e65e9bde69634000034_002":"What is the characteristic feature of the Dyke-Davidoff-Masson syndrome.","517194ef8ed59a060a000011_002":"Which is the causative agent of malaria?","533ea8fcc45e133714000010_021":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","55376f19bc4f83e82800000c_001":"Which is the most common type of pediatric cerebellar tumor?","5880b073c872c95565000003_014":"Andexanet Alfa is an antidote of which clotting factor inhibitors?","58e7902b3e8b6dc87c000007_002":"Which is the most common gene signature in Rheumatoid Arthritis patients?","5a8b1264fcd1d6a10c00001d_010":"Fusarium oxysporum f. sp lycopersici. is a plant pathogen in plants producing what common food?","5324a8ac9b2d7acc7e000018_059":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","587e3129c32c812009000002_005":"Which R \/ bioconductor package is used for performing SNP enrichment analysis?","550f0e4c6a8cde6b72000003_027":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","533ea8fcc45e133714000010_007":"What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?","550f0e4c6a8cde6b72000003_045":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58a57f9460087bc10a00001f_003":"Which mutated gene is associated with Waardenburg and Tietz syndromes?","589317e849702f2e01000005_002":"Which server is used for generating modes of pseudo components of DNA, RNA and protein sequences?","5519113b622b19434500000f_012":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","58bfd8e902b8c60953000018_006":"Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?","5891b125621ea6ff7e00000e_010":"Which disease is treated with taliglucerase alfa?","5ace19420340b9f05800000a_042":"Which gene is responsible for red hair?","56d1f790f22319765a000001_015":"Which gene harbors the mutation T790M?","56c04412ef6e39474100001b_029":"Which molecule is targeted by Daratumumab?","53551206a0726bee57000001_003":"What is the major adverse effect of adriamycin(doxorubicin)?","587e0116ae05ffb474000002_001":"Which tool is available for predicting regulatory interactions from ChIP-seq data?","5506c3e38e1671127b00000a_012":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","54df695b1388e8454a000004_011":"What is the synonym of the lubag disease?","530cf4c54a5037880c000008_007":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","5518e7da622b194345000004_015":"Which MAP kinase phosphorylates the transcription factor c-jun?","54cf7051f693c3b16b000013_004":"Treatment of which disease was investigated in the MR CLEAN study?","5324a8ac9b2d7acc7e000018_012":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","5505db6a8e1671127b000003_002":"What are the structures formed when keratin molecules come together?","5147c8a6d24251bc05000027_010":"Which enzyme is deficient in Krabbe disease?","55421ee7ccca0ce74b000002_030":"Which tumor suppressor is referred to as \"the guardian of the genome\"?","515db3d8298dcd4e51000015_002":"What is the average diameter of intermediate filaments?","533be71dfd9a95ea0d000009_006":"Which is the histone residue methylated by MLL1?","5a70d42899e2c3af26000002_001":"Mutation of which gene causes arterial tortuosity syndrome?","5895f7e978275d0c4a000001_010":"What fruit causes Jamaican vomiting sickness?","56c1f020ef6e394741000047_003":"Which disorder is rated by Palmini classification?","589d965a78275d0c4a000049_001":"Which polymerase transcribes pri-miRNAs?","516e7fda298dcd4e51000081_006":"Which is the methyl donor of histone methyltransferases?","5a75f6e083b0d9ea66000009_003":"Which data simulator is available for CLIP-SEQ experiments?","5506c3e38e1671127b00000a_049":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","58a32edd60087bc10a000012_004":"What is Contrave prescribed for?","5343caffaeec6fbd07000002_004":"Which is the human selenoprotein that contains several Se-Cys residues?","52c7275103868f1b0600001c_003":"What is the inheritance pattern of Apert syndrome?","571e12097de986d80d000017_007":"Which protein does empagliflozin inhibit?","58a95c711978bbde22000001_001":"What disease is the drug aducanumab targeting?","5a7428090384be9551000001_007":"What can be predicted with the Wells criteria?","589a246078275d0c4a00002a_032":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5157539ed24251bc0500008a_002":"Gene silencing can be achieved by RNA interference (RNAi) in eukaryotic organisms. What is the name of the analogous process in prokaryotic organisms?","54e0c3e71388e8454a000013_013":"Which enzyme is inhibited by Orteronel?","52fa6ac72059c6d71c000055_017":"Is the transcriptional regulator BACH1 an activator or a repressor?","550f0e4c6a8cde6b72000003_009":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","58cbb98c02b8c60953000034_039":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","550f0e4c6a8cde6b72000003_012":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","572096c90fd6f91b6800000e_002":"Which gene is involved in Giant Axonal Neuropathy?","54f1e031c409818c32000001_006":"DX-88 is investigational name of which drug?","5a774fdcfaa1ab7d2e000008_024":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","530cf4e0c8a0b4a00c000006_004":"Which is the most common cause of sudden cardiac death in young athletes?","5a9dad764e03427e73000007_001":"What is the preDIVA clinical trial?","5324a8ac9b2d7acc7e000018_031":"What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?","52bf1b0a03868f1b06000009_007":"What is the mode of inheritance of Wilson's disease?","5891f9e549702f2e01000002_042":"Willis-Ekbom disease is also known as?","5710a592cf1c32585100002a_011":"Which metabolite activates AtxA?","5717dbfe7de986d80d000001_011":"What is the functional role of the protein Drp1?","58d8e6818acda3452900000a_025":"Which gene mutations cause the Marfan syndrome?","550f0e4c6a8cde6b72000003_008":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5ac725250340b9f058000006_003":"Which miRNA is associated with the circular RNA ciRS-7?","52b2e498f828ad283c000010_002":"Mutation of which gene is associated with Achondroplasia?","55242d512c8b63434a000006_025":"Which receptors can be evaluated with the [18F]altanserin?","589d965a78275d0c4a000049_003":"Which polymerase transcribes pri-miRNAs?","530cf4c54a5037880c000008_009":"What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?","58bca2f302b8c6095300000c_008":"What chromosome is affected in Turner's syndrome?","530cefaaad0bf1360c000012_021":"Which deficiency is the cause of restless leg syndrome?","56b330bb39c782df06000001_004":"Which R\/bioconductor package is used for integrative genomics visualizations?","56b1f4300a360a5e4500001b_002":"Which peptide plays a pivotal role in human cystatin C fibrillization?","572096c90fd6f91b6800000e_003":"Which gene is involved in Giant Axonal Neuropathy?","5a774fdcfaa1ab7d2e000008_013":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","52fa6ac72059c6d71c000055_020":"Is the transcriptional regulator BACH1 an activator or a repressor?","55032efde9bde69634000035_006":"Which receptor is targeted by telcagepant?","58e9e7aa3e8b6dc87c00000d_018":"Which is the major RNA editing enzyme in Drosophila melanogaster?","51585b28d24251bc0500008d_018":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","552421082c8b63434a000005_001":"What is the enzymatic activity of the breast cancer associated gene BRCA1?","56d860ad51531f7e33000002_009":"Which syndrome is NHE6 associated with?","55200c606b348bb82c000013_016":"Which clotting factor is inhibited by betrixaban?","5353aedb288f4dae47000006_031":"Which is the transcript responsible for X-chromosome inactivation?","56bc751eac7ad10019000013_007":"Name synonym of Acrokeratosis paraneoplastica.","5ace19420340b9f05800000a_021":"Which gene is responsible for red hair?","530cf4e0c8a0b4a00c000006_010":"Which is the most common cause of sudden cardiac death in young athletes?","56b7083376d8bf8d13000001_002":"What is the causative agent of the \"Panama disease\" affecting bananas?","5890fde5621ea6ff7e000009_002":"Borden classification is used for which disease?","5895bc397d9090f35300000b_023":"Mutation of which gene is implicated in the Christianson syndrome?","550f0e4c6a8cde6b72000003_033":"Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4?","5ace238e0340b9f05800000d_013":"Which human chromosome is the product of fusion?","514a0a57d24251bc05000051_017":"Which drug should be used as an antidote in benzodiazepine overdose?","5a6a3464b750ff4455000026_010":"Which algorithm has been developed in order to improve multiple circular sequence alignment using refined sequences?","5506c3e38e1671127b00000a_016":"The small molecule SEA0400 is an inhibitor of which ion antiporter\/exchanger?","56f961b3cf1c325851000003_002":"What is the color of the protein Ranasmurfin?","55200c606b348bb82c000013_009":"Which clotting factor is inhibited by betrixaban?","5a6f960fb750ff445500005c_012":"Centor criteria are used for which disease?","5540fbce234c5a7c75000001_001":"Which autophagy pathway is trigered by the KFERQ motif of cytosolic proteins?","58bc8e7a02b8c60953000007_007":"What is plantar fasciitis","56c1f020ef6e394741000047_018":"Which disorder is rated by Palmini classification?","5710a592cf1c32585100002a_002":"Which metabolite activates AtxA?","572096c90fd6f91b6800000e_011":"Which gene is involved in Giant Axonal Neuropathy?","5a774fdcfaa1ab7d2e000008_016":"Which protein is regulated by Tudor interacting repair regulator (TIRR)?","532dcfc9d6d3ac6a34000021_006":"What is the characteristic domain of histone methyltransferases?","514a0a57d24251bc05000051_048":"Which drug should be used as an antidote in benzodiazepine overdose?","52bf1b0a03868f1b06000009_006":"What is the mode of inheritance of Wilson's disease?","5a4df811966455904c00000e_015":"Which RNA polymerase II subunit carries RNA cleavage activity?","58aa0c6f396a458e50000008_002":"Which is the \"bonding hormone\"?","56c3184050c68dd416000003_007":"What is the indication for isradipine?","589185cc621ea6ff7e00000b_017":"Which disease is treated with Nusinersen?","516e7fda298dcd4e51000081_001":"Which is the methyl donor of histone methyltransferases?","5519113b622b19434500000f_003":"Which gene is responsible for the development of the Mowat-Wilson syndrome?","58eb99f3eda5a57672000009_003":"Do origins of replication close to yeast centromeres fire early or late?","58d8e6818acda3452900000a_015":"Which gene mutations cause the Marfan syndrome?","58cbb98c02b8c60953000034_027":"Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?","56cf3f4f3975bb303a000008_002":"Which is the chromosomal location of the gene MAOA?","589a246078275d0c4a00002a_020":"Which drug was tested in the TEMSO Trial for multiple sclerosis?","5abcf010fcf4565872000023_004":"What nerve is involved in carpal tunnel syndrome?","51585b28d24251bc0500008d_009":"Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation?","551fd9c06b348bb82c000012_026":"ROSIER scale is used for which disorder?","5353aedb288f4dae47000006_005":"Which is the transcript responsible for X-chromosome inactivation?","56ecfd572ac5ed1459000002_010":"How is oprozomib administered?","5353aedb288f4dae47000006_030":"Which is the transcript responsible for X-chromosome inactivation?","5a7877c0faa1ab7d2e00000c_009":"What is the first line treatment for sarcoidosis?","56bc7d71ac7ad10019000018_002":"Which disease can be treated with Delamanid?","58e7902b3e8b6dc87c000007_003":"Which is the most common gene signature in Rheumatoid Arthritis patients?","5a742d620384be9551000002_017":"Which disease risk can be estimated with the Stop-Bang questionnaire?"},"context":{"58a57f9460087bc10a00001f_030":"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)","514a0a57d24251bc05000051_012":"Incremental intravenous bolus injections of flumazenil 0.1 to 0.3 mg are the most effective and well tolerated in the diagnosis and treatment of pure benzodiazepine overdose; additional boluses or an infusion (0.3 to 0.5 mg\/h) can be given to prevent patients from relapsing into coma.","5a74e9ad0384be955100000a_002":"SERM is the abbreviation of the selective estrogen receptor modulator","51585b28d24251bc0500008d_011":"While DNMT3a is mostly involved in de novo methylation, DNMT1 acts as a maintenance methyltransferase.","51585b28d24251bc0500008d_008":"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.","5ac0a82d19833b0d7b000003_001":"Biweekly intravenous (i.v.) administration of the PPMO restored the dystrophin expression in nearly 100% skeletal muscle fibers in all age groups. This was associated with the restoration of dystrophin-associated proteins including functional glycosylated dystroglycan and neuronal nitric synthase. However, therapeutic outcomes clearly depended on severity of the disease at the time the treatment started.","56bc77a3ac7ad10019000015_006":"WHO anticipates that the RTS,S\/AS01 vaccine will be recommended for the 6-14 week age group for co-administration together with other vaccines as part of routine immunization programs in malaria endemic countries.","5a6f960fb750ff445500005c_011":"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.","58a57f9460087bc10a00001f_004":"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. ","5a8980d2fcd1d6a10c00000d_002":"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.","54df695b1388e8454a000004_016":"Regional and global metabolic rates for glucose (rCMRGlc and GMR) were estimated using [18F]fluorodeoxyglucose and positron emission tomography in 3 patients with Filipino X-linked dystonia-parkinsonism (lubag). ","550af222c2af5d5b7000000b_001":"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. ","5710e131a5ed216440000001_002":"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","58f3ca5c70f9fc6f0f00000d_003":"Fusarium graminearum is a ubiquitous pathogen of cereal crops, including wheat, barley, and maize","58a32efe60087bc10a000013_056":"methicillin resistant Staphylococcus aureus (MRSA CC398) ","58a32efe60087bc10a000013_015":"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.","56b1f4300a360a5e4500001b_004":"the (47)LQVVR(51) peptide seems to have an important role in HCC fibrillization.","58861d413b87a8a738000002_004":"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)","52f89fc62059c6d71c000050_006":"We show that CLN3 mRNA and protein are overexpressed in glioblastoma (U-373G and T98g), neuroblastoma (IMR-32 and SK-N-MC), prostate (Du145, PC-3, and LNCaP), ovarian (SK-OV-3, SW626, and PA-1), breast (BT-20, BT-549, and BT-474), and colon (SW1116, SW480, and HCT 116) cancer cell lines but not in pancreatic (CAPAN and As-PC-1) or lung (A-549 and NCI-H520) cancer cell lines.","5880dba9c872c95565000009_008":"Three selective CDK4\/6 inhibitors, palbociclib (Ibrance; Pfizer), ribociclib (Novartis), and abemaciclib (Lilly), are in various stages of development in a variety of pRb-positive tumor types, including breast cancer, melanoma, liposarcoma, and non-small cell lung cancer. ","54e0c3e71388e8454a000013_014":"In summary, orteronel potently inhibited the 17,20-lyase activity of monkey and human CYP17A1 and reduced serum androgen levels in vivo in monkeys","55200c606b348bb82c000013_007":"Examples of direct factor Xa inhibitors include apixaban, rivaroxaban, otamixaban, betrixaban and edoxaban. ","5321bc309b2d7acc7e00000d_001":"PI3K-\u03b4 inhibitor idelalisib","5880b073c872c95565000003_007":"Andexanet alfa is a specific reversal agent for Factor Xa inhibitors.","54e1bdacae9738404b000009_005":"Duavee, an oral contraceptive; riociguat (Adempas) for two types of pulmonary hypertension; and macitentan (Opsumit) for pulmonary arterial hypertension.","54f89e1a06d9727f76000001_002":"NE-induced MAP kinase and cPLA2 activation was also inhibited in cells treated with a CaM kinase II inhibitor, KN-93, or with CaM kinase II antisense oligonucleotide. ","56bb68f9ac7ad1001900000b_005":"Phthiriasis palpebrarum is an infestation of the eyelashes caused by the louse Pthirus pubis (Linnaeus, 1758). We report a case of phthiriasis palpebrarum in a 6-year-old girl, which was initially misdiagnosed as allergic blepharoconjunctivitis.","5a79d0b8faa1ab7d2e00000d_013":"We uncover a dual regulatory role for chromatin during DNA replication: promoting origin dependence and determining Okazaki fragment length by restricting Pol \u03b4 progression.","5a6f853ab750ff4455000055_005":"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.","571f5c150fd6f91b68000009_003":"In eukaryotes, frataxin deficiency (FXN) causes severe phenotypes including loss of iron-sulfur (Fe-S) cluster protein activity, accumulation of mitochondrial iron and leads to the neurodegenerative disease Friedreich's ataxia","5a7237672dc08e987e000008_001":"So far only one reversal agent has been approved by the Food and Drug Administration (FDA), idarucizumab for one of the DOACs i.e., dabigatran. ","56c8274f5795f9a73e00000d_001":"Activation of microglia, CNS resident immune cells, is a pathological hallmark of amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder affecting motor neurons.","551c23bc6b348bb82c00000b_005":"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.","5884c72fe56acf517600000f_005":"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.","58af1cb3717cd3f655000003_002":"Autosomal XX sex reversal caused by duplication of SOX9.","5a68f005b750ff4455000016_006":"Borderline Personality Disorder (BPD) is characterized by affective instability, but self-injurious behavior appears to have an emotion-regulating effect. We investigated whether pain-mediated affect regulation can be altered at the neural level by residential Dialectical Behavior Therapy (DBT), providing adaptive emotion regulation techniques. ","589635dd78275d0c4a000009_005":"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).","531464a6e3eabad021000014_019":"Despite documented McLeod phenotype on RBCs, and identified mutations of XK, neurologic and other clinical findings were minimal at ages expected to manifest MLS. ","5a679e8cb750ff4455000006_003":"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. ","5506c3e38e1671127b00000a_034":"The effects of SEA0400, a selective inhibitor of the Na(+)\/Ca(2+) exchanger (NCX), on Na(+)-dependent Ca(2+) uptake and catecholamine (CA) release were examined in bovine adrenal chromaffin cells that were loaded with Na(+) by treatment with ouabain and veratridine. SEA0400 inhibited Na(+)-dependent (45)Ca(2+) uptake and CA release, with the IC(50) values of 40 and 100 nM, respectively.","5149f494d24251bc0500004c_001":"Opioid overdose has a high mortality, but is often reversible with appropriate overdose management and naloxone (opioid antagonist). ","530cefaaad0bf1360c00000d_003":"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. ","58f89eb270f9fc6f0f00001a_001":"The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.","511a3573df1ebcce7d000018_005":"The tissue kallikrein gene family consists of 15 genes tandemly arranged on human chromosome 19q13.4.","58e9e7aa3e8b6dc87c00000d_011":"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","58a2e5f760087bc10a000007_014":"Partial colocalization was observed between ATP13A2 and \u03b1-synuclein in Lewy bodies, whereas ATP13A2 did not colocalize with pathological \u03b2-amyloid deposition.Our data show that patients with Lewy body diseases have an overall deficit in ATP13A2 protein levels, with the remaining protein being more insoluble and partially redistributing towards Lewy bodies","5506c3e38e1671127b00000a_037":"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.","55032e65e9bde69634000034_008":"Dyke Davidoff Masson syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18-month-old girl who presented with right sided focal seizures, hemiparesis of the same side, and delayed milestones.","5ace37d50340b9f058000011_005":"When the two studies using fluconazole as the intervention were analyzed together (N=518), the incidence of cryptococcal disease was decreased in those taking fluconazole for primary prophylaxis (RR 0.25, 95% CI 0.07, 0.87) compared to those taking placebo; however, there was no significant difference in overall mortality (RR 0.59, 95% CI 0.14, 2.62).<br><b>AUTHORS' CONCLUSIONS<\/b>: Antifungal primary prophylaxis with either itraconazole or fluconazole is effective in reducing the incidence of cryptococcal disease in adults with advanced HIV disease.","58e3d9ab3e8b6dc87c000002_001":" Prader-Willi syndrome (PWS) results from a deletion of the paternal genes in the region of chromosome 15q11-q13.","56c8f4615795f9a73e00001a_001":"GBshape: a genome browser database for DNA shape annotations.","56bdc79bef6e394741000001_002":"The Athens Protocol to arrest keratectasia progression and improve corneal regularity demonstrates safe and effective results as a keratoconus management option. Progressive potential for long-term flattening validates using caution in the surface normalization to avoid overcorrection.","56c1f020ef6e394741000047_012":"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.","588f8e9794c1512c50000005_001":"methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles.","55475dc2f35db75526000001_009":"Botulinumtoxin (BTX) is a neurotoxin produced from Clostridium botulinum under anaerobic conditions and is responsible for botulism, a notifiable, bacterial form of food poisoning.","514a0a57d24251bc05000051_041":"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.","54cf45e7f693c3b16b00000a_003":"Calsequestrin is the major calcium-binding protein of cardiac and skeletal muscles whose function is to sequester Ca(2+ )in the lumen of the sarcoplasmic reticulum (SR).","58dcb47c8acda34529000020_001":"Myc has an N-terminal transcription activation domain (TAD) that interacts with various coactivators and a C-terminal basic-helix-loop-helix-leucine zipper (bHLHZip) domain required for E box-specific DNA-binding and heterodimerization with its obligatory bHLHZip protein partner Max. ","55421ee7ccca0ce74b000002_001":"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.","5506c3e38e1671127b00000a_008":"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.","550f0e4c6a8cde6b72000003_003":"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.","57136a7e1174fb1755000006_002":"Considerable 97.3% sensitivity and 97.3% specificity were obtained in fetal gender determination which is significant in the first trimester of pregnancy.","51405cd123fec90375000005_002":"Anderson-Fabry disease (referred to as Fabry disease) is an X-linked disorder characterized by a deficiency of the lysosomal enzyme alpha-galactosidase A and the subsequent accumulation in various tissues of globotriaosylceramide (Gb(3)), the main substrate of the defective enzyme.","531464a6e3eabad021000014_062":"Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.","5886519c3b87a8a738000007_001":"In all 333 patients microsurgical vestibular schwannoma (Koos grade 1: 12, grade 2: 34, grade 3: 62, and grade 4: 225) removal was performed.","54cf45e7f693c3b16b00000a_004":"Calsequestrin is a calcium-binding protein known to sequester calcium accumulated in the sarcoplasmic reticulum (SR) of muscle cells during relaxation. ","587f7a69d8d850a152000001_010":"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.","5353aedb288f4dae47000006_013":"The process is mediated by the non-coding RNA X inactive specific transcript (Xist) that binds in cis and propagates along the inactive X chromosome elect, triggering chromosome-wide silencing","56c1f00cef6e39474100003e_003":"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","51585b28d24251bc0500008d_006":"Thus, differential expression of CTCF and DNMT1 and -3B is not critical for maintenance of restricted latency.","5710a592cf1c32585100002a_013":"We identified two major apparent transcriptional start sites, designated P1 and P2, located at positions 731 bp and 625 bp, respectively, upstream of the translation-initiation codon of capB. Transcription initiated from P1 and P2 was activated by both atxA and acpA, and activation appeared to be stimulated by bicarbonate.","5a7877c0faa1ab7d2e00000c_005":"While corticosteroids remain the first line of treatment, tumour necrosis factor alpha (TNF-\u03b1) inhibitors have been investigated as one potential steroid sparing treatment for sarcoidosis.","52fa6ac72059c6d71c000055_002":"transcriptional repressor Bach-1, ","5547a01cf35db75526000005_001":"Microsporidia are a diverse group of obligate, intracellular, eukaryotic, spore-forming parasites. Traditionally, these were considered as protozoans but recently have been reclassified as fungi. ","56d1f790f22319765a000001_003":"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. ","53318685d6d3ac6a3400003d_001":"AD has an autosomal dominant mode of inheritance, distinct facial and skeleton features (a hoarse voice and internal notch of the femoral head).","5118dd1305c10fae75000001_002":"Our results show a high prevalence of RA in LAC women with a ratio of 5.2 women per man","5ace238e0340b9f05800000d_014":"We investigate the most recent product of a chromosome fusion event fixed in the human lineage, human chromosome 2, whose stability was acquired by the suppression of one centromere, resulting in a unique difference in chromosome number between humans (46 chromosomes) and our most closely related ape relatives (48 chromosomes).","5717dbfe7de986d80d000001_015":"Functional analysis demonstrated that BNIP1 expression increased dynamin-related protein 1 (Drp1) expression followed by the mitochondrial translocation of Drp1 and subsequent mitochondrial fission","530cf4e0c8a0b4a00c000006_003":"Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young people, including trained athletes.","531464a6e3eabad021000014_034":"McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.","5319ac99b166e2b806000034_003":"Like the other TSC-TBC components, TBC1D7 knockdown results in increased mTORC1 signaling, delayed induction of autophagy, and enhanced cell growth under poor growth conditions.","514a0a57d24251bc05000051_021":"Flumazenil, a specific benzodiazepine antagonist, was evaluated as adjunctive therapy in the management of benzodiazepine overdose.","5509c52f1180f13250000004_001":"Hyperosmia is increased olfactory acuity","5325fdf0600967d132000001_003":"BAUS implantation is a safe, effective, minimally invasive option for iatrogenic male incontinence due to ISD. It compares favourably with AUS.","5343fc1aaeec6fbd07000003_024":" genes mutated in these two disorders encode tumor suppressor proteins, termed neurofibromin (NF1)","51585b28d24251bc0500008d_001":"his defect does not appear in mouse models with mutations in Dnmt3a and Mthfr genes and, therefore, it is specific for the Dnmt1 gene and is suggestive of a role of DNMT1 in imprint resetting or maintenance in the male germ line.","5ab90a79fcf456587200001b_001":"Spinal epidural hematomas are rare entity in neurosurgery practice. Most of them are spontaneous due to anticoagulant therapy and called spontaneous spinal epidural hematomas (SSEHs).","54e0d1491388e8454a000014_006":"Evolocumab, a monoclonal antibody to proprotein convertase subtilisin\/kexin type 9 (PCSK9), reduced LDL cholesterol by 16% in a pilot study. ","5ace238e0340b9f05800000d_019":"Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.","5324a8ac9b2d7acc7e000018_010":"Since the initial approval of imatinib much has been learned about its resistance mechanisms, and efforts have continued to improve upon BCR-ABL tyrosine kinase inhibitor therapy.","530cefaaad0bf1360c00000d_015":" 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.","55200c606b348bb82c000013_013":"Two direct factor Xa inhibitors are emerging from phase II trials (betrixaban and YM150) and three are being evaluated in phase III trials (apixaban, edoxaban, and rivaroxaban) for the prevention of stroke and systemic emboli in patients with atrial fibrillation. ","54df695b1388e8454a000004_005":"\"Lubag\" or X-linked dystonia-parkinsonism (XDP) is a genetic syndrome afflicting Filipino men.","56ed03862ac5ed1459000004_010":"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. ","55032e65e9bde69634000034_001":"Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures.","55421ee7ccca0ce74b000002_037":"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","5880b073c872c95565000003_004":"Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly.","56d1f790f22319765a000001_010":"The T790M mutation in EGFR accounts for approximately half of all lung cancer cases with acquired resistance to the current clinical EGFR tyrosine kinase inhibitors.","55421ee7ccca0ce74b000002_033":"p53, sometimes referred to as the \"guardian of the genome,\" helps regulate cell-cycle arrest, DNA-damage repair, apoptosis, and senescence.","58b56fe422d3005309000007_007":"The dorsal neural tube first generates neural crest cells that exit the neural primordium following an epithelial-to-mesenchymal conversion to become sympathetic ganglia, Schwann cells, dorsal root sensory ganglia, and melanocytes of the skin.","56c048acef6e39474100001c_006":"We evaluated the effect of the telomerase inhibitor imetelstat in preclinical models of MRT. ","531464a6e3eabad021000014_039":"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.","5a6f853ab750ff4455000055_001":"Inter-observer reproducibility of diagnosis of diabetic foot osteomyelitis based on a combination of probe-to-bone test and simple radiography.","56c1f020ef6e394741000047_025":"in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized.Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe.Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children.","571f609c0fd6f91b6800000c_001":"GM1 and GM2 gangliosidosis are associated with deficiency of \u03b2-galactosidase and \u03b2-hexosaminidase respectively","55032e65e9bde69634000034_017":"Imaging showed resolution of the infection and features of Dyke-Davidoff-Masson syndrome (cerebral hemiatrophy).","55032e65e9bde69634000034_011":"Although radiological findings of cerebral hemiatrophy (Dyke-Davidoff-Masson Syndrome) are well known, there is no systematic study about the gender and the affected side in this syndrome.","5717dbfe7de986d80d000001_008":"These results collectively indicate that ER-specific BNIP1 plays an important role in mitochondrial dynamics by modulating the mitochondrial fission protein Drp1 in a BH3 domain-dependent fashion.","58b56fe422d3005309000007_003":"Melanocytes and Schwann cells are derived from the multipotent population of neural crest cells.","5324a8ac9b2d7acc7e000018_052":"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_002":" 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.","5149f494d24251bc0500004c_014":"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. ","571e12097de986d80d000017_005":"Efficacy and safety of empagliflozin, a sodium glucose cotransporter 2 (SGLT2) inhibitor, as add-on to metformin in type 2 diabetes with mild hyperglycaemia.","5a690487b750ff445500001f_002":"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.","56ecfd572ac5ed1459000002_008":"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. ","571e12097de986d80d000017_017":"The SGLT2 inhibitor empagliflozin ameliorates early features of diabetic nephropathy in BTBR ob\/ob type 2 diabetic mice with and without hypertension.","571f5c150fd6f91b68000009_007":"Friedreich's ataxia (FRDA), an autosomal recessive cardio- and neurodegenerative disease, is caused by low expression of frataxin, a small mitochondrial protein, encoded in the nucleus.","514a0a57d24251bc05000051_029":"In the setting of isolated benzodiazepine overdose, flumazenil is capable of completely reversing coma within one to two minutes, with this effect lasting between one and five hours.","58b56fe422d3005309000007_008":"We show here that neural crest cells arising from the neural tube located at the level of somites 47-53 can differentiate both in vitro and in vivo into melanocytes and Schwann cells but not into neurons.","5a690487b750ff445500001f_004":"Monospot test was positive. He subsequently had both a CT pulmonary angiogram and a CT angiogram of the aorta to exclude pulmonary embolism and aortic dissection. The CT revealed splenomegaly with a large subdiaphragmatic haematoma secondary to splenic rupture. This had likely caused referred pain through diaphragmatic irritation. He was taken to theatre for urgent splenectomy. The unifying diagnosis was infectious mononucleosis complicated by spontaneous splenic rupture secondary to Epstein-Barr virus infection.","55200c606b348bb82c000013_018":"Betrixaban is a novel oral factor Xa inhibitor administered once daily, mostly excreted unchanged in the bile and with low (17%) renal excretion.","58adc1ff9ef3c34033000006_001":"A transcription-independent role for TFIIB in gene looping.","54db62a3034aea571d000001_006":"Calcium is actively accumulated in the endoplasmic reticulum by Sarco\/Endoplasmic Reticulum Calcium transport ATPases (SERCA enzymes).","58d8e6818acda3452900000a_027":"Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause Marfan syndrome (MFS)","589a246078275d0c4a00002a_022":"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.","54f89e1a06d9727f76000001_001":"NE-induced MAP kinase and cPLA2 activation was also inhibited in cells treated with a CaM kinase II inhibitor, KN-93, or with CaM kinase II antisense oligonucleotide. ","571f5e740fd6f91b6800000b_002":"Gaucher disease is an inborn recessive autosomal disease due to a partial deficiency of the lysosomal enzyme beta glucocerebrosidase. The deficient activity leads to accumulation of the lipid glucocerebroside in the liver, the spleen and bone marrow with concomitant anemia and thrombocytopenia","5895f18ce370baff39000001_001":" 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.","5710a592cf1c32585100002a_004":"Comparison of the resulting protein patterns indicated that synthesis of non-toxin proteins is influenced by growth in elevated CO2 and the toxin gene regulator, atxA. ","56cafa845795f9a73e00002e_001":"The mTOR pathway controls cell proliferation by regulating the FoxO3a transcription factor via SGK1 kinase","5149f494d24251bc0500004c_010":"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. ","514a51c2d24251bc0500005c_001":"Prolactinoma is the most common secreting pituitary adenoma. It is typically diagnosed in women of reproductive age and is common cause of infertility.","536e46f27d100faa09000012_005":"ay-Sachs disease is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A","58861d413b87a8a738000002_012":"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. ","530cefaaad0bf1360c000012_014":"The pathogenesis of RLS probably involves the interplay of systemic or brain iron deficiency and impaired dopaminergic neurotransmission in the subcortex of the brain. ","5ace37d50340b9f058000011_011":"BACKGROUND Cryptococcal meningitis is a common opportunistic infection in Human Immunodeficiency Virus (HIV)-infected individuals.","550342a8f8aee20f27000002_005":"Mutations in SCN1A gene, encoding the voltage-gated sodium channel \u03b11-subunit, are found to be associated with severe myoclonic epilepsy in infancy or Dravet syndrome (DS), but only rarely with the myoclonic astatic epilepsy (MAE, or Doose syndrome). ","589317e849702f2e01000005_004":"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.","58cbb98c02b8c60953000034_038":"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","530cf4c54a5037880c000008_016":"Small molecule inhibitors of BCR signaling kinases, Bruton's tyrosine kinase (Btk) inhibitor ibrutinib and the phosphoinositide 3'-kinase delta (PI3K\u03b4) inhibitor GS-1101, are currently transforming the landscape of CLL therapy. ","55242d512c8b63434a000006_018":"These findings support the usefulness of [18F]altanserin as a radioligand for PET studies of 5-HT2A receptors.","5895bc397d9090f35300000b_019":"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.","56c1f020ef6e394741000047_009":"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.","55421ee7ccca0ce74b000002_018":"The tumor suppressor p53 is the most frequently mutated gene in human cancer and is often referred to as the \"guardian of the genome\".","5880e417713cbdfd3d000001_001":"During the latest outbreak of Ebola virus disease in West Africa, monoclonal antibody therapy (e.g., ZMapp) was utilized to treat patients. ","589635dd78275d0c4a000009_002":"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).","5a68f448b750ff4455000018_013":"erythrasma is a superficial cutaneous infection caused by corynebacterium minutissimum and is characterized by fluorescence under wood s light uv because of the presence of porphyrins these molecules are photosensitizing and we propose to assess efficacy of red light that activates porphyrins photodynamic reaction in treatment of this pathology assessment of effects of photodynamic action of red light for treatment of erythrasma without exogenous photosensitizing molecules thirteen patients with erythrasma were treated by one illumination 80 j cm2 by red light broad band peak at 635 nm without exogenous photosensitizing molecules disappearance or reduction of extent of lesions were observed 2 weeks later if lesions were still present a second irradiation was conducted with the same method preliminary results are presented as a result of red light irradiation we noticed a complete recovery for three patients and in most other cases reduction of extent of lesions mean 29 after one session the treatment was well tolerated we report first cases of photodynamic treatment of erythrasma there are other reports of clinical applications of antimicrobial action of photodynamic therapy in dermatology acne vulgaris leishmaniasis warts etc but there are few applications without addition of exogenous photosensitizing agent the originality and interest of our study is to use spontaneous presence of porphyrins in the lesions this technique seems to be an interesting alternative inexpensive and easy for the treatment of this localized infection but an optimal method is still to be determined to improve efficacy.","5891c90949702f2e01000001_013":"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.","5a896c26fcd1d6a10c000007_016":"Ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia.","56c8f4615795f9a73e00001a_006":"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.","550f0e4c6a8cde6b72000003_043":"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.","58c9a8fe02b8c6095300002a_003":"Vanoxerine, a new drug for terminating atrial fibrillation and flutter.","531464a6e3eabad021000014_057":"We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome. ","5a68f448b750ff4455000018_012":"erythrasma is a superficial infection caused by corynebacterium minutissimum and affects the major skin folds and the interdigital regions of the feet it is characterized by erythematous brown scaly patches and maceration and exhibits coral red fluorescence under wood light the aim of this study was to determine the frequency of erythrasma in patients with interdigital lesions an open prospective longitudinal observational study was performed in a hospital in mexico city between march and december 2006 all patients with interdigital lesions were examined with a wood lamp and direct examination was performed with 20 potassium hydroxide cultures were done in sabouraud dextrose agar and brain heart infusion agar and smears were analyzed general characteristics and concomitant diseases were recorded we examined 73 patients of whom 24 32 8 were diagnosed with erythrasma based on coral red fluorescence under wood light and identification of corynebacteria by gram staining the disease was more common in women 83 33 and the mean age of the patients was 43 5 years the main clinical findings were scaling and maceration and the fourth interdigital web was the most commonly affected corynebacterium could not be isolated in any of the cases mycology was positive in 15 cases 62 5 and the following microorganisms were isolated candida 16 6 dermatophytes 12 5 and trichosporon 4 1 interdigital erythrasma is a common condition and can be easily confused with interdigital tinea it persists if not treated appropriately rapid diagnosis is easily obtained by examination with a wood lamp while culture is difficult and unnecessary for diagnosis the coexistence of erythrasma with dermatophytes and candida should be considered when the interdigital webs are affected.","5a9da59c4e03427e73000005_001":" To study the impact of genetic and lifestyle factors on protein biomarkers and develop personally normalized plasma protein profiles (PNPPP) controlling for non-disease-related variance.","530cf4c54a5037880c000008_012":"Ibrutinib: a novel Bruton's tyrosine kinase inhibitor with outstanding responses in patients with chronic lymphocytic leukemia.","52fe58f82059c6d71c00007a_008":"While multiple replication origins have been observed in archaea, considerably less is known about their evolutionary processes.","56d1f790f22319765a000001_001":"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. ","52bf1f1303868f1b06000014_005":"Importantly, we also demonstrate the antioxidant enzyme Prx2 (peroxiredoxin 2) as a critical cytoplasmic target of cdk5. ","5ab2cc66fcf4565872000015_001":"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","5891f9e549702f2e01000002_009":"Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is a sensorimotor disorder that can result in considerable sleep disruption","5880aef4c872c95565000001_027":"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.","54ede28094afd61504000003_002":"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.","530f900ee3eabad021000003_010":"AIM: Mutations in the SLC16A2 gene have been implicated in Allan-Herndon-Dudley syndrome (AHDS), an X-linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities.","58eb9542eda5a57672000007_022":"Cajal bodies (coiled bodies, CBs) are nuclear organelles of unknown function and are characterized by a wide variety of components including various basal transcription and cell cycle proteins, the nucleolar proteins fibrillarin and Nopp140, numerous small nuclear ribonucleoproteins, the survival motor neuron protein complex, and the marker protein, p80 coilin.","56c8f4615795f9a73e00001a_010":"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.","55200c606b348bb82c000013_021":"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.","55421ee7ccca0ce74b000002_021":"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.","5a6f960fb750ff445500005c_007":"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.","587e1bfdfc7e8dd84f000002_006":"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.","5353aedb288f4dae47000006_028":"X chromosome inactivation requires the presence, in cis, of the X inactivation center (XIC). The Xist gene, which lies within the XIC region in both human and mouse","52bf1f1303868f1b06000014_002":"We found that the antioxidant enzyme peroxiredoxin-2 (Prx2) inversely correlated with the metastatic capacity of human melanoma cells.","56cdf3e55795f9a73e00003c_002":"Heterodimeric Rag GTPases are required for amino-acid-mediated mTORC1 activation at the lysosome. ","58d8e6818acda3452900000a_038":"Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective tissue disorders (fibrillinopathies) that show autosomal dominant inheritance.","589a247078275d0c4a000035_026":"Transverse myelitis as an unexpected complication following treatment with dinutuximab in pediatric patients with high-risk neuroblastoma: A case series.","5a68f005b750ff4455000016_018":"Dialectical behavior therapy, an outpatient psychosocial treatment for chronically suicidal women with borderline personality disorder, has been adapted for use in a partial hospital program for women.","5a79d0b8faa1ab7d2e00000d_011":"Okazaki fragments that are intermediates during DNA replication.","56c1f01def6e394741000045_010":"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.","5545186cbf90a13052000002_020":"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","5a761ac3aacfb9cd4c000002_003":"Doege-Potter syndrome\u00a0is a paraneoplastic\u00a0syndrome\u00a0characterized by non-islet cell tumor hypoglycemia secondary to a solitary fibrous tumor. ","55032efde9bde69634000035_015":"Effect of the calcitonin gene-related peptide (CGRP) receptor antagonist telcagepant in human cranial arteries.","589a246078275d0c4a00002a_024":"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.","589d965a78275d0c4a000049_020":"Although it is assumed that miRNA promoters are similar in structure to gene promoters, since both are transcribed by RNA polymerase II (Pol II), computational validations exhibit poor performance of gene promoter prediction methods on miRNAs.","53357193d6d3ac6a34000047_008":" In patients treated with the JAK inhibitor tofacitinib, RR for hypercholesterolaemia was 1.70 (1.10 to 2.63) that was dose related. ","56c1d856ef6e394741000032_003":"Ficolin-3-mediated lectin complement pathway activation in patients with subarachnoid hemorrhage.","56ed03862ac5ed1459000004_014":" 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.","571e14fbbb137a4b0c000001_012":"Single-pill combination therapy for type 2 diabetes mellitus: linagliptin plus empagliflozin.","58e9e7aa3e8b6dc87c00000d_007":"we show that expression of the editing enzyme, ADAR (adenosine deaminase acting on RNA), is dramatically decreased at elevated temperatures, partially, but not fully, explaining some target responses to temperature. ","531464a6e3eabad021000014_048":"It is caused by mutations of the XK gene encoding the XK protein, a putative membrane transport protein of yet unknown function. ","552fac4fbc4f83e828000006_008":"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.","589185cc621ea6ff7e00000b_022":"Results from this study support continued development of nusinersen for treatment of SMA.","54f9b74306d9727f76000004_008":"In conclusion, JTV519, a new 1,4-benzothiazepine derivative, corrected the defective channel gating in RyR (increase in both the rapid conformational change and the subsequent Ca(2+) release rate) in HF.","52fa6ac72059c6d71c000055_022":"transcription repressor Bach1","54edf81f94afd61504000014_005":"We identified an interaction between the FA protein, FANCA and brm-related gene 1 (BRG1) product.","52bf1b0a03868f1b06000009_010":"Wilson's disease is a rare genetic disorder of copper metabolism with autosomal recessive inheritance.","5ace37d50340b9f058000011_013":"The incidence of cryptococcal meningitis has increased in parallel with that of HIV infection.","55200c606b348bb82c000013_011":"Recently developed anticoagulants include direct thrombin antagonists such as dabigatran or factor Xa inhibitors such as rivaroxaban, apixaban, betrixaban, and edoxaban. ","56c1f01def6e394741000045_001":"Orteronel plus prednisone in patients with chemotherapy-naive metastatic castration-resistant prostate cancer (ELM-PC 4): a double-blind, multicentre, phase 3, randomised, placebo-controlled trial.","5abbe429fcf456587200001c_005":"These specific substances directly block either thrombin (e.g., dabigatran etexilate) or Factor Xa (e.g., apixaban).","54f9b74306d9727f76000004_011":"A new 1,4-benzothiazepine derivative, JTV519 (JTV), has strong protective effects against isoproterenol-induced myocardial injury. ","55180ef46487737b43000006_023":"This contrasts to the situation in dermatitis herpetiformis, where both the rash and the enteropathy are gluten dependent.","5880b073c872c95565000003_045":"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.","5880b073c872c95565000003_015":"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.","5710e131a5ed216440000001_009":"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.","56cdf40d5795f9a73e00003d_002":"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.","54e0c3e71388e8454a000013_016":"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","58a2e5f760087bc10a000007_007":"Recently, the presynaptic protein alpha-synuclein was shown to be a major component of Lewy bodies and Lewy neurites.","5343fc1aaeec6fbd07000003_030":"patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene.","5ace12be0340b9f058000007_007":"Despite similarities in motor planning and execution between speech development and oral feeding competence, there have been no reports to date linking deletions within the FOXP2 gene to oral feeding impairments in the newborn.","5717d64f29809bbe7a000001_001":"The dynamin-related protein Opa1 is localized to the mitochondrial intermembrane space, where it facilitates fusion between mitochondria.","55054f8af73303d458000002_015":"Analysis of the collagen from 32 different mammal species identified a total of 92 peptide markers that could be used for species identification, for example, in processed food and animal feed.","5ace19420340b9f05800000a_015":"The melanocortin 1 receptor (MC1R): more than just red hair.","56c04412ef6e39474100001b_013":"elotuzumab which targets CS1 and daratumumab which targets CD38.","589d965a78275d0c4a000049_010":"Canonical primary microRNA (pri-miRNA) precursors are transcribed by RNA polymerase II and then processed by the Drosha endonuclease to generate approximately 60 nt pre-miRNA hairpins.","56bc77a3ac7ad10019000015_026":"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.","5a79d0b8faa1ab7d2e00000d_009":"Flap endonuclease 1 (FEN1) has been shown to remove 5' overhanging flap intermediates during base excision repair and to process the 5' ends of Okazaki fragments during lagging-strand DNA replication in vitro.","530cefaaad0bf1360c00000d_010":"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.","56bc77a3ac7ad10019000015_002":"Until now, only one candidate malaria vaccine RTS,S\/AS01 has shown modest protection in phase 3 trial in African infants. ","531464a6e3eabad021000014_046":"Investigation of the patient's XK gene revealed a novel TGG- to-TAG transition at position 1023 in exon 3. ","531464a6e3eabad021000014_026":"Case 1 has greater than 1.12 million base-pairs (mb) deletion around the XK locus with 7 genes affected.","5895f7e978275d0c4a000001_008":"An acute illness (Jamaican vomiting sickness) which affected two adults after eating unripe ackee fruit was investigated","56cdf5315795f9a73e000046_001":"The removal of the 5'-cap structure by the decapping enzyme DCP2 and its coactivator DCP1 shuts down translation and exposes the mRNA to 5'-to-3' exonucleolytic degradation by XRN1","531464a6e3eabad021000014_050":"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.","55203ae78e534a4535000001_003":"Human psoriasin (S100A7) has originally been described as a member of the family of S100 calcium-binding proteins which is overexpressed in patients suffering from psoriasis. ","530cefaaad0bf1360c00000d_020":"However, abnormalities of the hypothalamic-pituitary-thyroid (HPT) axis and thyroid dysgenesis have been found in other WS cases. ","5343fc1aaeec6fbd07000003_037":"An NF1 gene was identified as a gene whose loss of function causes an onset of human disorder, neurofibromatosis type I.","514a0a57d24251bc05000051_013":"Flumazenil is a competitive benzodiazepine antagonist that acts to reverse their sedative and hypnotic effects. It is indicated in the management of benzodiazepine overdose, but its role in the routine reversal of endoscopic conscious sedation has not been defined.","56e2acfe51531f7e33000014_001":"Sister chromatid cohesion is mediated by cohesin, but the process of cohesion establishment during S-phase is still enigmatic.","5519113b622b19434500000f_002":"Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.","5ac725250340b9f058000006_006":"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. ","533ea8fcc45e133714000010_018":"We report a detailed experimental study of the secondary structures of the SECIS elements ","51651e24298dcd4e51000054_001":"Within a project aimed at discovering new Flaviviridae inhibitors, new variously substituted 2-phenylbenzimidazoles were synthesized and evaluated in cell-based assays for cytotoxicity and antiviral activity against viruses representatives of the three genera of the Flaviviridae family, i.e.: Pestivirus (BVDV), Flavivirus (YFV) and Hepacivirus (HCV).","5118dd1305c10fae75000001_005":" men (n = 67) and women (n = 225)","550ea8f1b305b40c5c000005_008":"CONCLUSIONS: Our findings suggest that pridopidine induces metabolic changes in brain regions implicated as important for mediating compensatory mechanisms in Huntington disease. In addition, the finding of a strong relationship between clinical severity and metabolic activity after treatment also suggests that pridopidine treatment targets a Huntington disease-related metabolic activity pattern.","58e9e7aa3e8b6dc87c00000d_006":"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.","5519113b622b19434500000f_029":"Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene","5547a01cf35db75526000005_010":"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.","51405cd123fec90375000005_003":"Human alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A) is the lysosomal exoglycosidase responsible for the hydrolysis of terminal alpha-galactosyl residues from glycoconjugates and is the defective enzyme causing Fabry disease (McKusick 301500).","5545186cbf90a13052000002_002":"transcription-coupled repair (TCR) provides faster repair of the transcribed strand of active genes.","5891f9e549702f2e01000002_008":"Restless legs syndrome (RLS), also known as Willis-Ekbom Disease (WED), is a sensorimotor disorder for which the exact pathophysiology remains unclear","58d8e6818acda3452900000a_019":"Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder.","56c079b1ef6e394741000022_012":"We examined the efficacy of idarucizumab, an antibody fragment binding to dabigatran, in a mouse model of OAC-ICH. ","5895f7e978275d0c4a000001_001":"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. ","5540b9800083d1bf0e000002_007":"Influence of lateral association on forced unfolding of antiparallel spectrin heterodimers.","56ffdc1ccf1c32585100000b_006":"It occurs in a wide variety of eukaryotic organisms and in some viruses. 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.","5324a8ac9b2d7acc7e000018_054":"IM) binds to the BCR-ABL protein","56bc77a3ac7ad10019000015_034":"the RTS,S\/AS01 vaccine candidate represents the most developed and clinically validated malaria vaccine formulation.","5a7234352dc08e987e000007_009":"a 54 year old man presented with change in behaviour nocturnal enuresis abnormal limb movement and headache of one week s duration the diagnosis of butterfly glioma glioblastoma multiforme was made based on imaging characteristics and was further confirmed by biopsy findings as the corpus callosum is usually resistant to infiltration by tumours a mass that involves and crosses the corpus callosum is suggestive of an aggressive neoplasm other neoplastic and non neoplastic conditions that may involve the corpus callosum and mimic a butterfly glioma as well as associated imaging features are discussed.","56c1f00cef6e39474100003e_002":"This Phase IIb safety study (AleNephro) in patients with stage 3 chronic kidney disease and type 2 diabetes, evaluated the renal effects of aleglitazar, a balanced peroxisome proliferator-activated receptor-\u03b1\/\u03b3 agonist","58f4b25e70f9fc6f0f000011_002":"No additional alleles outside those associated with liver injury patterns were found to affect potential severity as measured by Hy's Law criteria.","54f9b74306d9727f76000004_006":"A derivative of 1,4-benzothiazepine (JTV519) increased the affinity of calstabin2 for RyR2, which stabilized the closed state of RyR2 and prevented the Ca2+ leak that triggers arrhythmias.","587f7a69d8d850a152000001_005":"Fixed-length approximate string matching is a generalisation of the classic approximate string matching problem. We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching. The extensive experimental results presented here suggest that other applications could benefit from using libFLASM, and thus further maintenance and development of libFLASM is desirable","5a7877c0faa1ab7d2e00000c_003":"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.<br>","5a68f005b750ff4455000016_009":"The authors describe the use of dialectical behavior therapy (DBT) in treating borderline personality disorder during psychiatry residency, and assess the status of DBT education within psychiatry residencies in the United States.","56d1f790f22319765a000001_014":"To overcome T790M-mediated acquired resistance of lung cancer cells to epidermal growth factor receptor tyrosine kinase inhibitors (EGFR TKIs), second generation ","54f9b74306d9727f76000004_002":"The 1,4-benzothiazepine derivative JTV519, and the more specific derivative S107 (2,3,4,5,-tetrahydro-7-methoxy-4-methyl-1,4-benzothiazepine), are thought to improve skeletal muscle function by stabilizing the RyR1-FKBP12 complex.","53357ca0d6d3ac6a3400004b_008":"Fostamatinib (R788) is a prodrug rapidly converted to its active metabolite on oral administration. This (known as R406) is a potent inhibitor of spleen tyrosine kinase, required for the expression of a number of proinflammatory cytokines. ","5891f9e549702f2e01000002_011":"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","5313058de3eabad02100000e_002":"Patients with Bertolotti's syndrome have characteristic lumbosacral anomalies and often have severe sciatica. ","532dcfc9d6d3ac6a34000021_010":"methyl group transfers by SET domain protein lysine methyltransferases.","5880b073c872c95565000003_040":"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.","5a87ea1861bb38fb2400000d_001":"circularized oligodeoxynucleotides (coligos)","58d8e6818acda3452900000a_055":"Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities.","58a5b1fe60087bc10a000024_001":"The small ubiquitin-like modifier (SUMO) pathway in eukaryotes is an essential post-translational modification required for a variety of cellular processes, development and organelle biogenesis. SUMO-conjugating enzyme (Ubc9) is an important conjunction enzyme in the SUMO pathway. ","5a68f005b750ff4455000016_001":"Neural correlates of distraction in borderline personality disorder before and after dialectical behavior therapy.","5171438a8ed59a060a000007_011":"The germline mutation was detected because of the systematic genetic screening of the RET proto-oncogene, which is useful for genetic counseling of potential risk of HSCR and MTC in other family members. This family could be added to the small worldwide cohort of families with MEN2A\/FMTC-HSCR.","56ed0ffe2ac5ed1459000008_012":"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. ","56c04412ef6e39474100001b_022":"In this study, we describe the cytotoxic mechanisms of action of daratumumab, a novel, high-affinity, therapeutic human mAb against a unique CD38 epitope.","58da1aa08acda34529000012_002":"hCG promotes progesterone production by corpus luteal cells; promotes angiogenesis in uterine vasculature; promoted the fusion of cytotrophoblast cell and differentiation to make syncytiotrophoblast cells; causes the blockage of any immune or macrophage action by mother on foreign invading placental cells; causes uterine growth parallel to fetal growth; suppresses any myometrial contractions during the course of pregnancy; causes growth and differentiation of the umbilical cord; signals the endometrium about forthcoming implantation; acts on receptor in mother's brain causing hyperemesis gravidarum, and seemingly promotes growth of fetal organs during pregnancy. ","552fac4fbc4f83e828000006_007":"The high levels of DAX1 found in Ewing tumors and its potent transcriptional repressor activity suggest that the oncogenic effect of EWS\/FLI1 may be mediated, at least in part, by the up-regulation of DAX1 expression","53442ca9aeec6fbd0700000b_001":"They are categorized as a unique class of proteases based on their subcellular localization on the luminal side of the endoplasmic reticulum. ","5a68f005b750ff4455000016_007":"Use of dialectical behavior therapy in borderline personality disorder: a view from residency.","5880b073c872c95565000003_003":"Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly.","5a9ac7ba1d1251d03b000013_003":"If current Phase-3 trials are positive, 5-HT6 antagonists such as Idalopirdine and Intepirdine may be considered as supplementary treatments to ChEI's and NMDA receptor antagonists for the symptomatic treatment of AD.","52bf1d9e03868f1b06000010_009":"Recently, denosumab, a noncytotoxic IgG2 monoclonal antibody with high affinity for human RANKL, has been demonstrated to significantly prevent clinically relevant increase in pain compared with zoledronic acid across the tumor types. ","571f5c150fd6f91b68000009_012":"Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused by a deficiency of frataxin, a conserved mitochondrial protein of unknown function.","53551206a0726bee57000001_006":"Antioxidative and cardioprotective effects of Phyllanthus urinaria L. on doxorubicin-induced cardiotoxicity","55200c606b348bb82c000013_024":"Most are small synthetic molecules that target factor IIa (e.g., dabigatran etexilate, AZD-0837) or factor Xa (e.g., rivaroxaban, apixaban, betrixaban, DU176b, idrabiotaparinux).","58dd0dde8acda34529000027_003":"Marfan syndrome (MFS) is a systemic disorder of the connective tissue with pleiotropic manifestations due to heterozygous FBN1 mutations and consequent upregulation of TGF\u03b2 signaling in affected tissues","5353aedb288f4dae47000006_016":"expression of the non-coding X-inactive specific transcript (Xist) RNA and depends on specific cellular contexts, in which essential silencing factors are expressed","5a68f448b750ff4455000018_006":"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.","530cefaaad0bf1360c00000d_014":"Our study confirms the increased incidence of both elevated TSH serum values (37.9% in our sample) and thyroid gland hypoplasia (74.7%).","5a6a3335b750ff4455000025_002":"We present emMAW, the first external-memory algorithm for computing minimal absent words. A free open-source implementation of our algorithm is made available. This allows for computation of minimal absent words on far bigger data sets than was previously possible. Our implementation requires less than 3\u2009h on a standard workstation to process the full human genome when as little as 1\u2009GB of RAM is made available. ","58a2e5f760087bc10a000007_020":"Lewy bodies and coarse Lewy neurites are the pathological hallmarks of degenerating neurons in the brains of patients suffering from Parkinson's disease (PD). Recently, the presynaptic protein alpha-synuclein was shown to be a major component of Lewy bodies and Lewy neurites. This study demonstrates for the first time that extensive and thin alpha-synuclein-immunoreactive inclusions are present in the axonal processes of neurons.","56f780cb09dd18d46b000011_002":"Nivolumab was developed as a monoclonal antibody against programmed death receptor-1, an immune checkpoint inhibitor which negatively regulates T-cell proliferation and activation. ","5a679e8cb750ff4455000006_001":"Caring for a patient with rabies: implications of the Milwaukee protocol for infection control and public health measures.","5880b073c872c95565000003_005":"Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation.","56a24dfffe92d6fd19000002_004":"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,","5518e7da622b194345000004_018":"An in vitro kinase assay revealed that the resultant c-Jun phosphorylation was primarily mediated via activated c-Jun N-terminal protein kinase (JNK)","5324a8ac9b2d7acc7e000018_058":"Chronic myelogenous leukemia (CML) is characterized by a molecular aberration, a fusion BCR-ABL gene encoding for aberrant tyrosine kinase activity, which is crucial in the pathogenesis of CML. In vitro, inhibition of BCR-ABL protein tyrosine kinase activity by a tyrosine kinase inhibitor, Imatinib mesylate","54df695b1388e8454a000004_010":"Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250).","5519a7d5622b194345000015_004":"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.","58a5a51060087bc10a000021_004":"Molecular interaction of NADPH oxidase 1 with betaPix and Nox Organizer 1.","5a68f005b750ff4455000016_008":"Of evaluated psychological treatments in borderline personality disorder, dialectical behaviour therapy (DBT) has the strongest research support, followed by mentalization based therapy (MBT).","56c1f01def6e394741000045_007":"This study examined orteronel in patients with metastatic castration-resistant prostate cancer that progressed after docetaxel therapy.","514a0a57d24251bc05000051_049":"Flumazenil (Ro 15-1788) proved to be a very efficacious competitive antagonist of benzodiazepines that reliably counteracts their pharmacological actions within 1-2 min as could be demonstrated in clinical and EEG studies.","5519113b622b19434500000f_006":"All typical cases result from haploinsufficiency of the ZEB2 (also known as ZFHX1B or SIP-1) gene, with over 100 distinct mutations now described.","571e40a8bb137a4b0c000009_008":"The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics, has remained enigmatic. 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.","514a0a57d24251bc05000051_038":"Thus, flumazenil provides a safe and effective means of attenuating or reversing the CNS-depressant effects of benzodiazepines whenever indicated, e.g. following benzodiazepine-induced general anaesthesia, conscious sedation, or after benzodiazepine overdose, either alone or in combination with other agents.","58cbb98c02b8c60953000034_048":"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. ","5a871a6861bb38fb24000009_006":"Anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer (NSCLC) is sensitive to treatment with an ALK-tyrosine kinase inhibitor (-TKI).","589a246078275d0c4a00002a_011":"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","58cbb98c02b8c60953000034_040":"Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species","5ace37d50340b9f058000011_004":"Primary prophylaxis with antifungal interventions may decrease cryptococcal disease incidence and associated mortality.<br><b>OBJECTIVES<\/b>: To assess the efficacy of antifungal interventions for the primary prevention of cryptococcal disease in adults with HIV.<br><b>SEARCH STRATEGY<\/b>: We searched the following databases: MEDLINE, EMBASE, Cumulative Index to Nursing and Allied Health Literature (CINAHL), ClinicalTrials.gov, Database of Abstracts of Reviews of Effectiveness (DARE), Latin American and Caribbean Literature on the Health Sciences (LILACS), and the Cochrane Controlled Trials Register (CCTR).","56e0447a51531f7e3300000b_001":"Since the discovery of non-coding, small, highly structured, satellite RNAs (satRNAs) and viroids as subviral pathogens of plants , have been of great interest to molecular biologists as possible living fossils of pre-cellular evolution in an RNA world.","553c9f96f32186855800000c_003":"These elements are organized as large clusters, so-called gene regulatory blocks (GRBs) around key developmental genes","58bc5e2202b8c60953000002_012":"Interest in the proteins has been heightened by the discovery that gene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS).","589d965a78275d0c4a000049_008":"Mammalian miRNA biogenesis begins with cotranscriptional cleavage of RNA polymerase II (Pol II) transcripts by the Microprocessor complex.","56afe6d40a360a5e45000017_005":"CAGEr: precise TSS data retrieval and high-resolution promoterome mining for integrative analyses","571f5c150fd6f91b68000009_005":"Friedreich ataxia (FRDA) is a neurodegenerative disease characterized by a decreased expression of the mitochondrial protein frataxin.","58a1c0f178275d0c4a000056_001":"Inactivated poliovirus vaccine (IPV), developed in the USA by Jonas Salk in the early 1950s, was field tested in 1954,","5518e7da622b194345000004_008":"The c-Jun N-terminal kinase (JNK) is thought to be involved in inflammation, proliferation and apoptosis. ","550f0e4c6a8cde6b72000003_023":"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.","52bf1f1303868f1b06000014_007":"Peroxiredoxin 2 (PRDX2), an antioxidant enzyme, was the most upregulated while tribbles homolog 3 (TRB3), a pro-apoptotic protein, was the most downregulated, implying a beneficial effect of lithium on neuronal cells.","5139b31dbee46bd34c000004_003":"Experimental autoimmune encephalomyelitis (EAE) is a well-studied disease in rodents that mimics many clinical and pathological features of MS, including central nervous system inflammation and demyelination","58a2e5f760087bc10a000007_019":"Lewy bodies and coarse Lewy neurites are the pathological hallmarks of degenerating neurons in the brains of patients suffering from Parkinson's disease (PD). Recently, the presynaptic protein alpha-synuclein was shown to be a major component of Lewy bodies and Lewy neurites.","571e14fbbb137a4b0c000001_010":"Oral empagliflozin (Jardiance()), a sodium glucose cotransporter-2 (SGLT2) inhibitor, is a convenient once-daily treatment for adult patients with type 2 diabetes mellitus.","56e0447a51531f7e3300000b_009":"Viroids, satellite RNAs, satellites viruses and the human hepatitis delta virus form the 'brotherhood' of the smallest known infectious RNA agents, known as the subviral RNAs.","5717dbfe7de986d80d000001_017":"Glucocorticoid modulation of mitochondrial function in hepatoma cells requires the mitochondrial fission protein Drp1.","56d1f790f22319765a000001_011":"The T790M mutation in EGFR accounts for approximately half of all lung cancer cases with acquired resistance to the current clinical EGFR tyrosine kinase inhibitors.","58a32efe60087bc10a000013_026":"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.","5710e131a5ed216440000001_007":"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.","51585b28d24251bc0500008d_004":"DNMT1, the major maintenance DNA methyltransferase in animals, helps to regulate gene expression, genome imprinting, and X-chromosome inactivation.","54ff45966ad7dcbc12000010_004":"NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial tissues.","5a6e4d22b750ff445500004d_001":"SMARCAL1 (SWI\/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1), also known as HARP, is an ATP-dependent annealing helicase that stabilizes replication forks during DNA damage. Mutations in this gene are the cause of Schimke immune-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by T-cell immunodeficiency and growth dysfunctions.","5895bc397d9090f35300000b_007":"Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. ","55054f8af73303d458000002_017":"Analysis of amino acid 13C abundance from human and faunal bone collagen using liquid chromatography\/isotope ratio mass spectrometry.","5891c90949702f2e01000001_006":"INCA: synonymous codon usage analysis and clustering by means of self-organizing map","53124bdae3eabad02100000b_001":"molecular target of rapamycin (mTOR","55180ef46487737b43000006_001":"Dermatitis herpetiformis (DH) is an autoimmunity-driven inflammatory blistering dermatosis associated with a gluten-dependent enteropathy. ","58f4b9d470f9fc6f0f000016_005":"Francisella tularensis, the Gram-negative bacterium that causes tularemia, is considered a potential bioterrorism threat due to its low infectivity dose and the high morbidity and mortality from respiratory disease","56c1d857ef6e394741000033_003":"BACKGROUND AND OBJECTIVES: Opicapone is a novel third generation catechol-O-methyltransferase (COMT) inhibitor. The purpose of this study was to compare the levodopa pharmacokinetic profile throughout a day driven by the COMT inhibition either following repeated doses of opicapone or concomitant administration with entacapone.","514a0a57d24251bc05000051_036":"Flumazenil is the first benzodiazepine antagonist which can be used in humans and is a well established for treatment of benzodiazepine overdose.","56d19a363975bb303a000017_003":"Treslin\/TICRR (TopBP1-interacting, replication stimulating protein\/TopBP1-interacting, checkpoint, and replication regulator), the human ortholog of the yeast Sld3 protein, is an essential DNA replication factor that is regulated by cyclin-dependent kinases and the DNA damage checkpoint. We identified MDM two binding protein (MTBP) as a factor that interacts with Treslin\/TICRR throughout the cell cycle.","531464a6e3eabad021000014_044":"We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome.","58adc1ff9ef3c34033000006_013":"These results define a novel, functional interaction between TFIIB and Ssl2 that affects start site selection and gene looping.","5a70d42899e2c3af26000002_003":"Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.","55421ee7ccca0ce74b000002_006":"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.","58a5a51060087bc10a000021_005":"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","56c079b1ef6e394741000022_003":"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. ","5880aef4c872c95565000001_032":"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.","54cb9c94f693c3b16b000005_001":"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.","56e0447a51531f7e3300000b_002":"We show that viroids from the two known families are readily identified and their full-length sequences assembled by PFOR from small RNAs sequenced from infected plants. ","5505a587f73303d458000005_001":" mammalian target of rapamycin (mTOR)","5147c8a6d24251bc05000027_011":"Human galactocerebrosidase, the enzyme deficient in Krabbe disease, was purified, through several hydrophobic column steps and gel filtration, 22,650-fold from human lymphocytes","550f0e4c6a8cde6b72000003_011":"Recent studies have proposed that FSHD pathology is caused by the misexpression of the DUX4 (double homeobox 4) gene resulting in production of a pathogenic protein, DUX4-FL, which has been detected in FSHD, but not in unaffected control myogenic cells and muscle tissue.","5a68f448b750ff4455000018_007":"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.","5a72302b2dc08e987e000005_003":"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.","5a6e3155b750ff445500003f_004":"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.","587e3e302420191125000002_005":"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.","5a6e472ab750ff4455000048_002":"These findings strongly predict a cellular adhesion function for TMEM132 family, connecting the extracellular medium with the intracellular actin cytoskeleton.","550f0e4c6a8cde6b72000003_001":"e expression of DUX4 has been confirmed in both FSHD cells and biopsies by several laboratories.","5147c088d24251bc05000026_005":"Human small-cell lung cancer (SCLC) cells are believed to express the antigens responsible for the production of pathological antibodies in the Lambert-Eaton syndrome (LES), a Ca2+ channel disorder in which quantal transmitter release from the motor nerve terminal is impaired.","5506c3e38e1671127b00000a_044":"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.","58d906b28acda3452900000d_005":"The tafazzin gene (TAZ) is located at Xq28 and encodes a protein involved in the transacylation of cardiolipin, an essential mitochondrial phospholipid","56c048acef6e39474100001c_012":"Imetelstat inhibited telomerase activity in both subpopulations.","51635202298dcd4e5100004f_002":"Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene.","56c1d857ef6e394741000033_005":"Opicapone is a novel catechol-O-methyltransferase (COMT) inhibitor.","54cb9c94f693c3b16b000005_015":"Phospholamban has been suggested to be a key regulator of cardiac sarcoplasmic reticulum (SR) Ca cycling and contractility and a potential therapeutic target in restoring the depressed Ca cycling in failing hearts.","56f564f909dd18d46b000009_003":"Chediak-Higashi syndrome: novel mutation of the CHS1\/LYST gene in 3 Omani patients.","55180ef46487737b43000006_016":"CONCLUSIONS: Patients with dermatitis herpetiformis can include moderate amounts of oats in their gluten-free diets without deleterious effects to the skin or intestine.","5a68f005b750ff4455000016_014":"OBJECTIVE The authors describe the use of dialectical behavior therapy (DBT) in treating borderline personality disorder during psychiatry residency, and assess the status of DBT education within psychiatry residencies in the United States.","589a246078275d0c4a00002a_017":"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_007":"Six patients had deletions in the ZEB2 gene, including two novel partial gene deletions.","58a2e5f760087bc10a000007_002":"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. ","5717dbfe7de986d80d000001_009":"In the present study, we found a marked upregulation of mitochondrial fission protein dynamin-related protein 1 (Drp1) expression in human invasive breast carcinoma and metastases to lymph nodes.","5ace37d50340b9f058000011_010":"AUTHORS' CONCLUSIONS Antifungal primary prophylaxis with either itraconazole or fluconazole is effective in reducing the incidence of cryptococcal disease in adults with advanced HIV disease.","52bf1b0a03868f1b06000009_009":"Autosomal recessive inheritance indicates that siblings of affected patients are at 25% risk of having the disease. ","58a32efe60087bc10a000013_038":"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.","587e3e302420191125000002_001":"LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor.","514a0a57d24251bc05000051_032":"Fifteen comatous patients with suspected sedatives\/hypnotics overdose were included in this study and flumazenil 0.25 mg per dose was administrated intravenously. The average score of Glasgow Coma Scale increased from 7.13 +\/- 2.92 to 10.93 +\/- 3.67 after one dose of flumazenil. Clear consciousness was restored after multiple doses of flumazenil administration.","5343fc1aaeec6fbd07000003_041":"type 1 (NF1) gene is a tumor suppressor gene, and the NF1 gene product, neurofibromin","5717dbfe7de986d80d000001_006":"Mitochondrial morphology is primarily controlled by the activation of dynamin-related proteins including dynamin-related protein 1 (Drp1), which promotes mitochondrial fission. ","58f0b1d670f9fc6f0f000007_001":"MiRs are small (~23 nt) noncoding RNAs that regulate gene expression by specifically interacting with the 3' untranslated region (UTR) of target gene mRNA to repress translation or enhance mRNA cleavage. ","590c74d170f9fc6f0f00001e_002":"The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways.","58a57f9460087bc10a00001f_017":"Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).","58eb99f3eda5a57672000009_005":"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.","5a6f853ab750ff4455000055_011":"Diagnosing diabetic foot osteomyelitis: is the combination of probe-to-bone test and plain radiography sufficient for high-risk inpatients?","5314bd7ddae131f847000006_003":"Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.","56c048acef6e39474100001c_004":"Telomerase inhibitor Imetelstat (GRN163L) limits the lifespan of human pancreatic cancer cells.","58ea7248eda5a57672000002_003":" 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. ","5880aef4c872c95565000001_013":"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.","5a89800efcd1d6a10c00000c_001":" A secreted enzyme, PM20D1, enriched in UCP1+ adipocytes, exhibits catalytic and hydrolytic activity to reversibly form N-acyl amino acids.","56c1f020ef6e394741000047_023":"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. ","514a0a57d24251bc05000051_030":"Fifteen comatous patients with suspected sedatives\/hypnotics overdose were included in this study and flumazenil 0.25 mg per dose was administrated intravenously. The average score of Glasgow Coma Scale increased from 7.13 +\/- 2.92 to 10.93 +\/- 3.67 after one dose of flumazenil. Clear consciousness was restored after multiple doses of flumazenil administration.","51542e44d24251bc05000081_003":"Mutations of the epidermal growth factor receptor (EGFR) gene have been reported in non-small-cell lung cancer (NSCLC), especially in patients with adenocarcinoma and never smokers. Some common somatic mutations in EGFR, including deletion mutations in exon 19 and leucine-to-arginine substitution at amino acid position 858 (L858R) in exon 21, have been examined for their ability to predict sensitivity to gefitinib or erlotinib, which are selective EGFR tyrosine kinase inhibitors (EGFR-TKIs).","5ace238e0340b9f05800000d_005":"It is known that human chromosome 2 originated from the fusion of two ancestral primate chromosomes. ","56d860ad51531f7e33000002_011":"encoding the endosomal Na+\/H+ exchanger 6 (NHE6) are associated with Christianson syndrome,","54d649843706e89528000009_003":"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.","587f7a69d8d850a152000001_004":"Fixed-length approximate string matching is a generalisation of the classic approximate string matching problem. We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching. The extensive experimental results presented here suggest that other applications could benefit from using libFLASM, and thus further maintenance and development of libFLASM is desirable","54d907c84b1fd0d33c000008_005":"Mepolizumab is a fully humanized monoclonal antibody (IgG1\/\u03ba) targeting human interleukin-5 (IL-5), a key haematopoietin needed for eosinophil development and function. Mepolizumab blocks human IL-5 from binding to the \u03b1-chain of the IL-5 receptor complex on the eosinophil cell surface, thereby inhibiting IL-5 signalling. ","5880aef4c872c95565000001_035":"Daratumumab, a human IgG\u03ba monoclonal antibody that targets CD38, induces direct and indirect antimyeloma activity and has shown substantial efficacy as monotherapy in heavily pretreated patients with multiple myeloma, as well as in combination with bortezomib in patients with newly diagnosed multiple myeloma.","5506c3e38e1671127b00000a_003":"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.","55475dc2f35db75526000001_013":"Botulinumtoxin (BTX) is a neurotoxin produced from Clostridium botulinum under anaerobic conditions and is responsible for botulism, a notifiable, bacterial form of food poisoning","58dd0dde8acda34529000027_002":"Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.","530cefaaad0bf1360c00000d_004":"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. ","5324a8ac9b2d7acc7e000018_015":"matinib mesylate (STI 571; Gleevec; Novartis Pharmaceuticals, Basel, Switzerland) is an orally available tyrosine kinase inhibitor that targets a constitutively activated BCR-ABL tyrosine kinase","58a32efe60087bc10a000013_040":"Methicillin-resistant Staphylococcus aureus (MRSA) infections pose a major challenge in health care, yet the limited heterogeneity within this group hinders molecular investigations of related outbreaks.","54cb9c94f693c3b16b000005_007":"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. ","5708992ccf1c32585100000d_001":"The RESID Database of Protein Modifications is a comprehensive collection of annotations and structures for protein modifications and cross-links including pre-, co-, and post-translational modifications","5506c3e38e1671127b00000a_048":"These results indicate that SEA0400 is a potent and highly selective inhibitor of NCX, and would be a powerful tool for further studies on the role of NCX in the heart and the therapeutic potential of its inhibition.","5880b073c872c95565000003_027":"With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors.","56c1f010ef6e394741000041_002":"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.","56ae6e650a360a5e4500000e_002":"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.","56c1f020ef6e394741000047_008":"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).","5a6d196db750ff4455000032_006":"Thus, these subpallial enhancer transgenic lines are data and tool\u00a0resources to study transcriptional regulation of GABAergic cell fate..","56d1da3b67f0cb3d66000006_006":"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.","5a79d0b8faa1ab7d2e00000d_012":"Genome-wide Okazaki fragment distribution can differentiate the discontinuous from the semi-discontinuous DNA replication model.","56c1f020ef6e394741000047_011":"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.","56c048acef6e39474100001c_019":"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. ","54cb9c94f693c3b16b000005_005":"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.","54f9c40ddd3fc62544000001_011":"Calcineurin, a Ca(2+)\/calmodulin-stimulated protein phosphatase, plays a key role in T-cell activation by regulating the activity of NFAT (nuclear factor of activated T cells), a family of transcription factors required for the synthesis of several cytokine genes.","5a6fa31ab750ff445500005e_002":"While genomic assays can identify putative enhancers en masse, assigning target genes is a complex challenge. 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. Predicted expression patterns were 73-98% accurate, predicted assignments showed strong Hi-C interaction enrichment, enhancer-associated histone modifications were evident, and known functional motifs were recovered. Our model provides a general framework to link globally identified enhancers to targets and contributes to deciphering the regulatory genome.","5518e7da622b194345000004_002":" c-Jun NH2-terminal kinase (JNK)","58a644e560087bc10a000027_005":" aim of this study was to study the safety and tolerability of simtuzumab, a monoclonal antibody directed against lysyl oxidase-like 2 (LOXL2) enzyme, i","56ed0ffe2ac5ed1459000008_014":"Among 55 response-evaluable patients, 15% achieved partial response or better (76% stable disease or better). These findings have informed the subsequent clinical development of ixazomib in multiple myeloma.","533ea8fcc45e133714000010_019":" in eukaryotic selenoprotein mRNAs, this stem-loop structure, the selenocysteine insertion sequence (SECIS) element, resides in the 3'-untranslated region","5505edac8e1671127b000005_001":"Hydrophilic Interaction Chromatography (HILIC) ","54cb9c94f693c3b16b000005_009":"phospholamban (PLN), a muscle-specific SR Ca(2+)-ATPase (SERCA2a) inhibitor","5a8b1264fcd1d6a10c00001d_011":"The soilborne fungus Fusarium oxysporum f. sp. radicis-lycopersici causes tomato foot and root rot (TFRR), which can be controlled by the addition of the nonpathogenic fungus F. oxysporum Fo47 to the soil","5880aef4c872c95565000001_024":"Multiple myeloma (MM) remains mostly incurable despite the recent progress in the treatment strategy. 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.","5717dbfe7de986d80d000001_016":"These results collectively indicate that ER-specific BNIP1 plays an important role in mitochondrial dynamics by modulating the mitochondrial fission protein Drp1 in a BH3 domain-dependent fashion","5506ce078e1671127b00000b_002":" 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.","56c1f045ef6e394741000058_002":"Selexipag for the treatment of pulmonary arterial hypertension.","530cefaaad0bf1360c000012_006":"Iron status is poor in regular blood donors, restless legs syndrome is common, and the routine iron supplementation is insufficient. ","530cefaaad0bf1360c000012_011":"Clinical studies have implicated the dopaminergic system in RLS, while others have suggested that it is associated with insufficient levels of brain iron. ","587f760792a5b8ad44000005_002":"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.","5545186cbf90a13052000002_017":"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.","571e14fbbb137a4b0c000001_003":"Empagliflozin: a review of its use in patients with type 2 diabetes mellitus.","58dbb8968acda3452900001b_001":"Sudden Unexpected Death in Epilepsy (SUDEP)","532f55fed6d3ac6a34000036_009":"Gaucher's disease (GD) is an autosomal recessive disease produced by mutations of the Glucocerebrosidase gene","5543829fed966d112c000009_002":"Medicarpin, the major phytoalexin in alfalfa, is synthesized by way of the isoflavonoid branch of phenylpropanoid metabolism.","54db62a3034aea571d000001_004":"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.","54f35ad864850a5854000004_008":"OBJECTIVE: This paper reviews the pharmacology and chemical efficacy of an A beta-lowering agent, semagacestat (LY450139).","589480b47d9090f353000007_001":"webSDA: a web server to simulate macromolecular diffusional association.","52b2e498f828ad283c000010_003":"Recent studies mapped the achondroplasia gene on chromosome region 4p16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3). ","571e14fbbb137a4b0c000001_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).","5a72302b2dc08e987e000005_001":"Patent foramen ovale closure with GORE HELEX or CARDIOFORM Septal Occluder vs. antiplatelet therapy for reduction of recurrent stroke or new brain infarct in patients with prior cryptogenic stroke: Design of the randomized Gore REDUCE Clinical Study.","58bfd8e902b8c60953000018_018":"In this report a patient with diabetes mellitus and generalized necrobiosis lipoidica diabeticorum with localization in surgical scars is described.","5149f494d24251bc0500004c_018":"Opioid overdose is rarely the primary cause of altered mental status in cancer patients receiving opioid therapy. The inappropriate administration of naloxone to reverse an abnormal mental status can cause severe withdrawal symptoms and pain. ","52bf1d9e03868f1b06000010_002":"Treatment of AML cells with the clinically available RANKL Ab Denosumab resulted in enhanced NK cell anti-leukemia reactivity. ","514a0a57d24251bc05000051_014":"To develop clinical rules for the safe and effective use of flumazenil in suspected benzodiazepine overdose.","5a4df811966455904c00000e_011":"The transcription elongation factor S-II, also designated TFIIS, stimulates the nascent transcript cleavage activity intrinsic to RNA polymerase II.","58a9d8a1396a458e50000005_001":"Respirasomes are macromolecular assemblies of the respiratory chain complexes I, III and IV in the inner mitochondrial membrane.","5ace19420340b9f05800000a_019":"Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk.","5a7237672dc08e987e000008_024":"CONCLUSION Reversal of dabigatran etexilate using idarucizumab was safe and successful with no recombinant tissue plasminogen activator interactions.","5710e131a5ed216440000001_005":"These observations suggest that the context of chromosome XII plays an important role in maintaining a constant rDNA copy number and in physiological processes related to rDNA function in S.cerevisiae.","550e828c71445a662f000002_014":"Canakinumab and gevokizumab are highly specific IL-1\u03b2 monoclonal antibodies.","55054f8af73303d458000002_016":"We used authentication tests developed for ancient DNA to evaluate claims by Asara et al. (Reports, 13 April 2007, p. 280) of collagen peptide sequences recovered from mastodon and Tyrannosaurus rex fossils","589a247078275d0c4a000035_016":"PURPOSE: Immunotherapy of high-risk neuroblastoma using the anti-GD2 antibody dinutuximab induces antibody-dependent cell-mediated cytotoxicity (ADCC).","56bc77a3ac7ad10019000015_008":"Recent phase 3 trials with malaria vaccine candidate RTS,S\/AS01 (RTS,S) in children has demonstrated modest efficacy against clinical and severe malaria.","55032e65e9bde69634000034_012":"The patient was a 19-year-old woman who presented with hemiatrophy and diminished superficial sensation on the left side of her body including her face. She had a past history of tonic-clonic seizures accompanied by left hemiparesis in late childhood. Brain CT demonstrated dilatation of the frontal sinus, calvarial thickening, cerebral hemiatrophy and dilatation of the lateral ventricle on the right side. Brain MRI showed atrophy of the right cerebrum and midbrain and dilatation of the lateral ventricle on T1-weighted images, as well as a high signal intensity area from the parietal to the occipital lobe on T2-weighted images. ","53318685d6d3ac6a3400003d_002":"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. ","52bf1d9e03868f1b06000010_003":"The emerging clinical implication, supported by recent epidemiological studies, is that \u03b2AR-blockers and drugs interfering with RANKL signaling, such as Denosumab, could increase patient survival if used as adjuvant therapy to inhibit both the early colonization of bone by metastatic breast cancer cells and the initiation of the \"vicious cycle\" of bone destruction induced by these cells.","55242d512c8b63434a000006_020":"PURPOSE: To determine the reproducibility of measurements of brain 5-HT2A receptors with an [18F]altanserin PET bolus\/infusion approach.","5895bc397d9090f35300000b_012":"Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum","550f0e4c6a8cde6b72000003_044":"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","571e40a8bb137a4b0c000009_007":"The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics, has remained enigmatic. 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.","551c23bc6b348bb82c00000b_008":"Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.","536e46f27d100faa09000012_009":"Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.","587e0116ae05ffb474000002_003":"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_075":"Oculocutaneous albinism Type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene.","551fd9c06b348bb82c000012_036":"To determine the utility of the Recognition of Stroke in the Emergency Room (ROSIER) scale as a stroke recognition tool among Chinese patients in the prehospital setting.","5353aedb288f4dae47000006_029":"inactive-specific transcript (Xist","56c04412ef6e39474100001b_023":"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.  .","5540ca8a0083d1bf0e000003_002":"nestin, a marker protein for precursor cells in the subventricular zone","5a76179d83b0d9ea66000021_006":"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.<br><b>Availability and Implementation<\/b>: http:\/\/www.bioconductor.org\/packages\/SeqArray.<br><b>Contact<\/b>: zhengx@u.washington.edu.<br><b>Supplementary information<\/b>: Supplementary data are available at Bioinformatics online.<br>","56bc77a3ac7ad10019000015_031":"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.","530cefaaad0bf1360c000012_004":" Iron status was generally poor among regular blood donors, especially in women, with a high incidence of iron depletion (>20%) and RLS (18%). ","56c85ed65795f9a73e000012_005":"Dasatinib inhibits the proliferation and function of CD4+CD25+ regulatory T cells.","5a4df811966455904c00000e_005":"The transcription factor TFIIS zinc ribbon dipeptide Asp-Glu is critical for stimulation of elongation and RNA cleavage by RNA polymerase II.","5ace19420340b9f05800000a_010":"Melanocortin-1 receptor (MC1R) gene variants are associated with fair skin and red hair","56bdc79bef6e394741000001_003":" To evaluate the safety and efficacy of combined transepithelial topography-guided photorefractive keratectomy (PRK) therapeutic remodeling, combined with same-day, collagen cross-linking (CXL). This protocol was used for the management of cornea blindness due to severe corneal scarring.","5717dbfe7de986d80d000001_023":"In this study the role of the mitochondrial fission protein, Drp1 during Shigella infection in HeLa cells was examined.","55242d512c8b63434a000006_029":"To this end, the regional distribution and intrasubject test-retest variability of the binding of [18F]altanserin were measured as important steps in the further development of [18F]altanserin as a radiotracer for positron emission tomography (PET) studies of the serotonin 5-HT2A receptor","5a7237672dc08e987e000008_007":"CONCLUSIONS: The initial data suggest a definite role for idarucizumab in treatment of bleeding associated with dabigatran.","5a6a3464b750ff4455000026_006":"We present MARS, a new heuristic method for improving Multiple circular sequence Alignment using Refined Sequences.","530cefaaad0bf1360c00000d_006":"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. ","5a39453d966455904c000006_002":"subSeq: determining appropriate sequencing depth through efficient read subsampling.","571f609c0fd6f91b6800000c_002":"GM1 and GM2 gangliosidosis are associated with deficiency of \u03b2-galactosidase and \u03b2-hexosaminidase respectively.","5891c90949702f2e01000001_005":"UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes.","58edf567eda5a57672000011_001":"During this phase, at least 48 genes, collectively named Dormancy survival regulator (DosR) regulon, are important for the long-term survival of bacilli under a non-respiring state, a condition that bacilli encounter inside granulomatous lesions.","58cbb98c02b8c60953000034_028":"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.","56b710f276d8bf8d13000003_005":"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.","5891c90949702f2e01000001_014":"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.","532dcfc9d6d3ac6a34000021_014":"Murine G9a is a 1263 amino acid H3-K9 methyltransferase that possesses characteristic SET domain and ANK repeats","58a32efe60087bc10a000013_054":"methicillin-resistant Staphylococcus aureus (MRSA) ","551c23bc6b348bb82c00000b_002":"The aryl hydrocarbon receptor interacting protein (AIP) gene has a major role in the pathogenesis of familial isolated pituitary adenoma.","56d860ad51531f7e33000002_002":"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.","56bc77a3ac7ad10019000015_013":"The RTS,S\/AS01(E) malaria vaccine candidate has recently entered Phase 3 testing.","55180ef46487737b43000006_014":"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.","58a32efe60087bc10a000013_017":"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.","5a6e24a5b750ff445500003c_001":"The recount2 resource is composed of over 70,000 uniformly processed human RNA-seq samples spanning TCGA and SRA, including GTEx.","5abcf0b0fcf4565872000024_004":"Identification of Leishmania species causing cutaneous leishmaniasis using Random Amplified Polymorphic DNA (RAPD-PCR) in Kharve, Iran.","56af9f130a360a5e45000015_001":" Pannexin1 channels traffic to the plasma membrane.","52fa6ac72059c6d71c000055_007":"Bach1, a basic leucine zipper mammalian transcriptional repressor, negatively regulates heme oxygenase 1 (HMOX1),","58e75d483e8b6dc87c000005_004":"Furthermore, we observe that in PU.1(-\/-) fetal liver cells, low levels of the IE GATA-1 isoform is expressed, but the variant IB isoform is absent.","530cf4c54a5037880c000008_001":"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. ","5509bd6a1180f13250000002_001":"MR enterography of small-bowel lymphoma: potential for suggestion of histologic subtype and the presence of underlying celiac disease.","58a5a51060087bc10a000021_009":"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.","5a6fa61ab750ff4455000060_001":"FullSSR: Microsatellite Finder and Primer Designer.","5717dbfe7de986d80d000001_013":"In this study, we investigate the role of mitochondrial fission factor dynamin-related protein 1 (Drp1) in myogenic differentiation","52fe52702059c6d71c000078_002":"CENPA is a member of the histone H3-like proteins and is thought to replace histone H3 in centromeric nucleosomes. CENPC is a DNA-binding protein that is located at the inner kinetochore plate of active mammalian centromeres.","5324a8ac9b2d7acc7e000018_037":"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","530cf4e0c8a0b4a00c000006_009":"The most common cause of sudden cardiac death in individuals aged less than 35 years, including competitive athletes, is the inherited disorder hypertrophic cardiomyopathy (HCM). ","5a70e4b399e2c3af26000008_003":"Glecaprevir and pibrentasvir are direct-acting antiviral agents being developed as combination therapy for the treatment of chronic hepatitis C virus infection.","51542e44d24251bc05000081_005":"Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in lung adenocarcinomas that respond to the EGFR inhibitors gefitinib and erlotinib.","5171438a8ed59a060a000007_005":"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.","55032e65e9bde69634000034_018":"CT of the brain revealed characteristic features diagnostic of infantile type of cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome","51596a8ad24251bc0500009e_004":"suggesting that Cep135 is a structural component of the centrosome.","55200c606b348bb82c000013_008":"Another factor Xa inhibitor, edoxaban, is under evaluation in an ongoing phase III clinical trial and others such as AZD0837, betrixaban and darexaban are still in safety and tolerability phase II studies.","56ecfd572ac5ed1459000002_004":"Carfilzomib and its orally bioavailable analog oprozomib, effectively decreased MM cell viability following continual or transient treatment mimicking in vivo pharmacokinetics.","58d8e6818acda3452900000a_026":"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.Among 18 MS patients with the phenotype of MS meeting inclusion criteria 15 have had a FBN1 gene mutation","5ab147edfcf4565872000013_003":"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.","58cdb41302b8c60953000042_007":"Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues","58b6978822d300530900000a_002":"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.","58a32efe60087bc10a000013_009":"It was found in the present study that combined use of fusidic acid (FA) and berberine chloride (BBR) offered an in vitro synergistic action against 7 of the 30 clinical methicillin-resistant Staphylococcus aureus (MRSA) strains, with a fractional inhibitory concentration (FIC) index ranging from 0.5 to 0.19","53357ca0d6d3ac6a3400004b_004":"Fostamatinib (R788) inhibits spleen tyrosine kinase (Syk) and has been in clinical trials involving both MTX inadequate responders (MTX-IRs) and biologic inadequate responders. ","58cbb98c02b8c60953000034_049":"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. ","5a8b1264fcd1d6a10c00001d_006":" we focused on the tomato (Solanum lycopersicum) and its pathogenic F. oxysporum f. sp. lycopersici (FOL)","5147c8a6d24251bc05000027_003":"This chapter describes in detail a practical procedure for the preparation of radiolabeled galactocerebroside and its use in the assay of galactocerebrosidase (GalCase), the enzyme deficient in globoid cell leukodystrophy (Krabbe disease).","5506c3e38e1671127b00000a_040":"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.","56e857ae42442bac75000004_001":"Extracellular matrix metalloproteinases (MMPs) are a family of endopeptydases which recquire a zinc ion at their active site, for proteolityc activity.","52e92c6e98d0239505000024_001":"bi-allelic mutations in the transcription factor RFX6 were described as the cause of a rare condition characterized by neonatal diabetes with pancreatic and biliary hypoplasia and duodenal\/jejunal atresia.","58dd0dde8acda34529000027_009":"Marfan's syndrome is an autosomal dominant disorder of connective tissue, commonly involving the cardiovascular, ocular, and skeletal systems.","55200c606b348bb82c000013_020":"Examples of direct factor Xa inhibitors include apixaban, rivaroxaban, otamixaban, betrixaban and edoxaban.","58bc5e2202b8c60953000002_007":"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.","53617eeb7d100faa0900000a_002":"We studied 13 female juvenile elite gymnasts with anorexia athletica (AA","536e46f27d100faa09000012_012":"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.","551c23bc6b348bb82c00000b_004":"In 20-40% of families with this syndrome, mutations have been identified in the aryl hydrocarbon receptor interacting protein gene while in the rest of the families the causative gene or genes have not been identified. ","58b6978822d300530900000a_009":"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","5545186cbf90a13052000002_004":"Transcription-coupled repair (TCR) is a sub-pathway of nucleotide excision repair that allows for the enhanced repair of the transcribed strand of active genes.","569e7721ceceede94d000001_001":"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.","551fd9c06b348bb82c000012_037":"To determine the utility of the Recognition of Stroke in the Emergency Room (ROSIER) scale as a stroke recognition tool among Chinese patients in the prehospital setting.","51585b28d24251bc0500008d_025":"DNA methylation patterns are established and maintained by three DNA methyltransferases: DNMT1, DNMT3A, and DNMT3B.","56bc7d71ac7ad10019000018_005":"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. ","589185cc621ea6ff7e00000b_014":"Results informed the design of an ongoing, sham-controlled, phase 3 clinical study of nusinersen in infantile-onset spinal muscular atrophy.","530cefaaad0bf1360c000012_008":"Furthermore, there appears to be an association between iron deficiency and those suffering from Restless Leg Syndrome (RLS). ","589630f378275d0c4a000007_008":"Ixazomib is the first oral, proteasome inhibitor to reach phase III trials.","54e1bdacae9738404b000009_003":"Riociguat (Adempas(\u00ae)), a soluble guanylate cyclase stimulator, is a new, first-in-class drug approved for the treatment of patients with chronic thromboembolic pulmonary hypertension (CTEPH) [inoperable or persistent\/recurrent following surgery] or pulmonary arterial hypertension (PAH). ","5149f494d24251bc0500004c_003":"For patients who have ingested dextromethorphan and are sedated or comatose, naloxone, in the usual doses for treatment of opioid overdose, can be considered for prehospital administration, particularly if the patient has respiratory depression","5a8980d2fcd1d6a10c00000d_005":"Uncoupling protein 1 (UCP1) is the hallmark protein responsible for cold- and diet-induced thermogenesis in brown adipose tissue (BAT).","5891f9e549702f2e01000002_034":"OBJECTIVE: Restless legs syndrome, now called Willis-Ekbom Disease (RLS\/WED), is a sensorimotor-related sleep disorder. Little is known of the effect of RLS\/WED on motor function.","54ff45966ad7dcbc12000010_003":"Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS.","58cbb98c02b8c60953000034_067":"Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.","5ace37d50340b9f058000011_009":"We reviewed abstracts from the following relevant conferences: International AIDS Conference, International AIDS Society Conference on HIV Pathogenesis and Treatment, and Conference on Retroviruses and Opportunistic Infections.","56e6ec49edfc094c1f000005_003":"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. ","5717d64f29809bbe7a000001_003":"The dynamin-related protein Opa1 is localized to the mitochondrial intermembrane space,","56c85ed65795f9a73e000012_001":"Herein, we show that dasatinib inhibits TCR-mediated signal transduction, cellular proliferation, cytokine production, and in vivo T-cell responses. ","5a895f51fcd1d6a10c000004_010":"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.","5ace19420340b9f05800000a_009":"A strong association between MC1R gene variants and fair skin and red hair was established, especially the variants Arg151Cys and Arg160Trp (P<.0001). ","58a2e5f760087bc10a000007_021":"Filamentous alpha-synuclein inclusions link multiple system atrophy with Parkinson's disease and dementia with Lewy bodies.","58d8e6818acda3452900000a_008":"Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. ","54cf7051f693c3b16b000013_001":"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). ","58a2e5f760087bc10a000007_026":"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.","51387022bee46bd34c000002_008":"The most highly conserved noncoding elements (HCNEs) in mammalian genomes cluster within regions enriched for genes encoding developmentally important transcription factors (TFs). This suggests that HCNE-rich regions may contain key regulatory controls involved in development","5a761ac3aacfb9cd4c000002_009":"We present a case of Doege-Potter syndrome whose interest is to consider the TFSP as a cause of hypoglycemia in patients with pleural tumors.<br>","58eb9542eda5a57672000007_031":"Coilin, more than a molecular marker of the cajal (coiled) body.","5891c90949702f2e01000001_017":"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.","58e9e7aa3e8b6dc87c00000d_001":"Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts.","514a0a57d24251bc05000051_031":"Fifteen comatous patients with suspected sedatives\/hypnotics overdose were included in this study and flumazenil 0.25 mg per dose was administrated intravenously. The average score of Glasgow Coma Scale increased from 7.13 +\/- 2.92 to 10.93 +\/- 3.67 after one dose of flumazenil. Clear consciousness was restored after multiple doses of flumazenil administration.","58cbb98c02b8c60953000034_004":"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.","5518e7da622b194345000004_009":" c-Jun NH2-terminal protein kinases (JNK), ","5324a8ac9b2d7acc7e000018_046":" 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","53357193d6d3ac6a34000047_023":" Tofacitinib (CP-690,550) is a novel JAK inhibitor that is currently in clinical trials for the treatment of rheumatoid arthritis (RA). ","530cf4e0c8a0b4a00c000006_007":"The most common cause of sudden cardiac death in athletes is hypertrophic cardiomyopathy. ","587f7a69d8d850a152000001_006":"Fixed-length approximate string matching is a generalisation of the classic approximate string matching problem. We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching. The extensive experimental results presented here suggest that other applications could benefit from using libFLASM, and thus further maintenance and development of libFLASM is desirable","58eb9542eda5a57672000007_017":"We performed a genome-wide screen to identify proteins that colocalize with coilin, the marker protein of Cajal bodies","56d860ad51531f7e33000002_005":"Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.","533ea8fcc45e133714000010_015":"For eukaryotic selenoprotein mRNAs, it has been proposed that a conserved stem-loop structure designated the Sec insertion sequence (SECIS) in the 3'-untranslated (3'-UTR) region is required for recognition of UGA as a Sec codon","52bf1b0a03868f1b06000009_003":"Wilson's disease (WD), or hepatolenticular degeneration, is an autosomal recessive inheritance disorder of copper metabolism caused by ATP7B gene mutation. ","54edf81f94afd61504000014_006":"Finally, we demonstrated co-localization in the nucleus between transfected FANCA and BRG1.","56ecfd572ac5ed1459000002_001":"Further, new orally administered second-generation PI oprozomib is being investigated. ","58a32efe60087bc10a000013_010":"Vancomycin MIC creep in methicillin-resistant Staphylococcus aureus (MRSA) isolates from 2006 to 2010 in a hospital in China","571f5c150fd6f91b68000009_014":"Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA) and which is associated with abnormal intramitochondrial iron handling","550342a8f8aee20f27000002_007":"Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome).","587e2300fc7e8dd84f000004_006":"DNA methylation profiling of pediatric brain tumors offers a new way of diagnosing and subgrouping these tumors which improves current clinical diagnostics based on histopathology. 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","56ffdc1ccf1c32585100000b_002":"A-to-I editing events in normal and cancerous human keratinocytes","56c1f003ef6e394741000039_011":"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.","5a871a6861bb38fb24000009_009":"Rearrangements in ALK gene and EML4 gene were first described in 2007. This genomic aberration is found in about 2%-8% of non-small-cell lung cancer (NSCLC) patients","58a2e5f760087bc10a000007_012":"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","5a7617b183b0d9ea66000022_005":"Rilotumumab is an investigational, fully human, monoclonal antibody immunoglobulin G2 against hepatocyte growth factor (HGF) that blocks the binding of HGF to its receptor MET and has shown trends toward improved survival in a phase 2 clinical trial in gastric cancer.","51651e24298dcd4e51000054_004":"Forty-three 2-[(benzotriazol-1\/2-yl)methyl]benzimidazoles, bearing either linear (dialkylamino)alkyl- or bulkier (quinolizidin-1-yl)alkyl moieties at position 1, were evaluated in cell-based assays for cytotoxicity and antiviral activity against viruses representative of two of the three genera of the Flaviviridae family, i.e. Flaviviruses (Yellow Fever Virus (YFV)) and Pestiviruses (Bovine Viral Diarrhoea Virus (BVDV)), as Hepaciviruses can hardly be used in routine cell-based assays.","589a246078275d0c4a00002a_004":"CONCLUSIONS: In the TEMSO extension, safety observations were consistent with the core trial, with no new or unexpected AEs in patients receiving teriflunomide for up to 9 years.","531464a6e3eabad021000014_060":" The mRNA expression pattern of one of them, designated as XK, correlates closely to the McLeod phenotype.","56d85e7751531f7e33000001_004":" 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.","5a742d620384be9551000002_002":"The STOP-BANG questionnaire improves the detection of epilepsy patients at risk for obstructive sleep apnea.","58dcb47c8acda34529000020_003":"Physical interaction between the transactivation domain (TAD) of the mixed-lineage leukemia protein (MLL) and the KIX domain of the cyclic-AMP response element binding protein (CREB) binding protein (CBP) is necessary for MLL-mediated transcriptional activation.","5ac725250340b9f058000006_001":"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. ","5343fc1aaeec6fbd07000003_013":"Loss of heterozygosity (LOH) of NF1","551fd9c06b348bb82c000012_012":"The Recognition of Stroke in the Emergency Room (ROSIER) scale: development and validation of a stroke recognition instrument.","5abcf010fcf4565872000023_007":"Carpal tunnel syndrome is a complex of symptoms as a result of compression of the median nerve in the carpal tunnel.","55421ee7ccca0ce74b000002_010":"Among many genetic lesions, mutational inactivation of p53 tumor suppressor, the \"guardian of the genome,\" is the most frequent event found in 50% of human cancers.","5a6f960fb750ff445500005c_006":"Conclusion Pharmacists who are knowledgeable on the Centor criteria are more likely to appropriately diagnose streptococcal pharyngitis and less likely to dispense antibiotics in such case.","5518e7da622b194345000004_001":" c-Jun NH2-terminal kinase (JNK)","58861d413b87a8a738000002_024":"The Davidson Trauma Scale (DTS) is a validated, 17-item, brief global assessment scale for posttraumatic stress disorder (PTSD).","5895bc397d9090f35300000b_025":"Our studies in heterozygous Slc9a6 KO female mice provide important clues for understanding the likely phenotypic range of Christianson syndrome among females heterozygous for SLC9A6 mutations and might improve diagnostic practice and genetic counseling by helping to characterize this presumably underappreciated patient\/carrier group.","53372ba3d6d3ac6a34000058_001":"Similarly, H3K36 trimethylation, a mark associated with transcription elongation, was specifically increased at the HD locus in the striatum and not in the cerebellum.","52f89fc62059c6d71c000050_009":"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).","571e12097de986d80d000017_001":"Empagliflozin (Jardiance): a novel SGLT2 inhibitor for the treatment of type-2 diabetes.","5895f18ce370baff39000001_006":"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.","5a4e50b242878bf97d000001_010":"The gene encoding topoisomerase II in yeast is unique and essential, required for both mitotic and meiotic proliferation.","56c04412ef6e39474100001b_017":"Antibodies targeting CS-1 (elotuzumab) and CD38 (daratumumab) in particular are currently undergoing advanced clinical phase II\/III trials.","5519113b622b19434500000f_009":"Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome","5a895f51fcd1d6a10c000004_001":"As recently reported, our data also suggest that chromatin loops preferentially form between CTCF binding sites oriented in a convergent manner","5343fc1aaeec6fbd07000003_020":"Neurofibromatosis 1 gene (NF1 ) fulfills the criteria of a tumor suppressor gene and is deleted or mutated heterozygously in patients with NF1","5a76160a83b0d9ea66000020_001":"BPP: a sequence-based algorithm for branch point prediction.","5a72329e2dc08e987e000006_001":"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. ","5a7237672dc08e987e000008_032":"Dabigatran etexilate (DE) dose-dependently prolonged diluted thrombin time and tail-vein bleeding time, which were reversed by idarucizumab.","5545186cbf90a13052000002_022":"Transcription coupled repair (TCR) is a nucleotide excision repair (NER) pathway that is dedicated to repair in the transcribed strand of an active gene","530cf4c54a5037880c000008_004":"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. ","58a32edd60087bc10a000012_003":"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.","55421ee7ccca0ce74b000002_025":"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.","5880aef4c872c95565000001_031":"Amongst these antibodies, elotuzumab which targets SLAMF-7 and daratumumab which targets CD38, have been recently approved by FDA for patients with relapsed\/refractory MM.","58cbb98c02b8c60953000034_041":"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","532f55fed6d3ac6a34000036_006":"utations in the glucocerebrosidase (GBA) gene cause Gaucher disease (GD)","5880b073c872c95565000003_006":"Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation.","5a7617b183b0d9ea66000022_006":"PURPOSE Rilotumumab is an investigational, fully human monoclonal antibody to hepatocyte growth factor.","5abcf0b0fcf4565872000024_001":"Finally, Leishmania species cause leishmaniasis, a disease that ranges from self-healing but scarring cutaneous lesions to fatal visceral leishmaniasis in which parasites disseminate to the liver, spleen, and bone marrow.","56b7083376d8bf8d13000001_004":"Fusarium wilt of banana (also known as Panama disease) is caused by Fusarium oxysporum f. sp. cubense","5148691bd24251bc0500002d_009":"Both anisomycin and arsenite activate the JNK pathway and, in addition, inactivate the M3\/6 phosphatase.","51585b28d24251bc0500008d_002":"We present in vitro evidence that the mammalian de novo DNA methyltransferases DNMT3A and DNMT3B, but not the maintenance enzyme DNMT1, are also redox-dependent DNA dehydroxymethylases.","5ace19420340b9f05800000a_041":"Variants of the Melanocortin 1 Receptor (MC1R) gene have been found to be associated with red hair and fair skin in humans.","5540b9800083d1bf0e000002_002":"antiparallel spectrin heterodimers","55421ee7ccca0ce74b000002_019":"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.","551fd9c06b348bb82c000012_030":"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","56ed03862ac5ed1459000004_003":"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.","533be71dfd9a95ea0d000009_008":"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","5506c3e38e1671127b00000a_035":"The effects of SEA0400, a selective inhibitor of the Na(+)\/Ca(2+) exchanger (NCX), on Na(+)-dependent Ca(2+) uptake and catecholamine (CA) release were examined in bovine adrenal chromaffin cells that were loaded with Na(+) by treatment with ouabain and veratridine. SEA0400 inhibited Na(+)-dependent (45)Ca(2+) uptake and CA release, with the IC(50) values of 40 and 100 nM, respectively.","5710e131a5ed216440000001_003":"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","569e7721ceceede94d000001_003":"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. ","5518e7da622b194345000004_013":"Jun and Fos transcriptional activities are also regulated by phosphorylation as a result of the activation of intracellular signaling cascades. In this regard, the phosphorylation of c-Jun by UV-induced JNK has been readily documented, whereas a role for Fos proteins in UV-mediated responses and the identification of Fos-activating kinases has remained elusive","5a7237672dc08e987e000008_008":"The administration of 5\u2009g of intravenous idarucizumab promptly and completely reversed the anticoagulant activity of dabigatran as assessed by routine and specific coagulation assays (aPTT from to 75 to 26\u2009s, PT from 26 to 11\u2009s and diluted thrombin time from 92 to 27\u2009s).","5506c3e38e1671127b00000a_004":"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.","55032efde9bde69634000035_004":"The calcitonin gene-related peptide (CGRP) receptor antagonists (gepants)-olcegepant (BIBN 4096 BS), telcagepant (MK-0974), MK3207, and BI 44370 TA-are effective in treating acute migraine. ","5313058de3eabad02100000e_008":"Bertolotti's syndrome refers to the association of back pain with lumbosacral transitional vertebrae. ","51542e44d24251bc05000081_007":"Somatic mutations in the epidermal growth factor receptor (EGFR) gene are associated with the responses to the tyrosine kinase inhibitors gefitinib and erlotinib in patients with non-small-cell lung cancer (NSCLC).","5519113b622b19434500000f_023":"Haploinsufficiency of a gene termed ZFHX1B (also known as SIP1) on chromosome 2 is responsible for this condition, and clinical genetic testing for MWS recently became available","58cbb98c02b8c60953000034_056":"In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye.","5ac138aa95d0062724000001_001":"Nardilysin (N-arginine dibasic convertase; Nrdc) is a metalloendopeptidase of the M16 family that promotes ectodomain shedding of the precursor forms of various growth factors and cytokines by enhancing the protease activities of a disintegrin and metalloproteinase (ADAM) proteins.","58bca2f302b8c6095300000c_006":"While the classic karyotype related to Turner's syndrome is 45,X, the majority of those affected actually have a mosaic chromosomal complement, most often with a second normal cell line (46,XX).","571f5c150fd6f91b68000009_010":"Friedreich ataxia is a human neurodegenerative and myocardial disease caused by decreased expression of the mitochondrial protein frataxin.","551fd9c06b348bb82c000012_021":"Evaluation of the Recognition of Stroke in the Emergency Room (ROSIER) scale in Chinese patients in Hong Kong.","52c7275103868f1b0600001c_002":"The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented.","55192892622b194345000012_004":"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.","588f8e9794c1512c50000005_005":"methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles","56c1f01def6e394741000045_005":"On the basis of these and other data, orteronel is not undergoing further development in metastatic castration-resistant prostate cancer.","551fd9c06b348bb82c000012_005":"Can the FAST and ROSIER adult stroke recognition tools be applied to confirmed childhood arterial ischemic stroke?","51651e24298dcd4e51000054_006":"The family Flaviviridae contains three genera of positive-strand RNA viruses, namely, Flavivirus, Hepacivirus (e.g., hepatitis C virus [HCV]), and Pestivirus.","52bf1f1303868f1b06000014_006":"Peroxiredoxin 2 (Prx2) is an antioxidant enzyme that uses cysteine residues to decompose peroxides.","5891f9e549702f2e01000002_012":"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","5abcf010fcf4565872000023_002":"We believe that median nerve epineurectomy is unnecessary in the surgical management of primary CTS since it has no influence on the midterm","5a86f074faa1ab7d2e00003a_003":"Loss of SMARCB1\/INI1 expression is considered to be a hallmark for childhood chordomas (CCs)","550739cf3b8a5dc045000002_004":"A polyadenylation signal (AAUAAA) nearby the 3' end of pre-mRNA is required for poly(A) synthesis. ","58eb9542eda5a57672000007_027":"Cajal bodies (CB) are subnuclear domains that contain various proteins with diverse functions including the CB marker protein coilin.","58d8e6818acda3452900000a_013":"[Screening of FBN1 gene mutations in a family with Marfan syndrome].","58861d413b87a8a738000002_021":"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.","5708a845cf1c32585100000f_003":"Dishevelled (DVL) proteins, three of which have been identified in humans, are highly conserved components of canonical and noncanonical Wnt signaling pathways.","55054f8af73303d458000002_020":"Coupled with more traditional archaeological methods, stable carbon isotope analysis of bone collagen can significantly enhance reconstruction of dietary patterns of prehistoric humans.","58a32efe60087bc10a000013_024":"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.","55201a316b348bb82c000019_002":"The 55 S mammalian mitochondrial ribosome (referred to hereafter as \"mitoribosome\") is protein-rich, containing nearly twice as much protein as the Escherichia coli ribosome. ","58eb9542eda5a57672000007_001":"Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively","5506c3e38e1671127b00000a_019":"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.","5a8980d2fcd1d6a10c00000d_006":"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)","589a246078275d0c4a00002a_003":"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).","5324a8ac9b2d7acc7e000018_060":"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","571f33bd0fd6f91b68000003_011":"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. ","5a74e9ad0384be955100000a_001":"selective estrogen receptor modulator (SERM),","54d649843706e89528000009_001":"We show that targeting PARP by the small molecule inhibitors, Olaparib ","56c1f003ef6e394741000039_006":"The neurotransmitter systems on which the development of these agents were based included serotonin for ondansetron and lorcaserin, dopamine for varenicline, substance P (or neurokinin) for aprepitant, melatonin for ramelteon, and orexin for suvorexant. The indications were chemotherapy-induced nausea and vomiting for ondansetron and aprepitant, smoking cessation for varenicline, weight loss for lorcaserin, and insomnia for suvorexant and ramelteon.","58e3d9ab3e8b6dc87c000002_002":"This contrasts with the Prader-Willi syndrome (PWS) in which a similar deletion of the paternally contributed chromosome 15 is observed.","530f900ee3eabad021000003_015":"Conclusion: the characteristic thyroid hormone function tests and brain MRI findings may allow screening of high-risk populations for a better understanding of MCT8 pathophysiology.","51631154298dcd4e5100004e_008":"In patients with multiple myeloma or non-Hodgkin's lymphoma, co-administration of rifampicin decreased the exposure to bortezomib but did not affect the proteasome inhibition or safety profiles; co-administration of dexamethasone did not affect the exposure to bortezomib, proteasome inhibition or safety profiles.","58a6db8660087bc10a00002c_018":"This incorporation is mediated by the conserved SWR1 complex, which replaces histone H2A in canonical nucleosomes with H2A.Z in an ATP-dependent manner.","5519a7d5622b194345000015_002":"LHCII is the most abundant membrane protein on earth.","5149f494d24251bc0500004c_002":"Training clinicians how to manage an opioid overdose and administer naloxone was effective.","58d8e6818acda3452900000a_032":"Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission","550f0e4c6a8cde6b72000003_015":"DUX4's pathogenic effect in FSHD may occur transiently at or before the stage of myoblast formation to establish a cascade of gene dysregulation. This contrasts with the current emphasis on toxic effects of experimentally upregulated DUX4 expression at the myoblast or myotube stages","5a68f005b750ff4455000016_003":"OBJECTIVE: Dialectical behavior therapy (DBT) is an evidence-based psychosocial treatment with efficacy in reducing self-harm behaviors in borderline personality disorder (BPD). ","56c8f4615795f9a73e00001a_005":"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. ","5a7237672dc08e987e000008_019":"Idarucizumab is a humanized monoclonal antibody fragment for reversal of the anticoagulant effects of dabigatran.","5a74e9ad0384be955100000a_007":" selective estrogen receptor modulator (SERM)","56d1da3b67f0cb3d66000006_001":"Three periods of regulatory innovation during vertebrate evolution.","550c3d45a103b78016000008_002":"Alpha-synuclein, a main component of Lewy bodies in synucleinopathies and senile plaques in Alzheimer disease, is centrally involved in neurodegeneration","5a67c497b750ff4455000012_001":"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.","5a68f005b750ff4455000016_016":"A central component of Dialectical Behavior Therapy (DBT) is the teaching of specific behavioral skills with the aim of helping individuals with Borderline Personality Disorder (BPD) replace maladaptive behaviors with skillful behavior.","52fe58f82059c6d71c00007a_003":"Multiple orc\/cdc6-associated replication origins were predicted in all of the analyzed haloarchaeal genome","5717dbfe7de986d80d000001_004":"Mitochondrial fission requires the dynamin GTPase Drp1, which assembles in a ring around the mitochondrion and appears to constrict both outer and inner mitochondrial membranes.","56c8274f5795f9a73e00000d_005":"In amyotrophic lateral sclerosis, spasticity is traditionally thought to be the result of degeneration of the upper motor neurons in the cerebral cortex, although degeneration of other neuronal types, in particular serotonergic neurons, might also represent a cause of spasticity. ","56ed03862ac5ed1459000004_006":"Quantitative proteomic analysis of cellular protein modulation upon inhibition of the NEDD8-activating enzyme by MLN4924.","511a3573df1ebcce7d000018_010":"The human kallikrein gene family consists of 15 serine proteases.","58edf567eda5a57672000011_003":"In silico analysis of the DosR regulon in BCG and M. tuberculosis showed at least 97% amino acid sequence homology, with 41 out of 48 genes being identical.","552fac4fbc4f83e828000006_001":"Ewing sarcoma is the second most common bone malignancy in children and young adults. It is driven by oncogenic fusion proteins (i.e. EWS\/FLI1) acting as aberrant transcription factors that upregulate and downregulate target genes, leading to cellular transformation","55376f19bc4f83e82800000c_005":"Medulloblastoma, the most common pediatric brain tumor, is thought to arise from deregulated proliferation of cerebellar granule precursor (CGP) cells.","5a6a3464b750ff4455000026_004":"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.","58cbb98c02b8c60953000034_070":"Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).","532dcfc9d6d3ac6a34000021_022":"the evolutionarily conserved SET domain, which requires adjacent cysteine-rich regions to confer histone methyltransferase activity","587e2300fc7e8dd84f000004_014":"We developed an R package that implements the MethPed classifier, making it easily available and accessible.","5ac3699f0340b9f058000001_002":"We summarize recent case studies and genome-wide investigations that have uncovered diverse mechanisms though which new enhancers arise","56e0447a51531f7e3300000b_004":"Viroids are small, circular, single-stranded RNA molecules that cause several infectious plant diseases. ","589d965a78275d0c4a000049_017":"Here we present the first direct evidence that miRNA genes are transcribed by RNA polymerase II (pol II).","56c048acef6e39474100001c_014":"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.","5a6fa61ab750ff4455000060_002":"Microsatellites are genomic sequences comprised of tandem repeats of short nucleotide motifs widely used as molecular markers in population genetics. FullSSR is a new bioinformatic tool for microsatellite (SSR) loci detection and primer design using genomic data from NGS assay.","5a774fdcfaa1ab7d2e000008_025":"However, overexpression of TIRR impedes 53BP1 function by blocking its localization to double-strand breaks.","5a774fdcfaa1ab7d2e000008_018":"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.","5506c3e38e1671127b00000a_033":"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.","5139b31dbee46bd34c000004_002":"Experimental autoimmune encephalomyelitis (EAE), a widely recognized animal model of multiple sclerosis (MS)","514a0a57d24251bc05000051_043":"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).","53357193d6d3ac6a34000047_021":"Moreover, induction of IL-10 production by DCs can be one mechanism of action of the JAK inhibitor (tofacitinib) which have shown high efficiency on active rheumatoid arthritis in clinical trials.","531464a6e3eabad021000014_020":"The different XK mutations may have different effects upon the XK gene product and thus may account for the variable phenotype.","5a871a6861bb38fb24000009_005":"Genetic rearrangements involving the tyrosine kinase anaplastic lymphoma kinase (ALK) gene occur in non-small cell lung cancer (NSCLC), anaplastic large cell lymphomoas, inflammatory myofibroblastic tumors, and other cancers.","56bc77a3ac7ad10019000015_032":"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.","56ed03862ac5ed1459000004_019":"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.","5a68f448b750ff4455000018_009":"erythrasma is a superficial skin infection caused by corynebacterium minutissimum interdigital erythrasma is the most common form and is easily confused with tinea pedis the aim of this study was to determine the prevalence of interdigital erythrasma in patients with clinically suspected tinea pedis this study was performed between january 1 2011 and january 31 2012 it included 182 patients who presented with concerns about interdigital lesions all of the patients were examined with a wood s lamp and smears were stained with gram s method direct examination with 20 potassium hydroxide was performed of 182 patients with interdigital lesions 73 40 1 were diagnosed as having erythrasma the mean sd age of the patients with erythrasma was 45 52 10 83 years range 22 70 years most of the patients with erythrasma were women 56 2 the most often clinical finding was desquamation using only wood s lamp examination or gram s staining resulted in 31 42 5 or 14 19 2 positive patients respectively using wood s lamp examination and gram s staining concurrently resulted in 28 positive patients 38 4 interdigital erythrasma is a common condition and can be difficult to differentiate from tinea pedis simple and rapid diagnosis can be made with wood s lamp examination but gram s staining is also a useful method especially in patients with negative wood s lamp examination findings.","58eb9542eda5a57672000007_025":"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.","58d8e6818acda3452900000a_033":"Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders","5324a8ac9b2d7acc7e000018_002":"The availability of tyrosine kinase inhibitors (TKIs) has considerably changed the management of Philadelphia chromosome positive leukemia. The BCR-ABL inhibitor imatinib i","58ce9bf1d46b5c2951000002_001":"SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia\/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia.","55032e65e9bde69634000034_002":"Acquired cerebral hemiatrophy: Dyke-Davidoff-Masson Syndrome - a case report.","517194ef8ed59a060a000011_002":"It is well established that protection against one such disease, malaria, requires strong CD8(+) T cell responses targeted against the liver stages of the causative agent, Plasmodium spp.","533ea8fcc45e133714000010_021":"stem-loops and critical nucleotides similar to those in the SECIS elements ","55376f19bc4f83e82800000c_001":"Medulloblastoma (MDB) is the most common malignant cerebellar tumor in children","5880b073c872c95565000003_014":"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. ","58e7902b3e8b6dc87c000007_002":"Gene expression analysis of peripheral blood cells from patients with rheumatoid arthritis and multiple sclerosis demonstrate an interferon signature similar to but less intense than that seen in patients with lupus.","5a8b1264fcd1d6a10c00001d_010":"Fusarium oxysporum f. sp. radicis-lycopersici, the causal agent of Fusarium crown and root rot of tomato,","5324a8ac9b2d7acc7e000018_059":"Chronic myelogenous leukemia (CML) is characterized by a molecular aberration, a fusion BCR-ABL gene encoding for aberrant tyrosine kinase activity, which is crucial in the pathogenesis of CML. In vitro, inhibition of BCR-ABL protein tyrosine kinase activity by a tyrosine kinase inhibitor, Imatinib mesylate","587e3129c32c812009000002_005":"traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals.","550f0e4c6a8cde6b72000003_027":"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.","533ea8fcc45e133714000010_007":"recoding of UGA as Sec depends on the selenocysteine insertion sequence (SECIS) element, a stem-loop structure in the 3' untranslated region of the transcript","550f0e4c6a8cde6b72000003_045":"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","58a57f9460087bc10a00001f_003":"For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome.","589317e849702f2e01000005_002":"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.","5519113b622b19434500000f_012":"In conclusion, molecular genetic analysis of ZFHX1B is important for a definite diagnosis of MWS which has a wide phenotypic spectrum of congenital anomalies.","58bfd8e902b8c60953000018_006":"Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus","5891b125621ea6ff7e00000e_010":"Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.","5ace19420340b9f05800000a_042":"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.","56d1f790f22319765a000001_015":"To overcome T790M-mediated acquired resistance of lung cancer cells to epidermal growth factor receptor tyrosine kinase inhibitors (EGFR TKIs), second generation ","56c04412ef6e39474100001b_029":"Flow cytometry experiments confirmed DARA binding to CD38+ HL60 cells, but not to CD38- controls. DTT treatment of CD38+ HL60 cells reduced DARA binding by 92% by denaturing cell surface CD38. ","53551206a0726bee57000001_003":"chronic cardiotoxicity represents a serious adverse effect that may be lethal due to the development of irreversible, cumulative dose-dependent, congestive cardiomyopathy","587e0116ae05ffb474000002_001":"CisMapper: predicting regulatory interactions from transcription factor ChIP-seq data","5506c3e38e1671127b00000a_012":"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.","54df695b1388e8454a000004_011":"Phenomenology of \"Lubag\" or X-linked dystonia-parkinsonism.","530cf4c54a5037880c000008_007":"Furthermore, we demonstrate that the Bruton's tyrosine kinase inhibitor ibrutinib or the PI3K inhibitor idelalisib block B-cell receptor induced activation of LCP1. ","5518e7da622b194345000004_015":"The c-Jun N-terminal kinase (JNK) pathway forms part of the mitogen-activated protein kinase (MAPK) signaling pathways comprising a sequential three-tiered kinase cascade. ","54cf7051f693c3b16b000013_004":"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).","5324a8ac9b2d7acc7e000018_012":"matinib mesylate is the sole BCR-ABL tyrosine kinase inhibitor approved as first-line treatment of accelerated-phase (AP) chronic myeloid leukemia (CML","5505db6a8e1671127b000003_002":"keratin intermediate filaments","5147c8a6d24251bc05000027_010":"Galactocerebrosidase (GALC) activity is deficient in all patients with globoid cell leukodystrophy (GLD).","55421ee7ccca0ce74b000002_030":"Oncogenic mutations of the p53 tumor suppressor: the demons of the guardian of the genome.","515db3d8298dcd4e51000015_002":"After removing IFs by calcination, electron microscopy revealed hollow silica nanotubes several micrometers long, with outer diameters of 35-55 nm and an average inner diameter of 10 nm (comparable to that of IFs)","533be71dfd9a95ea0d000009_006":"The biological function of MLL1 is mediated by the histone H3K4 methyltransferase activity of the carboxyl-terminal SET domain.","5a70d42899e2c3af26000002_001":"Mutations in SLC2A10, a gene that encodes the facilitative glucose transporter GLUT10, cause ATS.","5895f7e978275d0c4a000001_010":"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. ","56c1f020ef6e394741000047_003":"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. ","589d965a78275d0c4a000049_001":"Previous studies in vivo reported that processing of primary microRNA (pri-miRNA) is coupled to transcription by RNA polymerase II (RNAP II) and can occur co-transcriptionally. ","516e7fda298dcd4e51000081_006":"The enzyme was capable of transferring methyl groups to selected lysine residues in a substrate protein using S-adenosyl-l-methionine (SAM) as the methyl donor.","5a75f6e083b0d9ea66000009_003":"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.","5506c3e38e1671127b00000a_049":"These results indicate that SEA0400 is a potent and highly selective inhibitor of NCX, and would be a powerful tool for further studies on the role of NCX in the heart and the therapeutic potential of its inhibition.","58a32edd60087bc10a000012_004":"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.","5343caffaeec6fbd07000002_004":"human, bovine and rodent selenoprotein P genes encode proteins containing 10-12 selenocysteines","52c7275103868f1b0600001c_003":"Apert syndrome, or acrocephalosyndactyly, is characterized by craniosynostosis and early epiphyseal closure resulting in various deformities of the skull, hands, and feet. Typically a sporadic condition, autosomal dominant inheritance with complete penetrance has been known to occur. ","571e12097de986d80d000017_007":"Pharmacokinetics of empagliflozin, a sodium glucose cotransporter-2 (SGLT2) inhibitor, and metformin following co-administration in healthy volunteers.","58a95c711978bbde22000001_001":"The antibody aducanumab reduces A\u03b2 plaques in Alzheimer's disease.","5a7428090384be9551000001_007":"The immunoturbidimetric and rapid enzyme-linked immunosorbent assay d -dimer assays had similar sensitivities (94%) and specificities (45% versus 46%).<br><b>CONCLUSION<\/b>: Wells Criteria have a moderate to substantial interrater agreement and reliably risk stratify pretest probability in patients with suspected pulmonary embolism.<br>","589a246078275d0c4a00002a_032":"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.","5157539ed24251bc0500008a_002":"Compelling evidence indicates that the CRISPR-Cas system protects prokaryotes from viruses and other potential genome invaders.","54e0c3e71388e8454a000013_013":"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","52fa6ac72059c6d71c000055_017":"ach1 is a transcriptional repressor of heme oxygenase-1 and beta-globin genes,","550f0e4c6a8cde6b72000003_009":"Recent studies have provided a plausible disease mechanism for FSHD in which FSHD results from inappropriate expression of the germline transcription factor DUX4.","58cbb98c02b8c60953000034_039":"Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species","550f0e4c6a8cde6b72000003_012":"Recent studies have proposed that FSHD pathology is caused by the misexpression of the DUX4 (double homeobox 4) gene resulting in production of a pathogenic protein, DUX4-FL, which has been detected in FSHD, but not in unaffected control myogenic cells and muscle tissue.","572096c90fd6f91b6800000e_002":"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","54f1e031c409818c32000001_006":"DX-88 (ecallantide), a 60-amino acid recombinant protein discovered through phage display technology, is a highly specific, potent inhibitor of human plasma kallikrein that has been used successfully in the treatment of patients experiencing acute HAE attacks.","5a774fdcfaa1ab7d2e000008_024":"Depletion of TIRR destabilizes 53BP1 in the nuclear-soluble fraction and alters the double-strand break-induced protein complex centring 53BP1.","530cf4e0c8a0b4a00c000006_004":"Hypertrophic cardiomyopathy (HCM) is regarded as the most common cause of sudden cardiac death in young people (including trained athletes). ","5a9dad764e03427e73000007_001":"To explore and compare sociodemographic, clinical, and neuropsychiatric determinants of dropout and nonadherence in older people participating in an open-label cluster-randomized controlled trial-the Prevention of Dementia by Intensive Vascular care (preDIVA) trial-over 6 years.","5324a8ac9b2d7acc7e000018_031":"Imatinib was the first small molecule developed to inhibit BCR-ABL tyrosine kinase ","52bf1b0a03868f1b06000009_007":"The patient was considered heterozygote for hemochromatosis on the basis of the autosomal recessive inheritance for hemochromatosis, the frequency of the hemochromatosis gene, and the laboratory parameters defining her iron overload. ","5891f9e549702f2e01000002_042":"The relationship among restless legs syndrome (Willis-Ekbom Disease), hypertension, cardiovascular disease, and cerebrovascular disease.","5710a592cf1c32585100002a_011":"Here we show that transcription of atxA does not appear to differ in cells grown in 5% CO2 compared with cells grown in air.","5717dbfe7de986d80d000001_011":"Role of dynamin-related protein 1 (Drp1)-mediated mitochondrial fission in oxygen sensing and constriction of the ductus arteriosus.","58d8e6818acda3452900000a_025":"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.Among 18 MS patients with the phenotype of MS meeting inclusion criteria 15 have had a FBN1 gene mutation","550f0e4c6a8cde6b72000003_008":"Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. ","5ac725250340b9f058000006_003":"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. ","52b2e498f828ad283c000010_002":"To investigate the mutation at the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) nucleotide 1138 site for identifying the major pathologic mechanism of achondroplasia (ACH) and to evaluate the efficacy of denaturing gradient gel electrophoresis(DGGE) method for screening the point mutations. ","55242d512c8b63434a000006_025":"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","589d965a78275d0c4a000049_003":"Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II)","530cf4c54a5037880c000008_009":"We conducted a phase 1b-2 multicenter study to assess the safety, efficacy, pharmacokinetics, and pharmacodynamics of ibrutinib (PCI-32765), a first-in-class, oral covalent inhibitor of BTK designed for treatment of B-cell cancers, in patients with relapsed or refractory CLL or small lymphocytic lymphoma.","58bca2f302b8c6095300000c_008":"Monosomy for the X chromosome is the most frequent cause of Turner's syndrome, a common clinical syndrome associated with particular physical and neurobehavioral features.","530cefaaad0bf1360c000012_021":"Diurnal effects on motor control are evident in the human disease of Restless Leg Syndrome (RLS), which is purported to be linked to brain iron deficiency as well as alterations in dopaminergic systems. ","56b330bb39c782df06000001_004":"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)","56b1f4300a360a5e4500001b_002":"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.","572096c90fd6f91b6800000e_003":"Giant Axonal Neuropathy is a pediatric neurodegenerative disorder caused by autosomal recessive mutations in the GAN gene on chromosome 16q24.1","5a774fdcfaa1ab7d2e000008_013":"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.","52fa6ac72059c6d71c000055_020":"Bach1, a heme-regulated transcriptional repressor","55032efde9bde69634000035_006":"The potent calcitonin gene-related peptide receptor antagonist, telcagepant, does not affect nitroglycerin-induced vasodilation in healthy men.","58e9e7aa3e8b6dc87c00000d_018":"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.","51585b28d24251bc0500008d_018":"DNA methyltransferase-1 (DNMT1) has a higher specific activity on hemimethylated DNA than on unmethylated DNA, but this preference is too small to explain the faithful mitotic inheritance of genomic methylation patterns. New genetic studies in plants and mammals have identified a novel factor that increases the fidelity of maintenance methylation.","552421082c8b63434a000005_001":"The BRCA1 protein displays E3 ubiquitin ligase activity, and this enzymatic function is thought to be required for tumor suppression.","56d860ad51531f7e33000002_009":"OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) \/H(+) exchanger 6 (NHE6). ","55200c606b348bb82c000013_016":"Betrixaban is an oral direct inhibitor of factor Xa (FXa) being developed for the prevention of venous thromboembolism (VTE).","5353aedb288f4dae47000006_031":"Xist (X inactive specific transcript) gene plays an essential role in X chromosome inactivation.","56bc751eac7ad10019000013_007":"Bazex syndrome: acrokeratosis paraneoplastica.","5ace19420340b9f05800000a_021":"Red hair is the null phenotype of MC1R.","530cf4e0c8a0b4a00c000006_010":"Hypertrophic cardiomyopathy (HCM) is the most common cause of death in the young, particularly in young competitive athletes.","56b7083376d8bf8d13000001_002":"avendish, the most widely grown banana cultivar, is relatively resistant to Race 1 of Fusarium oxysporum f. sp. cubense (Foc1) which caused widespread Panama disease during the first half of the 20th century but is susceptible to Tropical Race 4 of Foc (Foc TR4) which is threatening world banana production. ","5890fde5621ea6ff7e000009_002":"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.","5895bc397d9090f35300000b_023":"A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.","550f0e4c6a8cde6b72000003_033":"DUX4, a homeobox-containing gene present in a tandem array, is implicated in facioscapulohumeral muscular dystrophy (FSHD), a dominant autosomal disease. ","5ace238e0340b9f05800000d_013":"We investigate the most recent product of a chromosome fusion event fixed in the human lineage, human chromosome 2, whose stability was acquired by the suppression of one centromere, resulting in a unique difference in chromosome number between humans (46 chromosomes) and our most closely related ape relatives (48 chromosomes).","514a0a57d24251bc05000051_017":"Flumazenil is effective in preventing recurrence of benzodiazepine-induced coma.","5a6a3464b750ff4455000026_010":"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.","5506c3e38e1671127b00000a_016":"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.","56f961b3cf1c325851000003_002":"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 ","55200c606b348bb82c000013_009":"Apixaban, betrixaban, edoxaban, and rivaroxaban are small-molecule, selective inhibitors that directly and reversibly bind to the active site of factor Xa. ","5a6f960fb750ff445500005c_012":"to determine the validity of the rapid antigen test rat osom strepa genzyme for the diagnosis of acute pharyngitis caused by group a beta haemolytic strep gabhs diagnostic techniques survey urban primary care centre spain all patients over 14 years old seen in 6 surgeries with sore throat and 2 or more centor criteria pharyngotonsillar exudate tender laterocervical nodes absence of coughing and or history or presence of fever pharyngeal swabs were taken from all the patients one for rat and another to send for culture in the microbiology department a total of 182 patients were evaluable with a mean age of 30 6 12 1 years of which 116 were women 63 7 63 patients had 2 centor criteria 83 had 3 and 36 the 4 criteria the culture was positive in 102 patients 56 with gabhs showing infection in forty 22 95 confidence interval ci 21 2 22 8 group c streptococcus was isolated in 26 patients 14 3 gabhs was higher among patients with four centor criteria 38 9 vs 25 3 observed among those with 3 criteria and 7 9 with 2 criteria p 001 sensitivity of rat was 95 with a specificity of 93 a positive predictive value of 79 2 and a negative predictive value of 98 5 these results show the usefulness of rat for diagnosing streptococcal pharyngitis its use should be spread to all primary care practices.","5540fbce234c5a7c75000001_001":"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.","58bc8e7a02b8c60953000007_007":"Plantar fasciitis, a self-limiting condition, is a common cause of heel pain in adults. It affects more than 1 million persons per year, and two-thirds of patients with plantar fasciitis will seek care from their family physician","56c1f020ef6e394741000047_018":"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.","5710a592cf1c32585100002a_002":"Furthermore, in vitro in presence of CO2 and in vivo, AtxA is part of the sap and eag regulatory network. ","572096c90fd6f91b6800000e_011":"A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family","5a774fdcfaa1ab7d2e000008_016":"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.","532dcfc9d6d3ac6a34000021_006":"Polycomb repressive complex 2 (PRC2), which methylates lysine 27 of histone H3. Information on how PRC2 works is limited by lack of structural data on the catalytic subunit, Enhancer of zeste (E(Z)), and the paucity of E(z) mutant alleles that alter its SET domain.","514a0a57d24251bc05000051_048":"Side effects were few and the results indicate that flumazenil is effective in the primary management of benzodiazepine overdose and in states where benzodiazepines have been taken with other drugs.","52bf1b0a03868f1b06000009_006":"Wilson's disease is a treatable movement disorder with autosomal recessive inheritance which is associated with severe morbidity and mortality if not treated early. ","5a4df811966455904c00000e_015":"The amino and carboxyl regions of C11 are homologous to domains of the pol II subunit Rpb9p, and the pol II elongation and RNA cleavage factor, TFIIS, respectively.","58aa0c6f396a458e50000008_002":"Neuropeptide hormone oxytocin has roles in social bonding, energy metabolism, and wound healing contributing to good physical, mental and social health. ","56c3184050c68dd416000003_007":"Evaluation of the safety and efficacy of isradipine in elderly patients with essential hypertension. ","589185cc621ea6ff7e00000b_017":"We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension.","516e7fda298dcd4e51000081_001":"Based on known SET domain structures, the mutations likely affect either the lysine-substrate binding pocket, the binding site for the adenosylmethionine methyl donor, or a critical tyrosine predicted to interact with the substrate lysine epsilon-amino group","5519113b622b19434500000f_003":"A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene","58eb99f3eda5a57672000009_003":"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?","58d8e6818acda3452900000a_015":"Three diagnostic classifications comprising first, Marfan genotype with a causative FBN1 gene mutation; second, Marfan phenotype with clinical criteria of the original Ghent nosology (Ghent-1); and third, phenotype with clinical criteria of its current revision (Ghent-2) in 300 consecutive persons referred for confirmation or exclusion of Marfan syndrome (150 men, 150 women aged 35 \u00b1 13 years) were used.","58cbb98c02b8c60953000034_027":"Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).","56cf3f4f3975bb303a000008_002":" Using rodent-human somatic cell hybrids containing all or part of the human X chromosome, we have mapped these fragments to the region Xp21-p11.","589a246078275d0c4a00002a_020":"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. ","5abcf010fcf4565872000023_004":" CTS, which may occur in as many as 25% of patients who undergo carpal tunnel release, most commonly results from an incomplete transverse carpal ligament release or an incorrect initial diagnosis. Patients with recurrent symptoms often have perineural fibrosis that tethers the median nerve.","51585b28d24251bc0500008d_009":"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.","551fd9c06b348bb82c000012_026":"The simpler FAST scale could replace the more complex ROSIER for the initial assessment of patients with suspected acute stroke in the emergency department.","5353aedb288f4dae47000006_005":"Xist (X-inactive specific transcript) is a major effector of the X-inactivation process","56ecfd572ac5ed1459000002_010":"Carfilzomib and its orally bioavailable structural analog oprozomib are second-generation, highly-selective, proteasome inhibitors. ","5353aedb288f4dae47000006_030":" X inactive-specific transcript (Xist) is thought to be essential for the initiation of X chromosome inactivation and dosage compensation during female embryo development","5a7877c0faa1ab7d2e00000c_009":"Corticosteroids are used as first-line treatment in organ-threatening sarcoidosis.","56bc7d71ac7ad10019000018_002":"Delamanid (Deltyba(\u00ae)), a nitroimidazo-oxazole derivative, is a new anti-tuberculosis (TB) drug which exhibits potent in vitro and in vivo antitubercular activity against drug-susceptible and -resistant strains of Mycobacterium tuberculosis. ","58e7902b3e8b6dc87c000007_003":"Patients with systemic lupus erythematosus, Sj\u00f6gren's syndrome, dermatomyositis, psoriasis, and a fraction of patients with rheumatoid arthritis display a specific expression pattern of interferon-dependent genes in their leukocytes, termed the interferon signature.","5a742d620384be9551000002_017":"STUDY OBJECTIVE To determine if a high score (\u2265 3) on the STOP-Bang screening questionnaire for obstructive sleep apnea (OSA) predicts whether obese patients are at high risk for OSA and increased risk of difficult airway."},"answers":{"58a57f9460087bc10a00001f_030":{"text":["MITF"],"answer_start":[17]},"514a0a57d24251bc05000051_012":{"text":["flumazenil"],"answer_start":[44]},"5a74e9ad0384be955100000a_002":{"text":["selective estrogen receptor modulator"],"answer_start":[32]},"51585b28d24251bc0500008d_011":{"text":["DNMT1"],"answer_start":[56]},"51585b28d24251bc0500008d_008":{"text":["DNMT1"],"answer_start":[214]},"5ac0a82d19833b0d7b000003_001":{"text":["100%"],"answer_start":[100]},"56bc77a3ac7ad10019000015_006":{"text":["malaria"],"answer_start":[187]},"5a6f960fb750ff445500005c_011":{"text":["streptococcal pharyngitis"],"answer_start":[1914]},"58a57f9460087bc10a00001f_004":{"text":["MITF"],"answer_start":[26]},"5a8980d2fcd1d6a10c00000d_002":{"text":["UCP1"],"answer_start":[244]},"54df695b1388e8454a000004_016":{"text":["X-linked dystonia-parkinsonism"],"answer_start":[172]},"550af222c2af5d5b7000000b_001":{"text":["SCF(\u03b2-TrCP)"],"answer_start":[132]},"5710e131a5ed216440000001_002":{"text":["chromosome XII"],"answer_start":[77]},"58f3ca5c70f9fc6f0f00000d_003":{"text":["cereal 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