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24
factoid
What does tsDMARD stand for?
['targeted synthetic disease-modifying antirheumatic drugs']
['tsDMARDs are targeted synthetic disease-modifying antirheumatic drugs.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32550671", "http://www.ncbi.nlm.nih.gov/pubmed/32896492", "http://www.ncbi.nlm.nih.gov/pubmed/32179964", "http://www.ncbi.nlm.nih.gov/pubmed/31787605", "http://www.ncbi.nlm.nih.gov/pubmed/31426398", "http://www.ncbi.nlm.nih.gov/pubmed/30941350", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31504972", "endSection": "abstract", "offsetInBeginSection": 185, "offsetInEndSection": 319, "text": "Whether this potential risk is specific to abatacept or extends to all biologics and targeted synthetic DMARDs (...
11
BioASQ-training11b
null
null
602598101cb411341a0000ae
factoid
What is the primary indication of tocilizumab?
['Rheumatoid arthritis']
['Tocilizumab is considered first-line treatment for rheumatoid arthritis.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31859424" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31859424", "endSection": "abstract", "offsetInBeginSection": 1179, "offsetInEndSection": 1339, "text": "For the first-line bDMARD/tsDMARD, either tumor necrosis factor inhibitors (TNFi), non-TNFi (abatacept, tocili...
11
BioASQ-training11b
null
null
60258edd1cb411341a0000a9
factoid
Which transcription factor controls Drosophila's Hes genes?
['Notch']
['The Notch/Hes axis represses a cohort of transcription factor genes . In Drosophila, activation of the Notch receptor induces transcriptional repressors encoded by the hairy/Enhancer of split (HES) genes, which shut off achaete-scute transcription . The molecular details of how Hes and Hey proteins control transcription are still poorly understood .', 'Hes genes encode factors that mediate many of the activities of the Notch pathway. Hes genes are functionally classified into two groups: those that are regulated by Notch and those that are not.', 'Mammalian Hes genes encode transcriptional factors that mediate many of the activities of the Notch pathway. HES transcriptional repressors are important components of the Notch pathway that regulates neurogenesis from Drosophila to vertebrates.', 'In Drosophila, activation of the Notch receptor induces transcriptional repressors encoded by the hairy/Enhancer of split (HES) genes, which interact with the Groucho protein to shut off achaete-scute transcription.', 'Transcriptional dynamics elicited by a short pulse of notch activation involves feed-forward regulation by E(spl)/Hes genes. Mammalian Hes genes encode transcriptional factors that mediate many of the activities of the Notch pathway.', 'HES transcriptional repressors are important components of the Notch pathway that regulates neurogenesis from Drosophila to vertebrates. Hes genes are responsible for co-ordinating the Notch response of a wide spectrum of other targets, explaining the critical functions these key regulators play in many developmental and disease contexts. Hes1, Hes5, and Hes7 are known as downstream effectors of canonical Notch signaling, which regulates cell differentiation via cell-cell interaction', 'The Notch/Hes axis represses a cohort of transcription factor genes . The molecular details of how Hes and Hey proteins control transcription are still poorly understood . In Drosophila, activation of the Notch receptor induces transcriptional repressors encoded by the hairy/Enhancer of split (HES) genes, which act as negative regulators in this process .', 'Transcriptional dynamics elicited by a short pulse of notch activation involves feed-forward regulation by E(spl)/Hes genes. Hes1, Hes5, and Hes7 are known as downstream effectors of canonical Notch signaling, which regulates cell differentiation via cell-cell interaction', 'Transcriptional dynamics elicited by a short pulse of notch activation involves feed-forward regulation by E(spl)/Hes genes. Based on these data, we propose a model in which Hes genes are responsible for co-ordinating the Notch response of a wide spectrum of other targets, explaining the critical functions these key regulators play in many developmental and disease contexts.', 'Mammalian Hes genes encode transcriptional factors that mediate many of the activities of the Notch pathway . Hes1, Hes5, and Hes7 are known as downstream effectors of canonical Notch signaling . The Notch-Hes1 pathway regulates ovarian somatic cell development, which is necessary for oocyte survival and maturation .']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28144959", "http://www.ncbi.nlm.nih.gov/pubmed/9152013", "http://www.ncbi.nlm.nih.gov/pubmed/17028039", "http://www.ncbi.nlm.nih.gov/pubmed/17586813", "http://www.ncbi.nlm.nih.gov/pubmed/19050759", "http://www.ncbi.nlm.nih.gov/pubmed/25248479", "http://www.ncbi.nlm.ni...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/23300480", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 124, "text": "Transcriptional dynamics elicited by a short pulse of notch activation involves feed-forward regulation by E(spl)/Hes ge...
11
BioASQ-training11b
null
null
5e4bf9436d0a27794100002d
factoid
What kind of mutations cause GRK1 associated Oguchi disease?
['Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1)']
['Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Hutchinson-Gilford disease as well as congenital stationary night blindness in around 90% of patients.', 'Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB).', 'Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare autosomal recessive disorder characterized by congenital stationary night blindness (CSNB).', 'Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB)', 'Biallelic mutations in G-Protein coupled receptor kinase 1 cause Oguchi disease. Oguchi disease is a rare subtype of congenital stationary night blindness.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/33252155" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/33252155", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 150, "text": "Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenit...
11
BioASQ-training11b
null
null
601bcb5d1cb411341a000003
factoid
What disease is associated with Anticitrullinated peptide antibodies (ACPAs)?
['rheumatoid arthritis']
['nticitrullinated protein antibodies (ACPAs) are serological biomarkers associated with early, rapidly progressing rheumatoid arthritis (RA)', 'Anticitrullinated peptide antibodies (ACPAs) are associated with rheumatoid arthritis.', 'Anticitrullinated peptide antibodies (ACPAs) have been shown to be associated with rheumatoid arthritis', 'The aim of this study was to evaluate the presence of autoantibodies to cyclic citrullinated synthetic peptides (ACPAs) in the sputum of patients with long-standing rheumatoid arthritis.', 'Anticitrullinated protein antibodies are found in patients with rheumatoid arthritis']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32079664", "http://www.ncbi.nlm.nih.gov/pubmed/16188943", "http://www.ncbi.nlm.nih.gov/pubmed/22661643", "http://www.ncbi.nlm.nih.gov/pubmed/27696777", "http://www.ncbi.nlm.nih.gov/pubmed/31565241", "http://www.ncbi.nlm.nih.gov/pubmed/29290168", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/29200020", "endSection": "title", "offsetInBeginSection": 6, "offsetInEndSection": 95, "text": " Anticitrullinated Protein Antibodies in Patients With Long-standing Rheumatoid Arthritis" }, { "beginSection": "...
11
BioASQ-training11b
null
null
5e6e9a2fc6a8763d23000007
factoid
What was the predominant rotavirus genotype in the pre-vaccine era, in Australia?
['G1P[8]']
['G1P[8] was the dominant genotype in Australia in the prevaccine era (1995-2006).']
[ "http://www.ncbi.nlm.nih.gov/pubmed/29790933", "http://www.ncbi.nlm.nih.gov/pubmed/30755297", "http://www.ncbi.nlm.nih.gov/pubmed/32060546" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/29790933", "endSection": "abstract", "offsetInBeginSection": 789, "offsetInEndSection": 867, "text": "G1P[8] was the dominant genotype nationally in the prevaccine era (1995-2006)." }, { "beginSection": "ab...
11
BioASQ-training11b
null
null
5e7667b1835f4e4777000004
factoid
What does csDMARD stand for?
['conventional synthetic disease-modifying antirheumatic drug']
['csDMARDS are conventional synthetic disease-modifying antirheumatic drugs.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/30629813" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30629813", "endSection": "abstract", "offsetInBeginSection": 11, "offsetInEndSection": 370, "text": "To determine whether intensive combinations of conventional synthetic disease-modifying antirheumatic drugs (csDM...
11
BioASQ-training11b
null
null
602598301cb411341a0000b0
factoid
Roughly how many base pairs are in the human mitochondrial genome or mtDNA?
['16569 bps']
['The mitochondrial genome, mtDNA, is 16569 base pairs.', 'The number of base pairs in the human mitochondrial genome (mhl) is currently estimated at 16569.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/18623076", "http://www.ncbi.nlm.nih.gov/pubmed/29121011", "http://www.ncbi.nlm.nih.gov/pubmed/19591276", "http://www.ncbi.nlm.nih.gov/pubmed/27814641", "http://www.ncbi.nlm.nih.gov/pubmed/1528004", "http://www.ncbi.nlm.nih.gov/pubmed/8884568", "http://www.ncbi.nlm.nih...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/2517473", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 46, "text": "The 16569 base pairs of the mitochondrial DNA " }, { "beginSection": "abstract", "document": "http://www...
11
BioASQ-training11b
null
null
5e61425e1af46fc13000000d
factoid
What is caused by heterozygous lamin B1 and lamin B2 variants?
['Primary microcephaly']
['Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.', 'Heterozygous lamin B1 and Lamin B2 variants cause primary microcephaly and define a novel laminopathy.', 'Microcephaly is a rare autosomal recessive disorder caused by heterozygous lamin B1 and Lamin B2 variants.', 'Heterozygous lamin B1 and Lamin B2 variants cause primary microcephaly and define a novel laminopathy', 'Heterozygous lamin B1 and laminB2 variants cause primary microcephaly and define a novel laminopathy.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/33033404", "http://www.ncbi.nlm.nih.gov/pubmed/32910914" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/33033404", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 102, "text": "Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy." }, { "be...
11
BioASQ-training11b
null
null
601bfa531cb411341a000008
factoid
What does Retapamulin treat?
['bacterial infections']
['Retapamulin is a small molecule covalently binding and inhibiting the bacterium Staphylococcus aureus (MRSA).', 'Retapamulin is used to treat topical bacterial infections with both methicillin-susceptible and resistant S. aureus and streptococcus infections.', 'Retapamulin is an antiviral medication used in the treatment of methicillin-resistant Staphylococcus aureus.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/20066388", "http://www.ncbi.nlm.nih.gov/pubmed/19344241", "http://www.ncbi.nlm.nih.gov/pubmed/16957433", "http://www.ncbi.nlm.nih.gov/pubmed/28491950", "http://www.ncbi.nlm.nih.gov/pubmed/18416589", "http://www.ncbi.nlm.nih.gov/pubmed/18725451", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/28874907", "endSection": "abstract", "offsetInBeginSection": 426, "offsetInEndSection": 678, "text": " the current study, we investigated the relationship between pleuromutilins, including valnemulin, tiamulin, and...
11
BioASQ-training11b
null
null
5e5e508b1af46fc13000000c
factoid
Which histone mark distinguishes active from inactive enhancers?
['H3K27ac', 'Histone 3 Lysine 27 acetylation']
["Histone H3K27ac separates active from poised enhancers and predicts developmental state . In contrast, elements of the second class 'poised enhancers' are linked to genes inactive in hESCs . They are involved in orchestrating early steps in embryogenesis, such as gastrulation, mesoderm formation and neurulation .", "Enhancers cause a high level of transcription and activation of chromatin structure at target genes . Individual chromatin marks, such as H3K27ac, have been identified to distinguish active from inactive enhancers . In contrast, elements of the second class, which we term 'poised enhancers', are distinguished by the absence of H327ac and enrichment of histone H3 lysine 27 trimethylation .", 'Conversion of inactive enhancers to an active state is marked by accumulation of H3K4me1 and H3K27ac histone marks.', "Hyperacetylation of histones H3 and H4, a mark of active chromatin, is established broadly across target loci by enhancers that function over long distances . In contrast, elements of the second class 'poised enhancers' are distinguished by the absence of H3K27ac and enrichment of histone H3 lysine 27 trimethylation . They are linked to genes inactive in hESCs and instead are involved in orchestrating early steps in embryogenesis, such as gastrulation and mesoderm formation .", 'Monomethylation of histone H3 on Lys 27 (H3K27) is associated with active and inactive enhancers, respectively. An enhancer chromatin state signature associated withactive enhancers may be defined by high levels of H3 K27 acetylation, nucleosome displacement, hypersensitivity to sonication, and strong suppression of enhancer activity by DNase I.', 'We demonstrate that UTX, in a demethylase activity-independent manner, facilitates conversion of inactive enhancers in embryonic stem cells to an active (H3K4me1+/H3K27ac+) state by recruiting and coupling the enzymatic functions of MLL4 and p300. This work reveals a previously unrecognized cooperativity among enhancer-associated chromatin modulators, including a unique function for UTX, in establishing an "active enhancer landscape" and defines a detailed mechanism for the joint deposition of H3K4me1 and H3K27ac.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27851968", "http://www.ncbi.nlm.nih.gov/pubmed/24038352", "http://www.ncbi.nlm.nih.gov/pubmed/15448640", "http://www.ncbi.nlm.nih.gov/pubmed/22920947", "http://www.ncbi.nlm.nih.gov/pubmed/28732206", "http://www.ncbi.nlm.nih.gov/pubmed/24565409", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/28732206", "endSection": "abstract", "offsetInBeginSection": 226, "offsetInEndSection": 474, "text": "We demonstrate that UTX, in a demethylase activity-independent manner, facilitates conversion of inactive enhanc...
11
BioASQ-training11b
null
null
5fe30e06a43ad31278000037
factoid
What does DMARD stand for?
['disease-modifying antirheumatic drug']
['DMARD stands for disease-modifying antirheumatic drug.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/30629813" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30629813", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 187, "text": "Cost-Effectiveness of Combination Disease-Modifying Antirheumatic Drugs Versus Tumor Necrosis Factor Inhibitors in Activ...
11
BioASQ-training11b
null
null
602593101cb411341a0000ab
factoid
What is targeted by Pexidartinib?
['CSF1R']
['Pexidartinib is a selective tyrosine kinase inhibitor against CSF1R.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28536100", "http://www.ncbi.nlm.nih.gov/pubmed/31229240", "http://www.ncbi.nlm.nih.gov/pubmed/31258629", "http://www.ncbi.nlm.nih.gov/pubmed/32440095", "http://www.ncbi.nlm.nih.gov/pubmed/32297819", "http://www.ncbi.nlm.nih.gov/pubmed/31862477", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30002809", "endSection": "abstract", "offsetInBeginSection": 368, "offsetInEndSection": 805, "text": "Elucidation of the importance of the colony-stimulating factor (CSF1)/CSF1 receptor (CSF1R) pathway in the patho...
11
BioASQ-training11b
null
null
5e44cf61f5547e6e27000001
factoid
What is the microgenderome?
["The sexually dimorphic microbiome has been termed the 'microgenderome'."]
["The sexually dimorphic microbiome has been termed the 'microgenderome'."]
[ "http://www.ncbi.nlm.nih.gov/pubmed/26757840", "http://www.ncbi.nlm.nih.gov/pubmed/27808584", "http://www.ncbi.nlm.nih.gov/pubmed/24627581", "http://www.ncbi.nlm.nih.gov/pubmed/30298433" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/24627581", "endSection": "abstract", "offsetInBeginSection": 1119, "offsetInEndSection": 1244, "text": "A concept of \"microgenderome\" related to the potential role of sex hormone modulation of the gut microbiota ...
11
BioASQ-training11b
null
null
5e920fe42d3121100d00000f
factoid
Which syndrome is caused by dysfunction of the ciliary ARMC9/TOGARAM1 protein?
['Joubert syndrome']
['Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.', 'Dysfunction of the ciliary ARMC9/TOGARAM1 protein causes Joubert syndrome.', 'Joubert syndrome (JBTS) is a recessive neurodevelopmental disorder caused by dysfunction of the ciliary ARMC9/TOGARAM1 protein.', 'Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction.', 'Joubert syndrome is a rare autosomal recessive disorder caused by dysfunction of the ciliary ARMC9/TOGARAM1 protein.', 'Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation.', 'Joubert syndrome (JBTS) is a rare autosomal recessive disorder caused by dysfunction of the ciliary ARMC9/TOGARAM1 protein.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32453716", "http://www.ncbi.nlm.nih.gov/pubmed/29159890" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32453716", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 81, "text": "Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome." }, { "beginSection": "abstract...
11
BioASQ-training11b
null
null
601d2d001cb411341a00002c
factoid
Which main viral protein is targeted by the drug remdesivir?
['Viral Polymerase']
['Viral Susceptibility to the Antiviral Remdesivir (GS-5734) Is Mediated by the Viral Polymerase and the Proofreading Exoribonuclease.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/29511076", "http://www.ncbi.nlm.nih.gov/pubmed/30275474" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/29511076", "endSection": "abstract", "offsetInBeginSection": 1404, "offsetInEndSection": 1758, "text": "Combined, the results indicate that GS-5734 interferes with the nsp12 polymerase even in the setting of intact...
11
BioASQ-training11b
null
null
5e920be42d3121100d00000c
factoid
Which type of pluripotency is Otx2 associated with?
['formative pluripotency']
['transcription factor Otx2 acts as a negative switch in the regulation of transition from naive to primed pluripotency. Otx2 and Oct4 drive early activation during embryonic stem cell transition from naive pluripotency.', 'Otx2 is an intrinsic determinant of the embryonic stem cell state and is required to stabilize the EpiSC state by suppressing the mesendoderm-to-neural fate switch by suppressing BMP4 and FGf2.', 'The transcription factor Otx2 acts as a negative switch in the regulation of transition from naive to primed pluripotency in mouse pluripotent stem cells. Otx2 is an intrinsic determinant of the embryonic stem cell state and is required for transition to a stable epiblast stem cell condition.', 'Otx2 is an intrinsic determinant of the embryonic stem cell state and is required to stabilize the EpiSC state by suppressing the Mesendoderm to Neuron fate switch.', 'The transcription factor Otx2 acts as a negative switch in the regulation of transition from naive to primed pluripotency in mouse pluripotent stem cells.', 'Otx2 is an intrinsic determinant of the embryonic stem cell state and is required to stabilize the EpiSC state by suppressing the mesendoderm-to-neural fate switch by suppressing BMP4 and FGf2. The transcription factor OTX2 acts as a negative switch in the regulation of transition from naive to primed pluripotency.', 'Otx2 is required to maintain the ESC metastable state by antagonizing ground state pluripotency and promoting commitment to differentiation. Furthermore, Otx2 is required for ESC transition into EpiSCs and, subsequently, to stabilize the EpiSC state by suppressing, in pluripotent cells, the mesendoderm-to-neural fate switch in cooperation with BMP4 and Fgf2. Otx2 is a novel intrinsic determinant controlling the functional integrity of ESCs and EpiSCs. Otx2 and Oct4 drive early enhancer activation during embryonic stem cell transition from naive pluripotency.', 'Otx2 is an intrinsic determinant of the embryonic stem cell state and is required to stabilize the EpiSC state by suppressing the mesendoderm-to-neural fate switch.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/23154415", "http://www.ncbi.nlm.nih.gov/pubmed/27924227", "http://www.ncbi.nlm.nih.gov/pubmed/27019633", "http://www.ncbi.nlm.nih.gov/pubmed/23719282", "http://www.ncbi.nlm.nih.gov/pubmed/30349051", "http://www.ncbi.nlm.nih.gov/pubmed/27732856", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/21062744", "endSection": "abstract", "offsetInBeginSection": 942, "offsetInEndSection": 1154, "text": "Specifically, the induction of the gastrulation markers T brachyury, Goosecoid, and Dkk1 and the neuroectoderma...
11
BioASQ-training11b
null
null
5fd0d880a43ad31278000002
factoid
How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
['5', 'five']
["The expression of genes both from the endogenous locus and from transgenes is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR) Targeted deletion of 5'HS1 and 5’HS4 of the beta-globin locus Control region reveals additive activity of the sites . The LCR is composed of a series of 5 DNase . sites (5'HSs), that form in the nucleus of erythroid precursors .", 'Mammalian beta-globin loci are composed of multiple orthologous genes whose expression is erythroid specific and developmentally regulated. The expression of these genes both from the endogenous locus and from transgenes is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR). The LCR encompasses 5 major HSs, each of which is highly homologous among humans, mice, and other mammals. The LCR encompasses 6 DNaseI hypersensitive sites (HSs) that bind transcription factors.', 'Mammalian beta-globin loci is composed of multiple orthologous genes whose expression is erythroid specific and developmentally regulated . Globin gene expression is regulated by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR) The LCR encompasses 5 major HSs, each of which is highly homologous among humans, mice, and other mammals .', "The expression of genes both from the endogenous locus and from transgenes is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR) The LCR is composed of a series of 5 DNase . sites (5'HSs), that form in the nucleus of erythroid precursors . In the chromatin of the epsilon globin gene, four DNase. sites that are located 6-18kb 5' of the . epsilon, Ggamma, Agamma, delta, beta .", "Mammalian beta-globin expression is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR). The LCR encompasses 5 major HSs, termed 5'HS1-5, located 6-22 Kb upstream of the epsilon-globin gene, each of which is highly homologous among humans, mice, and other mammals.", 'Mammalian beta-globin loci are composed of multiple orthologous genes whose expression is erythroid specific and developmentally regulated. Globin gene expression is regulated, in part, by the locus control region, which physically consists of five DNaseI-hypersensitive sites located 6-22 Kb upstream of the epsilon -globin gene.', "In the chromatin of erythroid cells the locus control region is characterized by four DNaseI hypersensitive sites that are located 6-18kb 5' of the epsilon globin gene . Expression of the five beta-like globin genes (epsilon, Ggamma, Agamma, delta, beta) in the human beta-globin locus depends on enhancement by a linked 15-kilobase region ."]
[ "http://www.ncbi.nlm.nih.gov/pubmed/9012519", "http://www.ncbi.nlm.nih.gov/pubmed/9114030", "http://www.ncbi.nlm.nih.gov/pubmed/11867225", "http://www.ncbi.nlm.nih.gov/pubmed/9744863", "http://www.ncbi.nlm.nih.gov/pubmed/12324650", "http://www.ncbi.nlm.nih.gov/pubmed/10828050", "http://www.ncbi.nlm.nih....
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/10828050", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 469, "text": "Mammalian beta-globin loci are composed of multiple orthologous genes whose expression is erythroid specific and d...
11
BioASQ-training11b
null
null
5fe08b50a43ad31278000031
factoid
Which loss-of-function ABCC8 mutation is associated with Pulmonary Arterial Hypertension (PAH)?
['c.G2873A', 'p.R958H']
['A de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child with idiopathic PAH.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/30354297" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30354297", "endSection": "abstract", "offsetInBeginSection": 399, "offsetInEndSection": 1563, "text": "Exome sequencing was performed to identify novel genes in a cohort of 99 pediatric and 134 adult-onset group I ...
11
BioASQ-training11b
null
null
5e2e1986fbd6abf43b000025
factoid
Which disease is rated using the Fahn-Tolosa-Marin scale?
['essential tremor']
['The Fahn-Tolosa-Marin clinical tremor rating scale is used for essential tremor.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/30045955", "http://www.ncbi.nlm.nih.gov/pubmed/16235669", "http://www.ncbi.nlm.nih.gov/pubmed/12722174", "http://www.ncbi.nlm.nih.gov/pubmed/31974808", "http://www.ncbi.nlm.nih.gov/pubmed/28665251", "http://www.ncbi.nlm.nih.gov/pubmed/29385927", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/28387629", "endSection": "abstract", "offsetInBeginSection": 1060, "offsetInEndSection": 1192, "text": "The Fahn-Tolosa-Marin (FTM) clinical tremor rating scale was used to score tremor, drawing, and drinking befor...
11
BioASQ-training11b
null
null
5e46eb7a3f5415952900000d
factoid
Which is the master oncogenic transcription factor in T-cell acute lymphoblastic leukemia?
['TAL1']
['The oncogenic transcription factor TAL1/SCL induces an aberrant transcriptional program in T-cell Acute lymphoblastic Leukemia (T-ALL) cells.', 'The oncogenic transcription factor TAL1/SCL induces an aberrant transcriptional program in T-Cell Acute lymphoblastic Leukemia (T-ALL) cells.', "The oncogenic transcription factor TAL1/SCL induces an aberrant transcriptional program in T-cell Acute lymphoblastic Leukemia (T-ALL) cells. It's not the master transcription factor, it's the oncogene.", 'The oncogenic transcription factor TAL1/SCL induces an aberrant transcriptional program in T-cell acute lymphoblastic leukemia (T-ALL) cells.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28028313", "http://www.ncbi.nlm.nih.gov/pubmed/27550837", "http://www.ncbi.nlm.nih.gov/pubmed/32633635", "http://www.ncbi.nlm.nih.gov/pubmed/28652130", "http://www.ncbi.nlm.nih.gov/pubmed/29326336", "http://www.ncbi.nlm.nih.gov/pubmed/9507011", "http://www.ncbi.nlm.ni...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/23263491", "endSection": "abstract", "offsetInBeginSection": 422, "offsetInEndSection": 747, "text": "We identify CNOT3 as a tumor suppressor mutated in 7 of 89 (7.9%) adult T-ALLs, and its knockdown causes tumors ...
11
BioASQ-training11b
null
null
5fe31312a43ad31278000042
factoid
HER-2 belongs to what family of proteins?
['Epidermal growth factor receptor family']
['Her-2 belongs to the family of the human epidermal growth factor receptors (EGFRs).', 'HER-2 belongs to the human epidermal growth factor receptor family, which is a family of proteins that also includes EGF, EGF1, HER3, HER4, HER5, and HER6.', 'HER-2 belongs to the human epidermal growth factor receptor family, which is a family of proteins that also includes EGF, EGF1, HER2, HER3, HER4, HER5, HER6, and HER8.', 'HER-2 belongs to the human epidermal growth factor receptor family, which is a family of proteins that also includes EGF, EGF1, HER2, HER3, HER4, HER5, and HER6.', 'HER-2 belongs to the human epidermal growth factor receptor family, which is a family of proteins that also includes EGF, EGF1, HER2, HER3, HER4, HER5, HER6, HER7, HER8, and HER9.', 'HER-2 is also known as human epidermal growth factor receptor 2 and is a member of the Epidermal growth factor receptor (EGFR) family, members of which are: EGFR, HER2, HER3, and HER4.', 'HER-2 belongs to the human epidermal growth factor receptor family, which is a family of proteins that also includes EGF, EGF1, HER2, HER3, HER4, HER5, HER6, HER7, and HER8.', 'Her-2 belongs to the human epidermal growth factor receptor 2 (EGF) family of proteins.', 'Herceptin-2 belongs to the human epidermal growth factor receptor 2 (HER2) family of proteins.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/11785652", "http://www.ncbi.nlm.nih.gov/pubmed/12767812", "http://www.ncbi.nlm.nih.gov/pubmed/30312728", "http://www.ncbi.nlm.nih.gov/pubmed/10480346", "http://www.ncbi.nlm.nih.gov/pubmed/25620423", "http://www.ncbi.nlm.nih.gov/pubmed/33202212", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30312728", "endSection": "abstract", "offsetInBeginSection": 308, "offsetInEndSection": 357, "text": " human epidermal growth factor receptor-2 (HER2) " }, { "beginSection": "abstract", "document": "htt...
11
BioASQ-training11b
null
null
5e639a0a1af46fc130000010
factoid
What does bDMARD stand for?
['biologic disease-modifying antirheumatic drugs']
['bDMARDs are biologic disease-modifying antirheumatic drugs.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/30876919", "http://www.ncbi.nlm.nih.gov/pubmed/29980576", "http://www.ncbi.nlm.nih.gov/pubmed/32370139", "http://www.ncbi.nlm.nih.gov/pubmed/31058442", "http://www.ncbi.nlm.nih.gov/pubmed/31816434", "http://www.ncbi.nlm.nih.gov/pubmed/28412711", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31058442", "endSection": "abstract", "offsetInBeginSection": 11, "offsetInEndSection": 148, "text": "Biologic disease-modifying antirheumatic drugs (bDMARDs) used for rheumatoid arthritis (RA) treatment have severa...
11
BioASQ-training11b
null
null
602598201cb411341a0000af
factoid
Approximately how many genes are contained in the X chromosome's non-pseudoautosomal region (non-PAR)?
['783']
["The total number of genes contained in the X chromosome's non- pseudoautosomal region (PAR) is 783.", 'There are 783 non-pseudoautosomal region (PAR) X-chromosome genes.', 'Six of 783 non-pseudoautosomal region (PAR) X-chromosome genes harbored loss-of-function mutations more frequently in males.', 'There are 783 non-pseudoautosomal region X-chromosome genes harbored loss-of-function mutations more frequently in males.', "The number of genes contained in the X chromosome's non-pseudoautosomal region (non-PAR) is 783.", 'The number of genes contained in the non- pseudo-autosomal region (PAR) X chromosome is 783.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27869828" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/27869828", "endSection": "abstract", "offsetInBeginSection": 388, "offsetInEndSection": 559, "text": "Six of 783 non-pseudoautosomal region (PAR) X-chromosome genes (ATRX, CNKSR2, DDX3X, KDM5C, KDM6A, and MAGEC3) h...
11
BioASQ-training11b
null
null
5d387c20a1e1595105000010
factoid
What is the chromosomal abnormality associated with Klinefelter Syndrome
['XXY']
['About 1 in 650 boys are born with an extra X chromosome (47,XXY or Klinefelter syndrome). 47,XXY', 'About 1 in 650 boys are born with an extra X chromosome (47,XXY or Klinefelter syndrome)']
[ "http://www.ncbi.nlm.nih.gov/pubmed/14018845", "http://www.ncbi.nlm.nih.gov/pubmed/17932453", "http://www.ncbi.nlm.nih.gov/pubmed/20172548", "http://www.ncbi.nlm.nih.gov/pubmed/6178494", "http://www.ncbi.nlm.nih.gov/pubmed/28275551", "http://www.ncbi.nlm.nih.gov/pubmed/27408358", "http://www.ncbi.nlm.ni...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/28782868", "endSection": "abstract", "offsetInBeginSection": 12, "offsetInEndSection": 106, "text": "Klinefelter's syndrome is a sex chromosome abnormality affecting approximately 1 in 1000 men. " }, { "beg...
11
BioASQ-training11b
null
null
5e669e0e1af46fc130000019
factoid
What distinguishes RIDLs from other transpozable elements?
['they are exonic']
['Here, we link these two concepts by proposing that exonic TEs act as RNA domains that are essential for lncRNA function. We term such elements Repeat Insertion Domains of LncRNAs (RIDLs).', 'One class of sequence elements that is enriched in lncRNA is represented by transposable elements (TEs), repetitive mobile genetic sequences that have contributed to genome evolution through a process termed exaptation. We term such elements Repeat insertion domains of LncRNAs (RIDLs).', 'Repeat Insertion Domains of LncRNAs (RIDLs) are exonic TEs that are essential for lncRNA function.', 'Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs . A growing number of RIDLs have been experimentally defined, where TE-derived fragments of lncRNA act as RNA-, DNA-, and protein-binding domains . We term such elements Repeat Insertion Domains of LncRNAs (RIDL)', 'Exonic TEs act as RNA domains that are essential for lncRNA function. We term such elements Repeat Insertion Domains of LncRNAs (RIDLs)']
[ "http://www.ncbi.nlm.nih.gov/pubmed/24850885" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/24850885", "endSection": "abstract", "offsetInBeginSection": 524, "offsetInEndSection": 710, "text": "Here, we link these two concepts by proposing that exonic TEs act as RNA domains that are essential for lncRNA f...
11
BioASQ-training11b
null
null
5d388192a1e1595105000015
factoid
What indication has FTY720 been approved for by the FDA?
['multiple sclerosis']
['FTY720 has been pproved (September 2010) by the U.S. FDA as a new treatment for multiple sclerosis (MS).']
[ "http://www.ncbi.nlm.nih.gov/pubmed/21456524" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/21456524", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 104, "text": "Fingolimod (FTY720): a recently approved multiple sclerosis drug based on a fungal secondary metabolite." }, { "...
11
BioASQ-training11b
null
null
605271d994d57fd87900000f
factoid
Is fingolimod a drug or a pro-drug?
['prodrug']
['FTY720 is a prodrug.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/15265669" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/15265669", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 121, "text": "FTY720 is a prodrug for FTY-phosphate, an agonist at four of the five known receptors for sphingosine-1-phosphate ...
11
BioASQ-training11b
null
null
6053bd5194d57fd879000018
factoid
Which conditions is caused by mutations in HFE?
['Hemochromatosis', 'haemochromatosis', 'Hereditary hemochromatosis (HH)']
['Mutations in the HFE gene, encoding the syntaxin binding protein HFE1, are the cause of hereditary hemochromatosis.', 'Hereditary hemochromatosis is an autosomal recessive disorder characterized by systemic iron overload with consequent tissue damage . The vast majority of HH patients are homozygous for the C282Y HFE mutation in HFE . The study was to establish a reliable, cost-effective molecular diagnostic service for this potentially lethal disorder in South Africa . The authors suggest lymphocytes from HH patients may have an increased capacity to respond to DEB-induced chromosome breakage .', 'Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by systemic iron overload with consequent tissue damage. The vast majority of HH patients are homozygous for the C282Y mutation in HFE.', 'Mutations in the HFE gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs.', 'Hereditary hemochromatosis (HH) is common among Caucasians. Hereditary hemochromatosis patients homozygous for the C282Y HFE mutation.', 'Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by systemic iron overload with consequent tissue damage. The vast majority of HH patients are homozygous for the C282Y mutation in HFE. HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients.', 'Mutations in HFE, a gene encoding a putative lysosomal trafficking protein, cause hereditary hemochromatosis.', 'The mechanisms by which the hereditary hemochromatosis protein, HFE, decreases transferrin-mediated iron uptake were examined Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity Hereditary hemochromatosis (HH) is common among Caucasians; reported disease frequencies vary from 0.3 to 0.8%.', 'Mutations in HFE, a gene encoding a putative lysosomal trafficking protein, are the cause of hereditary hemochromatosis.', 'HFE, a gene encoding a putative lysosomal trafficking protein, is involved in the pathogenesis of hereditary hemochromatosis.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/19146986", "http://www.ncbi.nlm.nih.gov/pubmed/9358014", "http://www.ncbi.nlm.nih.gov/pubmed/17255318", "http://www.ncbi.nlm.nih.gov/pubmed/21175851", "http://www.ncbi.nlm.nih.gov/pubmed/17061732", "http://www.ncbi.nlm.nih.gov/pubmed/15506716", "http://www.ncbi.nlm.ni...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/12874382", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 125, "text": "The mechanisms by which the hereditary hemochromatosis protein, HFE, decreases transferrin-mediated iron uptake we...
11
BioASQ-training11b
null
null
5fe0b4cda43ad31278000034
factoid
Which chromosome contains the TLR7 locus in the human genome?
['chromosomeX']
['The TLR7 locus acts in vivo as a tumor suppressor gene and is located on chromosome X (X chromosome).', 'The TLR7 locus acts on the X chromosome in humans and is located on chromosome 9 (XC7)', 'TLR7 is encoded by a gene on the X chromosome gene, denoted TLR7 in humans and Tlr7 in the mouse, and expressed in plasmacytoid dendritic cells (pDC) The Toll-like receptor 7 (TLR7) gene, encoded on human chromosome Xp22.3, is crucial for type I interferon production.', 'The X chromosome. TLR7 is encoded on X chromosome Xp22.', 'TLR7 is encoded by a gene on the X chromosome gene, denoted TLR7 in humans and Tlr7 in the mouse, and expressed in plasmacytoid dendritic cells (pDC) In this review we will discuss the role of the X chromosome encoded toll-like receptor 7 (TLR7) and interferon gamma (IFNγ) in the development of autoimmunity.', 'TLR7 (located on the X chromosome). Since the TLR7 gene is localized on the chromosome X, the allelic frequency of the Gln11Leu polymorphism was analyzed separately in males and females. TLR7 is encoded by a gene on the X chromosome gene, denoted TLR7 in humans and Tlr7 in the mouse, and expressed in plasmacytoid dendritic cells (pDC). The Toll-like receptor 7 (TLR7) gene, encoded on human chromosome Xp22.3, is crucial for type I interferon production. Xp22 harbours the TLR7 and TLR8 genes.', 'The X chromosome. TLR7 is encoded on X chromosome XP22.', 'The Toll-like receptor 7 (TLR7) gene, encoded on human chromosome Xp22.3, is crucial for type I interferon production . The major candidate gene for causation of the Yaa-associated autoimmune phenotypes has been TLR7 . The Toll like receptor 7 gene is encoded by a gene on the X chromosome gene, denoted TLR 7 in humans and Tlr7 in the mouse, and expressed in plasmacytoid dendritic cells .', 'The Toll-like receptor 7 (TLR7) gene, encoded on human chromosome Xp22.3, is crucial for type I interferon production.', 'The X chromosome. TLR7 is encoded by a gene on X chromosome Xp22.', 'TLR7 is encoded by a gene on the X chromosome gene, denoted TLR7 in humans and Tlr7 in the mouse. X-Chromosome complement and estrogen receptor signaling independently contribute to the enhanced TLR 7-mediated IFN-α production of plasmacytoid dendritic cells from women.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/25650422", "http://www.ncbi.nlm.nih.gov/pubmed/25339659", "http://www.ncbi.nlm.nih.gov/pubmed/29374079", "http://www.ncbi.nlm.nih.gov/pubmed/27347137", "http://www.ncbi.nlm.nih.gov/pubmed/25541140", "http://www.ncbi.nlm.nih.gov/pubmed/21396113", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30276444", "endSection": "abstract", "offsetInBeginSection": 479, "offsetInEndSection": 628, "text": "TLR7 is encoded by a gene on the X chromosome gene, denoted TLR7 in humans and Tlr7 in the mouse, and expressed ...
11
BioASQ-training11b
null
null
5fdb4392a43ad3127800002a
factoid
What is marked by DNaseI hypersensitive sites?
['sites of transcriptional regulation', 'gene regulatory sites', 'transcriptional regulation binding sites', 'cis-regulatory elements']
['Hypersensitive sites are chromosomal regions up to 2kb distant to known genomic regulatory regions and 5 kb from known regulatory regions.', 'Hypersensitivity of cis-regulatory elements to digestion with DNaseI remains the gold-standard approach to locating such elements.', 'DNaseI hypersensitive sites correspond to regions of the genome that have recently been isolated as well as specific genomic regulatory regions.', 'DNaseI hypersensitive sites are chromosomal regions up to 2kb distant to known genomic regulatory regions and 5 kb from known regulatory regions.', 'DNAaseI hypersensitive sites consist of covalent domains that are hypersensitive to DNA polymerase I and are generally found in genomic regulatory regions where transcription starts and stops at these regions.', 'Mapping DNaseI hypersensitive sites is commonly used to identify regulatory regions in the genome.', 'In genetics, DNase I hypersensitive sites (DHSs) are regions of chromatin that are sensitive to cleavage by the DNase I enzyme. In these specific regions of the genome, chromatin has lost its condensed structure, exposing the DNA and making it accessible.', 'Yes, DNaseI hypersensitive sites have been shown to be markers for all types of active cis-acting regulatory elements, including promoters, enhancers, silencers, insulators, and locus control regions.', 'DNA hypomethylation and the presence of DNaseI hypersensitive sites correlate with transcriptional activity of P1.1. Mapping sites within the genome that are hypersensitive to digestion withDNaseI is an important method for identifying DNA elements that regulate transcription.', 'Mapping sites within the genome that are hypersensitive to digestion with DNaseI is an important method for identifying DNA elements that regulate transcription . The identification of cis-regulatory elements is central to understanding gene transcription . Of two promoter-like duplications in each spacer, only the most upstream copy is associated with hypersensitivity to DNAaseI .', 'DNaseI hypersensitive sites correspond to regions along genomic regulatory regions where transcription starts and stops.', 'The identification of cis-regulatory elements is central to understanding gene transcription. Hypersensitivity of cis-regulatory elements to digestion with DNaseI remains the gold-standard approach to locating such elements in regions of open chromatin.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/16963707", "http://www.ncbi.nlm.nih.gov/pubmed/6310495", "http://www.ncbi.nlm.nih.gov/pubmed/16857058", "http://www.ncbi.nlm.nih.gov/pubmed/10828050", "http://www.ncbi.nlm.nih.gov/pubmed/15070753", "http://www.ncbi.nlm.nih.gov/pubmed/11409913", "http://www.ncbi.nlm.ni...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/18726358", "endSection": "abstract", "offsetInBeginSection": 175, "offsetInEndSection": 525, "text": "In the present study, the binding of HMG proteins (HMG1/2 and HMG14/17) to the core DNA sequence of DNaseI hyper...
11
BioASQ-training11b
null
null
5fdb2e23a43ad3127800000a
factoid
Which type of analysis does DeSeq2 perform?
['differential analysis of RNASeq data']
['DeSeq2 is a software for differential gene expression analysis of RNA sequencing data.', 'Both TMM and DESeq2 are widely used for differential gene expression analysis.', 'DeSeq2 performed differential gene expression analysis of paired-end tag sequencing data.', 'DeSeq2 supports differential gene expression analysis by combining multiple sources of evidence.', 'DeSeq2 enables differential gene expression analysis of multiple cellular origins.', 'DesSeq2 is widely used for differential gene expression analysis.', 'DESeq2 is a method for differential analysis of count data. It is used for the calculation of fold change and dispersion of RNA-seq data.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/33102519", "http://www.ncbi.nlm.nih.gov/pubmed/32368594", "http://www.ncbi.nlm.nih.gov/pubmed/30987214", "http://www.ncbi.nlm.nih.gov/pubmed/27280887", "http://www.ncbi.nlm.nih.gov/pubmed/27528462", "http://www.ncbi.nlm.nih.gov/pubmed/27748458", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/25516281", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 81, "text": "Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2." }, { "beginSection": "abstract...
11
BioASQ-training11b
null
null
5fdb41b6a43ad3127800001d
factoid
What is FeatureCounts used for?
['assigning sequence reads to genomic features']
['featureCounts is a general purpose program for assigning sequence reads to genomic features. It is a read summarization program suitable for counting reads generated from either RNA or genomic DNA sequencing experiments.', 'featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. We present featureCounts, a read summarization program suitable for counting reads generated from either RNA or genomic DNA sequencing experiments', 'featureCounts can be used to quantify reads generated from either RNA or DNA sequencing technologies in terms of any type of genomic feature. It implements chromosome hashing, feature blocking and other strategies to assign reads to features with high efficiency.', 'Featurecounts is a system that uses a novel Bayesian approach to calculate informative metrics at each depth required to inform a broad range of functional and evolutionary studies. The database is optimized to support fast interactive performance with the RNA-Seq platform.', 'featureCounts: an efficient general purpose program for assigning sequence reads to genomic features.', 'We present featureCounts, a read summarization program suitable for counting reads generated from either RNA or genomic DNA sequencing experiments.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/24227677", "http://www.ncbi.nlm.nih.gov/pubmed/28096075", "http://www.ncbi.nlm.nih.gov/pubmed/28915787", "http://www.ncbi.nlm.nih.gov/pubmed/30379987" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/24227677", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 101, "text": "featureCounts: an efficient general purpose program for assigning sequence reads to genomic features." }, { "beg...
11
BioASQ-training11b
null
null
5fdb41c5a43ad3127800001e
factoid
Which deep learning framework has been developed for cancer molecular subtype classification?
['DeepCC']
['Molecular subtyping of cancer is a critical step towards more individualized therapy and provides important biological insights into cancer heterogeneity. Although gene expression signature-based classification has been widely demonstrated to be an effective approach in the last decade, the widespread implementation has long been limited by platform differences, batch effects, and the difficulty to classify individual patient samples. DeepCC is a novel deep learning-based framework for cancer molecular subtype classification. It is platform independent, robust to missing data, and can be used for single sample prediction facilitating clinical implementation of cancer molecular subtyping.', 'DeepCC is a novel deep learning-based framework for cancer molecular subtype classification. It is based on deep learning of functional spectra quantifying activities of biological pathways. In two case studies about colorectal and breast cancer classification, DeepCC classifiers and DeepCC single sample predictors both achieved overall higher sensitivity, specificity, and accuracy.', 'The DeepCC framework is a novel deep learning-based framework for cancer molecular subtype classification.', 'DeepCC is a novel deep learning-based framework for cancer molecular subtype classification.', 'DeepCC is a novel deep learning-based framework for cancer molecular subtype classification. In two case studies about colorectal and breast cancer classification, DeepCC classifier and DeepCC single sample predictors both achieved overall higher sensitivity, specificity, and accuracy compared with other widely used classification methods such as random forests (RF), support vector machine (SVM), gradient boosting machine (GBM), and multinomial logistic regression algorithms.', 'DeepCC is a novel deep learning-based framework for cancer molecular subtype classification. DeepCC is platform independent, robust to missing data, and can be used for single sample prediction.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31420533" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31420533", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 90, "text": "DeepCC: a novel deep learning-based framework for cancer molecular subtype classification." }, { "beginSection": ...
11
BioASQ-training11b
null
null
601eafcd1cb411341a000056
factoid
What class of drugs have been given a black box warning for suicide?
['anti-depressants', 'selective serotonin reuptake inhibitors', 'SSRIs']
['In 2004, the European and American authorities released a black-box warning on antidepressants indicating an association with an increased risk of suicidality (suicidal ideation and behavior) in young people', 'In 2004, the US Food and Drug Administration (FDA) controversially issued a black box warning that antidepressants were associated with an increased risk of suicidal thoughts and behaviours in people aged under 18 years.', 'The U.S Food and Drug Administration issued a Black box warning in October 2004 after placebo-controlled trials of antidepressant medications found an increased risk of suicidal thoughts and behaviors among children and adolescents taking antidepressant medications relative to placebo.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31130881", "http://www.ncbi.nlm.nih.gov/pubmed/19488000", "http://www.ncbi.nlm.nih.gov/pubmed/26149466", "http://www.ncbi.nlm.nih.gov/pubmed/24696870", "http://www.ncbi.nlm.nih.gov/pubmed/20222492", "http://www.ncbi.nlm.nih.gov/pubmed/23109125", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31130881", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 98, "text": "The FDA \"Black Box\" Warning on Antidepressant Suicide Risk in Young Adults: More Harm Than Benefit" }, { "begin...
11
BioASQ-training11b
null
null
601eab7d1cb411341a000053
factoid
What nerve is affected in Carpel Tunnel syndrome?
['median']
['Carpel tunnel syndrome (CTS) is a condition in which median nerve compression results in paresthesias and pain in the wrist and hand.', 'Carpel tunnel syndrome is a common compression neuropathy of the median nerve causing pain, numbness and functional dysfunction of the hand.', 'Carpal tunnel syndrome (CTS) is a medical condition due to compression of the median nerve as it travels through the wrist at the carpal tunnel.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/24886455", "http://www.ncbi.nlm.nih.gov/pubmed/31762916", "http://www.ncbi.nlm.nih.gov/pubmed/19454094", "http://www.ncbi.nlm.nih.gov/pubmed/7085815", "http://www.ncbi.nlm.nih.gov/pubmed/2307889", "http://www.ncbi.nlm.nih.gov/pubmed/3627450", "http://www.ncbi.nlm.nih....
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32459879", "endSection": "abstract", "offsetInBeginSection": 325, "offsetInEndSection": 487, "text": "An ultrasound evaluation of the carpal tunnel can assess for pathologic changes of the median nerve, detect seco...
11
BioASQ-training11b
null
null
601eaac81cb411341a000051
factoid
What drug, used to treat rheumatoid arthritis, is an interleukin-1 receptor antagonist?
['anakinra', 'anti-il-1ra']
['Anakinra is an oral interleukin-1 receptor antagonist that is used to treat rheumatoid arthritis.', 'Anakinra is an anti-IL-1RA targeting IL-1beta with a central role in the occurrence of auto-inflammatory diseases.', 'Anakinra is an oral, small molecule, poly (ADP-ribose) polymerase inhibitor that binds to and inactivates the interleukin-1 receptor (IL1R) signaling pathway and is used to treat rheumatoid arthritis', 'Anakinra is an anti-IL-1RA targeting IL-1β with a central role in the occurrence of auto-inflammatory diseases.', 'Anakinra is an orally administered interleukin-1 receptor antagonist that is used to treat rheumatoid arthritis.', 'Anakinra is an anti-IL-1RA targeting IL-1β with a central role in the occurrence of auto-inflammatory diseases like rheumatoid arthritis.', 'Anakinra is an anti-IL-1RA targeting IL-1β with a central role in the occurrence of auto-inflammatory diseases']
[ "http://www.ncbi.nlm.nih.gov/pubmed/12932294", "http://www.ncbi.nlm.nih.gov/pubmed/11776280", "http://www.ncbi.nlm.nih.gov/pubmed/15984903", "http://www.ncbi.nlm.nih.gov/pubmed/29883212", "http://www.ncbi.nlm.nih.gov/pubmed/15965816", "http://www.ncbi.nlm.nih.gov/pubmed/31818504", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31818504", "endSection": "abstract", "offsetInBeginSection": 14, "offsetInEndSection": 124, "text": "Anakinra is an anti-IL-1RA targeting IL-1β with a central role in the occurrence of auto-inflammatory diseases" ...
11
BioASQ-training11b
null
null
601f08c11cb411341a00006c
factoid
Herpes viruses have what type of genome?
['double stranded DNA']
['The Herpesviridae are a family of viruses which have a large genome of linear, double-stranded DNA (> 120 kb)', 'The genome of Herpes viruses is composed of linear, double-stranded DNA.', 'Herpes simplex virus 1 (HSV-1) and HSV-2 are nuclear-replicating viruses composed of a double-stranded DNA genome', 'Herpes simplex virus 1 (HSV-1) has a double-stranded linear DNA genome that is approximately 152 kbp in length.', 'Herpesviridae are a family of viruses which have a large genome of linear, double-stranded DNA.', 'Herpes viruses have a linear, double-stranded DNA genome.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/17296606", "http://www.ncbi.nlm.nih.gov/pubmed/10627574", "http://www.ncbi.nlm.nih.gov/pubmed/26121674", "http://www.ncbi.nlm.nih.gov/pubmed/16160176", "http://www.ncbi.nlm.nih.gov/pubmed/12716057", "http://www.ncbi.nlm.nih.gov/pubmed/21390711", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/22020814", "endSection": "abstract", "offsetInBeginSection": 149, "offsetInEndSection": 263, "text": "Herpes simplex virus 1 (HSV-1) and HSV-2 are nuclear-replicating viruses composed of a double-stranded DNA genom...
11
BioASQ-training11b
null
null
601f105e1cb411341a000071
factoid
Which cancer can be treated with Darolutamide?
['Nonmetastatic castration-resistant prostate cancer']
['Darolutamide is used for treatment of nonmetastatic castration-resistant prostate cancer.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32905676", "http://www.ncbi.nlm.nih.gov/pubmed/31571146", "http://www.ncbi.nlm.nih.gov/pubmed/32282865", "http://www.ncbi.nlm.nih.gov/pubmed/31582533", "http://www.ncbi.nlm.nih.gov/pubmed/33237495", "http://www.ncbi.nlm.nih.gov/pubmed/32073798", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31953000", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 215, "text": "Lately the development of 3 novel second-generation androgen receptor antagonists (enzalutamide, apalutamide, and ...
11
BioASQ-training11b
null
null
6020b2b21cb411341a000086
factoid
What is the target of Volanesorsen?
['apoC-III']
['Volanesorsen is a second-generation antisense oligonucleotide inhibiting apoC-III (apolipoprotein C-III) transcription/translation that has been recently approved in Europe for Familial Chylomicronemia Syndrome (FCS) treatment.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31390883", "http://www.ncbi.nlm.nih.gov/pubmed/29889589", "http://www.ncbi.nlm.nih.gov/pubmed/32753844", "http://www.ncbi.nlm.nih.gov/pubmed/27271183", "http://www.ncbi.nlm.nih.gov/pubmed/32589506", "http://www.ncbi.nlm.nih.gov/pubmed/28595549", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32589506", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 99, "text": "Treatment with Volanesorsen, a 2'-O-Methoxyethyl-Modified Antisense Oligonucleotide Targeting APOC3" }, { "beginS...
11
BioASQ-training11b
null
null
602343051cb411341a00008d
factoid
Roflumilast Cream is effective for which disease?
['psoriasis']
['Roflumilast Cream has been shown to be effective for psoriasis.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/33197348", "http://www.ncbi.nlm.nih.gov/pubmed/32668113", "http://www.ncbi.nlm.nih.gov/pubmed/27038440", "http://www.ncbi.nlm.nih.gov/pubmed/32845114" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32668113", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 232, "text": "BACKGROUND: Systemic oral phosphodiesterase type 4 (PDE-4) inhibitors have been effective in the treatment of psor...
11
BioASQ-training11b
null
null
6023518f1cb411341a000097
factoid
Which company developed eptinezumab?
['Lundbeck Seattle BioPharmaceuticals']
['Eptinezumab was developed by Lundbeck Seattle BioPharmaceuticals.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32266704" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32266704", "endSection": "abstract", "offsetInBeginSection": 267, "offsetInEndSection": 415, "text": "Eptinezumab, delivered by intravenous (IV) administration, is being developed by Lundbeck Seattle BioPharmaceuti...
11
BioASQ-training11b
null
null
6026ef311cb411341a0000d4
factoid
Which network analysis method can you use for prioritization of metabolic disease genes?
['metPropagate']
['metPropagate is a network-guided propagation of metabolomic information for prioritization of metabolic disease genes. metPropagate was able to prioritize at least one causative gene in the top 20th percentile of candidate genes for 92% of patients with known IEMs.', 'Many inborn errors of metabolism (IEMs) are amenable to treatment, therefore early diagnosis is imperative. Whole-exome sequencing (WES) variant prioritization coupled with phenotype-guided clinical and bioinformatics expertise is typically used to identify disease-causing variants; however, it can be challenging to identify the causal candidate gene when a large number of rare and potentially pathogenic variants are detected. MetPropagate is a network-based approach that uses untargeted metabolomics (UM) data from a single patient and a group of controls to prioritize candidate genes in patients with suspected IEMs.', "MetPropagate is a network-guided propagation of metabolomic information for prioritization of metabolic disease genes. Basically, you take a single patient and a group of controls, and compare their metabolomic data to the data of other patients with IEMs. If you find a gene that is in the top 20% of the population, you rank it higher in the network. If not, you don't rank it at all.", 'Met Propagate is a network-based approach that uses untargeted metabolomics (UM) data from a single patient and a group of controls to prioritize candidate genes in patients with suspected IEMs.', "MetPropagate is a network-guided propagation of metabolomic information for prioritization of metabolic disease genes. Basically, you take a single patient and a group of controls, and compare their metabolomic data to the data of other patients with IEMs. If you find a gene that is in the top 20% of the population, you rank it higher than the other genes in the population. If not, you don't."]
[ "http://www.ncbi.nlm.nih.gov/pubmed/32637154" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32637154", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 114, "text": "metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes." },...
11
BioASQ-training11b
null
null
6027f8ae1cb411341a0000ed
factoid
What is the mode of administration of AZD8601?
['Intradermal']
['AZD8601 is administered intradermally.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32438492" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32438492", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 198, "text": "Intradermal delivery of AZD8601, an mRNA designed to produce vascular endothelial growth factor A (VEGF-A), has pr...
11
BioASQ-training11b
null
null
602c19e71cb411341a00011a
factoid
Which class of disorders are caused by AMPA receptor GluA2 subunit defects?
['Neurodevelopmental disorders']
['Mutations in the AMPA receptor GluA2 subunit cause a variety of neurodevelopmental disorders including autism spectrum disorder.', 'AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Mutations lead to a decrease in agonist-evoked current mediated by mutant subunits.', 'AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes.', 'AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. De-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.', 'AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31300657" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31300657", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 80, "text": "AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders." }, { "beginSection": "abstract"...
11
BioASQ-training11b
null
null
6030fe7a1cb411341a000128
factoid
Where are integrins localized in a cell?
['transmembrane']
['Integrins are transmembrane glycoproteins that are broadly distributed in living organisms.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32584192", "http://www.ncbi.nlm.nih.gov/pubmed/32950537" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32584192", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 57, "text": "The extracellular domain of plasma membrane integrin αvβ3" }, { "beginSection": "abstract", "document":...
11
BioASQ-training11b
null
null
6032899c1cb411341a000144
factoid
What is a bacteriocin?
['antimicrobial peptide of bacteria']
['Bacteriocins, the ribosomally produced antimicrobial peptides of bacteria, represent an untapped source of promising antibiotic alternatives.\nOne such strategy involves using narrow-spectrum protein antibiotics (so-called bacteriocins), which diverse bacteria use to compete against closely related species.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31483516", "http://www.ncbi.nlm.nih.gov/pubmed/31794868", "http://www.ncbi.nlm.nih.gov/pubmed/31705720" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31705720", "endSection": "abstract", "offsetInBeginSection": 513, "offsetInEndSection": 679, "text": "One such strategy involves using narrow-spectrum protein antibiotics (so-called bacteriocins), which diverse bac...
11
BioASQ-training11b
null
null
6032a0e21cb411341a000148
factoid
What protein complex is altered in "Coffin-Siris syndrome"?
['SWI/SNF complex']
['he genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites.', 'Report. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32161024", "http://www.ncbi.nlm.nih.gov/pubmed/31706665", "http://www.ncbi.nlm.nih.gov/pubmed/29907796", "http://www.ncbi.nlm.nih.gov/pubmed/30879640", "http://www.ncbi.nlm.nih.gov/pubmed/29698805", "http://www.ncbi.nlm.nih.gov/pubmed/30838730" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30879640", "endSection": "abstract", "offsetInBeginSection": 421, "offsetInEndSection": 486, "text": "Mutations in other SWI/SNF components cause Coffin-Siris syndrome" }, { "beginSection": "abstract", ...
11
BioASQ-training11b
null
null
6032a8b91cb411341a000149
factoid
What is Aortitis?
['inflammation of the aorta']
['Aortitis is the inflammation of the aorta due to various causes, such as the manifestation of an underlying infectious or noninfectious disease process.', 'Aortitis is an inflammation of the aorta due to various causes. It can be a symptom of an underlying infectious or non-infectious disease process.', 'Aortitis is inflammation of the aorta due to various causes. It can be caused by an underlying infectious or non-infectious disease process.', 'Aortitis is the inflammation of the aorta due to various causes. Aortitis is classified as non-infectious or infectious.', 'Aortitis includes conditions with infectious or non-infectious etiology, characterized by inflammatory changes in one or more layers in aortic wall.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32234379", "http://www.ncbi.nlm.nih.gov/pubmed/19867969", "http://www.ncbi.nlm.nih.gov/pubmed/21787438", "http://www.ncbi.nlm.nih.gov/pubmed/27471062", "http://www.ncbi.nlm.nih.gov/pubmed/22991323", "http://www.ncbi.nlm.nih.gov/pubmed/23891316", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/33186247", "endSection": "abstract", "offsetInBeginSection": 19, "offsetInEndSection": 84, "text": "Aortitis is the inflammation of the aorta due to various causes. " }, { "beginSection": "abstract", "d...
11
BioASQ-training11b
null
null
60314c361cb411341a00012e
factoid
What is a decoy exosome?
['an exosome may carry antigens as a decoy', '']
['exosomes display a large repertoire of tumor antigens that induce autoantibodies and exert a decoy function against complement-mediated cytotoxicity.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27843457", "http://www.ncbi.nlm.nih.gov/pubmed/30651550", "http://www.ncbi.nlm.nih.gov/pubmed/21364924", "http://www.ncbi.nlm.nih.gov/pubmed/22396543" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30651550", "endSection": "abstract", "offsetInBeginSection": 1028, "offsetInEndSection": 1177, "text": "exosomes display a large repertoire of tumor antigens that induce autoantibodies and exert a decoy function ag...
11
BioASQ-training11b
null
null
60320ef51cb411341a000130
factoid
Which was the first oral drug for the treatment of multiple sclerosis by the US Food and Drug Administration (FDA)?
['FTY720', 'Fingolimod']
['FTY720 (Fingolimod) was approved as the first oral drug for the treatment of multiple sclerosis by the US Food and Drug Administration (FDA) in 2010.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31785606" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31785606", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 257, "text": "FTY720 (Fingolimod) is a known sphingosine-1-phosphate (S1P) receptor agonist that exerts strong anti-inflammatory...
11
BioASQ-training11b
null
null
6053ba5b94d57fd879000017
factoid
How many patients were enrolled in the FREEDOMS clinical trial?
['1,272']
['FREEDOMS study, a randomised, double-blind study included 1272 patients with relapsing-remitting MS.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/22494956" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/22494956", "endSection": "abstract", "offsetInBeginSection": 534, "offsetInEndSection": 866, "text": "We did subgroup analyses of ARRs (primary outcome) and confirmed disability progression (a secondary outcome) ov...
11
BioASQ-training11b
null
null
605281cf94d57fd879000015
factoid
What is blepharospasm?
['involuntary blinking', 'increased blinking and involuntary muscle spasms of the eyelid', 'involuntary closures of the eyelids', 'increased blinking and involuntary muscle spasms of the eyelid, remain poorly understood', 'involuntary closures of the eyelids due to spasms of the orbicularis oculi muscle.', 'movement disorder characterized by increased blinking and involuntary muscle spasms of the eyelid', 'a disabling movement disorder characterized by increased blinking and involuntary muscle spasms of the eyelid']
['The neurophysiological disruptions underlying blepharospasm, a disabling movement disorder characterized by increased blinking and involuntary muscle spasms of the eyelid, remain poorly understood.', 'Yes, blepharospasm is an adult-onset dystonia typically present at rest and exacerbated by bright light, stress and voluntary movements of eyes and eyelids.', 'Blepharospasm is a type of focal dystonia depicted by periodic and spontaneous closure of the orbicularis oculi and surrounding muscles.', 'Blepharospasm (BL) is characterized by involuntary closures of the eyelids due to spasms of the orbicularis oculi muscle.', 'Blepharospasm is a type of focal dystonia. It is a movement disorder characterized by periodic and spontaneous closure of the orbicularis oculi muscle and surrounding muscles.', "Blepharospasm is a type of focal dystonia. It's a movement disorder characterized by periodic and spontaneous closure of the orbicularis oculi muscle and surrounding muscles.", "Blepharospasm is a type of focal dystonia. It's a movement disorder characterized by periodic and spontaneous closure of the orbicularis oculi and surrounding muscles.", 'Blepharospasm means involuntary twitching, blinking or closure of the eyelids resulting from any cause.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/14871168", "http://www.ncbi.nlm.nih.gov/pubmed/23747003", "http://www.ncbi.nlm.nih.gov/pubmed/21221669", "http://www.ncbi.nlm.nih.gov/pubmed/32091988", "http://www.ncbi.nlm.nih.gov/pubmed/32250472", "http://www.ncbi.nlm.nih.gov/pubmed/28629634", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31889644", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 136, "text": "Blepharospasm is a type of focal dystonia depicted by periodic and spontaneous closure of the orbicularis oculi an...
11
BioASQ-training11b
null
null
605256a894d57fd87900000b
factoid
Which tool has been developed for microRNA-target enrichment and network-based analysis?
['MIENTURNET']
['MIENTURNET (MicroRNA ENrichment TURned NETwork) is a web tool that receives in input a list of miRNAs or mRNAs and tackles the problem of prioritizing miRNA-target interactions by performing a statistical analysis followed by a fully featured network-based visualization and analysis. The statistics is used to assess the significance of an over-representation of miRNA-target interactions and then MIENTURNET filters based on the statistical significance associated with each miRNA-target interaction. In addition, the holistic approach of the network theory is used to infer possible evidences of miRNA regulation by capturing emergent properties of the miRNA-target regulatory network that would be not evident through a pairwise analysis of the individual components.', 'MIENTURNET (MicroRNA ENrichment TURned NETwork) is an interactive web tool for microRNA-target enrichment and network-based analysis.', 'MIENTURNET is a web tool for microRNA-target enrichment and network-based analysis. MIENTURNET offers the possibility to consistently perform both statistical and network-based analyses.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31684860" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31684860", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 94, "text": "MIENTURNET: an interactive web tool for microRNA-target enrichment and network-based analysis." }, { "beginSectio...
11
BioASQ-training11b
null
null
60579cb394d57fd87900002e
factoid
What promotes amyloid-peptide beta 42 (Aβ42) accumulation in neuroblastoma cells?
['apoE4-165']
["The apolipoprotein (apo) E4 isoform is the strongest risk factor for late-onset Alzheimer's disease (AD). ApoE4 is more susceptible to proteolysis than apoE2 and apoE3 isoforms and carboxyl-terminal truncated apoE4 forms have been found in AD patients' brain. A specific apoE4 fragment, apoE4-165, promotes amyloid-peptide beta 42 (Aβ42) accumulation in human neuroblastoma SK-N-SH cells and increased intracellular reactive oxygen species formation, two events considered to occur early in AD pathogenesis.", 'The amyloid-peptide beta 42 (Aβ42) accumulates in neuroblastoma cells due to a protein called apoE4-165, which is an apolipoprotein (APOE4). This protein is the most common protein responsible for late-onset Alzheimer disease.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27476701" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/27476701", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 798, "text": "The apolipoprotein (apo) E4 isoform is the strongest risk factor for late-onset Alzheimer's disease (AD). ApoE4 is...
11
BioASQ-training11b
null
null
6057bf0694d57fd879000031
factoid
Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
['EpiMethylTag']
['EpiMethylTag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.', 'EpiMethyl tag is a method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.', 'Activation of regulatory elements is thought to be inversely correlated with DNA methylation levels. However, it is difficult to determine whether DNA methylation is compatible with chromatin accessibility or transcription factor (TF) binding if assays are performed separately. EpiMethylTag is a fast, low-input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.', 'EpiMethyl tag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.', 'EpiMethylTag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion to simultaneously examine accessibility/TF binding and methylation on the same DNA.', 'EpiMethyl tag is a technology that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31752933" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31752933", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 90, "text": "EpiMethylTag: simultaneous detection of ATAC-seq or ChIP-seq signals with DNA methylation." }, { "beginSection": ...
11
BioASQ-training11b
null
null
6057c2f894d57fd879000033
factoid
Which protein is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks?
['KLF4']
['KLF4 is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks.', 'KLF4 is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks. Cell fate transitions are accompanied by global transcriptional, epigenetic and topological changes driven by transcription factors. Inducible depletion of KLF factors in PSCs caused a genome-wide decrease in enhancer connectivity.', 'KLF4 is involved in the organization and regulation of pluripotency-associated three-dimensional enhancers networks.', 'KLF4 is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks. How transcription factors orchestrate the complex molecular changes around their target gene loci remains incompletely understood.', 'KLF4 is involved in the organization and regulation of pluripotency-associated enhancer networks. How transcription factors orchestrate the complex molecular changes around their target gene loci remains incompletely understood.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31548608" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31548608", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 115, "text": "KLF4 is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks." }...
11
BioASQ-training11b
null
null
6057c78994d57fd879000034
factoid
Where is the agouti-related peptide expressed?
['in the Hypothalamus']
['Function. Agouti-related protein is expressed primarily in the adrenal gland, subthalamic nucleus, and hypothalamus, with lower levels of expression in the testis, kidneys, and lungs.', 'The agouti-related peptide is expressed in neurons in the hypothalamus.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31974377", "http://www.ncbi.nlm.nih.gov/pubmed/31557134", "http://www.ncbi.nlm.nih.gov/pubmed/31995643", "http://www.ncbi.nlm.nih.gov/pubmed/31692367" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31974377", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 104, "text": "Activation of Agouti-Related Peptide (AgRP)-expressing neurons promotes feeding and insulin resistance. " }, {...
11
BioASQ-training11b
null
null
60578f2894d57fd87900002c
factoid
What is the function of ketohexokinase-A?
['Ketohexokinase is the central fructose-metabolising enzyme']
['The central fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two isoforms: KHK-A and KHK-C.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27088854", "http://www.ncbi.nlm.nih.gov/pubmed/31750240", "http://www.ncbi.nlm.nih.gov/pubmed/26083752", "http://www.ncbi.nlm.nih.gov/pubmed/29604362" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/26083752", "endSection": "abstract", "offsetInBeginSection": 132, "offsetInEndSection": 320, "text": "The central fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two isoforms: KHK-A and KHK-C,...
11
BioASQ-training11b
null
null
60578bc994d57fd87900002b
factoid
Which bioconductor tool has been developed for accessing bacterial regulatory networks?
['regutools']
['The Regutools R package to facilitates programmatic access to RegulonDB data in computational biology. regutools gives researchers the possibility of writing reproducible workflows with automated queries to RegulonDB. The regutools package serves as a bridge between RegulonDB data and the Bioconductor ecosystem by reusing the data structures and statistical methods powered by other Bioconductor packages.', 'RegulonDB has collected, harmonized and centralized data from hundreds of experiments for nearly two decades and is considered a point of reference for transcriptional regulation in Escherichia coli K12. The regutools package serves as a bridge between RegulonDB data and the Bioconductor ecosystem by reusing the data structures and statistical methods powered by other Bioconductor packages.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32573705" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32573705", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 68, "text": "Programmatic access to bacterial regulatory networks with regutools." }, { "beginSection": "abstract", "docum...
11
BioASQ-training11b
null
null
606081e594d57fd879000041
factoid
What impacts stability of genomic imprinting in mouse pluripotent stem cells?
['a susceptibility locus on chromosome 13']
['A susceptibility locus on chromosome 13 profoundly impacts the stability of genomic imprinting in mouse pluripotent stem cells.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32187532" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32187532", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 127, "text": "A Susceptibility Locus on Chromosome 13 Profoundly Impacts the Stability of Genomic Imprinting in Mouse Pluripotent Stem...
11
BioASQ-training11b
null
null
6057c0cd94d57fd879000032
factoid
What are the end products of the shikimate pathway?
['aromatic amino acids']
['The shikimate pathway responsible for the generation of aromatic amino acids']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32616740", "http://www.ncbi.nlm.nih.gov/pubmed/31961458", "http://www.ncbi.nlm.nih.gov/pubmed/32154231", "http://www.ncbi.nlm.nih.gov/pubmed/32642925", "http://www.ncbi.nlm.nih.gov/pubmed/32538627" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32642925", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 104, "text": "The shikimate pathway is indispensable for the biosynthesis of natural products with aromatic moieties. " }, {...
11
BioASQ-training11b
null
null
6057057c94d57fd879000023
factoid
Which key gene is involved in syndromic obesity phenotype of patients with 1p21.3 microdeletions?
['MIR137']
['MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21. 3 microdeletions.', 'MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.', 'The MIR137 gene. It is the one that is responsible for the obesity phenotype of patients with 1p21.3 microdeletions.', 'The MIR137 gene. It is the one that is responsible for the obesity phenotype of patients carrying 1p21.3 microdeletions.', 'Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. MIR137 is suggested as the mediator of the obesity phenotype of patients carrying 1p21.3 microdeletions.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27822311", "http://www.ncbi.nlm.nih.gov/pubmed/22003227" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/27822311", "endSection": "abstract", "offsetInBeginSection": 12, "offsetInEndSection": 552, "text": "Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily o...
11
BioASQ-training11b
null
null
6031270b1cb411341a00012c
factoid
What is the main manifestation of Liebenberg syndrome?
['elbow dysplasia']
['Liebenberg syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly.', 'Liebenberg syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly . It is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics .', 'People who are affected by Liebenberg Syndrome suffer from three main symptoms: Dysplasia (improper formation) of the bony components of the elbow. Abnormal shape of carpal bones. Brachydactyly, a symptom where the fingers and toes are shorter than normal.', 'Liebenberg syndrome (MIM 186550) is a very rare autosomal dominant condition . It is characterized by dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly . We speculate that the area of deletion contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds .', 'Liebenberg syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly']
[ "http://www.ncbi.nlm.nih.gov/pubmed/23940102", "http://www.ncbi.nlm.nih.gov/pubmed/23395106", "http://www.ncbi.nlm.nih.gov/pubmed/23587911" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/23940102", "endSection": "abstract", "offsetInBeginSection": 385, "offsetInEndSection": 513, "text": "We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus...
11
BioASQ-training11b
null
null
5e4565c63f54159529000001
factoid
Which disease is treated with Anti–Siglec-8 Antibody?
['Eosinophilic Gastritis and Duodenitis']
['Anti-Siglec-8 Antibody was shown to be effective for Eosinophilic Gastritis and Duodenitis. It is also undergoing clinical investigation for treatment of allergic, inflammatory, and proliferative diseases.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/29680938", "http://www.ncbi.nlm.nih.gov/pubmed/31465299", "http://www.ncbi.nlm.nih.gov/pubmed/31401630", "http://www.ncbi.nlm.nih.gov/pubmed/33085861" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/33085861", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 65, "text": "Anti-Siglec-8 Antibody for Eosinophilic Gastritis and Duodenitis." }, { "beginSection": "abstract", "document...
11
BioASQ-training11b
null
null
601cb4541cb411341a000024
factoid
What syndrome is associated with mutations in lysine methyltransferase 2D KMT2D?
['Kabuki syndrome']
['Mutations in lysine methyltransferase 2D (KMT2D) gene, which encodes the catalytic core of a multisubunit chromatin remodeling enzyme, are responsible for the neurodegenerative disorder Kabuki syndrome.', 'Mutations in lysine methyltransferase 2D (KMT2D) cause Kabuko syndrome.', 'Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D).', 'Mutations in the lysine methyltransferase 2D (KMT2D) gene, which encodes the alpha-subunit of the kappaB gene, are associated with the autosomal dominant hemophagocytic syndrome type 4 or Ferroportin syndrome.', 'Kabuki syndrome is a rare autosomal dominant disorder caused by mutations in the lysine methyltransferase 2D (KMT2D) gene.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28475860", "http://www.ncbi.nlm.nih.gov/pubmed/28007623", "http://www.ncbi.nlm.nih.gov/pubmed/31935506", "http://www.ncbi.nlm.nih.gov/pubmed/31813957", "http://www.ncbi.nlm.nih.gov/pubmed/24838796", "http://www.ncbi.nlm.nih.gov/pubmed/29914387", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31816409", "endSection": "abstract", "offsetInBeginSection": 12, "offsetInEndSection": 134, "text": "Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D ...
11
BioASQ-training11b
null
null
601ebbeb1cb411341a00005b
factoid
How many nucleotides long is the HOTAIR CNE?
['32']
['The HOTAIR CNE is a 32-nucleotide long conserved noncoding element', 'HOTAIR was proposed to regulate either HoxD cluster genes in trans or HoxC cluster genes in cis, a mechanism that remains unclear. A 32-nucleotide conserved noncoding element (CNE) was identified as HOTAIR ancient sequence that likely originated at the root of vertebrate.', 'The HOTAIR element is a 32-nucleotide conserved noncoding element']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32268280" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32268280", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 807, "text": "HOTAIR was proposed to regulate either HoxD cluster genes in trans or HoxC cluster genes in cis, a mechanism that ...
11
BioASQ-training11b
null
null
602967de1cb411341a000113
factoid
What is the function of osteolectin?
['osteogenic growth factor']
['C-type lectin domain family 11 member A (Clec11a), also known as stem cell growth factor (SCGF), C-type lectin superfamily member 3 (CLECSF3), or osteolectin was initially identified as a growth factor for hematopoietic progenitor cells.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32003015", "http://www.ncbi.nlm.nih.gov/pubmed/30632962", "http://www.ncbi.nlm.nih.gov/pubmed/33053358" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32003015", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 238, "text": "C-type lectin domain family 11 member A (Clec11a), also known as stem cell growth factor (SCGF), C-type lectin sup...
11
BioASQ-training11b
null
null
604911661cb411341a000169
factoid
What is ECMO?
['Extracorporeal membrane oxygenation']
['Extracorporeal membrane oxygenation (ECMO) is an increasingly prevalent treatment for acute respiratory failure (ARF)', "The method of extracorporeal membrane oxygenation (VA-ECMO) has developed from being used as a 'rescue therapy' to become an accepted treatment option for patients with acute lung failure.", 'Extracorporeal membrane oxygenation (ECMO) is an increasingly prevalent treatment for acute respiratory failure (ARF) and is used to treat severe symptoms of Covid-19 as well as other cases of severe respiratory and/or circulatory failure over periods of several days to several weeks', 'Extracorporeal membrane oxygenation (ECMO) is an increasingly prevalent treatment for acute respiratory failure (ARF).']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32144062", "http://www.ncbi.nlm.nih.gov/pubmed/24809246", "http://www.ncbi.nlm.nih.gov/pubmed/28413074", "http://www.ncbi.nlm.nih.gov/pubmed/30386759", "http://www.ncbi.nlm.nih.gov/pubmed/29768983", "http://www.ncbi.nlm.nih.gov/pubmed/23817232", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32144062", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 103, "text": "Over the last decade, the use of extracorporeal membrane oxygenation (ECMO) has increased significantly" }, { ...
11
BioASQ-training11b
null
null
601d74391cb411341a000041
factoid
Which receptors does bimagrumab block?
['activin type II receptors']
['Bimagrumab blocks the activin type II receptors.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/30095981" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/30095981", "endSection": "abstract", "offsetInBeginSection": 11, "offsetInEndSection": 185, "text": "Bimagrumab is a fully human monoclonal antibody that blocks the activin type II receptors, preventing the activit...
11
BioASQ-training11b
null
null
602c1d3b1cb411341a00011e
factoid
Which RNA polymerase transcribes enhancer RNAs?
['RNA polymerase II', 'RNA polII', 'RNAPII']
["Analogously to mRNAs, the non-protein-encoding enhancer RNAs are synthesized by RNA Pol II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail.", 'Enhancers are bound by sequence-specific transcription factors, which in turn facilitate the cooperative binding of chromatin remodeling enzymes, histone modifying enzymes, other co-factors, and ultimately the RNA polymerase II complex (RNA pol II). Both the target genes and the enhancers are transcribed by RNA pol II.', "Analogously to mRNAs, the non-protein-encoding enhancer RNAs are synthesized by RNA Pol II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail. Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II)", 'Enhancer RNAs (eRNAs) are a group of lncRNAs transcribed from enhancers by RNA Polymerase II.', "Analogously to mRNAs, the non-protein-encoding enhancers are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail. Recent evidence indicates that miRNA genes are transcribed by RNA Pol II (Pol II)", "Because the transcripts of most enhancer genes are the products of type-II RNA polymerase, enhancer RNA Pol II (Pol II) has a poly(A) tail and appears in expressed sequence tags (EST). Analogously to mRNAs, the non-protein-encoding enhancer RNAs (ncRNAs) are synthesized by RNAPol II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tails.", "Because the transcripts of most enhancers are the products of type-II RNA polymerase, enhancer RNA Pol II (Pol II) has a poly(A) tail and appears in expressed sequence tags (EST). Analogously to mRNAs, the non-protein-encoding enhancer RNAs are synthesized by RNAPol II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly ( A) tail.", 'The enhancer produced an eRNA, termed AS1eRNA, that enhanced DHRS4-AS1 transcription by mediating the spatial interactions of the enhancer and DHRS4-AS1 promoter in cooperation with RNA polymerase II and p300/CBP.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27662874", "http://www.ncbi.nlm.nih.gov/pubmed/30448228", "http://www.ncbi.nlm.nih.gov/pubmed/28533025", "http://www.ncbi.nlm.nih.gov/pubmed/27662872", "http://www.ncbi.nlm.nih.gov/pubmed/32060325", "http://www.ncbi.nlm.nih.gov/pubmed/3299107", "http://www.ncbi.nlm.ni...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/29378668", "endSection": "abstract", "offsetInBeginSection": 689, "offsetInEndSection": 894, "text": "Remarkably, we found that in response to E2 TDG localized to enhancers which also recruit ERα, RNA Pol II and ot...
11
BioASQ-training11b
null
null
5fe3131ba43ad31278000047
factoid
Which cell secretes the enzyme tryptase?
['Mast cells']
['Degranulation of mast cells (MCs) releases several mediators such as vascular endothelial growth factor (VEGF), chymase, tryptase, histamine, and cytokines.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31709696", "http://www.ncbi.nlm.nih.gov/pubmed/31858758", "http://www.ncbi.nlm.nih.gov/pubmed/31853339" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31709696", "endSection": "abstract", "offsetInBeginSection": 12, "offsetInEndSection": 168, "text": "Degranulation of mast cells (MCs) releases several mediators such as vascular endothelial growth factor (VEGF), c...
11
BioASQ-training11b
null
null
6048ff3e1cb411341a000160
factoid
What disease does BCG immunotherapy used to treat?
['bladder cancer', 'bladder cancer (NMIBC)', 'high-grade non-muscle invasive bladder cancer (NMIBC)']
['Bacillus Calmette-Guérin (BCG) immunotherapy is used for treatment of bladder cancer.', 'Bacillus Calmette- Guérin (BCG) immunotherapy is used for treatment of bladder cancer.', 'Bacillus Calmette- Guérin (BCG) immunotherapy is used in the treatment of bladder cancer.', 'BCG immunotherapy is the choice of care for high-grade non-muscle invasive bladder cancer (NMIBC) after transurethral resection.', 'BCG immunotherapy is the choice of care for high-grade non-muscle invasive bladder cancer.', 'Bacillus Calmette-guérin (BCG) immunotherapy is used in the treatment of bladder cancer.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31755155", "http://www.ncbi.nlm.nih.gov/pubmed/23517232", "http://www.ncbi.nlm.nih.gov/pubmed/29576423", "http://www.ncbi.nlm.nih.gov/pubmed/12084297", "http://www.ncbi.nlm.nih.gov/pubmed/10575270", "http://www.ncbi.nlm.nih.gov/pubmed/26032289", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31755155", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 130, "text": "Bacillus Calmette-Guérin immunotherapy for bladder cancer: a review of immunological aspects, clinical effects and BCG i...
11
BioASQ-training11b
null
null
60292d191cb411341a00010e
factoid
Which epigenetic marks are deposited by PRC1?
['H2Aub1']
['PRC2 induces histone H3 lysine 27 (H3K27) trimethylation (H3K27me3), which is subsequently read by PRC1 that further catalyzes H2A monoubiquitination (H2Aub1), creating a transcriptional silent chromatin conformation.', 'H2A monoubiquitination (H2Aub1), catalyzed by Polycomb-Repressive Complex1 (PRC1) is a key epigenetic mark in Polycomb silencing . Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase .', 'Histone H2A monoubiquitination (H2Aub1), catalyzed by Polycomb-Repressive Complex1 (PRC1), is a key epigenetic mark in Polycomb silencing . Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase .']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27410265", "http://www.ncbi.nlm.nih.gov/pubmed/26151332", "http://www.ncbi.nlm.nih.gov/pubmed/21311219", "http://www.ncbi.nlm.nih.gov/pubmed/25071008", "http://www.ncbi.nlm.nih.gov/pubmed/19462008", "http://www.ncbi.nlm.nih.gov/pubmed/25754661", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/27410265", "endSection": "abstract", "offsetInBeginSection": 395, "offsetInEndSection": 571, "text": " In Arabidopsis thaliana, LHP1 co-localizes with H3K27me3 epigenetic marks throughout the genome and interacts w...
11
BioASQ-training11b
null
null
5d35ee08b3a6380763000012
factoid
Which key gene is involved in interstitial 6q25 microdeletion syndrome?
['ARID1B']
['Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, microcephaly, and non-specific multiple organ anomalies. ARID1B is the key gene behind 6q microdeletion syndrome.', 'Interstitial 6q25 microdeletion syndrome (ICS) is a rare autosomal dominant disorder characterized by loss-of-function mutations of the ARID1B gene and severe intrauterine and post-natal growth retardation', 'The critical region for the interstitial 6q microdeletion phenotype was mapped to 6q24-6q25, particularly the 6q25.3 region containing the genes ARID1B and ZDHHC14.', 'Interstitial 6q25 microdeletion syndrome (IL-6q25) is a rare autosomal dominant disorder caused by mutations in the ARID1B gene, which encodes a major regulator of heme oxygenase 1 (HMOX1), resulting in a loss of a ubiquitously expressed protein, gigaxonin.', 'Interstitial 6q25 microdeletion syndrome (IPS) is a rare autosomal dominant disorder characterized by loss-of-function mutations in the ARID1B gene, which encodes a major regulator of heme oxygenase 1 (HMOX1), and many other genes involved in heme catabolism.', 'Interstitial 6q25 microdeletion syndrome (ICS) is a rare autosomal recessive genetic disorder characterized by loss-of-function mutations in the ARID1B gene, which encodes a major regulator of heme oxygenase activity.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/26754677" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/26754677", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 65, "text": "Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene." }, { "beginSection": "abstract", "document...
11
BioASQ-training11b
null
null
6031287e1cb411341a00012d
factoid
Brensocatib was tested for treatment of which disease?
['bronchiectasis']
['Brensocatib was tested for bronchiectasis. Brensocatib in patients with bronchiectasis was associated with improvements in bronchiectasis clinical outcomes.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32897034" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32897034", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 67, "text": "Phase 2 Trial of the DPP-1 Inhibitor Brensocatib in Bronchiectasis." }, { "beginSection": "abstract", "docume...
11
BioASQ-training11b
null
null
601c42ad1cb411341a00001b
factoid
What is the function of the protein Cuf1?
['Cuf1 is a copper-sensing transcription factor.']
['Cuf1 is a copper-sensing transcription factor.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/11274192", "http://www.ncbi.nlm.nih.gov/pubmed/21489137", "http://www.ncbi.nlm.nih.gov/pubmed/18723604", "http://www.ncbi.nlm.nih.gov/pubmed/17384198", "http://www.ncbi.nlm.nih.gov/pubmed/12244050" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/21489137", "endSection": "abstract", "offsetInBeginSection": 106, "offsetInEndSection": 213, "text": " CUF1 was involved both in copper acquisition and in copper detoxification in response to copper variation." }...
11
BioASQ-training11b
null
null
60355c0f1cb411341a000156
factoid
How many groups of viruses exist in the Baltimore Classification?
['7', 'seven']
['There are seven "Baltimore classes" (BCs) that define the major features of virus reproduction.', 'seven "Baltimore classes" (BCs) that define the major features of virus reproduction', 'The Baltimore Classification system consists of seven classes (A, B, C, D, E, F, G, C and D) that are classified into seven different regions based on sequence similarity.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28588308", "http://www.ncbi.nlm.nih.gov/pubmed/32132243" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32132243", "endSection": "abstract", "offsetInBeginSection": 289, "offsetInEndSection": 374, "text": " seven \"Baltimore classes\" (BCs) that define the major features of virus reproduction" }, { "beginSect...
11
BioASQ-training11b
null
null
601f10b71cb411341a000072
factoid
What disease is associate with defects in both the KDM6A (lysine specific demethylase 6A) and KMT2D (lysine methyltransferase 2D)
['Kabuki syndrome', 'KS']
['Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]', 'Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31740281", "http://www.ncbi.nlm.nih.gov/pubmed/29073101", "http://www.ncbi.nlm.nih.gov/pubmed/31924266", "http://www.ncbi.nlm.nih.gov/pubmed/30509212", "http://www.ncbi.nlm.nih.gov/pubmed/24838796", "http://www.ncbi.nlm.nih.gov/pubmed/29725259", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31924266", "endSection": "abstract", "offsetInBeginSection": 678, "offsetInEndSection": 849, "text": " Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital ...
11
BioASQ-training11b
null
null
601ec2d61cb411341a000062
factoid
Which transcription factor regulates emergency granulopoiesis?
['c/EBPβ', 'c/EBPbeta']
['The transcription factor CCAAT/enhancer binding protein β (C/EBPβ) plays critical roles in the differentiation and proliferation of hematopoietic stem cells.', "The transcription factor CCAAT/enhancer binding protein β (C/EBPβ) plays critical roles in emergency granulopoiesis, but the precise developmental stages in which C/EBPalpha is required are unknown . 'Steady-state' granulopsis is absolutely dependent on the C/ EBPalpha transcription factor .", 'The transcription factor CCAAT/enhancer binding protein β (C/EBPβ) plays critical roles in the differentiation and proliferation of hematopoietic stem cells. It is a transcription factor required for emergency granulopoiesis.', 'Differentiation and proliferation of hematopoietic stem cells are regulated by C/EBPβ, a transcription factor required for emergency granulopoiesis. Granulopoiesis during emergency situations, such as infection, is dependent on C/EBPβ.', 'These data suggest a critical function for C/EBPbeta in emergency granulopoiesis, which demands both differentiation and proliferation of granulocyte precursors.', 'The transcription factor CCAAT/enhancer binding protein β (C/EBPβ) plays critical roles in the differentiation and proliferation of hematopoietic stem cells. There is no definitive role of the transcription factor in emergency granulopoiesis.', 'The transcription factor CCAAT/enhancer binding protein β (C/EBPβ) regulates the differentiation and proliferation of hematopoietic stem cells.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/20581311", "http://www.ncbi.nlm.nih.gov/pubmed/19796237", "http://www.ncbi.nlm.nih.gov/pubmed/23024276", "http://www.ncbi.nlm.nih.gov/pubmed/23382991", "http://www.ncbi.nlm.nih.gov/pubmed/25940801", "http://www.ncbi.nlm.nih.gov/pubmed/29973462", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/29382715", "endSection": "abstract", "offsetInBeginSection": 989, "offsetInEndSection": 1305, "text": "In this study, we observed that Stat3 and C/ebpβ activate FANCC transcription and contribute to DNA repair. Our...
11
BioASQ-training11b
null
null
5fdb43aea43ad3127800002b
factoid
When did eptinezumab get its first FDA approval?
['In February 2020']
['In February 2020, eptinezumab was approved in the USA for the preventive treatment of migraine in adults.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32266704" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32266704", "endSection": "abstract", "offsetInBeginSection": 415, "offsetInEndSection": 521, "text": " In February 2020, eptinezumab was approved in the USA for the preventive treatment of migraine in adults." },...
11
BioASQ-training11b
null
null
6026ef9d1cb411341a0000d5
factoid
Which database exists that contains regulatory sites for splicing in human basal ganglia?
['http://braineacv2.inf.um.es/']
['Braineacv2 has been identified as a database that contains regulatory sites for splicing in human basal ganglia.', 'Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. Disease-relevant regulatory loci were identified, finding that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through http://braineacv2.inf.um.es/.', 'Braineacv2 is a database that contains regulatory sites for splicing in human basal ganglia.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/32098967" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32098967", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 99, "text": "Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information." }, { "beginS...
11
BioASQ-training11b
null
null
6030fcb51cb411341a000127
factoid
What is a HapMap
['a haplotype map of the human genome', 'The "HapMap" project is now underway to characterize patterns of LD in the human genome', 'Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms']
['HapMap is a international effort for creating an annotated haplotype map of the world’s most commonhaplotype sequences.', 'HapMap provides linkage disequilibrium information on a sample of 3.7 million SNPs that can be used for tag SNP selection in whole-genome association studies.', 'A haplotype map (HapMap)is aimed at describing these variation patterns across the entire genome and has been recently developed by the International HapMap Consortium. HapMap characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed.', 'The "HapMap" project is now underway to characterize patterns of LD in the human genome.', 'The HapMap haplotype map project aims to systematically map all human haplotypes, chromosome by chromosome, in a gene-dependent manner through dedicated efforts from national and international teams.', 'The HapMap haplotype map project aims to systematically map all human haplotypes, chromosome by chromosome, in a gene-rich manner through dedicated efforts from national and international teams.', 'The International Haplotype Map Project (HapMap) is an international effort for creating an annotated haplotype map of the human genome using protein sequences and other genomic data.', "A HapMap is a map of the human genome. It's a 3.1 million human single nucleotide polymorphisms (SNPs) that can be genotyped and mapped."]
[ "http://www.ncbi.nlm.nih.gov/pubmed/16877472", "http://www.ncbi.nlm.nih.gov/pubmed/21210977", "http://www.ncbi.nlm.nih.gov/pubmed/16982009", "http://www.ncbi.nlm.nih.gov/pubmed/18453083", "http://www.ncbi.nlm.nih.gov/pubmed/19933162", "http://www.ncbi.nlm.nih.gov/pubmed/22844100", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/17943122", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 260, "text": "We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs)...
11
BioASQ-training11b
null
null
601db8111cb411341a00004b
factoid
What pathological condition is MK-1602 used for?
['acute treatment of migraine']
['MK-1602 has been assessed in clinical trials for the acute treatment of migraine.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/27269043", "http://www.ncbi.nlm.nih.gov/pubmed/28644160", "http://www.ncbi.nlm.nih.gov/pubmed/31758661", "http://www.ncbi.nlm.nih.gov/pubmed/29136283" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/28644160", "endSection": "abstract", "offsetInBeginSection": 500, "offsetInEndSection": 643, "text": "Meanwhile, 1 small-molecule CGRP receptor antagonist (ubrogepant, MK-1602) is currently in phase 3 studies for t...
11
BioASQ-training11b
null
null
6026d6891cb411341a0000cc
factoid
Which yeast genes encode for condensin?
['Smc2/4']
['Smc2-Smc4 forms the core of the Saccharomyces cerevisiae condensin, which promotes metaphase chromosome compaction . Both SMC2 and SMC4 are essential for chromosome transmission in anaphase . Smc 2-8 suppresses catenanes accumulation, mitotic arrest and growth defects induced by histone depletion at semi-permissive temperature .', 'Smc2/4 forms the core of the Saccharomyces cerevisiae condensin, which promotes metaphase chromosome compaction', 'Condensin Smc2-Smc4 Dimers Are Flexible and Dynamic. Here, we probe the topology of Smc2-Smc4 dimers of the S. cerevisiae condensin complex with high-speed atomic force microscopy (AFM) in liquid Interestingly, SAC activation is suppressed by the absence of Top2 and Smc2, an essential component of condensin.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/26904946", "http://www.ncbi.nlm.nih.gov/pubmed/16100111", "http://www.ncbi.nlm.nih.gov/pubmed/12783798", "http://www.ncbi.nlm.nih.gov/pubmed/10811823", "http://www.ncbi.nlm.nih.gov/pubmed/25300489", "http://www.ncbi.nlm.nih.gov/pubmed/12719426", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/26904946", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 52, "text": "Condensin Smc2-Smc4 Dimers Are Flexible and Dynamic." }, { "beginSection": "abstract", "document": "http://ww...
11
BioASQ-training11b
null
null
5fe31301a43ad31278000039
factoid
What is another name for the drug AMG334?
['Erenumab']
['AMG334 is also called erenumab.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28240610" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/28240610", "endSection": "abstract", "offsetInBeginSection": 19, "offsetInEndSection": 396, "text": "The results of phase 2 randomized controlled trials for the prevention of episodic and chronic migraine demonstra...
11
BioASQ-training11b
null
null
6026ed981cb411341a0000d2
factoid
Which gene is primarily associated with the Saethre-Chotzen syndrome?
['TWIST1']
['Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally . It is caused by cytogenetic deletions or mutations of the TWIST1 gene . Of the 37 patients with classic features of the syndrome, the overall detection rate for TWIST mutations was 68% . Increased risk for developmental delay is associated with TWIST deletions .', 'Saethre-Chotzen syndrome is an autosomalomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 . The majority of patients have mutations in TWIST gene, which codes for a basic helx-loix-loge transcription factor .', 'Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants within the coding region.', 'We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype. Mutations of the TWIST gene in the Saethre-Chotzen syndrome.', 'It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype.', 'Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome.', 'Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype.', 'It is caused by cytogenetic deletions or mutations of the TWIST1 gene.', 'Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype.', 'Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 . The majority of patients have mutations in TWIST gene on chromosome 7p21 . The most common cause of the syndrome is loss-of-function mutations in a genetic mutation in the TWIST 1 gene . The patient is a heterozygous carrier of the pathogenic variant c.415C>A .', 'Saethre-Chotzen syndrome (SCS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the TWIST1 gene (transcription factor Xa, also known as T-box-binding protein 1).', 'The Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 . The majority of patients with the syndrome have mutations in TWIST gene . In 55 patients with features of the syndrome, 11% detected to have deletions by real-time gene dosage analysis .', 'Mutations in the TWIST1 gene, encoding the syntaxin binding protein 1, have been described as the cause of the Saethre-Chotzen syndrome.', 'Saethre-Chotzen syndrome (SCS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the TWIST1 gene.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/25118508", "http://www.ncbi.nlm.nih.gov/pubmed/8988166", "http://www.ncbi.nlm.nih.gov/pubmed/8988167", "http://www.ncbi.nlm.nih.gov/pubmed/15923834", "http://www.ncbi.nlm.nih.gov/pubmed/10094188", "http://www.ncbi.nlm.nih.gov/pubmed/11314068", "http://www.ncbi.nlm.nih...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/22569119", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 163, "text": "Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytog...
11
BioASQ-training11b
null
null
5fe08b77a43ad31278000032
factoid
Which master regulator drives liver development?
['HNF4a', 'Hepatocyte nuclear factor 4α']
['Hepatocyte nuclear factor (HNF)4α regulates fetal liver development.', "The HNF4α plays a major role in liver development, but it's not the only factor. There's a lot of other factors that play a role, but that's the big one."]
[ "http://www.ncbi.nlm.nih.gov/pubmed/23607685", "http://www.ncbi.nlm.nih.gov/pubmed/20657840", "http://www.ncbi.nlm.nih.gov/pubmed/29234104", "http://www.ncbi.nlm.nih.gov/pubmed/29332143", "http://www.ncbi.nlm.nih.gov/pubmed/27709008", "http://www.ncbi.nlm.nih.gov/pubmed/18462375", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/23607685", "endSection": "abstract", "offsetInBeginSection": 5, "offsetInEndSection": 138, "text": "The molecular mechanisms by which hepatocyte nuclear factor (HNF)4α regulates fetal liver development have not bee...
11
BioASQ-training11b
null
null
5fdb2e74a43ad3127800000d
factoid
Which subcortical brain structure is influenced the most by common genetic variants?
['Putamen']
['The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. Five novel genetic variants influencing the volumes of the putamen and caudate nucleus were identified. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08\u2009×\u200910(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue.', 'Common genetic variants influence human subcortical brain structures. The strongest effects are found for the putamen and caudate nucleus, where a novel intergenic locus with replicative influence on volume and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohort.', 'Common genetic variants influence human subcortical brain structures. The strongest effects are found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945330; P = 1.08 × 10(-33); 0.52% variance explained. In caudate nucleus scientists have identified five novel genetic variants influenced the volumes of putamen and caudated nucleus.', 'The putamen is the most affected by common genetic variants. It is the subcortical brain structure responsible for learning, memory and motivation.', 'The putamen is the most influenced by common genetic variants. It is the subcortical brain structure responsible for learning, memory and motivation.', 'Common genetic variants influence human subcortical brain structures. The strongest effects are found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945280; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of theKTN1 gene in both brain and blood tissue. Variants affecting putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport.', 'The putamen is the most influenced by common genetic variants. It is the subcortical brain structure responsible for learning and memory consolidation.', 'Common genetic variants influence human subcortical brain structures. The strongest effects are found for the putamen and caudate nucleus, where a novel intergenic locus with replicable influence on volume and intracranial volume have been identified.', 'The putamen is the most affected by common genetic variants. It is the subcortical brain structure responsible for learning and memory consolidation.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/25607358" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/25607358", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 1489, "text": "The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regio...
11
BioASQ-training11b
null
null
6028183e1cb411341a0000f1
factoid
Givosiran is used for treatment of which disease?
['porphyria']
['Givosiran is approved for treatment of porphyria.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31792921", "http://www.ncbi.nlm.nih.gov/pubmed/32521132", "http://www.ncbi.nlm.nih.gov/pubmed/33043761", "http://www.ncbi.nlm.nih.gov/pubmed/32034693", "http://www.ncbi.nlm.nih.gov/pubmed/31994716", "http://www.ncbi.nlm.nih.gov/pubmed/30847674", "http://www.ncbi.nlm.n...
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/33043761", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 111, "text": "Cost savings with hemin versus givosiran for the treatment of patients with acute intermittent porphyria (AIP)." }, ...
11
BioASQ-training11b
null
null
601c4b231cb411341a000020
factoid
What is Exencephaly?
['a disorder where the brain is located outside of the skull', 'failure of the cranial neural folds to close which leads to degeneration of the exposed brain tissue']
['Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull', 'exencephaly, a failure of the cranial neural folds to close which leads to degeneration of the exposed brain tissue termed anencephaly. .', 'exencephaly, a failure of the cranial neural folds to close which leads to degeneration of the exposed brain tissue termed anencephaly.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/18078364", "http://www.ncbi.nlm.nih.gov/pubmed/15517958", "http://www.ncbi.nlm.nih.gov/pubmed/7651715", "http://www.ncbi.nlm.nih.gov/pubmed/2303880", "http://www.ncbi.nlm.nih.gov/pubmed/1746228", "http://www.ncbi.nlm.nih.gov/pubmed/3054653", "http://www.ncbi.nlm.nih.g...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/24902834", "endSection": "abstract", "offsetInBeginSection": 678, "offsetInEndSection": 814, "text": "exencephaly, a failure of the cranial neural folds to close which leads to degeneration of the exposed brain tis...
11
BioASQ-training11b
null
null
601f027f1cb411341a00006b
factoid
Inhaled Molgramostim can be used for treatment of which disease?
['Autoimmune Pulmonary Alveolar Proteinosis']
['Inhaled Molgramostim was shown to be effective for Autoimmune Pulmonary Alveolar Proteinosis.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/29719809", "http://www.ncbi.nlm.nih.gov/pubmed/32897035" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32897035", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 74, "text": "Inhaled Molgramostim Therapy in Autoimmune Pulmonary Alveolar Proteinosis." }, { "beginSection": "abstract", ...
11
BioASQ-training11b
null
null
601cb5be1cb411341a000025
factoid
What is a likely origin of intronless genes?
['retrotransposition']
['More than half of SEGs identified in most of the species have at least one ortholog multiple exon gene in the same genome, which provides insight to their possible origin by retrotransposition', 'There is strong support for the idea that retrotransposition followed by tandem duplications is the most probable event that can explain the expansion of intronless or single-exon genes (SEG) in eukaryotic organisms. More than half of SEGs identified in most of the species have at least one ortholog multiple exon gene in the same genome, which provides insight to their possible origin by retrotransposition.', 'The origin of intronless genes is most likely retrotransposition', 'Intronless genes (IGs) constitute approximately 3% of the human genome. Their origin is likely to be retrotransposition due to loss-of-function mutations or duplication.', 'Genes without introns are a characteristic feature of prokaryotes, but there are still a number of intronless genes in eukaryotes. Most of these genes may have originated from retrotransposition rather than lineage-specific expansions of repeat elements.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/21620332", "http://www.ncbi.nlm.nih.gov/pubmed/10843807", "http://www.ncbi.nlm.nih.gov/pubmed/24820954", "http://www.ncbi.nlm.nih.gov/pubmed/13677319", "http://www.ncbi.nlm.nih.gov/pubmed/26415210", "http://www.ncbi.nlm.nih.gov/pubmed/22732409", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/16469316", "endSection": "abstract", "offsetInBeginSection": 238, "offsetInEndSection": 340, "text": "These highly conserved intronless genes were found to be involved in essential housekeeping functions." }, {...
11
BioASQ-training11b
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null
5fdb4264a43ad31278000023
factoid
Which company developed ivosidenib?
['Agios Pharmaceuticals']
['Ivosidenib has been developed by Agios Pharmaceuticals.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31660152" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31660152", "endSection": "abstract", "offsetInBeginSection": 545, "offsetInEndSection": 836, "text": "Hence, enasidenib and ivosidenib, the IDH2 and IDH1 inhibitors developed by Agios Pharmaceuticals, have been app...
11
BioASQ-training11b
null
null
6028fc841cb411341a000103
factoid
How is the STING protein activated?
['By intracellular DNA']
['During DNA virus infections, detection of cytosolic DNA by the cGAS-STING pathway leads to activation of IFN-β.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31928996", "http://www.ncbi.nlm.nih.gov/pubmed/31820985", "http://www.ncbi.nlm.nih.gov/pubmed/31896590", "http://www.ncbi.nlm.nih.gov/pubmed/31980485", "http://www.ncbi.nlm.nih.gov/pubmed/31991682" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31820985", "endSection": "abstract", "offsetInBeginSection": 0, "offsetInEndSection": 341, "text": "Stimulator of interferon genes (STING) is an endoplasmic reticulum-localized adaptor protein (STING receptor) that...
11
BioASQ-training11b
null
null
60490c421cb411341a000166
factoid
What does "28" stand for in the Disease Activity Score DAS28?
['28 joints']
['It stands for the Disease Activity Score 28 Joint Index (DAS28). It’s basically a measure of how active a patient is in regards to how active they are in relation to the DAS28. The 28 joint DAS (28 joints) is a way to measure how active the patient is compared to other people with the same disease.', 'DAS28 is a subjective Disease Activity Score in Rheumatoid Arthritis patients that checks 28 individual joints.', ' In order to further dissect this issue, we numerically and graphically modeled 28-joint disease activity scale (DAS28), simplified disease activity index (SDAI), and clinical disease activity index (CDAI) by three-dimensional (3D) plotting. The 28-joint DAS (DAS28), clinical disease activity index (CDAI) and simplified disease activity index (SDAI) are indices frequently used to assess disease activity in RA patients.', 'It stands for the Disease Activity Score 28 Joint Index (DAS28). It’s a measure of how active a patient is in regards to how active they are in relation to the DAS28. The 28 joint DAS (28 joints) is the highest score.', 'In order to further dissect this issue, we numerically and graphically modeled 28-joint disease activity scale (DAS28), simplified disease activity index (SDAI), and clinical disease activity index (CDAI) by three-dimensional (3D) plotting.', 'It stands for the Disease Activity Score 28 Joint Index (DAS28). It’s basically a measure of how active a patient is in regards to how active they are in relation to the DAS28. The 28 joint DAS (28 joints) is a way to measure how active the patient is compared to other patients with the same disease.', 'It stands for the Disease Activity Score 28 Joint Index (DAS28). It’s a measure of how active a patient is in regards to how active they are in relation to the DAS28.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/25173347", "http://www.ncbi.nlm.nih.gov/pubmed/23378146", "http://www.ncbi.nlm.nih.gov/pubmed/28089983", "http://www.ncbi.nlm.nih.gov/pubmed/32427982", "http://www.ncbi.nlm.nih.gov/pubmed/25600850", "http://www.ncbi.nlm.nih.gov/pubmed/26449852", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/24599677", "endSection": "abstract", "offsetInBeginSection": 159, "offsetInEndSection": 400, "text": " In order to further dissect this issue, we numerically and graphically modeled 28-joint disease activity scale ...
11
BioASQ-training11b
null
null
5fe3130da43ad3127800003f
factoid
Which receptor is blocked by Finerenone?
['mineralocorticoid']
['Finerenone is a nonsteroidal mineralocorticoid receptor antagonist.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/28025025", "http://www.ncbi.nlm.nih.gov/pubmed/32088716", "http://www.ncbi.nlm.nih.gov/pubmed/28926607", "http://www.ncbi.nlm.nih.gov/pubmed/30171161", "http://www.ncbi.nlm.nih.gov/pubmed/30356804", "http://www.ncbi.nlm.nih.gov/pubmed/26203193", "http://www.ncbi.nlm.n...
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/32088716", "endSection": "abstract", "offsetInBeginSection": 242, "offsetInEndSection": 543, "text": "Finerenone (FIN), a novel, nonsteroidal, potent, and selective mineralocorticoid receptor antagonist, improves e...
11
BioASQ-training11b
null
null
601c3fc21cb411341a000019
factoid
What is the effect of carbamazepine on CYP3A4?
['Induces', 'inducer', 'induction']
['Carbamazepine is an inducer of CYP3A4.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31650711" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31650711", "endSection": "abstract", "offsetInBeginSection": 274, "offsetInEndSection": 379, "text": "Carbamazepine, a UGT and cytochrome P450 3A4 inducer, is a first-line treatment for trigeminal neuralgia." } ]
11
BioASQ-training11b
null
null
606ab57394d57fd87900004f
factoid
What protein is Otof gene encoding?
['The OTOF gene encodes otoferlin']
['The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs)', 'The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to impaired release of synaptic vesicles at the IHC synapse.', 'The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs).']
[ "http://www.ncbi.nlm.nih.gov/pubmed/31875531", "http://www.ncbi.nlm.nih.gov/pubmed/32265471", "http://www.ncbi.nlm.nih.gov/pubmed/30509897", "http://www.ncbi.nlm.nih.gov/pubmed/32476384", "http://www.ncbi.nlm.nih.gov/pubmed/32106631", "http://www.ncbi.nlm.nih.gov/pubmed/33256196" ]
[ { "beginSection": "abstract", "document": "http://www.ncbi.nlm.nih.gov/pubmed/31875531", "endSection": "abstract", "offsetInBeginSection": 12, "offsetInEndSection": 323, "text": "Hereditary hearing loss is characterized by a very high genetic heterogeneity. The OTOF (Locus: DFNB9), encoding ...
11
BioASQ-training11b
null
null
6080646c4e6a4cf630000004
factoid
Does the HercepTest use a polycloncal or monoclonal antibody?
['polyclonal']
['The HercepTest uses a polyclonal antibody.']
[ "http://www.ncbi.nlm.nih.gov/pubmed/22827758" ]
[ { "beginSection": "title", "document": "http://www.ncbi.nlm.nih.gov/pubmed/22827758", "endSection": "title", "offsetInBeginSection": 0, "offsetInEndSection": 160, "text": "Comparison of HER2 immunohistochemical results using a monoclonal antibody (SV2-61γ) and a polyclonal antibody (for Dako...
11
BioASQ-training11b
null
null
606c34c994d57fd879000077