context stringlengths 155 6.27k | question stringlengths 13 168 | id stringlengths 28 28 | answers dict |
|---|---|---|---|
Antibody-Dependent Cellular Cytotoxicity Activity of a Novel Anti-PD-L1 Antibody Avelumab (MSB0010718C) on Human Tumor Cells. Several anti-PD-1/PD-L1 monoclonal antibodies (mAb) are currently providing evidence of clinical benefit in subsets of cancer patients. The mode of action of these mAbs is to inhibit PD-1 on imm... | What molecule is targeted by Avelumab? | 5884c72fe56acf517600000f_015 | {
"answer_start": [
1603
],
"text": [
"PD-L1"
]
} |
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. GALC is responsible for the lysosomal catabolism... | Which enzyme is deficient in Krabbe disease? | 5147c8a6d24251bc05000027_012 | {
"answer_start": [
234
],
"text": [
"galactocerebrosidase"
]
} |
Evaluation of three chromogenic media (MRSA-ID, MRSA-Select and CHROMagar MRSA) and ORSAB for surveillance cultures of methicillin-resistant Staphylococcus aureus. Screening specimens were homogenised in saline 0.9% w/v before either direct inoculation or following enrichment in broth on three chromogenic media (MRSA-I... | What is MRSA? | 58a32efe60087bc10a000013_083 | {
"answer_start": [
438
],
"text": [
"MRSA"
]
} |
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. 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 tr... | Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4? | 550f0e4c6a8cde6b72000003_047 | {
"answer_start": [
135
],
"text": [
"FSHD"
]
} |
SECISaln, a web-based tool for the creation of structure-based alignments of eukaryotic SECIS elements. SUMMARY: Selenoproteins contain the 21st amino acid selenocysteine which is encoded by an inframe UGA codon, usually read as a stop. In eukaryotes, its co-translational recoding requires the presence of an RNA stem-l... | What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins? | 533ea8fcc45e133714000010_009 | {
"answer_start": [
339
],
"text": [
"SECIS"
]
} |
[Therapeutic monoclonal antibodies against multiple myeloma]. 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 antige... | What is the target of daratumumab? | 5880aef4c872c95565000001_034 | {
"answer_start": [
500
],
"text": [
"CD38"
]
} |
Should we conduct a trial of distributing naloxone to heroin users for peer administration to prevent fatal overdose? Heroin overdose is a major cause of death among heroin users, and often occurs in the company of other users. However, sudden death after injection is rare, giving ample opportunity for intervention. Na... | Which medication should be administered when managing patients with suspected acute opioid overdose? | 5149f494d24251bc0500004c_005 | {
"answer_start": [
598
],
"text": [
"naloxone"
]
} |
LepChorionDB, a database of Lepidopteran chorion proteins and a set of tools useful for the identification of chorion proteins in Lepidopteran proteomes. Chorion proteins of Lepidoptera have a tripartite structure, which consists of a central domain and two, more variable, flanking arms. The central domain is highly co... | Which database is available for the identification of chorion proteins in Lepidopteran proteomes? | 554148c23f2354b713000001_005 | {
"answer_start": [
0
],
"text": [
"LepChorionDB"
]
} |
DNA 5-methylcytosine demethylation activities of the mammalian DNA methyltransferases. Methylation at the 5-position of DNA cytosine on the vertebrate genomes is accomplished by the combined catalytic actions of three DNA methyltransferases (DNMTs), the de novo enzymes DNMT3A and DNMT3B and the maintenance enzyme DNMT1... | Which enzyme is involved in the maintenance of DNA (cytosine-5-)-methylation? | 51585b28d24251bc0500008d_039 | {
"answer_start": [
315
],
"text": [
"DNMT1"
]
} |
About three cases of ulceroglandular tularemia, is this the re-emergence of Francisella tularensis in Belgium? Tularemia is a zoonosis caused by Francisella tularensis that can be transmitted by several ways to human being and cause different clinical manifestations. We report three clinical cases of tularemia with ulc... | What organism causes tularemia? | 58f4b9d470f9fc6f0f000016_002 | {
"answer_start": [
145
],
"text": [
"Francisella tularensis"
]
} |
Role of orally available antagonists of factor Xa in the treatment and prevention of thromboembolic disease: focus on rivaroxaban. Interpatient variability in the safety and efficacy of oral anticoagulation with warfarin presents several challenges to clinicians, thus underscoring the emergent need for new orally avail... | Which clotting factor is inhibited by betrixaban? | 55200c606b348bb82c000013_127 | {
"answer_start": [
508
],
"text": [
"xa"
]
} |
Clinical efficacy and management of monoclonal antibodies targeting CD38 and SLAMF7 in multiple myeloma. Immunotherapeutic strategies are emerging as promising therapeutic approaches in multiple myeloma (MM), with several monoclonal antibodies in advanced stages of clinical development. Of these agents, CD38-targeting ... | What is the target of daratumumab? | 5880aef4c872c95565000001_054 | {
"answer_start": [
1600
],
"text": [
"CD38"
]
} |
FKBP12.6-mediated stabilization of calcium-release channel (ryanodine receptor) as a novel therapeutic strategy against heart failure. BACKGROUND: The development of heart failure is tightly correlated with a decrease in the stoichiometric ratio for FKBP12.6 binding to the ryanodine receptor (RyR) in the sarcoplasmic r... | The drug JTV519 is derivative of which group of chemical compounds? | 54f9b74306d9727f76000004_042 | {
"answer_start": [
366
],
"text": [
"1,4-benzothiazepine"
]
} |
Molecular and cellular effects of NEDD8-activating enzyme inhibition in myeloma. The NEDD8-activating enzyme is upstream of the 20S proteasome in the ubiquitin/proteasome pathway and catalyzes the first step in the neddylation pathway. NEDD8 modification of cullins is required for ubiquitination of cullin-ring ligases ... | Which enzyme does MLN4924 inhibit? | 56ed03862ac5ed1459000004_003 | {
"answer_start": [
504
],
"text": [
"NEDD8-activating enzyme"
]
} |
Phosphorylation and specific ubiquitin acceptor sites are required for ubiquitination and degradation of the IFNAR1 subunit of type I interferon receptor. Ubiquitination, endocytosis, and lysosomal degradation of the IFNAR1 (interferon alpha receptor 1) subunit of the type I interferon (IFN) receptor is mediated by the... | Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)? | 55192892622b194345000012_004 | {
"answer_start": [
324
],
"text": [
"beta-Trcp"
]
} |
Safety and efficacy of the RTS,S/AS01E candidate malaria vaccine given with expanded-programme-on-immunisation vaccines: 19 month follow-up of a randomised, open-label, phase 2 trial. BACKGROUND: The RTS,S/AS01(E) candidate malaria vaccine is being developed for immunisation of infants in Africa through the expanded pr... | RTS S AS01 vaccine was developed to prevent which disease? | 56bc77a3ac7ad10019000015_019 | {
"answer_start": [
49
],
"text": [
"malaria"
]
} |
Combined transcranial-orbital approach for resection of optic nerve gliomas: a clinical and anatomical study. PURPOSE: To describe a combined transcranial-orbital approach for en bloc resection of optic nerve gliomas with preservation of the annulus of Zinn that minimizes recurrence and prevents postoperative paralytic... | Where can you find the annulus of Zinn? | 58917c88621ea6ff7e00000a_006 | {
"answer_start": [
155
],
"text": [
"orbit"
]
} |
Explaining intermediate filament accumulation in giant axonal neuropathy. Giant axonal neuropathy (GAN)(1) is a rare autosomal recessive neurological disorder caused by mutations in the GAN gene that encodes gigaxonin, a member of the BTB/Kelch family of E3 ligase adaptor proteins.(1) This disease is characterized by t... | Which gene is involved in Giant Axonal Neuropathy? | 572096c90fd6f91b6800000e_012 | {
"answer_start": [
186
],
"text": [
"GAN gene"
]
} |
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. PURPOSE OF REVIEW: In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of ... | Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4? | 550f0e4c6a8cde6b72000003_010 | {
"answer_start": [
1154
],
"text": [
"FSHD"
]
} |
Focal cortical dysplasia in meningioangiomatosis. Meningioangiomatosis is a rare, benign, developmental, or hamartomatous lesion which may involve the leptomeninges and underlying brain parenchyma. Histologically, meningioangiomatosis is marked by a proliferation of blood vessels in the parenchyma, rimmed by collars of... | Which disorder is rated by Palmini classification? | 56c1f020ef6e394741000047_025 | {
"answer_start": [
1118
],
"text": [
"focal cortical dysplasia"
]
} |
Coeliac disease presenting as dermatitis herpetiformis in infancy. The incidence of reporting and diagnosis of coeliac disease (CD) in children is increasing with the improvement in sensitivity and specificity of screening markers. This in turn has led to an increasing awareness of gluten-sensitive enteropathy and asso... | What is the typical rash associated with gluten ? | 55180ef46487737b43000006_005 | {
"answer_start": [
482
],
"text": [
"dermatitis herpetiformis"
]
} |
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. 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 tr... | Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4? | 550f0e4c6a8cde6b72000003_046 | {
"answer_start": [
104
],
"text": [
"Facioscapulohumeral dystrophy"
]
} |
Specific antidotes against direct oral anticoagulants: A comprehensive review of clinical trials data. The Vitamin K antagonist warfarin was the only oral anticoagulant available for decades for the treatment of thrombosis and prevention of thromboembolism until Direct Oral Anticoagulants (DOACs); a group of new oral a... | Andexanet Alfa is an antidote of which clotting factor inhibitors? | 5880b073c872c95565000003_072 | {
"answer_start": [
1184
],
"text": [
"xa"
]
} |
Acrokeratosis paraneoplastica (Bazex syndrome): report of a case associated with small cell lung carcinoma and review of the literature. Acrokeratosis paraneoplastic (Bazex syndrome) is a rare, but distinctive paraneoplastic dermatosis characterized by erythematosquamous lesions located at the acral sites and is most c... | Name synonym of Acrokeratosis paraneoplastica. | 56bc751eac7ad10019000013_001 | {
"answer_start": [
31
],
"text": [
"Bazex syndrome"
]
} |
Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs. Methicillin-resistant Staphylococcus aureus (MRSA) is ... | What is MRSA? | 58a32efe60087bc10a000013_054 | {
"answer_start": [
175
],
"text": [
"MRSA"
]
} |
[SENSITIVITY OF THE NEW SKIN TEST DIASKINTEST® FOR THE DIAGNOSIS OF TUBERCULOSIS INFECTION IN CHILDREN AND ADOLESCENTS]. In Russia, an intradermal Diaskintest® drug has been designed, which is a recombinant tuberculosis allergen based on M. tuberculosis-- specific proteins: ESAT-6 and CFP-10 produced by a genetically m... | The Mantoux test detects what latent infection/disease? | 5ab147edfcf4565872000013_002 | {
"answer_start": [
520
],
"text": [
"tuberculosis"
]
} |
Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase. Dot1 is an evolutionarily conserved histone methyltransferase that methylates lysine-79 of histone H3 in the core domain. Unlike other histone methyltransferases, Dot1 does not contain a SET domain, and it specific... | What is the characteristic domain of histone methyltransferases? | 532dcfc9d6d3ac6a34000021_021 | {
"answer_start": [
293
],
"text": [
"SET domain"
]
} |
Emerging anticoagulants. Warfarin, heparin and their derivatives have been the traditional anticoagulants used for prophylaxis and treatment of venous thromboembolism. While the modern clinician is familiar with the efficacy and pharmacokinetics of these agents, their adverse effects have provided the impetus for the d... | Which clotting factor is inhibited by betrixaban? | 55200c606b348bb82c000013_039 | {
"answer_start": [
935
],
"text": [
"Xa"
]
} |
Inhibition of CaM kinase II activation and force maintenance by KN-93 in arterial smooth muscle. Ca(+)/calmodulin-dependent protein kinase II (CaM kinase II) has been implicated in the regulation of smooth muscle contractility. The goals of this study were to determine: 1) to what extent CaM kinase II is activated by c... | Which kinase is inhibited by the small molecule KN-93? | 54f89e1a06d9727f76000001_004 | {
"answer_start": [
739
],
"text": [
"CaM kinase II"
]
} |
GFRAL is the receptor for GDF15 and the ligand promotes weight loss in mice and nonhuman primates. Growth differentiation factor 15 (GDF15), a distant member of the transforming growth factor (TGF)-β family, is a secreted protein that circulates as a 25-kDa dimer. In humans, elevated GDF15 correlates with weight loss, ... | How does increased GDF15 affect body weight? | 5a7d5ce0faa1ab7d2e00001b_001 | {
"answer_start": [
373
],
"text": [
"reduces body weight"
]
} |
[Dermatoglyphics of homo- and heterozygotes for Wilson's disease (hepatolenticular degeneration) (author's transl)]. Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the tur... | What is the mode of inheritance of Wilson's disease? | 52bf1b0a03868f1b06000009_013 | {
"answer_start": [
370
],
"text": [
"autosomal recessive"
]
} |
Clinics in diagnostic imaging (175). Corpus callosum glioblastoma multiforme (GBM): butterfly glioma. 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 imagin... | What is the most common histological diagnosis of "butterfly glioma"? | 5a7234352dc08e987e000007_007 | {
"answer_start": [
53
],
"text": [
"glioblastoma multiforme"
]
} |
CAGEr: precise TSS data retrieval and high-resolution promoterome mining for integrative analyses. Cap analysis of gene expression (CAGE) is a high-throughput method for transcriptome analysis that provides a single base-pair resolution map of transcription start sites (TSS) and their relative usage. Despite their high... | Which tool is used for promoterome mining using CAGE data? | 56afe6d40a360a5e45000017_004 | {
"answer_start": [
1206
],
"text": [
"CAGEr"
]
} |
Phospholamban phosphorylation by CaMKII under pathophysiological conditions. Sarcoplasmic reticulum (SR) Ca2+ ATPase (SERCA2a) transports Ca2+ into the SR, decreasing the cytosolic Ca2+ during relaxation and increasing the SR Ca2+ available for contraction. SERCA2a activity is regulated by phosphorylation of another SR... | Which is the main regulatory molecule of SERCA2A function in the cardiac muscle? | 54cb9c94f693c3b16b000005_020 | {
"answer_start": [
409
],
"text": [
"PLN"
]
} |
The melanocortin 1 receptor (MC1R): more than just red hair. The melanocortin 1 receptor, a seven pass transmembrane G protein coupled receptor, is a key control point in melanogenesis. Loss-of-function mutations at the MC1R are associated with a switch from eumelanin to phaeomelanin production, resulting in a red or y... | Which gene is responsible for red hair? | 5ace19420340b9f05800000a_016 | {
"answer_start": [
220
],
"text": [
"MC1R"
]
} |
Rapamycin inhibits the growth of glioblastoma. The molecular target of rapamycin (mTOR) is up-regulated in glioblastoma (GBM) and this is associated with the rate of cell growth, stem cell proliferation and disease relapse. Rapamycin is a powerful mTOR inhibitor and strong autophagy inducer. Previous studies analyzed t... | Which is the molecular target of the immunosuppressant drug Rapamycin? | 53124bdae3eabad02100000b_003 | {
"answer_start": [
82
],
"text": [
"mTOR"
]
} |
Calcium and vitamin D in sarcoidosis: is supplementation safe? Granulomas in sarcoidosis express high levels of 1α-hydroxylase, an enzyme that catalyzes the hydroxylation of 25-OH vitamin D to its active form, 1,25(OH)2 vitamin D. Overproduction of 1α-hydroxylase is held responsible for the development of hypercalcemia... | What is the first line treatment for sarcoidosis? | 5a7877c0faa1ab7d2e00000c_008 | {
"answer_start": [
346
],
"text": [
"Corticosteroids"
]
} |
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. Oculocutaneous albinism (OCA) type 4 is a newly identified human autosomal recessive hypopigmentary disorder that disrupts pigmentation i... | Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism? | 58cbb98c02b8c60953000034_011 | {
"answer_start": [
554
],
"text": [
"tyrosinase"
]
} |
Right cerebral hemiatrophy: neurocognitive and electroclinical features. The purpose of this study was to retrospectively evaluate the cognitive and electroclinical characteristics of right cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome [DDMS]). Cognitive assessments with a particular emphasis on visuospatial func... | What is the characteristic feature of the Dyke-Davidoff-Masson syndrome. | 55032e65e9bde69634000034_020 | {
"answer_start": [
190
],
"text": [
"cerebral hemiatrophy"
]
} |
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other small non-co... | Which method is available for whole genome identification of pathogenic regulatory variants in mendelian disease? | 5a67c497b750ff4455000012_004 | {
"answer_start": [
351
],
"text": [
"Genomiser"
]
} |
SEF, a new protein required for flowering repression in Arabidopsis, interacts with PIE1 and ARP6. The SWR1/SRCAP complex is a chromatin-remodeling complex that has been shown to be involved in substitution of histone H2A by the histone variant H2A.Z in yeast (Saccharomyces cerevisiae) and animals. Here, we identify an... | Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae? | 58a6db8660087bc10a00002c_021 | {
"answer_start": [
103
],
"text": [
"SWR1"
]
} |
Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend. Depressed sarcoplasmic reticulum (SR) calcium cycling, reflecting impaired SR Ca-transport and Ca-release, is a key and universal characteristic of human and experimental heart failure. These SR processes are regulated by mu... | Which is the main regulatory molecule of SERCA2A function in the cardiac muscle? | 54cb9c94f693c3b16b000005_003 | {
"answer_start": [
633
],
"text": [
"PLN"
]
} |
(18)F-FDG-PET/CT imaging in an IL-6- and MYC-driven mouse model of human multiple myeloma affords objective evaluation of plasma cell tumor progression and therapeutic response to the proteasome inhibitor ixazomib. (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) and computed tomography (CT) are useful i... | Which type of myeloma is ixazomib being evaluated for? | 56ed0ffe2ac5ed1459000008_006 | {
"answer_start": [
73
],
"text": [
"multiple myeloma"
]
} |
Randomized, controlled trial of telcagepant over four migraine attacks. METHODS: This study evaluated the calcitonin gene-related peptide (CGRP) receptor antagonist telcagepant (tablet formulation) for treatment of a migraine attack and across four attacks. Adults with migraine were randomized, double-blind, to telcage... | Which receptor is targeted by telcagepant? | 55032efde9bde69634000035_015 | {
"answer_start": [
106
],
"text": [
"calcitonin gene-related peptide"
]
} |
TNF-α: a treatment target or cause of sarcoidosis? Sarcoidosis is a systemic granulomatous disease that affects numerous organs, commonly manifesting at the lungs and skin. While corticosteroids remain the first line of treatment, tumour necrosis factor alpha (TNF-α) inhibitors have been investigated as one potential s... | What is the first line treatment for sarcoidosis? | 5a7877c0faa1ab7d2e00000c_004 | {
"answer_start": [
179
],
"text": [
"corticosteroids"
]
} |
OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica. 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... | Mention the only available genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica | 56ae6e650a360a5e4500000e_007 | {
"answer_start": [
0
],
"text": [
"OikoBase"
]
} |
[SERM]. SERM is the abbreviation of the selective estrogen receptor modulator which is the synthetic ligands of estrogen receptor (ER) acting estrogenically or anti-estrogenically among various tissues through modifying the ER function. Clomifene, tamoxifen, toremifene and raloxifene are generally classified as SERM in... | What is a SERM? | 5a74e9ad0384be955100000a_008 | {
"answer_start": [
40
],
"text": [
"selective estrogen receptor modulator"
]
} |
Mechanisms of activation of NADPH oxidases. The members of the NOX family of enzymes are expressed in a variety of tissues and serve a number of functions. There is a high level of conservation of primary protein sequence, as well as functional features, although specialized responses are beginning to emerge. In this c... | Which NADPH oxidase family member requires interaction with NOXO1 for function? | 58a5a51060087bc10a000021_011 | {
"answer_start": [
657
],
"text": [
"NOX1"
]
} |
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions in the... | In which syndrome is the RPS19 gene most frequently mutated? | 5a896c26fcd1d6a10c000007_030 | {
"answer_start": [
102
],
"text": [
"DBA"
]
} |
FKBP12.6-mediated stabilization of calcium-release channel (ryanodine receptor) as a novel therapeutic strategy against heart failure. BACKGROUND: The development of heart failure is tightly correlated with a decrease in the stoichiometric ratio for FKBP12.6 binding to the ryanodine receptor (RyR) in the sarcoplasmic r... | The drug JTV519 is derivative of which group of chemical compounds? | 54f9b74306d9727f76000004_043 | {
"answer_start": [
370
],
"text": [
"benzothiazepine"
]
} |
Should the annular tendon of the eye be named 'annulus of Zinn' or 'of Valsalva'? The annular tendon is commonly named 'annulus of Zinn', from the German anatomist and botanist Johann Gottfried Zinn (1727-1759) who described this structure in his Descriptio anatomica oculi humani (Anatomical Description of the Human Ey... | Where can you find the annulus of Zinn? | 58917c88621ea6ff7e00000a_013 | {
"answer_start": [
33
],
"text": [
"eye"
]
} |
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease. Pseudogenes, resulting from duplications of functional genes, contribute to the functional complexity of their parental genes. The glucocerebrosidase gene (GBA), located in a gene-rich region on chromosome 1q 21, is... | What is the gene mutated in the Gaucher disease? | 532f55fed6d3ac6a34000036_001 | {
"answer_start": [
236
],
"text": [
"glucocerebrosidase"
]
} |
Histone methyltransferase MLL1 regulates MDR1 transcription and chemoresistance. The multidrug resistance 1 gene (MDR1) encodes P-glycoprotein (Pgp), a member of the ATP-binding cassette (ABC) transporter family that confers tumor drug resistance by actively effluxing a number of antitumor agents. We had previously sho... | Which is the histone residue methylated by MLL1? | 533be71dfd9a95ea0d000009_007 | {
"answer_start": [
904
],
"text": [
"H3K4"
]
} |
A New Less Invasive Technique for Multiple-Level Spontaneous Spinal Epidural Hematomas: Wash-and-Go Technique. Aim 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). Laminectomy or hemila... | What drug treatment can cause a spinal epidural hematoma? | 5ab90a79fcf456587200001b_001 | {
"answer_start": [
219
],
"text": [
"anticoagulant therapy"
]
} |
An important role for cholecystokinin, a CLOCK target gene, in the development and treatment of manic-like behaviors. Mice with a mutation in the Clock gene (ClockΔ19) have been identified as a model of mania; however, the mechanisms that underlie this phenotype, and the changes in the brain that are necessary for lith... | Which is the histone residue methylated by MLL1? | 533be71dfd9a95ea0d000009_001 | {
"answer_start": [
982
],
"text": [
"H3K4"
]
} |
Multiple Myeloma Gets Three New Drugs. In the last few weeks, the FDA approved three new therapies for multiple myeloma: ixazomib, the first oral proteasome inhibitor; and daratumumab and elotuzumab, two monoclonal antibodies that target CD38 and SLAMF7, respectively. | What is the target of daratumumab? | 5880aef4c872c95565000001_002 | {
"answer_start": [
238
],
"text": [
"CD38"
]
} |
PU.1 positively regulates GATA-1 expression in mast cells. Coexpression of PU.1 and GATA-1 is required for proper specification of the mast cell lineage; however, in the myeloid and erythroid lineages, PU.1 and GATA-1 are functionally antagonistic. In this study, we report a transcriptional network in which PU.1 positi... | Which gene controls the expression of GATA-1 isoforms? | 58e75d483e8b6dc87c000005_002 | {
"answer_start": [
1112
],
"text": [
"PU.1"
]
} |
traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals. UNLABELLED: Genome-wide association studies (GWASs) have successfully identified many sequence variants that are significantly associated with common diseases and traits. Tens of thousands of such trait-associated SNPs ha... | Which R / bioconductor package is used for performing SNP enrichment analysis? | 587e3129c32c812009000002_002 | {
"answer_start": [
784
],
"text": [
"traseR"
]
} |
The glial sodium-calcium exchanger: a new target for nitric oxide-mediated cellular toxicity. The plasma membrane Na(+)/Ca(2+) exchanger (NCX) is a bidirectional ion transporter that couples the translocation of Na(+) in one direction with that of Ca(2+) in the opposite direction. This system contributes to the regulat... | The small molecule SEA0400 is an inhibitor of which ion antiporter/exchanger? | 5506c3e38e1671127b00000a_004 | {
"answer_start": [
1079
],
"text": [
"NCX"
]
} |
Disruption of long-distance highly conserved noncoding elements in neurocristopathies. One of the key discoveries of vertebrate genome sequencing projects has been the identification of highly conserved noncoding elements (CNEs). Some characteristics of CNEs include their high frequency in mammalian genomes, their pote... | Which is the process that Conserved noncoding elements mostly regulate? | 51387022bee46bd34c000002_003 | {
"answer_start": [
413
],
"text": [
"development"
]
} |
diffloop: a computational framework for identifying and analyzing differential DNA loops from sequencing data. Summary: The 3D architecture of DNA within the nucleus is a key determinant of interactions between genes, regulatory elements, and transcriptional machinery. As a result, differences in DNA looping structure ... | Which package in Bioconductor has been developed with the aim to analyze differential DNA loops from sequencing data? | 5a6e2578b750ff445500003d_002 | {
"answer_start": [
476
],
"text": [
"diffloop"
]
} |
subSeq: determining appropriate sequencing depth through efficient read subsampling. MOTIVATION: Next-generation sequencing experiments, such as RNA-Seq, play an increasingly important role in biological research. One complication is that the power and accuracy of such experiments depend substantially on the number of ... | Which method for subsampling of NGS reads requires only gene counts? | 5a39453d966455904c000006_001 | {
"answer_start": [
837
],
"text": [
"subSeq"
]
} |
Dinutuximab: A Review in High-Risk Neuroblastoma. Dinutuximab (ch14.18; Unituxin™) is a chimeric human-mouse monoclonal antibody that binds to the glycolipid antigen disialoganglioside, which is highly expressed on the surface of neuroblastoma cells. This intravenous drug is approved in the EU and USA as combination th... | Dinutuximab is used for treatment of which disease? | 589a247078275d0c4a000035_002 | {
"answer_start": [
35
],
"text": [
"Neuroblastoma"
]
} |
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. OBJECTIVE: To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in ... | Which disease is treated with Nusinersen? | 589185cc621ea6ff7e00000b_022 | {
"answer_start": [
1623
],
"text": [
"SMA"
]
} |
Gene expression during normal and FSHD myogenesis. BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene, DUX4, that can encode a protein containing two homeodomains. A DUX4 transcript ... | Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4? | 550f0e4c6a8cde6b72000003_015 | {
"answer_start": [
2100
],
"text": [
"FSHD"
]
} |
S-adenosylmethionine inhibits lipopolysaccharide-induced gene expression via modulation of histone methylation. UNLABELLED: We previously showed that S-adenosylmethionine (SAMe) and its metabolite methylthioadenosine (MTA) blocked lipopolysaccharide (LPS)-induced tumor necrosis factor alpha (TNFalpha) expression in RAW... | Which is the methyl donor of histone methyltransferases? | 516e7fda298dcd4e51000081_001 | {
"answer_start": [
554
],
"text": [
"SAM"
]
} |
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first molecular dysregulations occur is still unknown. ... | Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4? | 550f0e4c6a8cde6b72000003_001 | {
"answer_start": [
694
],
"text": [
"FSHD"
]
} |
Antibodies to watch in 2014. Since 2010, mAbs has documented the biopharmaceutical industry's progress in transitioning antibody therapeutics to first Phase 3 clinical studies and regulatory review, and its success at gaining first marketing approvals for antibody-based products. This installment of the "Antibodies to ... | Which enzyme is targeted by Evolocumab? | 54e0d1491388e8454a000014_004 | {
"answer_start": [
967
],
"text": [
"proprotein convertase subtilisin/kexin type 9"
]
} |
Effect of moderate liver impairment on the pharmacokinetics of opicapone. PURPOSE: Opicapone (OPC) is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease. The purpose of this study was to evaluate the effect of moderate liver impai... | What enzyme is inhibied by Opicapone? | 56c1d857ef6e394741000033_001 | {
"answer_start": [
110
],
"text": [
"catechol-O-methyltransferase"
]
} |
hCINAP is an atypical mammalian nuclear adenylate kinase with an ATPase motif: structural and functional studies. 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 ribonucleoprot... | Which protein is the main marker of Cajal bodies? | 58eb9542eda5a57672000007_026 | {
"answer_start": [
195
],
"text": [
"coilin"
]
} |
[Alpha-synucleinopathies]. The term alpha-synucleinopathy is used to name a group of disorders having in common the abnormal deposition of alpha-synuclein in the cytoplasm of neurons or glial cells, as well as in extracellular deposits of amyloid. In Parkinson's disease and Lewy body dementia, alpha-synuclein is the ma... | What is the main component of the Lewy bodies? | 550c3d45a103b78016000008_018 | {
"answer_start": [
373
],
"text": [
"alpha-synuclein"
]
} |
Aerial dispersal of meticillin-resistant Staphylococcus aureus in hospital rooms by infected or colonised patients. The aim of this study was to assess to what extent patients with meticillin-resistant Staphylococcus aureus (MRSA) at respiratory sites shed viable MRSA into the air of hospital rooms. We also evaluated w... | What is MRSA? | 58a32efe60087bc10a000013_007 | {
"answer_start": [
264
],
"text": [
"MRSA"
]
} |
Essential roles of Da transactivation domains in neurogenesis and in E(spl)-mediated repression. E proteins are a special class of basic helix-loop-helix (bHLH) proteins that heterodimerize with many bHLH activators to regulate developmental decisions, such as myogenesis and neurogenesis. Daughterless (Da) is the sole ... | What is the role of TAD protein domain? | 58dcb47c8acda34529000020_005 | {
"answer_start": [
401
],
"text": [
"transcription activation domain"
]
} |
Morpholino treatment improves muscle function and pathology of Pitx1 transgenic mice. Paired-like homeodomain transcription factor 1 (PITX1) was proposed to be part of the disease mechanisms of facioscapulohumeral muscular dystrophy (FSHD). We generated a tet-repressible muscle-specific Pitx1 transgenic mouse model whi... | Which disease is associated with the ectopic expression of the protein encoded by the gene DUX4? | 550f0e4c6a8cde6b72000003_021 | {
"answer_start": [
234
],
"text": [
"FSHD"
]
} |
Evaluation of the Arabic version of STOP-Bang questionnaire as a screening tool for obstructive sleep apnea. PURPOSE: Obstructive sleep apnea (OSA) is a sleep-related breathing disorder that is underdiagnosed. OSA is usually diagnosed by polysomnography (PSG) and, if untreated, could lead to life-threatening complicati... | Which disease risk can be estimated with the Stop-Bang questionnaire? | 5a742d620384be9551000002_010 | {
"answer_start": [
84
],
"text": [
"obstructive sleep apnea"
]
} |
High frequency oscillations mirror disease activity in patients with focal cortical dysplasia. PURPOSE: The study analyzes the occurrence of high frequency oscillations in different types of focal cortical dysplasia in 22 patients with refractory epilepsy. High frequency oscillations are biomarkers for epileptic tissue... | Which disorder is rated by Palmini classification? | 56c1f020ef6e394741000047_024 | {
"answer_start": [
765
],
"text": [
"focal cortical dysplasia"
]
} |
In silico predicted robustness of viroids RNA secondary structures. I. The effect of single mutations. Viroids are plant subviral pathogens whose genomes are constituted by a single-stranded and covalently closed small RNA molecule that does not encode for any protein. Despite this genomic simplicity, they are able of ... | Which are the smallest known subviral pathogens of plants? | 56e0447a51531f7e3300000b_003 | {
"answer_start": [
103
],
"text": [
"Viroids"
]
} |
New targets, new drugs for metastatic bone pain: a new philosophy. Bone pain is a common symptom in bone metastases. The therapies that are currently available include nonsteroidal anti-inflammatory drugs (NSAIDs), opioids, steroids and gabapentin which have been demonstrated to improve neuropathic pain. In addition, p... | To the ligand of which receptors does Denosumab (Prolia) bind? | 52bf1d9e03868f1b06000010_010 | {
"answer_start": [
1132
],
"text": [
"RANKL"
]
} |
Hypermethylation of the CpG dinucleotide in epidermal growth factor receptor codon 790: implications for a mutational hotspot leading to the T790M mutation in non-small-cell lung cancer. Nearly one half of all cases of acquired resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) for ... | Which gene harbors the mutation T790M? | 56d1f790f22319765a000001_003 | {
"answer_start": [
242
],
"text": [
"epidermal growth factor receptor"
]
} |
Apixaban: first global approval. Apixaban (Eliquis™), an oral direct factor Xa inhibitor, is being developed by Bristol-Myers Squibb and Pfizer as a therapy for the prevention and/or treatment of thrombotic disorders. Apixaban has been approved in the EU for the prevention of venous thromboembolism (VTE) after hip or k... | What is the drug target for Eliquis (Apixaban)? | 5abbe429fcf456587200001c_004 | {
"answer_start": [
69
],
"text": [
"factor Xa"
]
} |
[New therapeutical options for heavy gastrointestinal bleeding]. The number of patients taking new oral anticoagulants is rising, so is the number of serious bleeding events. In severe bleeding, the decision to start a procoagulant therapy is difficult to take. With Idarucizumab and Andexanet Alfa, specific antidotes h... | Andexanet Alfa is an antidote of which clotting factor inhibitors? | 5880b073c872c95565000003_048 | {
"answer_start": [
398
],
"text": [
"Factor Xa"
]
} |
Effects of BCR-ABL inhibitors on anti-tumor immunity. In chronic myeloid leukemia (CML), BCR-ABL-mediated oncogenic signaling can be successfully targeted with the BCRABL- inhibitors imatinib, nilotinib, and dasatinib leading to complete cytogenetic (Philadelphia chromosome not detectable upon cytogenetic testing of bo... | What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)? | 5324a8ac9b2d7acc7e000018_021 | {
"answer_start": [
89
],
"text": [
"BCR-ABL"
]
} |
Development of an early biomarker for the ovarian liability of selective estrogen receptor modulators in rats. Selective estrogen receptor modulators (SERMs) have the potential to treat estrogen sensitive diseases such as uterine leiomyoma and endometriosis, which are prevalent in reproductive age women. However, SERMs... | What is a SERM? | 5a74e9ad0384be955100000a_010 | {
"answer_start": [
111
],
"text": [
"Selective estrogen receptor modulator"
]
} |
A new procedure for extraction of collagen from modern and archaeological bones for 14C dating. Bones are potentially the best age indicators in a stratigraphic study, because they are closely related to the layer in which they are found. Collagen is the most suitable fraction and is the material normally used in radio... | Which bone protein is used in archaelogy for dating and species identification? | 55054f8af73303d458000002_010 | {
"answer_start": [
239
],
"text": [
"Collagen"
]
} |
APOBEC3B and AID have similar nuclear import mechanisms. Members of the APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like) protein family catalyze DNA cytosine deamination and underpin a variety of immune defenses. For instance, several family members, including APOBEC3B (A3B), elicit strong retr... | Is APOBEC3B protein predominantly cytoplasmic or nuclear? | 54e0ace81388e8454a000010_002 | {
"answer_start": [
499
],
"text": [
" nuclear"
]
} |
[Familial isolated pituitary adenoma syndrome]. Familial pituitary adenomas occur in multiple endocrine neoplasia type 1, Carney complex, as well as in familial isolated pituitary adenoma syndrome. Familial isolated pituitary adenoma syndrome is an autosomal dominant disease with incomplete penetrance. Pituitary adenom... | Mutation of which gene is implicated in the familial isolated pituitary adenoma? | 551c23bc6b348bb82c00000b_005 | {
"answer_start": [
468
],
"text": [
"aryl hydrocarbon receptor interacting protein"
]
} |
RNA editing in P transposable element read-through transcripts in Drosophila melanogaster. RNA editing is proposed as a modulator of transcriptomes, but its biological impact has not been fully elucidated. In particular, its importance for transposable elements is controversial. We found RNA editing on antisense read-t... | Which is the major RNA editing enzyme in Drosophila melanogaster? | 58e9e7aa3e8b6dc87c00000d_002 | {
"answer_start": [
812
],
"text": [
"ADAR"
]
} |
The Recognition of Stroke in the Emergency Room (ROSIER) scale: development and validation of a stroke recognition instrument. BACKGROUND: In patients with acute stroke, rapid intervention is crucial to maximise early treatment benefits. Stroke patients commonly have their first contact with medical staff in the emerge... | ROSIER scale is used for which disorder? | 551fd9c06b348bb82c000012_028 | {
"answer_start": [
2234
],
"text": [
"stroke"
]
} |
The therapeutic potential of a kallikrein inhibitor for treating hereditary angioedema. Hereditary angioedema (HAE) manifests as intermittent, painful attacks of submucosal oedema affecting the larynx, gastrointestinal tract or limbs. Currently, acute treatment is available in Europe but not USA, and requires intraveno... | DX-88 is investigational name of which drug? | 54f1e031c409818c32000001_009 | {
"answer_start": [
482
],
"text": [
"ecallantide"
]
} |
Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele. Neurofibromatosis type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF1 tumor-suppressor gene. Different pathogenetic mechanisms have been identified, with the majority (95%) caus... | Which is the gene mutated in type 1 neurofibromatosis? | 5343fc1aaeec6fbd07000003_008 | {
"answer_start": [
209
],
"text": [
"NF1"
]
} |
LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations. 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 regi... | Which tool is used for the identification of recurrent variants in noncoding regions? | 589635dd78275d0c4a000009_005 | {
"answer_start": [
1293
],
"text": [
"LARVA"
]
} |
Stabilities of folding of clustered, two-repeat fragments of spectrin reveal a potential hinge in the human erythroid spectrin tetramer. The large size of spectrin, the flexible protein promoting reversible deformation of red cells, has been an obstacle to elucidating the molecular mechanism of its function. By studyin... | Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers? | 5540b9800083d1bf0e000002_003 | {
"answer_start": [
1002
],
"text": [
"antiparallel"
]
} |
Effects of the serotonin transporter gene promoter polymorphism on mirtazapine and paroxetine efficacy and adverse events in geriatric major depression. BACKGROUND: The "long/short"polymorphism (5HTTLPR) in the promoter of the serotonin transporter gene (SLC6A4) has been proposed as a pharmacogenetic marker for antidep... | What disease is mirtazapine predominantly used for? | 5156be17d24251bc05000086_001 | {
"answer_start": [
916
],
"text": [
"major depression"
]
} |
Idarucizumab Improves Outcome in Murine Brain Hemorrhage Related to Dabigatran. Lack of specific antidotes is a major concern in intracerebral hemorrhage (ICH) related to direct anticoagulants including dabigatran (OAC-ICH). We examined the efficacy of idarucizumab, an antibody fragment binding to dabigatran, in a mous... | Idarucizumab is an antidote of which drug? | 56c079b1ef6e394741000022_003 | {
"answer_start": [
340
],
"text": [
"Dabigatran"
]
} |
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovasc... | Which gene mutations cause the Marfan syndrome? | 58d8e6818acda3452900000a_035 | {
"answer_start": [
170
],
"text": [
"FBN1"
]
} |
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. The objective of the study was to investigate a girl with giant axonal neuropathy and detect the mutation of GAN gene in her family. The encoding exons of GAN gene were amplified from genomic DNA of the proband and her parents by polymerase ... | Which gene is involved in Giant Axonal Neuropathy? | 572096c90fd6f91b6800000e_007 | {
"answer_start": [
882
],
"text": [
"GAN gene"
]
} |
Perisigmoid Abscess Leading to a Diagnosis of Ehlers-Danlos Syndrome Type IV. The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. Ehlers-Danlos syndrome type IV places patients at risk for life-threatening,... | What tissue is most affected in Ehlers-Danlos syndromes? | 58cdb41302b8c60953000042_001 | {
"answer_start": [
127
],
"text": [
"connective tissue"
]
} |
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. BACKGROUND: Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a pred... | Which gene is responsible for the development of Sotos syndrome? | 571f33bd0fd6f91b68000003_010 | {
"answer_start": [
241
],
"text": [
"NSD1 gene"
]
} |
Chromosomal mobilization and reintegration of Sleeping Beauty and PiggyBac transposons. The Sleeping Beauty and PiggyBac DNA transposon systems have recently been developed as tools for insertional mutagenesis. We have compared the chromosomal mobilization efficiency and insertion site preference of the two transposons... | Do the Sleeping Beauty or the piggyBac transposons have higher transposition efficiency? | 56c4d14ab04e159d0e000003_005 | {
"answer_start": [
521
],
"text": [
"PiggyBac"
]
} |
Dextromethorphan poisoning: an evidence-based consensus guideline for out-of-hospital management. The objective of this guideline is to assist poison center personnel in the appropriate out-of-hospital triage and initial out-of-hospital management of patients with a suspected ingestion of dextromethorphan by 1) describ... | Which medication should be administered when managing patients with suspected acute opioid overdose? | 5149f494d24251bc0500004c_003 | {
"answer_start": [
3016
],
"text": [
"naloxone"
]
} |
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