id stringlengths 24 24 | contexts_ids listlengths 1 157 | split stringclasses 1
value | question stringlengths 13 215 | type stringclasses 4
values | answer stringlengths 2 3.15k | exact_answer stringlengths 1 3.15k | contexts listlengths 1 157 | concepts stringlengths 3 7.42k |
|---|---|---|---|---|---|---|---|---|
5a897601fcd1d6a10c000008 | [
12007552,
22516994,
24705033,
8235662,
23172751,
28123902,
11480850,
16761499,
28116652,
12945718,
10955328,
15468356,
16354890,
25861457,
27365721,
17477466,
19762400,
16681575,
10685800,
28243944,
7993706,
2195948,
16150398,
27795838
] | train | A SLEDAI score is associated with Systemic Lupus Erythematosus. What is a SLEDAI score? | summary | Disease activity of Systemic Lupus Erythematosis was evaluated according to the SLE Disease Activity Index (SLEDAI) score which score disease activity based on a number of parameters. | Disease activity of Systemic Lupus Erythematosis was evaluated according to the SLE Disease Activity Index (SLEDAI) score which score disease activity based on a number of parameters. | [
"Both the revised Systemic Lupus Activity Measure (SLAM-R) and the Systemic Lupus \nErythematosus Disease Activity Index (SLEDAI) are valid and reliable measures of \ndisease activity in systemic lupus erythematosus (SLE). However, more study of \ntheir responsiveness is needed. The purpose of this study was to com... | ['http://www.disease-ontology.org/api/metadata/DOID:8857', 'http://www.disease-ontology.org/api/metadata/DOID:9074', 'https://meshb.nlm.nih.gov/record/ui?ui=D008180'] |
5a96c886fcd1d6a10c00002a | [
24690977,
28319627
] | train | A bite from the Lone Star Tick Amblyomma americanum, can cause the victim to become allergic to red meat, yes or no? | yesno | Conditions such as Southern tick-associated rash illness and anaphylaxis to red meat following tick bites have been attributed to the lone star tick, Ambyomma ameriacanum. | yes | [
"Delayed hypersensitivity disorders and food allergies are often challenging for \nthe clinician and patient alike. A recent discovery of an IgE antibody specific \nto galactose-α-1,3-galactose, which is a carbohydrate abundantly expressed on \ncells and tissues of beef, pork, and lamb, adds one more tool to aid th... | ['https://meshb.nlm.nih.gov/record/ui?ui=D017282'] |
602346eb1cb411341a000090 | [
33139264,
34245216,
34522691,
34377156,
34051880,
34798793,
33442538,
33213161,
34189869,
33549983,
33663220,
34853653,
34771637,
32984090,
32349374,
34167423
] | train | A combination of which two drugs was tested in the IMbrave150 trial? | list | IMbrave150 trial tested a combination of atezolizumab and bevacizumab for advanced hepatocellular carcinoma. | ['atezolizumab', 'bevacizumab'] | [
"On May 29, 2020, the FDA approved atezolizumab for use in combination with \nbevacizumab, for the treatment of adult patients with unresectable locally \nadvanced or metastatic hepatocellular carcinoma (HCC) with no prior systemic \ntreatment. The approval was based on data from Study IMbrave150, which randomly \n... | nan |
515d7693298dcd4e5100000c | [
22954629,
12872232,
20641139,
12422360,
12915006
] | train | A common problem in proteomics is the contamination of samples with exogenous proteins (often from other species). These proteins can be found in specific databases. List some contaminants. | list | Some common contaminants in proteomics are proteases (used for the digestion of the proteins), keratins (usually from the skin), proteins originated from the serum of the culture media and antibodies if used in the experiment. | ['Proteases', 'Keratins', 'Bovine serum proteins', 'Antibodies'] | [
"Mass spectrometry is widely used in bioanalysis, including the fields of \nmetabolomics and proteomics, to simultaneously measure large numbers of \nmolecules in complex biological samples. Contaminants routinely occur within \nthese samples, for example, originating from the solvents or plasticware. \nIdentificat... | nan |
5312280ce3eabad02100000a | [
11037190,
21968521,
20635402,
8898827,
18463369,
15362573,
22436252,
22426657,
23966756,
9973290,
16723886,
9128751,
20644152,
23077562,
21596366,
21048783,
23713105,
10754001,
15340753,
18576213,
19335127,
17431895,
19918425,
24167642,
15675355,
15675354,
1817455... | train | Abnormalities in which chromosomes were linked to the Moyamoya disease? | list | chromosomes 3, 6, 8, 12, 15, 17, 21, X and Y were implicated in the Moyamoya disease. | ['3', '6', '8', '12', '15', '17', '21', 'X', 'Y'] | [
"Moyamoya disease is a specific chronic cerebrovascular occlusive disease first \nreported by Japanese surgeons in 1957. The disease is characterized by stenosis \nor occlusion of the terminal portions of the bilateral internal carotid arteries \nand abnormal vascular network in the vicinity of the arterial occlusi... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009072', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002875', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005694', 'http://www.disease-ontology.org/api/metadata/DOID:13099', 'http://www.disease-ontology.org/api/metadata/DOID:0080014'] |
5313058de3eabad02100000e | [
23096483,
21511940,
24156003,
8457417,
23969004,
16943469,
19547821,
19037900,
20624239,
19830065,
11154546,
18596536,
2533403,
19646556
] | train | Abnormality in which vertebral region is important in the Bertolotti's syndrome? | factoid | Lumbosacral vertebral region is implicated in the Bertolotti's syndrome. Lumbosacral transitional vertebra is an anatomical variation of the fifth lumbar vertebra in which an enlarged transverse process can form a joint or fusion with the sacrum or ilium. Patients often complain of intractable sciatica that arises from impingement of the nerve root extraforaminally by compression caused by the enlarged transverse process. | lumbosacral | [
"BACKGROUND AND INTRODUCTION: In 1991, a deceased human male was found frozen in \na glacier pool in the Italian Alps in north west Italy, and is now carefully \npreserved in the South Tyrol Museum of Archaeology, in Bolzano, Italy. The \nbodily tissues of the 5,300 year old male (colloquially referred to as the \n... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013131', 'http://www.disease-ontology.org/api/metadata/DOID:225', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577'] |
5a981e66fcd1d6a10c00002f | [
23519746,
26280340,
17137436,
28106792,
23145009,
16762931,
10682170,
18497723,
10863169,
26543426,
17125447,
19108808,
12137304,
15827427,
26871396,
11276389,
15940204,
12148078,
17469041
] | train | According to guidelines, insulin resistance is one risk factor in the diagnosis of metabolic syndrome, name 3 more risk factors. | list | Metabolic syndrome (MetS) is generally defined as a cluster of metabolically related cardiovascular risk factors which are often associated with the condition of insulin resistance, elevated blood pressure, and abdominal obesity. | ['obesity', 'hypertension', 'dyslipdemia'] | [
"Obesity and overweight are nowadays very prevalent worldwide. They are known to \nbe linked with an increased risk of developing cardiovascular comorbidities and \nmortality. Abdominal obesity is frequently associated with a collection of \nmetabolic disorders that include elevated blood pressure, characteristic l... | ['https://meshb.nlm.nih.gov/record/ui?ui=D024821', 'https://meshb.nlm.nih.gov/record/ui?ui=D007333'] |
61f5914e882a024a1000000d | [
27582220,
34554383,
33135381,
34366359,
34506904,
34827546,
34550687,
29067304,
29686315,
29181491,
34697913,
34585212,
34263875,
34324167,
34539340,
34234067,
34554982,
34535787,
34650610,
34741884,
33836798
] | train | Aducanumab can be used for treatment of which disease? | factoid | Aducanumab is approved for treatment of Alzheimer's disease. | Alzheimer's disease | [
"Alzheimer's disease (AD) is characterized by deposition of amyloid-β (Aβ) \nplaques and neurofibrillary tangles in the brain, accompanied by synaptic \ndysfunction and neurodegeneration. Antibody-based immunotherapy against Aβ to \ntrigger its clearance or mitigate its neurotoxicity has so far been \nunsuccessful.... | nan |
53189656b166e2b80600001c | [
9600226,
12536227,
19272424,
9759660,
10967182,
16691119,
11005264,
12722831,
15854770,
10867800,
22370907,
10822429,
11207422,
10787032
] | train | Against which protein is the antibody used for immonostaining of Lewy bodies raised? | factoid | alpha-Synuclein is a presynaptic protein, which was identified as a specific component of Lewy bodies (LB) and Lewy neurites. Therefore, immunostaining for detecting the presence of Lewy bodies is carried out using antibodies against alpha-synuclein. | alpha-Synuclein | [
"A mutation in the alpha-synuclein gene has recently been linked to some cases of \nfamilial Parkinson's disease (PD). We characterized the expression of this \npresynaptic protein in the midbrain, striatum, and temporal cortex of control, \nPD, and dementia with Lewy bodies (DLB) brain. Control brain showed puncta... | ['http://www.uniprot.org/uniprot/SYUA_SERCA', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000906', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010300', 'http://www.disease-ontology.org/api/metadata/DOID:12217', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051844', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020961', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016631', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003823'] |
515a9d86d24251bc050000a7 | [
18288611,
15822917,
16335978,
19327347,
21906361,
15952730,
18412540,
23300121
] | train | Albumin depletion is a common first step for proteomic analysis of CSF fluid. What is the advantage and disadvantage of this procedure? | summary | Depletion of the high abundant protein Albumin from CSF samples is improving the detection of lower abundant proteins but may also lead to the potential loss of non-target proteins. | Depletion of the high abundant protein Albumin from CSF samples is improving the detection of lower abundant proteins but may also lead to the potential loss of non-target proteins. | [
"Glycoproteins in cerebrospinal fluid (CSF) are altered in Alzheimer's Disease \n(AD) patients compared to control individuals. We have utilized albumin \ndepletion prior to 2D gel electrophoresis to enhance glycoprotein concentration \nfor image analysis as well as structural glycoprotein determination without \ng... | ['http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005441', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000418', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0033326'] |
56c1f00cef6e39474100003e | [
22113345,
20336066,
24157957,
22244809,
24016490,
22514701,
21114416,
21251281,
26093872,
24682069,
25407798,
19515415,
20837369
] | train | Aleglitazar is agonist of which receptor? | factoid | Aleglitazar is a balanced peroxisome proliferator-activated receptor-α/γ agonist. | peroxisome proliferator-activated receptor-α/γ | [
"Aleglitazar is a dual peroxisome proliferator-activated receptor (PPAR)-α/γ \nagonist in clinical development, designed to offer a balanced activation of \nPPAR-α and PPAR-γ. A phase 2 trial has demonstrated improvements in dyslipidemia \nand glycemic control and reduction of cardiovascular risk markers in patient... | nan |
5540b9800083d1bf0e000002 | [
3517024,
9115173,
9356261,
14747656,
21215336,
21527722,
11502188,
1634521,
10652315,
15522301,
14761982
] | train | Alpha-spectrin and beta-spectrin subunits form parallel or antiparallel heterodimers? | factoid | Alpha and beta spectrin subunits form antiparallel spectrin heterodimers by lateral association. | antiparallel | [
"Spectrin, the major component of the erythroid membrane skeleton, is a long, \nasymmetrical rodlike protein that interacts with several other proteins to form \na two-dimensional membrane skeleton. Progress in several laboratories over the \npast few years including substantial partial peptide and nucleotide seque... | ['http://www.biosemantics.org/jochem#4249968', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008091'] |
5c98ac7fecadf2e73f00002b | [
29398602,
30217516
] | train | Anaplasma phagocytophilum is an obligate gram-negative, intracellular bacterium, yes or no | yesno | Anaplasma phagocytophilum is an obligate gram-negative, intracellular bacterium and causes anaplasmosis | yes | [
"The genus Anaplasma belonging to the Anaplasmataceae family (order \nRickettsiales) comprises obligate intracellular Gram-negative bacteria of \nveterinary and public health importance. Six species and five types of strains \ngenetically related are currently assigned to the genus Anaplasma including \nAnaplasma m... | nan |
5880b073c872c95565000003 | [
26449414,
27575436,
27895055,
26686866,
25516695,
27082776,
26069913,
26627486,
27697443,
27789605,
20007090,
26872887,
25431993,
25494843,
27659071,
27913536,
27147456,
25387210,
26559317,
25816811,
26519420
] | train | Andexanet Alfa is an antidote of which clotting factor inhibitors? | factoid | Andexanet alfa is a specific reversal agent for Factor Xa inhibitors. | Factor Xa or Xa | [
"Although there is controversy about the absolute need for a reversal agent for \nthe new direct oral anticoagulants (DOACs), the absence of such an agent is a \nbarrier to more widespread use of these agents. For the management of major \nlife-threatening bleeding with the DOACs, most authorities recommend the use... | ['https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000925', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000931', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019774'] |
58e3d9ab3e8b6dc87c000002 | [
2564739,
1985457,
26713299,
2309781,
1714232
] | train | Angelman syndrome is associated with deletion of a part of Chromosome 15 but if the deletion occurs in the paternally inherited chromosome 15, what is the disease? | factoid | Prader-Willi syndrome (PWS) results from a deletion of the paternal genes in the region of chromosome 15q11-q13. | Prader-Willi syndrome | [
"Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a \ncytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic \nanomaly, they have very different clinical phenotypes. DNAs from 4 AS patients \nwere examined using 5 chromosome 15q11q13-specific cloned DNA segments. Wit... | ['https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002872', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025063', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011218', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002901', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017353'] |
5d387c20a1e1595105000010 | [
27869828
] | train | Approximately how many genes are contained in the X chromosome's non-pseudoautosomal region (non-PAR)? | factoid | The total number of genes contained in the X chromosome's non- pseudoautosomal region (PAR) is 783. | 7 | [
"There is a striking and unexplained male predominance across many cancer types. \nA subset of X-chromosome genes can escape X-inactivation, which would protect \nfemales from complete functional loss by a single mutation. To identify putative \n'escape from X-inactivation tumor-suppressor' (EXITS) genes, we examin... | nan |
534e364e288f4dae47000001 | [
19557188,
16640774,
18682829,
8290959,
17478517,
18449558
] | train | Approximately how many recombination hotspots have been found in the yeast genome? | factoid | In the fission yeast genome DSBs are located within 194 prominent peaks separated on average by 65-kbp intervals of DNA that are largely free of DSBs. | 2 | [
"Deleterious mutations inevitably emerge in any evolutionary process and are \nspeculated to decisively influence the structure of the genome. Meiosis, which \nis thought to play a major role in handling mutations on the population level, \nrecombines chromosomes via non-randomly distributed hot spots for meiotic \... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015003', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006312', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010844', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012441', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051598', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011995', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016678'] |
552440452c8b63434a00000b | [
15564032,
22407809,
16945536,
12805120,
19648653,
11257471,
11166164,
20012312,
22358459,
15495263
] | train | Are ACTA1 (alpha actin) and NEB (nebulin) genes related to nemaline myopathy? | yesno | Yes, most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. | yes | [
"We report muscle MRI findings of 10 patients from 8 families with nemaline \nmyopathy. Patients with involvement of the nebulin (NEB) gene showed a \nconsistent pattern of selective muscle involvement corresponding to clinical \nseverity. In mild cases, there was complete sparing of thigh muscles and \nselective i... | ['http://www.uniprot.org/uniprot/NEBU_HUMAN', 'http://www.disease-ontology.org/api/metadata/DOID:3191', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017696', 'http://www.uniprot.org/uniprot/ACTS_CYPCA', 'http://www.uniprot.org/uniprot/ACTS_ORYLA', 'http://www.uniprot.org/uniprot/ACTS_ATRMM', 'http://www.uniprot.org/uniprot/ACTS_CARAU', 'http://www.uniprot.org/uniprot/ACTS_OREMO'] |
55032179e9bde6963400002e | [
19666486
] | train | Are BBS mutations involved in syndromic Hirschsprung disease? | yesno | In 3 families with Bardet-Biedl syndrome (BBS) and Hirschsprung disease (HSCR), concomitant mutations in BBS genes and regulatory RET elements have been identified. Analysis of the data suggests that BBS mutations can potentiate HSCR predisposing RET alleles, which by themselves are insufficient to cause disease. | yes | [
"Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy \ncharacterized by incomplete innervation along a variable length of the gut. The \npivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR \nalso presents in various syndromes, including Shah-Waardenburg syndrome (WS), \nD... | ['http://www.disease-ontology.org/api/metadata/DOID:10487'] |
5512c91b6a8cde6b7200000b | [
23273605,
23903755,
18375819,
24073999,
23900694,
24202393,
24258972,
24258977,
24258979,
23890088,
24289205,
22614711,
23890105,
24325952,
23594689,
24265154,
24265155,
24265153,
24220097,
24291778,
24283590,
23477830,
23414474,
24259661,
24298448,
24309328,
2420... | train | Are BRAF mutations common in melanoma? | yesno | Melanoma is the most aggressive form of skin cancer. The treatment of patients with advanced melanoma is rapidly evolving due to an improved understanding of molecular drivers of this disease. Somatic mutations in BRAF are the most common genetic alteration found in these tumors. BRAF mutations occur in approximately 8% of all human cancers and approach 50% in melanoma and papillary carcinoma of thyroid. | yes | [
"The US Food and Drug Administration (FDA) approved vemurafenib to treat patients \nwith metastatic melanoma harboring the BRAF c.1799T>A (p.V600E) mutation. \nHowever, a subset of melanomas harbor non-p.V600E BRAF mutations, and these data \nare of potential importance regarding the efficacy of current targeted \n... | ['http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008545', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D048493', 'http://www.uniprot.org/uniprot/BRAF_CHICK', 'http://www.uniprot.org/uniprot/BRAF_COTJA', 'http://www.disease-ontology.org/api/metadata/DOID:1909'] |
533bf29cc45e133714000001 | [
9413216,
9815811,
7544777,
7585612,
7587629,
12747468,
12842543,
11751503,
8869105,
9224749,
9849582,
9742519,
10601048,
9949626,
9732216
] | train | Are CD44 variants (CD44v) associated with poor prognosis of metastasis? | yesno | Yes, several isoforms (obtained by by usage of ten variant exons in various combinations) have been causally related to metastasis. | yes | [
"Standard CD44 (CD44s) and variant isoforms (CD44v) are expressed on different \nmalignant cells and tissues. Their upregulation has been implicated, in the \nprogression and metastasis of malignomas. In this work we addressed the question \nof whether these molecules are also expressed on xenografted human breast ... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009362', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011379', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018960', 'http://www.uniprot.org/uniprot/CD44_BOVIN'] |
5e2e1017fbd6abf43b000020 | [
10761920,
7904067,
29677476,
25591463,
26301869,
10882415,
2573519,
28382035,
1533274
] | train | Are CD8+ (cytotoxic) T cells and CD4+ Helper T cells generated in the thyroid and express the T-cell receptor? | yesno | Through positive selection, double-positive cells in the thymus differentiate into CD4(+) or CD8(+) T single-positive cells that subsequently develop into different types of effective T cells, such as T-helper and cytotoxic T lymphocyte cells, These two cell types are derived from common precursors in the thymus. | no | [
"Signals elicited by binding of the T-cell antigen receptor and the CD4/CD8 \nco-receptor to major histocompatibility complex (MHC) molecules control the \ngeneration of CD4+ (helper) or CD8+ (cytotoxic) T cells from thymic precursors \nthat initially express both co-receptor proteins. These precursors have unique,... | nan |
56a375f8496b62f23f000002 | [
21465478,
23390377,
21811597,
16140943,
16140944,
17962299,
12191639,
24657531
] | train | Are CTCF and BORIS involved in genome regulation and cancer? | yesno | Yes. CTCF is ubiquitously expressed and plays diverse roles in gene regulation, imprinting, insulation, intra/interchromosomal interactions, nuclear compartmentalisation, and alternative splicing. CTCF has a single paralogue, the testes-specific CTCF-like gene (CTCFL)/BORIS. CTCF and BORIS can be deregulated in cancer. The tumour suppressor gene CTCF can be mutated or deleted in cancer, or CTCF DNA binding can be altered by epigenetic changes. BORIS is aberrantly expressed frequently in cancer, leading some to propose a pro-tumourigenic role for BORIS. However, BORIS can inhibit cell proliferation, and is mutated in cancer similarly to CTCF suggesting BORIS activation in cancer may be due to global genetic or epigenetic changes typical of malignant transformation. | yes | [
"CTCF is an evolutionary conserved and ubiquitously expressed protein that binds \nthousands of sites in the human genome. Ectopic expression of CTCF in various \nnormal and tumoral human cell lines inhibits cell division and clonogenicity, \nwith the consequence to consider CTCF a potential tumor-suppressor factor... | nan |
5e338cf5fbd6abf43b00005d | [
16506213,
20569256,
28230825,
29531473,
29787442,
26695891,
19956182,
23691737
] | train | Are Chernobyl survivors at increased risk for breast cancer? | yesno | Yes, Chernobyl survivors are at increased risk for breast cancer. | yes | [
"An increase in breast cancer incidence has been reported in areas of Belarus and \nUkraine contaminated by the Chernobyl accident and has become an issue of public \nconcern. The authors carried out an ecological epidemiological study to describe \nthe spatial and temporal trends in breast cancer incidence in the ... | nan |
5a6e18d8b750ff4455000038 | [
28417603,
28637293
] | train | Are Conserved Nonexonic Elements (CNEEs) important in phylogenomics research? | yesno | Yes. Conserved Nonexonic Elements (CNEEs) appear to be promising as phylogenomic markers, yielding phylogenetic resolution as high as for UCEs and introns but with fewer gaps, less ambiguity in alignments and with patterns of nucleotide substitution more consistent with the assumptions of commonly used methods of phylogenetic analysis. | yes | [
"The identification of conserved loci across genomes, along with advances in \ntarget capture methods and high-throughput sequencing, has helped spur a \nphylogenomics revolution by enabling researchers to gather large numbers of \nhomologous loci across clades of interest with minimal upfront investment in \nlocus... | nan |
5c51f44c07ef653866000004 | [
30137632
] | train | Are Copy Number Variants (CNVs) depleted in regions of low mappability? | yesno | No. Low-mappability regions are approximately 5 times more likely to harbor germline CNVs, in stark contrast to the nearly uniform distribution observed for somatic CNVs in 95 cancer genomes. | no | [
"Copy number variants (CNVs) are known to affect a large portion of the human \ngenome and have been implicated in many diseases. Although whole-genome \nsequencing (WGS) can help identify CNVs, most analytical methods suffer from \nlimited sensitivity and specificity, especially in regions of low mappability. \nTo... | nan |
5133b15e5274a5fb0700000b | [
16474211,
9990116,
3186440,
9632720,
1968658,
17591602,
15784181,
1505946,
15546139,
8128314,
3656447
] | train | Are CpG islands located close to housekeeping genes? | yesno | Our analysis indicates that the association of CGIs with housekeeping genes is not as strong as previously estimated. These regions represent about 1% of genomic DNA and are generally found in the promoter region of housekeeping genes. In housekeeping and many tissue-specific genes, the promoter is embedded in a so-called CpG island. Methylation-free CpG clusters, so-called HTF islands, are most often associated with the promoter regions of housekeeping genes, whereas genes expressed in a single-cell type are usually deficient in these sequences. All housekeeping and widely expressed genes have a CpG island covering the transcription start, whereas 40% of the genes with a tissue-specific or limited expression are associated with islands. It has been envisaged that CpG islands are often observed near the transcriptional start sites (TSS) of housekeeping genes. CpG islands, which are found almost exclusively at the 5'-end of housekeeping genes. CpG islands were associated with the 5' ends of all housekeeping genes and many tissue-specific genes, and with the 3' ends of some tissue-specific genes. | yes | [
"Abnormal development and fetal loss during postimplantation period are concerns \nfor production of nuclear transferred animals. Aberrant DNA methylation is one \nof the reasons for poor survival of cloned animals. In mammalian genome DNA, CpG \nislands are preferentially located at the start of transcription of h... | ['http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018899', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006796', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020043'] |
5c891d5075a4a5d219000011 | [
28471166
] | train | Are Crocus sativus compounds being considered against Alzheimer's disease? | yesno | Yes, it has been observed that Crocus sativus extracts and compounds have a positive effect against Alzheimer's disease. | yes | [
"Crocus sativus, commonly known as saffron or Kesar, is used in Ayurveda and \nother folk medicines for various purposes as an aphrodisiac, antispasmodic, and \nexpectorant. Previous evidence suggested that Crocus sativus is linked to \nimproving cognitive function in Alzheimer's disease (AD) patients. The aim of \... | nan |
5319a752b166e2b806000027 | [
16987878,
10984715,
17131053,
15743670,
15734684
] | train | Are DNA helicases involved in progeroid syndromes? | yesno | Yes, mutations in genes coding for DNA helicases were found to induce progeroid syndromes, such as Werner syndrome (WS) or Bloom syndrome (BS). | yes | [
"Progeroid syndromes (PSs) constitute a group of disorders characterized by \nclinical features mimicking physiological aging at an early age. In some of \nthese syndromes, biological hallmarks of aging are also present, whereas in \nothers, a link with physiological aging, if any, remains to be elucidated. These \... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004265', 'http://www.disease-ontology.org/api/metadata/DOID:225', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033202', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003057', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003678', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053484'] |
56ae69fb0a360a5e4500000d | [
22726460,
23524404
] | train | Are DNA methylation maps applicable to the diagnosis of non-small-cell lung carcinomas? | yesno | Yes. | yes | [
"BACKGROUND: Non-small cell lung carcinoma (NSCLC) is a complex malignancy that \nowing to its heterogeneity and poor prognosis poses many challenges to \ndiagnosis, prognosis and patient treatment. DNA methylation is an important \nmechanism of epigenetic regulation involved in normal development and cancer. It \n... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002289', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003933', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008745', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008168', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004247', 'http://www.disease-ontology.org/api/metadata/DOID:3908', 'http://amigo.geneontology.org/amigo/term/GO:0044030', 'http://amigo.geneontology.org/amigo/term/GO:0006306', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D055752', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019175', 'http://www.disease-ontology.org/api/metadata/DOID:5409', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018288'] |
56d1accb67f0cb3d66000001 | [
25618141
] | train | Are Drosophila ultraconserved elements candidate ncRNAs? | yesno | Yes. Highly constrained intergenic Drosophila ultraconserved elements are candidate ncRNAs. | yes | [
"Eukaryotes contain short (∼80-200 bp) regions that have few or no substitutions \namong species that represent hundreds of millions of years of evolutionary \ndivergence. These ultraconserved elements (UCEs) are candidates for containing \nessential functions, but their biological roles remain largely unknown. Her... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004330'] |
551910c5622b194345000007 | [
15834508,
12355085,
9094028,
21915282,
18693272,
16145050,
15294878,
20009762,
14669347,
10664228,
11484199,
12574515,
8852660,
11302967,
11471546,
14633923,
9035203,
11434563,
22132166,
10792313,
20633936,
10964697,
12631670,
16618617
] | train | Are EDNRB mutations involved in the development of Hirschsprung disease? | yesno | Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. Mutations in genes of the RET receptor tyrosine kinase and endothelin receptor B (EDNRB) signaling pathways have been shown to be associated in HSCR patients. Molecular genetic analyses have revealed that interactions between mutations in the genes encoding the RET receptor tyrosine kinase and the endothelin receptor type B (EDNRB) are central to the genesis of HSCR. | yes | [
"Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a \nrelatively common disorder characterized by the absence of ganglion cells in the \nnerve plexuses of the lower digestive tract, resulting in intestinal obstruction \nin neonates. Mutations in genes of the RET receptor tyrosine kinase and \... | ['http://www.disease-ontology.org/api/metadata/DOID:10487', 'http://www.uniprot.org/uniprot/EDNRB_MACFA', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006627', 'http://www.uniprot.org/uniprot/EDNRB_MOUSE'] |
621ea5a53a8413c653000055 | [
27494529,
24040964,
16380164,
27448715,
22802958,
24490654,
21040800,
24311719,
16113065,
29022765,
10627503,
17150260,
20950340,
1480136,
18812234,
16169934,
27166927,
16490839,
28937442,
21742052,
22009066,
15026029,
28319086,
28328948,
14636671
] | train | Are Epoxyeicosatrienoic acids (EETs) synthesized by cytochrome P450 epoxygenases from arachidonic acid? | yesno | Epoxyeicosatrienoic acids (EETs) are fatty acid signaling molecules synthesized by cytochrome P450 epoxygenases from arachidonic acid | yes | [
"Maintenance of a healthy pool of mitochondria is important for the function and \nsurvival of terminally differentiated cells such as cardiomyocytes. \nEpoxyeicosatrienoic acids (EETs) are epoxy lipids derived from metabolism of \narachidonic acid by cytochrome P450 epoxygenases. We have previously shown that \nEE... | nan |
62211b973a8413c65300006c | [
33213893,
26845351,
34459951,
28620243,
24030712,
26908447
] | train | Are G-quadruplexes(G4) possible drug targets for glioblastoma? | yesno | The 2H2-6M(4)-oxazole telomestatin derivative (6OTD) targets Glioma stem cells through G4 stabilization and promotion of DNA damage responses. Therefore, G4s are promising therapeutic targets for glioblastoma. | yes | [
"The G-quadruplex (G4) DNA, which has been developed as a potential anticancer \ntarget in drug screening and design, plays a crucial role in the oncogene \ntranscription and translation. Tanshinone IIA derivatives with a planar \nheterocycle structure may function as G4 stabilizers. We present an innovative \ncase... | nan |
6032187e1cb411341a000132 | [
31675472,
31776460,
31988111
] | train | Are Gram positive bacteria able to release extracellular vesicles? | yesno | Yes, Gram-negative and Gram-positive bacteria release a variety of membrane vesicles through different formation routes. | yes | [
"Filifactor alocis, a gram-positive, obligate anaerobic rod, is an emerging \nperiodontal pathogen that is frequently isolated from patients with \nperiodontitis, peri-implantitis, and apical periodontitis. Recent studies have \nshown that extracellular vesicles (EVs) from gram-negative periodontal \npathogens, so-... | nan |
5e64ed381af46fc130000015 | [
17543136,
12529926,
11001671,
17919656,
7875209,
26207883,
16305803,
26641849,
22117198,
25586702,
31729904,
10721489,
22351665,
9150551,
10924857
] | train | Are ICAMS, Intracellular Adhesion Molecules, part of the immunoglobulin superfamily? | yesno | Intercellular adhesion molecule 3 (ICAM-3, also known as CD50), a human leukocyte-restricted immunoglobulin super-family (IgSF) member, has previously been implicated in apoptotic cell clearance, | yes | [
"The integrins are a superfamily of cell adhesion receptors that bind to \nextracellular matrix ligands, cell-surface ligands, and soluble ligands. They \nare transmembrane alphabeta heterodimers and at least 18 alpha and eight beta \nsubunits are known in humans, generating 24 heterodimers. Members of this family ... | nan |
5c7836dad774d04240000002 | [
27102896,
19886822
] | train | Are Mesenchymal stem cells (MSC) multipotent cells? | yesno | Yes, Mesenchymal stem cells (MSC) are multipotent cells. | yes | [
"INTRODUCTION: Current experimental research has proven the efficacy of \ntransplantation bone marrow-derived mesenchymal stem cells (MSC) in the \ntreatment of myocardial infarction (MI). The one of the main purposes of \nresearch was to evaluate the comparative data of the MSC transplantation with \n(5-azacytidin... | nan |
5522fadb7b523f2123000001 | [
23033986,
20015880,
16707600,
21302811,
20008221,
23022380,
24252593,
24140475,
23730497,
25493453,
24068942,
24301524,
17575125,
18184405,
21463127,
21263446,
18056171,
20967796,
24401270
] | train | Are Notch mutations related to T-cell Acute Lymphoblastic Leukemia (T-ALL)? | yesno | Notch1 is a transmembrane receptor that is frequently mutated in human T-cell acute lymphoblastic leukemia (T-ALL). Activating mutations in NOTCH1, an essential regulator of T cell development, are frequently found in human T cell acute lymphoblastic leukemia (T-ALL). | yes | [
"BACKGROUND: In T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL), \nactivating mutations of NOTCH1 are observed in more than 50% of cases, whereas \nthe t(7;9)(q34;q34) involving NOTCH1 at 9q34 and TRB@ at 7q34 is an extremely \nrare but recurrent translocation.\nPATIENT: A 41-year-old male with a large med... | ['http://www.disease-ontology.org/api/metadata/DOID:5603'] |
571e3e2abb137a4b0c000008 | [
23886114,
18509604,
17973861,
24459177,
23750830,
22982575,
22232210,
25204339,
15535988,
24523126,
21395542,
23695864,
24151358
] | train | Are OATP1B1 and OATP1B3 associated with bilirubin transport? | yesno | Yes, OATP1B1 and OATP1B3 are involved in the transport of bilirubin. | yes | [
"1. Transient benign unconjugated hyperbilirubinemia has been observed \nclinically with several drugs including indinavir, cyclosporine, and rifamycin \nSV. Genome-wide association studies have shown significant association of \nOATP1B1 and UGT1A1 with elevations of unconjugated bilirubin, and OATP1B1 \ninhibitio... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001663', 'http://amigo.geneontology.org/amigo/term/GO:0015723', 'http://www.biosemantics.org/jochem#4274830'] |
6031002d1cb411341a000129 | [
32522499,
31187503
] | train | Are PDXK mutations linked to polyneuropathy? | yesno | Yes, PDXK mutations are linked to polyneuropathy. | yes | [
"Author information:\n(1)Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), \nInstitute of Genetics, and Center for Rare Diseases Cologne, University of \nCologne, Cologne, Germany.\n(2)Molecular and Clinical Sciences Institute, St. George's University of London, \nCranmer Terrace, London SW... | nan |
5709e947cf1c32585100001d | [
15703275,
18216854
] | train | Are Sidekick proteins members of the immunoglobulin superfamily? | yesno | Yes, sidekick are cell adhesion molecules of the immunoglobulin superfamily. | yes | [
"Sidekick-1, a cell adhesion molecule of the immunoglobulin superfamily, is \nup-regulated in glomerular podocytes in the collapsing glomerulopathy of \nHIV-associated nephropathy (HIVAN). Sidekick-1 and its ortholog sidekick-2 have \nalso been shown to function as neuronal targeting molecules, guiding developing \... | nan |
5e67bc121af46fc13000001c | [
24926928,
27593814
] | train | Are Spinal Intradural Primary Malignant Peripheral Nerve Sheath Tumors(MPNST) rare in neurofibromatosis patients? | yesno | Spinal intradural primary malignant peripheral nerve sheath tumors (MPNST) are rare in patients without neurofibromatosis. | no | [
"Primary malignant peripheral nerve sheath tumors (MPNSTs) are extremely rare in \npatients without a history of neurofibromatosis; only 18 cases have been \nreported in the English-language literature to this point. The authors report \ntheir experience with 1 new case of a primary MPNST. A 33-year-old woman \npre... | nan |
58ee1cafeda5a57672000014 | [
25409831,
26748519,
25367294,
26518482,
26431028,
26030525,
25959774
] | train | Are TAD boundaries in Drosophila depleted in highly-expressed genes? | yesno | Drosophila inter-TADs harbor active chromatin and constitutively transcribed (housekeeping) genes. | no | [
"Eukaryotic chromosomes replicate in a temporal order known as the \nreplication-timing program. In mammals, replication timing is cell-type-specific \nwith at least half the genome switching replication timing during development, \nprimarily in units of 400-800 kilobases ('replication domains'), whose positions \n... | nan |
602c2ade1cb411341a000124 | [
29594035
] | train | Are TAMs good anticancer therapeutic targets? | yesno | Therapeutic strategies to target TAMs to complement conventional therapies has yielded promising results. | yes | [
"Macrophages are a major component of the tumor microenvironment and orchestrate \nvarious aspects of immunity. Within tumors, macrophages can reversibly alter \ntheir endotype in response to environmental cues, including hypoxia and stimuli \nderived from other immune cells, as well as the extracellular matrix. De... | nan |
603285861cb411341a000141 | [
31462144,
31799626,
31712269,
33075123,
31865463
] | train | Are Toll-like receptors (TLRs) induced by microbes? | yesno | Yes,
Gram-negative bacteria and endogenous molecules coordinate to trigger inflammatory cascades via Toll-like receptor 4 to induce excessive expression of cytokines such as tumor necrosis factor-α and to activate NLRP3 inflammasome, a multiprotein complex that processes pro-interleukin-1β into its mature form. | yes | [
"Host-directed therapies are gaining considerable impetus because of the \nemergence of drug-resistant strains of pathogens due to antibiotic therapy. \nTherefore, there is an urgent need to exploit alternative and novel strategies \ndirected at host molecules to successfully restrict infections. The C-type \nlecti... | nan |
621ed10f3a8413c653000062 | [
16393984,
19816193,
18205702,
23635849,
21386770,
22749847,
17234458,
17368474,
23983771,
16020508,
24754976,
16809644,
24483245,
20843956,
18032693,
21655351,
27109178,
22899644,
34495808,
19005268,
23531479,
17407195,
17826781,
25113439,
17848162,
20384869,
1954... | train | Are Tregs CD4(+)CD25(+) regulatory T cells a positive regulator of the immune response? | yesno | CD4(+)CD25(+) regulatory T cells (Tregs) are negative regulators of the immune system that induce and maintain immune tolerance. | no | [
"CD4+ T cells naturally expressing CD25 molecules (natural T regulatory cells \n(Tregs)) have a role in maintaining self tolerance and in regulating responses \nto infectious agents, transplantation Ags, and tumor Ags. CD4+ Tregs induced \nfrom CD4+CD25- precursors (induced Tregs) also regulate immune responses in ... | nan |
58a71bb960087bc10a00002d | [
18957701,
25340765,
24349264,
22987666,
16998490,
21092253
] | train | Are Ultra-conserved elements (UCEs) enriched in segmental duplications? | yesno | ULEs are located in intergenic or intronic regions and are depleted from segmental duplications. In addition, here we show that these elements are preferentially found in pathogenic deletions (enrichment ratio 3.6 vs. 0.5 in duplications), and that this association is not related with a higher content of genes. | no | [
"Ultraconserved elements (UCEs) are sequences that are identical between \nreference genomes of distantly related species. As they are under negative \nselection and enriched near or in specific classes of genes, one explanation for \ntheir ultraconservation may be their involvement in important functions. Indeed, ... | nan |
56e5aeec0c19e5451d000002 | [
24980705,
25073090,
25220136,
25009261,
24574382,
25064589,
25010002,
25066614,
25350397
] | train | Are adenylyl cyclases always transmembrane proteins? | yesno | Adenylyl cyclases exists both as transmembrane and soluble proteins. | no | [
"Recently published findings indicate that a knockout (KO) of soluble adenylyl \ncyclase (sAC, also known as AC-10) gene expression in mice leads to defective \nglucoregulation that is characterized by reduced pancreatic insulin secretion \nand reduced intraperitoneal glucose tolerance. Summarized here are current ... | nan |
587e1e57fc7e8dd84f000003 | [
22673945,
22328099,
22318908
] | train | Are alterations in ultraconserved elements associated with colorectal adenocarcinoma? | yesno | yes | yes | [
"BACKGROUND: Ultraconserved elements (UCEs) are noncoding genomic sequences that \ncompletely identical among human, mouse, and rat species and harbor critical \nbiologic functions. The authors hypothesized that single nucleotide \npolymorphisms (SNPs) within UCEs are associated with clinical outcomes in \npatients... | ['http://www.disease-ontology.org/api/metadata/DOID:0050861', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050436', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015179'] |
587e276be96a600607000001 | [
18174240,
21331621
] | train | Are alterations in ultraconserved elements implicated in breast cancer? | yesno | Yes. SNPs in ultraconserved elements (UCEs) might be associated with cancer risk. | yes | [
"Ultraconserved elements (UCEs) are segments of >200 bp length showing absolute \nsequence identity between orthologous regions of human, rat and mouse genomes. \nThe selection factors acting on these UCEs are still unknown. Recent studies \nhave shown that UCEs function as long-range enhancers of flanking genes or... | ['https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000069584', 'http://www.disease-ontology.org/api/metadata/DOID:0060548', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061325', 'http://www.disease-ontology.org/api/metadata/DOID:1612', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001943', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000072656', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050436', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058922', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001940', 'http://www.disease-ontology.org/api/metadata/DOID:14521', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018567', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064726'] |
5c8857e975a4a5d219000009 | [
22965147
] | train | Are apoE mimetics being considered as a treatment against Alzheimer's disease? | yesno | Yes, apoE mimetics are being considered as a treatment against Alzheimer's disease, and they have been shown to protect AD mouse models against these AD-like features. | yes | [
"BACKGROUND: Amyloid-β (Aβ) peptides derive from the amyloid precursor protein \n(APP) and play a pivotal role in Alzheimer's disease (AD) pathogenesis. Our \nprevious work showed that the APP intracellular domain (AICD), which is produced \nsimultaneously with Aβ, also contributes to the development of AD-like fea... | nan |
5ca0fa96ecadf2e73f000048 | [
28406466,
20234994
] | train | Are artificial blood cells available? | yesno | No,
The critical point for the break through for artificial blood products did not come yet but could be ahead- | no | [
"We suggest a novel method that uses artificial blood cells (hemoglobin vesicles, \nHb-Vs) as photosensitizers in dye laser treatment (at 595-nm wavelength) for \nport-wine stains (i.e., capillary malformations presenting as red birthmarks) \nbased on the results of animal experiments. As compared with human red bl... | nan |
5e480909d14c9f295d000003 | [
29644336,
29855508
] | train | Are astronauts in higher risk for developing cancer? | yesno | No significant associations between space radiation dose and mortality were found using logistic regression with an internal reference group, adjusting for medical radiation. | no | [
"Despite years of research, understanding of the space radiation environment and \nthe risk it poses to long-duration astronauts remains limited. There is a \ndisparity between research results and observed empirical effects seen in human \nastronaut crews, likely due to the numerous factors that limit terrestrial ... | nan |
5e6f774ec6a8763d23000009 | [
18430081,
25700419,
31076745,
20526574,
31991218,
26231446,
21067677
] | train | Are bacteria in the genus Clostridium facultative anaerobes? | yesno | Clostridia belong to those bacteria which are considered as obligate anaerobe, e.g. oxygen is harmful or lethal to these bacteria. | no | [
"Clostridia belong to those bacteria which are considered as obligate anaerobe, \ne.g. oxygen is harmful or lethal to these bacteria. Nevertheless, it is known \nthat they can survive limited exposure to air, and often eliminate oxygen or \nreactive derivatives via NAD(P)H-dependent reduction. This system does \nap... | nan |
5e3c6e15b5b409ea53000023 | [
6445538,
20079875,
1540967,
29956296,
29043625,
23948232,
29787435,
9665145,
31652722,
10639091,
16650867,
7683090,
26089209
] | train | Are breaks in double stranded DNA associated with ionizing radiation? | yesno | Yes, double-strand breaks in double stranded DNA may be associated with ionizing radiation risk. | yes | [
"Gamma-ray irradiation introduces single and/or double strand breaks into the DNA \nmolecule of the cells. In the case of mammalian cells, these breaks are being \nrepaired in general during the first hr following exposure to ionizing \nradiation. The article reports on the results obtained from testing the ability... | nan |
5c9906dcecadf2e73f00002f | [
30372816,
29683473,
30053394
] | train | Are cardenolides inhibitors of Na+/K+ ATPase? | yesno | Yes,
Cardenolides have shown significant antitumor activity due to their ability to inhibit the Na+K+ATPase enzyme, and the expression of this enzyme is increased in tumor cells. | yes | [
"Cancer is an important public health problem, being one of the leading causes of \ndeath worldwide. Most antineoplastic agents cause severe toxic effects and some \ntypes of cancer do not respond or are resistant to the existing pharmacotherapy, \nnecessitating the research and development of new therapeutic strat... | nan |
5171833c8ed59a060a00000f | [
12121623,
23021223,
9584105,
11459824,
12151602,
11487702,
18488247,
12740729,
17660570,
20505370
] | train | Are chromomethylases present in animal genomes? | yesno | No. Multiple lines of experimental evidence suggest that chromomethylases (CMTs) have been hitherto identified in plant genomes(Arabidopsis, maize, tomato). CMTs maintain CpNpG (N = A, T, C, or G) methylation and they are unique to the plant kingdom. The lack of CMT homologs in animal genomes could be explained based on the fact that, in contrast to plants, animals maintain primarily CG methylation. Therefore, the presence of CMTs is not required in the animal genomes. | no | [
"Proper DNA methylation patterning requires the complementary processes of de \nnovo methylation (the initial methylation of unmethylated DNA sequences) and \nmaintenance methylation (the faithful replication of preexisting methylation). \nArabidopsis has two types of methyltransferases with demonstrated maintenanc... | ['http://www.uniprot.org/uniprot/CMT3_ARATH', 'http://www.uniprot.org/uniprot/CMT2_ARATH', 'http://www.uniprot.org/uniprot/CMT1_ARATH'] |
56b73c7a345adcac48000002 | [
26052092,
24339831
] | train | Are circRNAs associated with diseases and traits? | yesno | Yes. Circular RNAs (circRNAs) play a crucial role in fine tuning the level of miRNA mediated regulation of gene expression by sequestering the miRNAs. Their interaction with disease associated miRNAs indicates that circular RNAs are important for disease regulation. | yes | [
"Circular RNAs (circRNAs) are a novel type of RNA that, unlike linear RNAs, form \na covalently closed continuous loop and are highly represented in the eukaryotic \ntranscriptome. Recent studies have discovered thousands of endogenous circRNAs \nin mammalian cells. CircRNAs are largely generated from exonic or int... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category', 'http://www.disease-ontology.org/api/metadata/DOID:4', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194'] |
62211d6f3a8413c65300006f | [
29170496,
34453665,
33141028,
31217510,
30259366,
31160488,
26660425,
34269929,
29167634,
33650643,
27929395,
24865493,
34238421,
31556152,
31269210,
32480219,
34232572
] | train | Are circRNAs susceptible to degradation by RNase R? | yesno | Currently, an increasing body of evidence has demonstrated that 1) majority of circRNAs are evolutionarily conserved across species, stable, and resistant to RNase R degradation. | no | [
"Circular RNAs (circRNAs) are a class of animal non-coding RNAs and play an \nimpor-tant role in animal growth and development. However, the expression and \nfunction of circRNAs in the pituitary gland of sheep are unclear. Transcriptome \nprofiling of circRNAs in the pituitary gland of sheep may enable us to \nund... | nan |
6228b3553a8413c65300008b | [
30428483,
29803556,
33015046,
30444648,
30654635,
33074445,
31295021,
33133146,
32914551,
32844346,
30597308,
33761053,
31171902
] | train | Are circular RNAs implicated in diseases of the eye? | yesno | Circular RNA (circRNA) are associated with several eye diseases. | yes | [
"Long non-coding RNAs are 200 nucleotide long RNA molecules which lack or have \nlimited protein-coding potential. They can regulate protein formation through \nseveral different mechanisms. Similarly, circular RNAs are reported to play a \ncritical role in post-transcriptional gene regulation. Changes in the expre... | nan |
553d02c1f321868558000012 | [
19562753,
16630819,
21175683,
17387144,
16859531,
19073165,
18282512,
16533910,
19698106,
18279518
] | train | Are conserved noncoding elements associated with developmental genes? | yesno | Yes. Numerous studies suggest that conserved noncoding elements span developmental regulatory genes and define regulatory domains. | yes | [
"Fibroblast growth factors (Fgfs) encode small signaling proteins that help \nregulate embryo patterning. Fgfs fall into seven families, including FgfD. \nNonvertebrate chordates have a single FgfD gene; mammals have three (Fgf8, \nFgf17, and Fgf18); and teleosts have six (fgf8a, fgf8b, fgf17, fgf18a, fgf18b, \nand... | ['http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051094', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048589', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050437', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050793', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032502'] |
56b8a222156496395c000001 | [
19492354
] | train | Are conserved noncoding elements associated with the evolution of animal body plans? | yesno | Yes. Cis-regulatory inputs identified by CNEs arose during the "re-wiring" of regulatory interactions that occurred during early animal evolution. Consequently, different animal groups, with different core GRNs, contain alternative sets of CNEs. Due to the subsequent stability of animal body plans, these core regulatory sequences have been evolving in parallel under strong purifying selection in different animal groups. | yes | [
"The genomes of vertebrates, flies, and nematodes contain highly conserved \nnoncoding elements (CNEs). CNEs cluster around genes that regulate development, \nand where tested, they can act as transcriptional enhancers. Within an animal \ngroup CNEs are the most conserved sequences but between groups they are norma... | nan |
58e11b9b6fddd3e83e00000b | [
11202049,
15868463,
12859407
] | train | Are cutaneous porphyrias inherited with a recessive pattern? | yesno | No, cutaneous porphyrias are inherited in a dominant (not recessive) pattern. | no | [
"The acute porphyrias constitute a group of metabolic disorders engaging enzymes \nin the haem synthetic chain and generally following dominant inheritance \npatterns. Some gene carriers are vulnerable to a range of exogenous and \nendogenous factors, which may trigger neuropsychiatric symptoms. Early diagnosis \ni... | nan |
56f6a63d09dd18d46b00000c | [
24831536,
12358793,
18823995,
25967372
] | train | Are cyclophilins proteins that bind to prolines? | yesno | Cyclophilins are ubiquitously expressed proteins that bind to prolines. | yes | [
"The cyclophilins are widely expressed enzymes that catalyze the interconversion \nof the cis and trans peptide bonds of prolines. The immunosuppressive natural \nproducts cyclosporine A and sanglifehrin A inhibit the enzymatic activity of the \ncyclophilins. Chemical modification of both the cyclosporine and sangl... | nan |
56f6ab7009dd18d46b00000d | [
16928193,
19923714,
15869639,
21087465,
14568539,
25259854,
15735342,
15935056,
19403925,
17103061,
23849880,
23123451,
24887548
] | train | Are cyclophilins ubiquitously expressed? | yesno | Yes, cyps (cyclophilins) are ubiquitous proteins of the immunophilin superfamily. | yes | [
"Cyps (cyclophilins) are ubiquitous proteins of the immunophilin superfamily with \nproposed functions in protein folding, protein degradation, stress response and \nsignal transduction. Conserved cysteine residues further suggest a role in redox \nregulation. In order to get insight into the conformational change ... | nan |
5c643485e842deac67000015 | [
29562236
] | train | Are de novo mutations in regulatory elements responsible for neurodevelopmental disorders? | yesno | Yes. De novo mutations in highly evolutionarily conserved fetal brain-active elements are significantly and specifically enriched in neurodevelopmental disorders. It is estimated that, genome-wide, 1-3% of patients without a diagnostic coding variant carry pathogenic de novo mutations in fetal brain-active regulatory elements and that only 0.15% of all possible mutations within highly conserved fetal brain-active elements cause neurodevelopmental disorders with a dominant mechanism. | yes | [
"We previously estimated that 42% of patients with severe developmental disorders \ncarry pathogenic de novo mutations in coding sequences. The role of de novo \nmutations in regulatory elements affecting genes associated with developmental \ndisorders, or other genes, has been essentially unexplored. We identified... | nan |
52f77f752059c6d71c00002b | [
16258176,
12592385,
12865926,
12016139,
12427531,
12488587,
20298636,
17363343,
12191483,
23628323,
22798379,
23675572,
24104500,
17397816,
23541693,
11395777,
17636314,
21427292,
16555998,
23125219,
11178982,
24051048,
22665067,
15660524,
23620081,
21267443,
2140... | train | Are defects in recombination repair involved in carcinogenesis? | yesno | Yes. The breast cancer-associated BRCA1 and BRCA2 proteins are strongly implicated in recombination repair. | yes | [
"Mitomycin C (MMC) induces various types of DNA damages that cause significant \ncytotoxicity to cells. Accordingly, repair of MMC-induced damages involves \nmultiple repair pathways such as nucleotide excision repair, homologous \nrecombination repair and translesion bypass repair pathways. Nonetheless, repair \no... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004260', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005785', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000724', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059767', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059765', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006310', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036298', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063646', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011995', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006281', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000725', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051721'] |
587f56c392a5b8ad44000001 | [
25315429
] | train | Are deletions of chromosomal regulatory boundaries associated with congenital disease? | yesno | Yes. Enhancer adoption caused by deletions of regulatory boundaries may contribute to a substantial minority of copy-number variation phenotypes and should thus be taken into account in their medical interpretation. | yes | [
"BACKGROUND: Recent data from genome-wide chromosome conformation capture \nanalysis indicate that the human genome is divided into conserved megabase-sized \nself-interacting regions called topological domains. These topological domains \nform the regulatory backbone of the genome and are separated by regulatory \... | ['https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002872', 'http://www.disease-ontology.org/api/metadata/DOID:1086', 'http://www.disease-ontology.org/api/metadata/DOID:0080014'] |
54f7291630767eb92e000002 | [
21372004,
23261320,
23640490,
19488075,
22234702,
20881938,
22621747,
22981780,
22035349,
21764886,
22669047,
23448446,
24183004,
22773406,
20603647
] | train | Are epigenetic modifications implicated in cardiovascular development and disease? | yesno | Genetic and epigenetic factors are of great importance in cardiovascular biology and disease. Aberrant epigenetic mechanisms may lead to pathological consequences such as cardiovascular disease (CAD).Recent studies have greatly expanded our understanding of the regulation of cardiovascular development at the chromatin level, including the remodeling of chromatin and the modification of histones. Thus, understanding chromatin-level regulation will allow for a better appreciation of gene regulation as a whole and may set a fundamental basis for cardiovascular disease. | yes | [
"Epigenetic control mechanisms play a key role in the regulation of embryonic \ndevelopment and tissue homeostasis and modulate cardiovascular diseases. \nIncreasing evidence suggests that lineage commitment of stem/progenitor cells is \ntightly regulated by epigenetic mechanisms. These epigenetic control mechanism... | ['http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D057890', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002318'] |
6278ddfe56bf9aee6f000013 | [
31546754,
34155911,
22699538,
31879850,
29167533,
30180785,
22974002,
8347064,
30688316,
30404418,
16102988,
29742798,
31009620,
21800026,
21954141,
28084836,
24762862,
32390640,
32022138,
29174526
] | train | Are functional tests a good biomarker for Duchenne Muscular Dystrophy? | yesno | North Star Ambulatory Assessment is practical and reliable. allow assessment of high-functioning boys with Duchenne muscular dystrophy. | yes | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder \ncaused by out of frame mutations in the dystrophin gene. The hallmark symptoms \nof the condition include progressive degeneration of skeletal muscle, \ncardiomyopathy, and respiratory dysfunction. The most recent advances in \ntherapeut... | nan |
55425615ed966d112c000003 | [
24273314,
19221094,
12217498,
20600808,
14743977,
15942025,
25425232,
23538833,
11677621,
20417622,
17532183,
21350489,
15823418,
22735706
] | train | Are genes symmetrically distributed between leading and lagging DNA strand in bacteria? | yesno | In most bacteria, genes are preferentially encoded on the leading strand than on the lagging strand. This avoids the potentially detrimental head-on collisions that occur between the replication and transcription machineries when genes are encoded on the lagging strand. Head-on collisions are more deleterious than codirectional collisions, and may lead to replication fork arrest and genomic instability. Genes of some functional categories such as ribosome have higher preferences to be on the leading strands, while genes of other functional categories such as transcription factor have higher preferences on the lagging strands. Strand-biased gene distribution correlates with replication-associated purine asymmetry and the presence or absence of polC. Especially essential and highly transcribed genes and genes whose expression is important for fitness are more preferentially situated at the leading strand in bacteria. | no | [
"Genomic DNA is used as the template for both replication and transcription, \nwhose machineries may collide and result in mutagenesis, among other damages. \nBecause head-on collisions are more deleterious than codirectional collisions, \ngenes should be preferentially encoded on the leading strand to avoid head-o... | ['http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006273'] |
5c72768a7c78d6947100006c | [
24023392,
17383248
] | train | Are genes that escape X-chromosome inactivation related to mental impairment? | yesno | Yes. Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving. | yes | [
"In female mammals most X-linked genes are subject to X-inactivation. However, in \nhumans some X-linked genes escape silencing, these escapees being candidates for \nthe phenotypic aberrations seen in polyX karyotypes. These escape genes have \nbeen reported to be under stronger purifying selection than other X-li... | nan |
5e4946bf6d0a277941000005 | [
28874668
] | train | Are genomic regulatory blocks (GRBs) any different than TADs? | yesno | No, clusters of CNEs (GRBs) strongly coincide with topological organisation, predicting the boundaries of hundreds of topologically associating domains (TADs) in human and Drosophila. The set of TADs that are associated with high levels of noncoding conservation exhibit distinct properties compared to TADs devoid of extreme noncoding conservation. The close correspondence between extreme noncoding conservation and TADs suggests that these TADs are ancient, revealing a regulatory architecture conserved over hundreds of millions of years. | no | [
"Developmental genes in metazoan genomes are surrounded by dense clusters of \nconserved noncoding elements (CNEs). CNEs exhibit unexplained extreme levels of \nsequence conservation, with many acting as developmental long-range enhancers. \nClusters of CNEs define the span of regulatory inputs for many important \... | nan |
5e48e0e0f8b2df0d49000001 | [
30459840,
30430918,
30343431
] | train | Are gut microbiota profiles altered by irradiation? | yesno | Yes, Irradiation profoundly impacted gut microbiota profiles | yes | [
"The sterile insect technique (SIT) as an eco-friendly and reliable strategy has \nbeen used to control populations of insect pests of agricultural, veterinary and \nhuman health importance. Successful applications of SIT rely on the high-level \necological fitness of sterile males. A suitable and stable gut microb... | nan |
58e3d1743e8b6dc87c000001 | [
22787202,
3023620,
8649399,
8380890,
1337883,
21331901
] | train | Are hepadnaviral minichromosomes free of nucleosomes? | yesno | Nucleosomes along viral cccDNA in the minichromosomes are not random but sequence-specifically positioned. | no | [
"Hepadnaviral covalently closed circular DNA (cccDNA) exists as an episomal \nminichromosome in the nucleus of virus-infected hepatocytes, and serves as the \ntranscriptional template for the synthesis of viral mRNAs. To obtain insight on \nthe structure of hepadnaviral cccDNA minichromosomes, we utilized ducks inf... | nan |
530cf4c54a5037880c000002 | [
23114244,
23782410,
21563154,
23143331,
22518179,
21682982,
22964658,
24106935,
23955516,
23903677,
17989697,
23260098,
24225220,
22958022,
22173399,
23947111,
11331690,
19762171,
21276671
] | train | Are high-flow nasal cannulae effective for treatment of preterm infants? | yesno | Yes. The use of high-flow nasal cannulae is an increasingly popular alternative to nasal continuous positive airway pressure for noninvasive respiratory support of preterm infants after extubation. However, the use of high-flow nasal cannulae in preterm infants was shown to be associated with a higher rate of reintubation, increased exposure to oxygen and longer duration of respiratory support. High-flow nasal cannulae are also effective for treatment of apnea of prematurity. | yes | [
"BACKGROUND: Heated, humidified, high-flow nasal cannula oxygen therapy (HHHFNC) \nhas been used to improve ventilation in preterm infants. There are no data on \nairway pressures generated and efficacy in bronchiolitis.\nOBJECTIVE: The objective of this study was to determine nasopharyngeal (NP) \npressures genera... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D057785', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000281', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007234'] |
517404878ed59a060a000023 | [
15800932,
19509253,
19789319,
21041383,
20884621,
21452015,
19417021,
10893438,
22038994,
22161747,
18981013,
22279574,
15318170,
18506586,
19861438,
22811583
] | train | Are histone deacetylase (HDAC) inhibitors good candidates to control metastasis of solid tumors? | yesno | Yes, some HDAC inhibitors, such as Vorinostat, are on trial for human treatment after proving successful in animal models. Combination with other drugs is likely to be needed to control metastasis. | yes | [
"AN-7, a prodrug of butyric acid, induced histone hyperacetylation and \ndifferentiation and inhibited proliferation of human prostate 22Rv1 cancer cells \nin vitro and in vivo. In nude mice implanted with these cells, 50 mg/kg AN-7 \ngiven orally thrice a week led to inhibition of tumor growth and metastasis, \ntu... | ['http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056572'] |
5ac3699f0340b9f058000001 | [
28527813,
25635462,
24218635,
20023155,
21783031,
24097306
] | train | Are human enhancers or promoters evolving faster? | factoid | Our data further reveal that recently evolved enhancers can be associated with genes under positive selection, demonstrating the power of this approach for annotating regulatory adaptations in genomic sequences. We report that rapid evolution of enhancers is a universal feature of mammalian genomes. | enhancers | [
"A central goal of evolutionary biology is to understand the genetic origin of \nmorphological novelties-i.e. anatomical structures unique to a taxonomic group. \nElaboration of morphology during development depends on networks of regulatory \ngenes that activate patterned gene expression through transcriptional en... | nan |
56cae51f5795f9a73e000025 | [
20406178,
7551976,
23881705,
17852013,
7595631,
21829620,
25904790,
24995608,
25199710
] | train | Are immune cells affected in Amyotrophic Lateral Sclerosis? | yesno | In ALS T-cell deficiency increases neuronal loss, while boosting T cell levels reduces it. | yes | [
"The immune system has been found to be involved with positive and negative \neffects in the nervous system of amyotrophic lateral sclerosis (ALS) patients. \nIn general, T cells, B cells, NK cells, mast cells, macrophages, dendritic \ncells, microglia, antibodies, complement and cytokines participate in limiting \... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012598', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000690', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002477', 'http://www.disease-ontology.org/api/metadata/DOID:230'] |
5cf4dec0a49efeb44c00000c | [
22120008,
29517398,
28525751
] | train | Are lamina-associated domains (LADs) associated with transcriptional activation? | yesno | Regions of focal DNA hypermethylation and long-range hypomethylation in colorectal cancer coincide with nuclear lamina-associated domains. Such lamina-associated domains (LADs) are thought to help organize chromosomes inside the nucleus and have been associated with gene repression. | no | [
"Extensive changes in DNA methylation are common in cancer and may contribute to \noncogenesis through transcriptional silencing of tumor-suppressor genes. \nGenome-scale studies have yielded important insights into these changes but have \nfocused on CpG islands or gene promoters. We used whole-genome bisulfite \n... | nan |
51757bbb8ed59a060a00002e | [
22708672,
23028352,
20624288,
20587619,
21622663,
21112873,
20428234,
23454638,
22707570,
22955988,
23467124,
23463798,
22844254
] | train | Are long non coding RNAs as conserved in sequence as protein coding genes? | yesno | No. Most long non coding RNAs (lncRNAs) are under lower sequence constraints than protein-coding genes. | no | [
"BACKGROUND: The HOX gene clusters are thought to be highly conserved amongst \nmammals and other vertebrates, but the long non-coding RNAs have only been \nstudied in detail in human and mouse. The sequencing of the kangaroo genome \nprovides an opportunity to use comparative analyses to compare the HOX clusters \... | nan |
535d292a9a4572de6f000003 | [
22955974,
21622663,
22707570,
22955988,
24285305,
24106460
] | train | Are long non coding RNAs spliced? | yesno | Long non coding RNAs appear to be spliced through the same pathway as the mRNAs | yes | [
"Splicing remains an incompletely understood process. Recent findings suggest \nthat chromatin structure participates in its regulation. Here, we analyze the \nRNA from subcellular fractions obtained through RNA-seq in the cell line K562. \nWe show that in the human genome, splicing occurs predominantly during \ntr... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012326', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085'] |
5a6e4814b750ff445500004a | [
28985562
] | train | Are loop domains preserved upon cohesin loss? | yesno | No. Degradation of cohesin leads to elimination of loop domains. Neither compartment domains nor histone marks are affected. Loss of loop domains does not lead to widespread ectopic gene activation but does affect a significant minority of active genes. | no | [
"Author information:\n(1)The Center for Genome Architecture, Baylor College of Medicine, Houston, TX \n77030, USA; Department of Molecular and Human Genetics, Baylor College of \nMedicine, Houston, TX 77030, USA; Department of Structural Biology, Stanford \nUniversity School of Medicine, Stanford, CA 94305, USA.\n(... | nan |
5cebf83ea49efeb44c00000a | [
1958563,
18603021,
17108242,
25956531,
508371,
16549717,
22155196,
30394940
] | train | Are male or female persons more prone to autoimmunity? | factoid | Sex hormones have long been implicated in autoimmune diseases because women account for 80% of cases. | Female | [
"The immune response of males and females is not identical but instead has been \nshown to be dimorphic in its nature, with females generally demonstrating a \ngreater overall response than males. This dimorphism extends to both the humoral \nand cell mediated systems and appears to be mechanistically based on the ... | nan |
56d2ee61f22319765a000007 | [
24480744,
24768686,
25430002,
26458103,
25469751,
26121403,
25378335
] | train | Are messenger RNA molecules epigenetically methylated? | yesno | Yes, methyltranscriptome is an exciting new area that studies the mechanisms and functions of methylation in transcripts. | yes | [
"RNA methylation modifications have been found for decades of years, which occur \nat different RNA types of numerous species, and their distribution is \nspecies-specific. However, people rarely know their biological functions. There \nare several identified methylation modifications in eukaryotic messenger RNA \n... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012333', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080188', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032259', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008745', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036265', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001510'] |
53636e727d100faa0900000d | [
23229728,
24238656,
22710432,
23707524,
22715154,
19807731,
18677110,
23153241,
23658527
] | train | Are microRNA (miR) regulated through DNA methylation of their promoters? | yesno | Dysregulation of miRNA expression involved in cancer and Alzheimer's disease can be triggered by multiple mechanisms including aberrant DNA methylation of the miRNA gene promoter. Epigenetic dysregulation of tumor-suppressor miRNA genes by promoter DNA methylation has been implicated in human cancers, including multiple myeloma (MM). | yes | [
"MicroRNAs (miRNAs) are small non-coding RNAs that function as endogenous \nsilencers of target genes. Some tumor-suppressive miRNAs are known to be \nepigenetically silenced by promoter DNA methylation in cancer. In the present \nstudy, we aimed to identify miRNA genes that are silenced by DNA \nhypermethylation i... | ['http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012926', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D035683', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006306', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019175', 'http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044030', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004247'] |
58aa0a62396a458e50000007 | [
26227334,
25030760,
23973077,
26000474,
19700636,
25959773
] | train | Are microtubules marked by glutamylation? | yesno | Yes, glutamylation is the most prevalent tubulin posttranslational modification and marks stable microtubules. | yes | [
"Microtubules have important functions ranging from maintenance of cell \nmorphology to subcellular transport, cellular signaling, cell migration, and \nformation of cell polarity. At the organismal level, microtubules are crucial \nfor various biological processes, such as viral entry, inflammation, immunity, \nle... | nan |
534427f8aeec6fbd07000009 | [
22649506,
22893128,
19633228,
15946860,
23694700,
23935863,
22072984,
23015295,
23819581,
24147068,
23704925,
23799614,
23450047
] | train | Are most driver gene mutations synonymous or non-synonymous? | factoid | A common goal of tumor sequencing projects is finding genes whose mutations are selected for during tumor development. This is accomplished by choosing genes that have more non-synonymous mutations than expected from an estimated background mutation frequency. | non-synonymous | [
"BACKGROUND: Olfactory neuroblastoma (ONB) is a rare cancer of the sinonasal \ntract with little molecular characterization. We performed whole genome \nsequencing (WGS) on paired normal and tumor DNA from a patient with \nmetastatic-ONB to identify the somatic alterations that might be drivers of \ntumorigenesis a... | ['http://www.disease-ontology.org/api/metadata/DOID:162', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009369', 'http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154'] |
5a89537cfcd1d6a10c000002 | [
7606923,
6177004,
8896561,
9177778,
100785,
2767161,
3248380,
6538846
] | train | Are mouse chromosomes acrocentric? | yesno | yes | yes | [
"Physical gene mapping by in situ hybridization is a difficult task in an \nall-acrocentric mouse karyotype, because all of the chromosomes are \nmorphologically very similar. These difficulties can be overcome by using the \nmany different metacentric Robertsonian translocation (Rb) chromosomes derived \nfrom wild... | nan |
604906ed1cb411341a000163 | [
33300069,
32195770,
31729101,
31837357
] | train | Are mucin overexpression associated with disease? | yesno | Yes,
mucins are overexpressed in various malignancies and inflammations. | yes | [
"Hepatolithiasis is a common disease that represents a serious health threat to \nthe Chinese population. The pathological mechanism underlying hepatolithiasis is \nclosely related to bacterial infections of the intrahepatic bile duct, followed \nby chronic inflammation and the overexpression of mucin 5AC (MUC5AC).... | nan |
604903551cb411341a000162 | [
31907968,
31908009,
31904283
] | train | Are mucins glycosylated proteins? | yesno | Yes,
Many members of the mucin family are evolutionarily conserved and are often aberrantly expressed and glycosylated in various benign and malignant pathologies leading to tumor invasion, metastasis, and immune evasion. | yes | [
"Mucin is a glycoprotein that is the primary component of the mucus overlaying \nthe epithelial tissues. Because mucin functions as a first line of the innate \nimmune system, Pseudomonas aeruginosa appears to require interaction with mucin \nto establish infection in the host. However, the interactions between P. ... | nan |
58e11bf76fddd3e83e00000c | [
22366791,
22892647,
22300873,
23053135,
27632209,
24442578,
22228244,
27619540,
24064469,
23934648,
22673113,
26303227,
24521566
] | train | Are mutations in the C9orf72 gene associated with macular degeneration? | yesno | Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS. | no | [
"An expanded hexanucleotide repeat in the C9ORF72 gene has recently been \nidentified as a major cause of familial frontotemporal lobar degeneration and \nmotor neuron disease, including cases previously identified as linked to \nchromosome 9. Here we present a detailed retrospective clinical, neuroimaging \nand hi... | ['https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012162', 'http://www.disease-ontology.org/api/metadata/DOID:4448', 'http://www.disease-ontology.org/api/metadata/DOID:10871', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D057135', 'https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008268', 'http://www.disease-ontology.org/api/metadata/DOID:14245', 'http://www.disease-ontology.org/api/metadata/DOID:8466'] |
550748a3bde8548216000001 | [
21062273,
21277190,
20493457,
24170257,
22709267,
24315539,
21967765,
21762454,
22787616,
22612257,
23409955,
22787626,
21770924,
22596016,
18469812,
20876469,
24189369,
23531706,
20845763,
20887364,
21204804,
24095819,
20887371,
21753172,
21364700,
19557857,
2272... | train | Are mutations in the STXBP1 gene associated with epilepsy? | yesno | Yes,mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and in other early-onset epileptic encephalopathies. | yes | [
"Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. \nWe have recently identified that the de novo mutations of STXBP1 are important \ncauses for OS. Here we report a paternal somatic mosaicism of an STXBP1 \nmutation. The affected daughter had onset of spasms at 1 month of age, and \n... | ['http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004829', 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059645', 'http://www.disease-ontology.org/api/metadata/DOID:1826', 'http://www.uniprot.org/uniprot/STXB1_PONAB'] |
5a87efa961bb38fb2400000e | [
19475561,
17581973
] | train | Are mutations in the nf1 gene associated with memory? | yesno | Yes, distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation. | yes | [
"Neurofibromatosis 1 (NF1) is a common single-gene disorder that causes learning \nimpairments in patients. Neurofibromin encoded by the NF1 causal gene regulates \nRas/MAPK and cAMP signaling pathways. These signaling pathways play critical \nroles in controlling gene transcription during synaptic plasticity and m... | nan |
5a8866958cb19eca6b000003 | [
28643105,
28154140,
27725662,
27664583
] | train | Are neurexins localized at pre-synapses? | yesno | Yes, neurexins are localized at pre-synapses. | yes | [
"Perisomatic GABAergic synapses onto hippocampal pyramidal cells arise from two \npopulations of basket cells with different neurochemical and functional \nproperties. The presence of the dystrophin-glycoprotein complex in their \npostsynaptic density (PSD) distinguishes perisomatic synapses from GABAergic \nsynaps... | nan |
513596225274a5fb0700000d | [
20351051,
1587867,
21148149,
19463783
] | train | Are nucleosomes positioned at DNA replication origins? | yesno | No, origins of replication occur in nucleosome-free regions in both budding yeast and Drosophila. Open chromatin domains, characterized by nucleosome depletion, are preferentially permissive for replication. | no | [
"The origin recognition complex (ORC) specifies replication origin location. The \nSaccharomyces cerevisiae ORC recognizes the ARS (autonomously replicating \nsequence) consensus sequence (ACS), but only a subset of potential genomic sites \nare bound, suggesting other chromosomal features influence ORC binding. Us... | ['http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018741', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009707', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051738', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004261', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D042522', 'http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051716'] |
56e0797451531f7e3300000f | [
23340416,
19581573,
24965021,
25012388,
25678887,
24005292,
25451697,
24491965,
23637949,
23406911,
24590406,
22698957,
22890709,
23143518,
24573293,
25710834,
25303540,
23871610,
25108607
] | train | Are optogenetics tools used in the study and treatment of epilepsy? | yesno | Using optogenetics tools it is possible to begin to address some of the fundamental unanswered questions in epilepsy, to dissect epileptic neuronal circuits and to develop new intervention strategies. | yes | [
"Temporal lobe epilepsy is the most common type of epilepsy in adults, is often \nmedically refractory, and due to broad actions and long-time scales, current \nsystemic treatments have major negative side-effects. However, temporal lobe \nseizures tend to arise from discrete regions before overt clinical behaviour... | ['http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004827', 'http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062308'] |
5a679be1b750ff4455000005 | [
24669633
] | train | Are organisms in the genus Morexella associated with sepsis? | yesno | Moraxella species may cause neonatal sepsis | yes | [
"BACKGROUND: Neonatal sepsis is characterised by bacteraemia and clinical \nsymptoms caused by microorganisms and their toxic products. Gram negative \nbacteria are the commonest causes of neonatal Sepsis. The resistance to the \ncommonly used antibiotics is alarmingly high. The major reason for emerging \nresistan... | ['https://meshb.nlm.nih.gov/record/ui?ui=D000071074', 'https://meshb.nlm.nih.gov/record/ui?ui=D018805'] |
5a6e21b4b750ff445500003a | [
28667373,
20482863,
16860306,
27634932,
20621981,
18493055
] | train | Are paralog genes co-regulated? | yesno | Paralog genes arise from gene duplication events during evolution, which often lead to similar proteins that cooperate in common pathways and in protein complexes. Consequently, paralogs show correlation in gene expression. | yes | [
"MicroRNAs (miRNAs) are small non-coding RNA chains that can each interact with \nthe 3'-untranslated region of multiple target transcripts in various organisms, \nhumans included. MiRNAs tune entire biological pathways, spanning stress \nreactions, by regulating the stability and/or translation of their targets. \... | nan |
5a6f87c5b750ff4455000056 | [
24153350,
21842694,
17408137,
22208651,
17992593,
19745687,
1608349,
27336863,
28779180,
10414252,
529328,
17119030,
24159176,
22497865,
12064854,
23845207,
26998372,
12886135,
21805176,
21172862
] | train | Are patients with Sjogren syndrome at increased risk for lymphoma? | yesno | Yes, the heightened risk of non-Hodgkin lymphoma (NHL) development in primary Sjogren syndrome is well established. Five per cent of patients with primary Sjogren's syndrome develop malignant non-Hodgkin's lymphoma, usually of the mucosa-associated lymphoid tissue (MALT) and most frequently located in the major salivary glands. The incidence of lymphoma is higher in patients with Sjögren's syndrome than in the general population. | yes | [
"Sjogren's syndrome (SS) is a chronic autoimmune disorder with the highest risk \nfor lymphoma development among all autoimmune diseases. In order to evaluate \nwhether the presence of the recently described MYD88 L265P mutation in patients \nwith Waldenström's macroglobulinemia (WM) is contributory to SS-associate... | ['https://meshb.nlm.nih.gov/record/ui?ui=D012859', 'https://meshb.nlm.nih.gov/record/ui?ui=D008223', 'https://meshb.nlm.nih.gov/record/ui?ui=D012306', 'http://www.disease-ontology.org/api/metadata/DOID:12894'] |
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