id stringlengths 24 24 | type stringclasses 4
values | body stringlengths 13 215 | ideal_answer listlengths 1 12 | exact_answer listlengths 0 44 | snippets listlengths 0 121 | documents listlengths 1 157 | triples listlengths 0 537 | concepts listlengths 0 99 |
|---|---|---|---|---|---|---|---|---|
530cefaaad0bf1360c00000d | factoid | Which hormone abnormalities are common in Williams syndrome ? | [
"Thyroid hormone abnormalities are common in Williams syndrome. Oxytocin and vasopressin, cortisol, growth hormone and calcitonin were also implicated in the Williams syndrome."
] | [
"thyroid"
] | [
"WS and TD participants had similar profiles in a familiar setting, while participants with WS had elevated cortisol late in the day in the novel setting when social demands were higher. The cortisol awakening response in WS was associated with parent-reported levels of somatic complaints and social difficulties. R... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21209713",
"http://www.ncbi.nlm.nih.gov/pubmed/23734615",
"http://www.ncbi.nlm.nih.gov/pubmed/18204753",
"http://www.ncbi.nlm.nih.gov/pubmed/7789182",
"http://www.ncbi.nlm.nih.gov/pubmed/10378390",
"http://www.ncbi.nlm.nih.gov/pubmed/15751610",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018980",
"http://www.disease-ontology.org/api/metadata/DOID:1928",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006728"
] |
5159502dd24251bc0500009b | summary | The secreted frizzled-related protein 3 (sFPR3) is altered in human cancers.
Are its level found to increase or to decrease? | [
"SFRPs are down-regulated in several cancers and this is often correlated with poor prognosis, as has been shown for breast, colorectal, and a number of other cancers. (PMID: 21494614) We performed tissue microarray and found that the level of sFRP3 protein was high in normal kidney, low in primary renal cancer tis... | [] | [
"We performed tissue microarray and found that the level of sFRP3 protein was high in normal kidney, low in primary renal cancer tissues, and high in metastatic renal cancer tissues.",
"In conclusion, this is the first report to show that sFRP3 expression promotes cell growth, invasion, and inhibition of apoptosi... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23408665",
"http://www.ncbi.nlm.nih.gov/pubmed/20160027",
"http://www.ncbi.nlm.nih.gov/pubmed/21494614",
"http://www.ncbi.nlm.nih.gov/pubmed/17420170",
"http://www.ncbi.nlm.nih.gov/pubmed/17702698",
"http://www.ncbi.nlm.nih.gov/pubmed/11798016",
"http://www.ncbi.nlm.n... | [] | [] |
515a9d86d24251bc050000a7 | summary | Albumin depletion is a common first step for proteomic analysis of CSF fluid. What is the advantage and disadvantage of this procedure? | [
"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."
] | [] | [
"However, albumin binds peptides and proteins, which raises concerns as to how the removal of albumin could impact the outcome of the biomarker study while ignoring the possibility that this could be a biomarker subproteome itself.",
"This study demonstrates that reduction of sample complexity by albumin depletio... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18288611",
"http://www.ncbi.nlm.nih.gov/pubmed/16335978",
"http://www.ncbi.nlm.nih.gov/pubmed/15952730",
"http://www.ncbi.nlm.nih.gov/pubmed/18412540",
"http://www.ncbi.nlm.nih.gov/pubmed/19327347",
"http://www.ncbi.nlm.nih.gov/pubmed/15822917",
"http://www.ncbi.nlm.n... | [] | [
"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"
] |
533c3571c45e133714000005 | summary | How are lincRNA affecting the regulation of gene expression? | [
"lincRNA may function either as modulators of epigenetic mark deposition or as endogenous antagonists for microRNA binding. A lincRNA, linc-RoR, may function as a key competing endogenous RNA to link the network of miRNAs and core TFs, e.g., Oct4, Sox2, and Nanog. Mdig is involved in the regulation of H3K9me3 to in... | [] | [
"We detected a considerable number of cis expression quantitative trait loci (cis-eQTLs) and demonstrated that the genetic regulation of lincRNA expression is independent of the regulation of neighboring protein-coding genes.",
"We observe biases in lincRNA genomic locations and expression profiles that are consi... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23541921",
"http://www.ncbi.nlm.nih.gov/pubmed/22841487",
"http://www.ncbi.nlm.nih.gov/pubmed/22403033",
"http://www.ncbi.nlm.nih.gov/pubmed/24268656",
"http://www.ncbi.nlm.nih.gov/pubmed/23965803",
"http://www.ncbi.nlm.nih.gov/pubmed/23597480",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085"
] |
56f6d11c09dd18d46b00000f | factoid | Which is the protein encoded by the human gene GRIK? | [
"Glutamate Receptor Ionotropic Kainate"
] | [
"glutamate receptor ionotropic kainate"
] | [
"GRIK = glutamate receptor, ionotropic, kainate",
" To this end, the effects of chronic ethanol self-administration on glutamate receptor ionotropic AMPA (GRIA) subunit variant and kainate (GRIK)"
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/24449200",
"http://www.ncbi.nlm.nih.gov/pubmed/22291662"
] | [] | [] |
550c4011a103b78016000009 | factoid | Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies? | [
"Alpha-synuclein phosphorylated at serine 129 (S129) is highly elevated in Parkinson's disease patients where it mainly accumulates in the Lewy bodiesApproximately 90% of α-syn deposited in Lewy bodies is phosphorylated at serine 129 (Ser129). In contrast, only 4% or less of total α-syn is phosphorylated at this re... | [
"Serine 129"
] | [
"Alpha-synuclein phosphorylated at serine 129 (S129) is highly elevated in Parkinson's disease patients where it mainly accumulates in the Lewy bodies",
"Approximately 90% of α-syn deposited in Lewy bodies is phosphorylated at serine 129 (Ser129). In contrast, only 4% or less of total α-syn is phosphorylated at t... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22232559",
"http://www.ncbi.nlm.nih.gov/pubmed/15834418",
"http://www.ncbi.nlm.nih.gov/pubmed/18562315",
"http://www.ncbi.nlm.nih.gov/pubmed/11813001",
"http://www.ncbi.nlm.nih.gov/pubmed/23314528",
"http://www.ncbi.nlm.nih.gov/pubmed/23567651"
] | [] | [
"http://www.uniprot.org/uniprot/SYUA_SERCA",
"http://www.uniprot.org/uniprot/SYUA_MOUSE",
"http://www.uniprot.org/uniprot/SYUA_PANPA",
"http://www.uniprot.org/uniprot/SYUA_ERYPA",
"http://www.uniprot.org/uniprot/SYUA_GORGO",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016310",
"ht... |
514a59c2d24251bc0500005d | yesno | Is paroxetine effective for treatment of premenstrual dysphoric disorder? | [
"Yes, paroxetine is effective and FDA approved treatment of women with premenstrual dysphoric disorder. A number of well designed clinical trials have confirmed efficacy and safety of both continuous or intermittent regiments of paroxetine for treatment of premenstrual dysphoric disorder. A number of other antidep... | [
"yes"
] | [
"To evaluate the cost effectiveness of the four medications with a US FDA-approved indication for PMDD: fluoxetine, sertraline, paroxetine and drospirenone plus ethinyl estradiol (DRSP/EE).",
"All SSRIs (fluoxetine, paroxetine, sertraline, fluvoxamine, citalopram, and clomipramine) were effective in reducing prem... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16633152",
"http://www.ncbi.nlm.nih.gov/pubmed/18517289",
"http://www.ncbi.nlm.nih.gov/pubmed/12215058",
"http://www.ncbi.nlm.nih.gov/pubmed/9463792",
"http://www.ncbi.nlm.nih.gov/pubmed/8834412",
"http://www.ncbi.nlm.nih.gov/pubmed/20175591",
"http://www.ncbi.nlm.nih... | [
{
"p": "http://www4.wiwiss.fu-berlin.de/drugbank/resource/drugbank/pharmacology",
"s": "http://www4.wiwiss.fu-berlin.de/drugbank/resource/drugs/DB00715",
"o": "Paroxetine, an antidepressant drug of the selective serotonin reuptake inhibitor (SSRI) type, has no active metabolites and has the highest spec... | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017374",
"http://www.biosemantics.org/jochem#4272785",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011293"
] |
54f1e887c409818c32000004 | summary | What is known about thalidomide therapy and survival of glioblastoma patients? | [
"Findings regarding clinical value of thalidomide in terms of survival in patients with glioblastoma remain mixed. It has been shown that thalidomide can improve survival of recurrent glioblastoma patients. However, other authors have not confirmed these findings. Furthermore, thalidomide did not improve survival o... | [] | [
"In conclusion, thalidomide given simultaneously with radiation therapy was safe, but did not improve survival in patients with newly diagnosed glioblastoma.",
"The authors previously reported improved outcome in patients with recurrent glioblastoma treated with thalidomide and irinotecan compared with historical... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10673511",
"http://www.ncbi.nlm.nih.gov/pubmed/17465245",
"http://www.ncbi.nlm.nih.gov/pubmed/15817350",
"http://www.ncbi.nlm.nih.gov/pubmed/23086432",
"http://www.ncbi.nlm.nih.gov/pubmed/18403492",
"http://www.ncbi.nlm.nih.gov/pubmed/16053669",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4250023",
"http://www.disease-ontology.org/api/metadata/DOID:3068",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013792"
] |
53124e84e3eabad02100000c | yesno | Is endostatin a proangiogenic factor? | [
"No, endostatin is an antiangiogenic factor"
] | [
"no"
] | [
"endostatin (antiangiogenic factor",
"antiangiogenic factors include thrombospondin-1, angiostatin, and endostatin",
" human endostatin (rh-endostatin), a potential antiangiogenic agent, ",
"antiangiogenic PF4 and endostatin",
"Angiostatin and endostatin are endogenous inhibitors of angiogenesis with antica... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11301401",
"http://www.ncbi.nlm.nih.gov/pubmed/17191085",
"http://www.ncbi.nlm.nih.gov/pubmed/12516034",
"http://www.ncbi.nlm.nih.gov/pubmed/12525513",
"http://www.ncbi.nlm.nih.gov/pubmed/15023336",
"http://www.ncbi.nlm.nih.gov/pubmed/20926012",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D043169",
"http://www.uniprot.org/uniprot/COIA1_MOUSE",
"http://www.uniprot.org/uniprot/COFA1_HUMAN",
"http://www.uniprot.org/uniprot/COIA1_HUMAN",
"http://www.uniprot.org/uniprot/COFA1_MOUSE"
] |
54d670163706e8952800000f | list | List Genes associated with adolescent idiopathic scoliosis | [
"Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis.Overall, these findings demonstrate a novel role for kif6 in spinal development and identify a new candidate gene for human idiopathic scoliosis.",
"No genetic associations have yet been found to adolescent idiopathic ... | [
"no associations found yet"
] | [
"Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis.",
"Overall, these findings demonstrate a novel role for kif6 in spinal development and identify a new candidate gene for human idiopathic scoliosis.",
"HL1 is of interest, as it encodes an axon guidance protein rela... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17632395",
"http://www.ncbi.nlm.nih.gov/pubmed/11136708",
"http://www.ncbi.nlm.nih.gov/pubmed/11343318",
"http://www.ncbi.nlm.nih.gov/pubmed/12384783",
"http://www.ncbi.nlm.nih.gov/pubmed/20543391",
"http://www.ncbi.nlm.nih.gov/pubmed/23591653",
"http://www.ncbi.nlm.n... | [] | [] |
554763f0f35db75526000002 | yesno | Can botulism poisoning of a pregnant woman harm her fetus? | [
"Botulinum toxin, which causes botulism, is not expected to be present in systemic circulation following proper intramuscular or intradermal injection. Moreover, botulinum toxin has a high molecular weight, and does not appear to cross the placenta. Based on the study cases reported in the literature, botulism pois... | [
"no"
] | [
"Two botulism outbreaks were attributed to commercial ready-to-eat meat products and 3 to foods served in restaurants; several cases were attributed to non-Native home-prepared foods. Three affected pregnant women delivered healthy infants.",
"Botulinum toxin is not expected to be present in systemic circulation ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23735780",
"http://www.ncbi.nlm.nih.gov/pubmed/24235190"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:11976",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005333",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014930",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+E... |
5324cf139b2d7acc7e00001f | list | List the off-label use of SSRIs | [
"depression during childhood and adolescence\nPremature ejaculation (PE)\nerectile dysfunction\nInsomnia\npostprostatectomy established stress urinary incontinence.\nmood and anxiety disorders during pregnancy and breast feeding\nsymptoms of vasomotor dysregulation (hot flashes) associated with the menopausal trans... | [
"depression during childhood and adolescence",
"Premature ejaculation",
"PE",
"erectile dysfunction",
"Insomnia",
"postprostatectomy established stress urinary incontinence",
"SUI",
"mood and anxiety disorders during pregnancy and breast feeding",
"hot flashes",
"postmenopausal symptoms",
"bulim... | [
"The present analysis evaluates the prevalence and medication use in inpatients with depression during childhood and adolescence",
"Fluoxetine and mirtazapine were the most frequently prescribed substances. Sertraline, escitalopram, and citalopram were also prescribed. CONCLUSION: A reserved medical treatment can... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22473248",
"http://www.ncbi.nlm.nih.gov/pubmed/16310120",
"http://www.ncbi.nlm.nih.gov/pubmed/22136212",
"http://www.ncbi.nlm.nih.gov/pubmed/20235039",
"http://www.ncbi.nlm.nih.gov/pubmed/15062207",
"http://www.ncbi.nlm.nih.gov/pubmed/18330528",
"http://www.ncbi.nlm.n... | [
{
"p": "http://data.linkedct.org/resource/linkedct/description",
"s": "http://data.linkedct.org/resource/intervention/55601",
"o": "Use within normal clinical practice"
},
{
"p": "http://www.w3.org/2000/01/rdf-schema#label",
"s": "http://data.linkedct.org/resource/intervention/55601",
"o... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045506",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056687"
] |
52e204a998d0239505000012 | summary | Which is the definition of pyknons in DNA? | [
"Pyknons are non-random sequence patterns significantly repeated throughout non-coding genomic DNA, which have additional nonoverlapping instances in the untranslated and protein-coding regions. They are found more frequently in the 3' untranslated regions of genes than in other regions of the human genome."
] | [] | [
"Among the millions of discovered patterns, we found a subset of 127,998 patterns, termed pyknons, which have additional nonoverlapping instances in the untranslated and protein-coding regions of 30,675 transcripts from 20,059 human genes.",
"a nonrandom pattern of repeated elements, called pyknons, which are fou... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16636294",
"http://www.ncbi.nlm.nih.gov/pubmed/19833446",
"http://www.ncbi.nlm.nih.gov/pubmed/19452047",
"http://www.ncbi.nlm.nih.gov/pubmed/16751093",
"http://www.ncbi.nlm.nih.gov/pubmed/19229130",
"http://www.ncbi.nlm.nih.gov/pubmed/19052667"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001483",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004247",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009711"
] |
5709152ecf1c325851000014 | yesno | Does a linker histone exist in the yeast genome? | [
"Here, we present our results showing a connection between the linker histones, the higher-order chromatin structures, and the process of chronological lifespan of yeast cells. Characteristically, linker histone depleted chromatin generally exhibited longer chromatin loops than the wild-type. These results suggest ... | [
"yes"
] | [
"Hho1p is a bona fide linker histone",
"In Saccharomyces cerevisiae, HHO1 encodes a putative linker histone with very significant homology to histone H1",
"HHO1p may play a similar role to linker histones, but at restricted locations in the chromatin",
"The putative linker histone in Saccharomyces cerevisiae,... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22586276",
"http://www.ncbi.nlm.nih.gov/pubmed/9516420",
"http://www.ncbi.nlm.nih.gov/pubmed/19017647",
"http://www.ncbi.nlm.nih.gov/pubmed/15046982",
"http://www.ncbi.nlm.nih.gov/pubmed/11471242",
"http://www.ncbi.nlm.nih.gov/pubmed/18687885",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015003",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012441",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016678",
"http://www.biosemantics.org/joche... |
5162af0f298dcd4e51000045 | summary | What is the role of deadenylases in the cell? | [
"The 3'-poly(A) tail, found on mRNAs, is enzymatically shortened by a process referred to as \"deadenylation\" which is carried out by deadenylases. Deadenylases are magnesium dependent exoribonucleases that specifically catalyze the degradation of eukaryotic mRNA poly(A) tail in the 3'-->5' direction with the rele... | [] | [
"Deadenylation of eukaryotic mRNA is a mechanism critical for mRNA function by influencing mRNA turnover and efficiency of protein synthesis.",
"In short, PARN is a divalent metal-ion dependent poly(A)-specific, processive and cap-interacting 3'-5' exoribonuclease that efficiently degrades poly(A) tails of eukary... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15247430",
"http://www.ncbi.nlm.nih.gov/pubmed/19307292",
"http://www.ncbi.nlm.nih.gov/pubmed/23274303",
"http://www.ncbi.nlm.nih.gov/pubmed/18056425",
"http://www.ncbi.nlm.nih.gov/pubmed/21984185",
"http://www.ncbi.nlm.nih.gov/pubmed/18625844",
"http://www.ncbi.nlm.n... | [
{
"p": "http://purl.uniprot.org/core/fullName",
"s": "http://linkedlifedata.com/resource/#_443256444B36007",
"o": "mRNA deadenylase"
},
{
"p": "http://purl.uniprot.org/core/fullName",
"s": "http://linkedlifedata.com/resource/#_503331333834001E",
"o": "Cytoplasmic deadenylase"
}
] | [
"http://www.uniprot.org/uniprot/CNOT6_HUMAN"
] |
56bc9268ac7ad1001900001b | factoid | What molecule is targeted by brodalumab? | [
"Interleukin-17. Brodalumab is anti interleukin-17 monoclonal antibody."
] | [
"Interleukin-17"
] | [
"BACKGROUND: Early clinical studies suggested that the anti-interleukin-17 receptor A monoclonal antibody brodalumab has efficacy in the treatment of psoriasis.",
"METHODS: We reviewed the results of the phase II clinical trials for the anti-IL-17 agents secukinumab, ixekizumab and brodalumab in order to assess t... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25093016",
"http://www.ncbi.nlm.nih.gov/pubmed/26422722",
"http://www.ncbi.nlm.nih.gov/pubmed/24646743",
"http://www.ncbi.nlm.nih.gov/pubmed/24200404",
"http://www.ncbi.nlm.nih.gov/pubmed/24552447",
"http://www.ncbi.nlm.nih.gov/pubmed/24918373",
"http://www.ncbi.nlm.n... | [] | [] |
54ff5197e9bde69634000001 | factoid | How long, in kb (kilobases), is a "Long interspersed nuclear element"? | [
"The retrotransposon known as long interspersed nuclear element-1 (L1) is 6-7 kb long,"
] | [
"6-7 kb"
] | [
" A combination of molecular hybridization studies and long-range polymerase chain reaction was used to isolate a 6-kb full-length long interspersed nuclear element (LINE or L1)",
"LINE (7kb long interspersed nuclear element),",
"The retrotransposon known as long interspersed nuclear element-1 (L1) is 6 kb long... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11810275",
"http://www.ncbi.nlm.nih.gov/pubmed/21916613",
"http://www.ncbi.nlm.nih.gov/pubmed/21637438"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020084",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004602",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020071"
] |
5343fc1aaeec6fbd07000003 | factoid | Which is the gene mutated in type 1 neurofibromatosis? | [
"NF1 gene, encoding neurofibromin 1"
] | [
"NF1"
] | [
"Individuals with NF1 harbor 1 mutated NF1 allele",
"type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene",
"The NF1 gene, mutated in NF1, is also commonly mutated in sporadic glioblastoma multiforme (GBM)",
" type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16741618",
"http://www.ncbi.nlm.nih.gov/pubmed/10712197",
"http://www.ncbi.nlm.nih.gov/pubmed/9326316",
"http://www.ncbi.nlm.nih.gov/pubmed/17573495",
"http://www.ncbi.nlm.nih.gov/pubmed/8699317",
"http://www.ncbi.nlm.nih.gov/pubmed/9190537",
"http://www.ncbi.nlm.nih.... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025542",
"http://www.uniprot.org/uniprot/NF1_RAT",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016514",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D0... |
54cf705ff693c3b16b000014 | list | List receptors of the drug Cilengitide | [
"Cilengitide binds αvβ3 and αvβ5 integrins. It inhibits attachment and invasion of malignant cells. Thus, cilengitide is being tested for treatment of cancer patients."
] | [
"αvβ3 integrin",
"ανβ5 integrin",
"αvβ5",
"αvβ3"
] | [
"Cilengitide inhibits attachment and invasion of malignant pleural mesothelioma cells through antagonism of integrins αvβ3 and αvβ5.",
"Also, this dimer bound 3650-fold stronger and inhibited tumor cell migration and proliferation compared with cilengitide, an integrin-targeting peptidomimetic that performed poor... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22517378",
"http://www.ncbi.nlm.nih.gov/pubmed/25486381",
"http://www.ncbi.nlm.nih.gov/pubmed/23728220",
"http://www.ncbi.nlm.nih.gov/pubmed/12706360",
"http://www.ncbi.nlm.nih.gov/pubmed/17896915",
"http://www.ncbi.nlm.nih.gov/pubmed/23948974",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4242009"
] |
51763a278ed59a060a000030 | yesno | Can protein coding exons originate from ALU sequences? | [
"Yes. Intronic ALUs can evolve into exons by the activation of splice signals residing within the ALU sequence. While most ALU exons do not add or modify the coding capacity of the resulting transcript, examples have been identified of ALU exons becoming protein coding."
] | [
"yes"
] | [
"The Alu element has been a major source of new exons during primate evolution. Thousands of human genes contain spliced exons derived from Alu elements.",
"More than 25% of Alu exons analyzed by RNA-Seq have estimated transcript inclusion levels of at least 50% in the human cerebellum, indicating widespread esta... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15328599",
"http://www.ncbi.nlm.nih.gov/pubmed/21282640",
"http://www.ncbi.nlm.nih.gov/pubmed/21188497",
"http://www.ncbi.nlm.nih.gov/pubmed/20803091",
"http://www.ncbi.nlm.nih.gov/pubmed/18332115",
"http://www.ncbi.nlm.nih.gov/pubmed/20532223",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005091",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020087"
] |
5357a514f1005d6b58000003 | summary | How could U1 small nuclear RNA be used in therapeutics? | [
"Until now, two main types of therapeutic strategies have been developed using U1 small nuclear RNA (snRNA): 1) Production of a defective, but partially functional protein, with the help of exon skipping, through modulation of pre-mRNA splicing, and 2) Correction of pathogenic effects of splice donor site mutations... | [] | [
"Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts",
"Here, we show the selection of U1 snRNA-antisense constructs able to confer effective rescue of dystrophin synthesis in a Δ44 Duchenne genetic background, through skipping of e... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22362925",
"http://www.ncbi.nlm.nih.gov/pubmed/22968481",
"http://www.ncbi.nlm.nih.gov/pubmed/20869034",
"http://www.ncbi.nlm.nih.gov/pubmed/21326217",
"http://www.ncbi.nlm.nih.gov/pubmed/22454066",
"http://www.ncbi.nlm.nih.gov/pubmed/22454067",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012326",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000394",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017069",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+... |
5150b5c4d24251bc05000070 | summary | What is the influence of patent expiry on ACE inhibitor prescribing. | [
"Patent expiry has different effects on prescribing in different systems. It leads to decreased cost but no decreased refill compliance in countries like Sweden, Germany etc. In countries like Taiwan, where doctors profit directly from dispensing, patients are switched to ARBs which are more costly."
] | [] | [
"Generic switch after ramipril patent expiry is not associated with decreased pharmacy refill compliance: a retrospective study using the DAPI database.",
"The costs per DDD decreased for all three drugs and, as expected, these costs decrease more rapidly after patent expiry. Significant differences in the trend ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21738055",
"http://www.ncbi.nlm.nih.gov/pubmed/16309337",
"http://www.ncbi.nlm.nih.gov/pubmed/22521158"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000806"
] |
56c1d85cef6e394741000034 | yesno | Is there evidence that tomato juice lowers cholesterol levels? | [
"Yes, there is evidence to suggest that tomato juice (and other tomato products) can decrease cholesterol concentrations. It was shown that tomatoes inhibit cholesterol biosynthesis."
] | [
"yes"
] | [
"The hypocholesterolemic effect of tomato juice has been investigated in an intervention study with rats, along with the possible inhibition effect of bioactive tomato compounds binding to the HMGCR enzyme.",
"The molecular modelling showed that components of tomato can bind to the active site of the enzyme and c... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22098224",
"http://www.ncbi.nlm.nih.gov/pubmed/22223578",
"http://www.ncbi.nlm.nih.gov/pubmed/17617941",
"http://www.ncbi.nlm.nih.gov/pubmed/24392102",
"http://www.ncbi.nlm.nih.gov/pubmed/21755327"
] | [] | [
"http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4271425",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002784",
"http://www.biosemantics.org/jochem#4271425"
] |
56c44ce83aaba2a675000001 | yesno | Are there transposon-free regions in mammalian genomes? | [
"Yes. Despite the presence of over 3 million transposons separated on average by approximately 500 bp, the human and mouse genomes each contain almost 1000 transposon-free regions (TFRs) over 10 kb in length. The majority of human TFRs correlate with orthologous TFRs in the mouse, despite the fact that most transpo... | [
"yes"
] | [
"Transposon-free regions in mammalian genomes.",
"Despite the presence of over 3 million transposons separated on average by approximately 500 bp, the human and mouse genomes each contain almost 1000 transposon-free regions (TFRs) over 10 kb in length. The majority of human TFRs correlate with orthologous TFRs in... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18093339",
"http://www.ncbi.nlm.nih.gov/pubmed/16365385",
"http://www.ncbi.nlm.nih.gov/pubmed/21515576"
] | [] | [] |
56d2ee61f22319765a000007 | yesno | Are messenger RNA molecules epigenetically methylated? | [
"Yes, methyltranscriptome is an exciting new area that studies the mechanisms and functions of methylation in transcripts."
] | [
"yes"
] | [
"The most abundant mRNA post-transcriptional modification is N(6)-methyladenosine (m(6)A), which has broad roles in RNA biology.",
"N(6)-methyladenosine (m6A) is the most abundant modified base in eukaryotic mRNA and has been linked to diverse effects on mRNA fate.",
" Recently, methylation patterns have also b... | [
"http://www.ncbi.nlm.nih.gov/pubmed/26121403",
"http://www.ncbi.nlm.nih.gov/pubmed/24768686",
"http://www.ncbi.nlm.nih.gov/pubmed/25469751",
"http://www.ncbi.nlm.nih.gov/pubmed/24480744",
"http://www.ncbi.nlm.nih.gov/pubmed/25378335",
"http://www.ncbi.nlm.nih.gov/pubmed/26458103",
"http://www.ncbi.nlm.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+... |
5171a1498ed59a060a000012 | list | Which genes are more frequently affected by somatic mutations in Chronic Lymphocytic Leukemia | [
"TP53, ATM, NOTCH1, XPO1, MYD88, KLHL6, SF3B1, ZMYM3, MAPK1, FBXW7 and DDX3X"
] | [
"TP53",
"ATM",
"NOTCH1",
"XPO1",
"MYD88",
"KLHL6",
"SF3B1",
"ZMYM3",
"MAPK1",
"FBXW7",
"DDX3X"
] | [
"Among these genes, SF3B1, encoding a subunit of the spliceosomal U2 small nuclear ribonucleoprotein (snRNP), is somatically mutated in 9.7% of affected individuals.",
"Further analysis of these mutations in 363 patients with CLL identified four genes that are recurrently mutated: notch 1 (NOTCH1), exportin 1 (XP... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19367498",
"http://www.ncbi.nlm.nih.gov/pubmed/10803511",
"http://www.ncbi.nlm.nih.gov/pubmed/21642962",
"http://www.ncbi.nlm.nih.gov/pubmed/22158541",
"http://www.ncbi.nlm.nih.gov/pubmed/22150006",
"http://www.ncbi.nlm.nih.gov/pubmed/22675518"
] | [] | [] |
5321bc029b2d7acc7e00000c | summary | How effective is the dentritic cells treatment on cancer? | [
"Another approach to cancer therapy takes advantage of the normal role of the dendritic cell as an immune educator. Dendritic cells grab antigens from viruses, bacteria, or other organisms and wave them at T cells to recruit their help in an initial T cell immune response. This works well against foreign cells that... | [] | [
"BAFF system plays a key role in the development of autoimmunity, especially in systemic lupus erythematosus (SLE). This often leads to the assumption that BAFF is mostly a B cell factor with a specific role in autoimmunity. Focus on BAFF and autoimmunity, driven by pharmaceutical successes with the recent approval... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11022098",
"http://www.ncbi.nlm.nih.gov/pubmed/22042118",
"http://www.ncbi.nlm.nih.gov/pubmed/22230748",
"http://www.ncbi.nlm.nih.gov/pubmed/23369287",
"http://www.ncbi.nlm.nih.gov/pubmed/23684423",
"http://www.ncbi.nlm.nih.gov/pubmed/11570584",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016609",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D024221",
"http://www.nlm.nih.gov/cgi/mesh/2... |
516be1d6298dcd4e5100006a | factoid | What is the mode of inheritance of nemaline myopathy? | [
"Nemaline myopathy has a autosomal dominant or recessive mode of inheritance."
] | [
"autosomal dominant",
"autosomal recessive"
] | [
"The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance.",
"Autosomal recessive inheritance had been verified or appeared likely in all nebulin cases",
"Most cases were sporadic, but in addition there were instances of both autosomal do... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17846275",
"http://www.ncbi.nlm.nih.gov/pubmed/2213842",
"http://www.ncbi.nlm.nih.gov/pubmed/15336686"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020512",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017696",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020914",
"http://www.disease-ontology.org/a... |
56d860ad51531f7e33000002 | factoid | Which syndrome is NHE6 associated with? | [
"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early o... | [
"Christianson syndrome"
] | [
"A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)",
"Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Chri... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24630051",
"http://www.ncbi.nlm.nih.gov/pubmed/20949524",
"http://www.ncbi.nlm.nih.gov/pubmed/24035762",
"http://www.ncbi.nlm.nih.gov/pubmed/25044251"
] | [] | [] |
5150b45ad24251bc0500006f | summary | What is known about the reimbursement of Viagra | [
"Coverage of Viagra/Sildenafil for erectile dysfunction by health insurance plans is a contentious issue in developed countries. There are data of the limitations (6 per month) and co-payments (26.6%) by patients in the US.\nThe costs for Viagra/Sildenafil for PAH (pulmonary artery hypertension) appear to be cover... | [] | [
"Treatment with sildenafil was less costly and resulted in a greater gain in quality-adjusted life-years (QALYs) compared with other treatments. ",
"Based on this model, sildenafil is a cost-effective treatment for PAH with a low price and a net increase in QALYs.",
"Four treatment strategies, Viagra, Rivastigm... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22554140",
"http://www.ncbi.nlm.nih.gov/pubmed/10718038",
"http://www.ncbi.nlm.nih.gov/pubmed/23231890",
"http://www.ncbi.nlm.nih.gov/pubmed/12442853",
"http://www.ncbi.nlm.nih.gov/pubmed/12119585",
"http://www.ncbi.nlm.nih.gov/pubmed/14769012",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059034",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059033",
"http://www.biosemantics.org/jochem#4266960",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&ter... |
530b01a6970c65fa6b000008 | summary | Why is lock mass used in Orbitrap measurements? | [
"The lock mass is a compound of known mass and is used to compensate for drifts in instrument calibration."
] | [] | [
"Benzyldimethylphenylammonium was used as an internal lock mass.",
"To compensate for drifts in instrument calibration, a compound of known mass is often employed. This 'lock mass' provides an internal mass standard in every spectrum.",
"The use of mass calibrants (lock masses) to reduce the systematic error of... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21133379",
"http://www.ncbi.nlm.nih.gov/pubmed/22941912",
"http://www.ncbi.nlm.nih.gov/pubmed/21953191",
"http://www.ncbi.nlm.nih.gov/pubmed/16249172",
"http://www.ncbi.nlm.nih.gov/pubmed/16478717"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013058"
] |
52bf1cad03868f1b0600000a | factoid | Which virus is Cidofovir (Vistide) indicated for? | [
"Cidofovir is commonly used in the treatment of cytomegalovirus (CMV) infection and disease."
] | [
"cytomegalovirus"
] | [
"Currently, there are four antivirals available that are active against CMV: ganciclovir, valganciclovir, foscarnet, and cidofovir. ",
"At present, the antiviral drugs ganciclovir, foscarnet and cidofovir are commonly used in the treatment of CMV infection and disease.",
"Cidofovir can be considered as second-l... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19725597",
"http://www.ncbi.nlm.nih.gov/pubmed/9814660",
"http://www.ncbi.nlm.nih.gov/pubmed/11772283",
"http://www.ncbi.nlm.nih.gov/pubmed/11154213"
] | [
{
"p": "http://www.w3.org/2004/02/skos/core#note",
"s": "http://linkedlifedata.com/resource/umls/label/A10493715",
"o": "RXNORM"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A10493715",
"o": "Cidofovir Injectable Solution"... | [
"http://www.biosemantics.org/jochem#4236374",
"http://www.biosemantics.org/jochem#4261248"
] |
56f12ca92ac5ed145900000e | yesno | Have gnotobiotic animal models been used for the study of bowel disease? | [
"Yes, gnotobiotic animals (e.g. mice) have been used for the study of bowel disease (e.g. inflammatory bowel disease)."
] | [
"yes"
] | [
"Host gene expression in the colon of gnotobiotic interleukin-2-deficient mice colonized with commensal colitogenic or noncolitogenic bacterial strains: common patterns and bacteria strain specific signatures.",
" Specific pathogen-free (SPF), but not germfree (GF), interleukin (IL)-2-deficient (IL-2-/-) mice dev... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17145736",
"http://www.ncbi.nlm.nih.gov/pubmed/11984521",
"http://www.ncbi.nlm.nih.gov/pubmed/20004202",
"http://www.ncbi.nlm.nih.gov/pubmed/24500617",
"http://www.ncbi.nlm.nih.gov/pubmed/18841702",
"http://www.ncbi.nlm.nih.gov/pubmed/24959425",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:13419",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003424",
"http://www.disease-ontology.org/api/metadata/DOID:5143",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D043183",
"http:/... |
54d77bdf3706e89528000019 | list | List chromosomes that have been linked to Arnold Chiari syndrome in the literature. | [
"Chromosomes 1, 3, 5, 6, 8, 9, 12, 13, 15, 16, 18, 22, X and Y have been reported in association with Arnold Chiari syndrome in genetic linkage studies and individual case reports."
] | [
"1",
"3",
"5",
"6",
"8",
"9",
"12",
"13",
"15",
"16",
"18",
"22",
"X",
"Y"
] | [
"Consistent with a genetic hypothesis for CMI, much of the PF morphology was found to be heritable and multiple genomic regions were strongly implicated from OSA, including regions on Chromosomes 1 (LOD = 3.07, p = 3 × 10(-3) ) and 22 (LOD = 3.45, p = 6 × 10(-5) ) containing several candidates warranting further in... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15742475",
"http://www.ncbi.nlm.nih.gov/pubmed/2798270",
"http://www.ncbi.nlm.nih.gov/pubmed/17190989",
"http://www.ncbi.nlm.nih.gov/pubmed/23942271",
"http://www.ncbi.nlm.nih.gov/pubmed/24359474",
"http://www.ncbi.nlm.nih.gov/pubmed/324229",
"http://www.ncbi.nlm.nih.... | [] | [] |
552faababc4f83e828000005 | factoid | Which translocation is the hallmark of Ewing sarcoma? | [
"Tumours defined as Ewing sarcoma (ES) constitute a group of highly malignant neoplasms that most often affect children and young adults in the first 2 decades of life. The EWS/Fli-1 fusion gene, a product of the translocation t(11;22) (q24; 12), is detected in 95% of ES patients",
"The EWS/Fli-1 fusion gene, a p... | [
"translocation t(11;22) (q24;12)"
] | [
"Tumours defined as Ewing sarcoma (ES) constitute a group of highly malignant neoplasms that most often affect children and young adults in the first 2 decades of life. The EWS/Fli-1 fusion gene, a product of the translocation t(11;22) (q24; 12), is detected in 95% of ES patients",
"Ewing's sarcoma is a malignanc... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22266186",
"http://www.ncbi.nlm.nih.gov/pubmed/10030577",
"http://www.ncbi.nlm.nih.gov/pubmed/24124617",
"http://www.ncbi.nlm.nih.gov/pubmed/23145994",
"http://www.ncbi.nlm.nih.gov/pubmed/22742646",
"http://www.ncbi.nlm.nih.gov/pubmed/16864960",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:3368",
"http://www.disease-ontology.org/api/metadata/DOID:4980",
"http://www.disease-ontology.org/api/metadata/DOID:4232",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012512"
] |
5316d4fcb166e2b806000005 | yesno | Is invasion and metastasis one of the hallmarks of cancer? | [
"Yes, invasion and metastasis are one of the so-called hallmarks of cancer."
] | [
"yes"
] | [
"The pathogenesis of MM involves the accumulation of extensive cytogenetic changes, as well as cancer-related phenotypic alterations that facilitate tumor cell survival, invasion and metastasis. This review presents current knowledge regarding the biological characteristics of this disease that are linked to the so... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19662202"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009362",
"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=D009361",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exa... |
51680a49298dcd4e51000062 | yesno | Is it possible to detect survivin protein expression in normal human adult tissues? | [
"No. Survivin is an inhibitor of apoptosis that is undetectable in normal differentiated tissues of adult human.",
"Most normal adult tissues do not express survivin, thymus and testis are the only exceptions."
] | [
"no"
] | [
"Survivin (BIRC5) is one of the members of IAP-family apoptosis inhibitors. The BIRCS gene is expressed in most human embryonic tissues and malignant tumors but not in normal differentiated tissues of adult human.",
"Survivin is an inhibitor of apoptosis that is undetectable in most terminally differentiated norm... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22930255",
"http://www.ncbi.nlm.nih.gov/pubmed/14719083",
"http://www.ncbi.nlm.nih.gov/pubmed/18425079",
"http://www.ncbi.nlm.nih.gov/pubmed/16360419",
"http://www.ncbi.nlm.nih.gov/pubmed/10626797",
"http://www.ncbi.nlm.nih.gov/pubmed/15990723",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A10780389",
"o": "Survivin"
}
] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014024",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0048729",
"http://www.uniprot.org/uniprot/BIRC5_HUMAN",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0009888",
"http://www.nlm.nih.gov/... |
56be0a18ef6e394741000006 | list | List symptoms of Meigs' Syndrome. | [
"Meigs' syndrome is a benign ovarian tumor associated with ascites and pleural effusion."
] | [
"benign ovarian tumor",
"ascites",
"pleural effusion"
] | [
"Meigs' syndrome is a benign ovarian tumor associated with ascites and pleural effusion.",
"Although postmenopausal women with ovarian tumor, ascites, pleural effusion, and elevation of CA-125 levels probably have malignant ovarian tumors, Meigs' syndrome must be considered in the differential diagnosis.",
"BAC... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24962423",
"http://www.ncbi.nlm.nih.gov/pubmed/23328144",
"http://www.ncbi.nlm.nih.gov/pubmed/25469326",
"http://www.ncbi.nlm.nih.gov/pubmed/24490014",
"http://www.ncbi.nlm.nih.gov/pubmed/26046039"
] | [] | [] |
55390901bc4f83e828000014 | factoid | What is the effect of CRD-BP on the stability of c-myc mRNA? | [
"The c-myc mRNA coding region determinant-binding protein (CRD-BP) has high affinity for the coding region determinant (CRD) of c-myc mRNA. Such affinity is believed to protect c-myc CRD from endonucleolytic attack.",
"The coding region determinant-binding protein (CRD-BP) binds in vitro to c-myc mRNA and is thou... | [
"To protect c-myc CRD from endonucleolytic attack."
] | [
"CRD-BP shields c-myc and MDR-1 RNA from endonucleolytic attack by a mammalian endoribonuclease",
"The c-myc mRNA coding region determinant-binding protein (CRD-BP) has high affinity for the coding region determinant (CRD) of c-myc mRNA. Such affinity is believed to protect c-myc CRD from endonucleolytic attack",... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17264115",
"http://www.ncbi.nlm.nih.gov/pubmed/16778892",
"http://www.ncbi.nlm.nih.gov/pubmed/11745432",
"http://www.ncbi.nlm.nih.gov/pubmed/10692488",
"http://www.ncbi.nlm.nih.gov/pubmed/12024010",
"http://www.ncbi.nlm.nih.gov/pubmed/10850408",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043488",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070937",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070934",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048255"
] |
56c341acfedd0b786b000001 | factoid | What is the molecular function of psoralen photobinding on DNA? | [
"The interaction of two water-soluble furocoumarins, 8-(omega-diethyl aminopropyloxy)psoralen hydrochloride (I) and its 5-isomer (II), with DNA has been investigated by spectroscopic, equilibrium dialysis, hydrodynamic and chiroptical techniques. Both compounds intercalate into the polynucleotide double helix."
] | [
"It intercalates into the double helix."
] | [
"The interaction of two water-soluble furocoumarins, 8-(omega-diethyl aminopropyloxy)psoralen hydrochloride (I) and its 5-isomer (II), with DNA has been investigated by spectroscopic, equilibrium dialysis, hydrodynamic and chiroptical techniques. Both compounds intercalate into the polynucleotide double helix.",
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/1432387",
"http://www.ncbi.nlm.nih.gov/pubmed/23416947",
"http://www.ncbi.nlm.nih.gov/pubmed/10075890",
"http://www.ncbi.nlm.nih.gov/pubmed/1821628",
"http://www.ncbi.nlm.nih.gov/pubmed/20685815",
"http://www.ncbi.nlm.nih.gov/pubmed/3273186",
"http://www.ncbi.nlm.nih.... | [] | [
"http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4272414",
"http://www.biosemantics.org/jochem#4272414",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004247"
] |
54cf48acf693c3b16b00000b | yesno | Is progesterone effective for treatment of patients with traumatic brain injury based on clinical trial data? | [
"No. Progesterone has been associated with robust positive effects in animal models of traumatic brain injury (TBI) and with clinical benefits in two phase 2 randomized, controlled trials. However, a recent large clinical trial showed no clinical benefit of progesterone in patients with severe TBI. These data stand... | [
"no"
] | [
"BACKGROUND: Progesterone has been associated with robust positive effects in animal models of traumatic brain injury (TBI) and with clinical benefits in two phase 2 randomized, controlled trials. ",
"The proportion of patients with a favorable outcome on the Glasgow Outcome Scale (good recovery or moderate disab... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17327733",
"http://www.ncbi.nlm.nih.gov/pubmed/19318112",
"http://www.ncbi.nlm.nih.gov/pubmed/23326789",
"http://www.ncbi.nlm.nih.gov/pubmed/17418038",
"http://www.ncbi.nlm.nih.gov/pubmed/18447940",
"http://www.ncbi.nlm.nih.gov/pubmed/19401954",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4271493"
] |
5545e926d355485447000002 | yesno | Is there a role for the cylindromatosis tumor suppressor (CYLD) in lung cancer? | [
"To explore a correlation between CYLD expression and responsiveness to TRAIL in lung cancer cell lines, we established lung cancer cell lines that stably express CYLD. Our data provided the first evidence that increased expression of CYLD directly blocks TRAIL-induced NF - B activation, and consequently increases ... | [
"yes"
] | [
"Over-expressing CYLD augments antitumor activity of TRAIL by inhibiting the NF-κB survival signaling in lung cancer cells",
"increased expression of CYLD directly blocks TRAIL-induced NF-κB activation, and consequently increases TRAIL-induced apoptosis in lung cancer cells. CYLD may act as a therapeutic target o... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19412431",
"http://www.ncbi.nlm.nih.gov/pubmed/22017589"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008175",
"http://www.disease-ontology.org/api/metadata/DOID:1324"
] |
5311b99ae3eabad021000004 | list | Which medical diagnostic tests are used to test kidney function? | [
"Most common tests used in diagnosing normal kidney function include blood tests such as serum creatinine levels, glomerular filtration rate (GFR) and blood urea nitrogen (BUN) levels, also medical imaging tests like ultrasound and CT Scan. Additionally kidney biopsy is used in more direct but invasive approach. La... | [
"Blood Tests",
"Imaging Tests",
"Kidney Biopsy",
"Urine Tests",
"estimated GFR (eGFR)",
"Decreased tryptophan (TRP)"
] | [
"kidney dysfunction and decreased glomerular filtration rate (GFR) are diagnosed by the evaluation of changes in the serum creatinine (SCr) and blood urea nitrogen (BUN) concentrations. ",
"Renal biomarkers, especially those present in urine, may be useful for the study of both acute and chronic nephropathies.",
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23526674",
"http://www.ncbi.nlm.nih.gov/pubmed/22797727",
"http://www.ncbi.nlm.nih.gov/pubmed/2510609",
"http://www.ncbi.nlm.nih.gov/pubmed/23097569",
"http://www.ncbi.nlm.nih.gov/pubmed/20978142",
"http://www.ncbi.nlm.nih.gov/pubmed/22257305",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.biosemantics.org/jochem#4273958",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046449",
"http://www.uniprot.org/uniprot/CRNA_PSEPU",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003093",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO... |
53189656b166e2b80600001c | factoid | Against which protein is the antibody used for immonostaining of Lewy bodies raised? | [
"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"
] | [
"α-Synuclein is the major protein associated with Lewy body dementia, Parkinson's disease and multiple system atrophy.",
"With the aim to develop antibodies showing high specificity and sensitivity for disease-associated α-synuclein, synthetic peptides containing different amino acid sequences were used for immun... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11005264",
"http://www.ncbi.nlm.nih.gov/pubmed/10867800",
"http://www.ncbi.nlm.nih.gov/pubmed/15854770",
"http://www.ncbi.nlm.nih.gov/pubmed/11207422",
"http://www.ncbi.nlm.nih.gov/pubmed/19272424",
"http://www.ncbi.nlm.nih.gov/pubmed/22370907",
"http://www.ncbi.nlm.n... | [] | [
"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.... |
5131fa145274a5fb07000009 | list | Which are the main causes of fetal echogenic bowel? | [
"Fetal echogenic bowel is mainly associated to feto-maternal, intramniotic bleeding but in several cases it is linked to cystic fibrosis, cytomegalovirus (CMV), herpes simplex virus and other viral infections and fetal aneuploidy.",
"Fetal echogenic bowel (FEB) is a soft marker found on second trimester sonograph... | [
"Itramniotic bleeding",
"CMV infection",
"Cystic Fibrosis (CF)",
"Fetal aneuploidy"
] | [
"In group 2 and 3, two anomalies, anorectal malformation and cystic fibrosis, were detected postnatally",
"Six had chromosomal/genetic abnormalities, two had congenital cytomegalovirus, none had cystic fibrosis",
"Primary bowel pathology is rare following the finding of FEB",
"Maternal serology for cytomegalo... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20932506",
"http://www.ncbi.nlm.nih.gov/pubmed/22378220",
"http://www.ncbi.nlm.nih.gov/pubmed/21606744",
"http://www.ncbi.nlm.nih.gov/pubmed/9664617",
"http://www.ncbi.nlm.nih.gov/pubmed/10364670",
"http://www.ncbi.nlm.nih.gov/pubmed/22990134",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058535",
"http://www.disease-ontology.org/api/metadata/DOID:9779"
] |
5171393e8ed59a060a000005 | summary | How does trimetazidine affect intracellular kinase signaling in the heart? | [
"Trimetazidine activates AMPK in diabetic myocardium. Trimetazidine when administered before reperfusion results in activation of p38 mitogen-activated protein kinase and Akt signaling. Trimetazidine when administered during reperfusion does not affect p38MAPK and JNK activation."
] | [] | [
"The data suggest that trimetazidine significantly improves cardiac function in db/db mice by attenuating lipotoxicity and improving the oxidation status of the heart. Activation of AMPK and decreased expression of PGC-1 alpha were involved in this process.",
"the results demonstrated that TMZ is cardioprotective... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20167841",
"http://www.ncbi.nlm.nih.gov/pubmed/20383170",
"http://www.ncbi.nlm.nih.gov/pubmed/19546072",
"http://www.ncbi.nlm.nih.gov/pubmed/15616764"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0004706",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D048670",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0004709",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0004708",... |
54d6562c3706e8952800000b | factoid | Which is the enzymatic activity of the myotubularin family of proteins? | [
"The myotubularin family of proteins are lipid inositol phosphatases"
] | [
"lipid inositol phosphatase activity"
] | [
"myotubularin family of phosphatases.",
"Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., \"MTMRs\")",
"myotubalarin family phosphatase",
"MTMR2 is a member of the myotubularin family of inositol lip... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15998640",
"http://www.ncbi.nlm.nih.gov/pubmed/23086420",
"http://www.ncbi.nlm.nih.gov/pubmed/12646134",
"http://www.ncbi.nlm.nih.gov/pubmed/21372139",
"http://www.ncbi.nlm.nih.gov/pubmed/22578719",
"http://www.ncbi.nlm.nih.gov/pubmed/17346927",
"http://www.ncbi.nlm.n... | [] | [] |
55435aeced966d112c000007 | yesno | Can we detect DNA strand asymmetries using dinucleotide relative abundance "genomic signatures"? | [
"The set of dinucleotide relative abundances can be regarded as a genomic signature because, despite diversity between species, it varies little between 50 kilobase or longer windows on a given genome. Thus, dinucleotide relative abundance profiles are species-type specific. These profiles are computed from the bas... | [
"no"
] | [
"comparing the heterogeneities of bacterial genomes with respect to strand-independent first- and second-order features, (i) G + C content and (ii) dinucleotide relative abundance,",
"the concept of a genomic signature was introduced with the observation of species-type specific Dinucleotide Relative Abundance Pr... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15046306",
"http://www.ncbi.nlm.nih.gov/pubmed/12171605",
"http://www.ncbi.nlm.nih.gov/pubmed/15716010",
"http://www.ncbi.nlm.nih.gov/pubmed/9294192",
"http://www.ncbi.nlm.nih.gov/pubmed/18799480",
"http://www.ncbi.nlm.nih.gov/pubmed/9520433",
"http://www.ncbi.nlm.nih... | [] | [] |
515ddda6298dcd4e5100001f | factoid | What is the percentage of responders to tetrabenazine treatment for dystonia in children? | [
"Tetrabenazine is used empirically in the treatment of dystonia in children with variable success. Observational studies report improvement of up to > 60% of the patients."
] | [
"up to > 60%"
] | [
"report a patient with dystonia secondary to bilateral lesions of the basal ganglia",
"The patient's dystonia responded to Trihexyphenidyl and to tetrabenazine, but these medications needed to be stopped because of side effects.",
"An 8-year-old girl received 53 grays radiotherapy after surgery for craniopharyn... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19808991",
"http://www.ncbi.nlm.nih.gov/pubmed/9040721",
"http://www.ncbi.nlm.nih.gov/pubmed/12710012",
"http://www.ncbi.nlm.nih.gov/pubmed/6128697",
"http://www.ncbi.nlm.nih.gov/pubmed/3400500",
"http://www.ncbi.nlm.nih.gov/pubmed/6502174",
"http://www.ncbi.nlm.nih.g... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:543",
"http://www.disease-ontology.org/api/metadata/DOID:544",
"http://www.disease-ontology.org/api/metadata/DOID:5159",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014103",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi... |
5344194daeec6fbd07000006 | yesno | Is there any relationship between histone ubiquitylation and splicing? | [
"Yes, in the case of histone H2B"
] | [
"yes"
] | [
"histone H2B-specific deubiquitinase and demonstrate that H2B deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.",
"H2B monoubiquitylation (H2BK123ub1) marks introns in Saccharomyces cerevisiae",
"H2B ubiquitination by facilitating splicing",
"pre-mRNA spli... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23824326",
"http://www.ncbi.nlm.nih.gov/pubmed/19561118",
"http://www.ncbi.nlm.nih.gov/pubmed/23209445",
"http://www.ncbi.nlm.nih.gov/pubmed/22188810"
] | [] | [
"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=D054875",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025801",
"http://www.uniprot.org/uniprot/UB... |
56bc7d71ac7ad10019000018 | factoid | Which disease can be treated with Delamanid? | [
"Delamanid is used in patients with multidrug-resistant tuberculosis."
] | [
"tuberculosis"
] | [
"Recently approved anti-Tb drugs (bedaquiline and delamanid) have the potential to induce arrhythmia and are recommended in patients with MDR-Tb when other alternatives fail.",
"Delamanid: a review of its use in patients with multidrug-resistant tuberculosis.",
"Delamanid (Deltyba(®)), a nitroimidazo-oxazole de... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25404020",
"http://www.ncbi.nlm.nih.gov/pubmed/26288734",
"http://www.ncbi.nlm.nih.gov/pubmed/25327169",
"http://www.ncbi.nlm.nih.gov/pubmed/24729727",
"http://www.ncbi.nlm.nih.gov/pubmed/22670901"
] | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A20909765",
"o": "C516022"
},
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A0049608",
"o": "D004194"
}
] | [] |
5314c045dae131f847000007 | summary | What was the aim of the COSS (Carotid Occlusion Surgery Study) clinical trial? | [
"The Carotid Occlusion Surgery Study (COSS) was conducted to determine if superficial temporal artery-middle cerebral artery (STA-MCA) bypass, when added to the best medical therapy, would reduce subsequent ipsilateral stroke in patients with complete internal carotid artery (ICA) occlusion and an elevated oxygen e... | [] | [
"The Carotid Occlusion Surgery Study (COSS) was conducted to determine if superficial temporal artery-middle cerebral artery (STA-MCA) bypass, when added to the best medical therapy, would reduce subsequent ipsilateral stroke in patients with complete internal carotid artery (ICA) occlusion and an elevated oxygen e... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21772967",
"http://www.ncbi.nlm.nih.gov/pubmed/22682265",
"http://www.ncbi.nlm.nih.gov/pubmed/21960571",
"http://www.ncbi.nlm.nih.gov/pubmed/22244016",
"http://www.ncbi.nlm.nih.gov/pubmed/22645702",
"http://www.ncbi.nlm.nih.gov/pubmed/22220280",
"http://www.ncbi.nlm.n... | [
{
"p": "http://data.linkedct.org/resource/linkedct/description",
"s": "http://data.linkedct.org/resource/trials/NCT00029146",
"o": "\n The overall purpose of this research is to determine if a surgical operation called\n \"Extracranial-Intracranial Bypass\" can reduce the chance of a subsequen... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002986",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016430"
] |
51630226298dcd4e5100004d | list | What are the advantages of the top down mass spectrometric analysis of histones? | [
"Top down mass spectrometry is a way to analyze intact proteins thus enabling: isoform characteriztion and analysis of post-translational modifications."
] | [
"isoform characteriztion",
"determination of the type and location of post translational modifications"
] | [
"recent advances in MS technology, such as high-field Fourier transform ion cyclotron resonance (FTICR)-mass spectrometry, have permitted the study of intact proteins and their modifications. On-line and off-line protein separation instruments coupled to FTICR-MS allow the characterization of PTMs previously undete... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17652096",
"http://www.ncbi.nlm.nih.gov/pubmed/18381279",
"http://www.ncbi.nlm.nih.gov/pubmed/20879039",
"http://www.ncbi.nlm.nih.gov/pubmed/16457589",
"http://www.ncbi.nlm.nih.gov/pubmed/22647927",
"http://www.ncbi.nlm.nih.gov/pubmed/21898261",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A10908479",
"o": "Mass Spectrometry Mass Spectrometry"
},
{
"p": "http://www.w3.org/2004/02/skos/core#prefLabel",
"s": "http://linkedlifedata.com/resource/chebi/id/CHEBI:15358",
"o... | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013057",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D042421",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016339",
"http://www.nlm.nih.gov/cgi/mesh/2... |
56d3346cf22319765a000008 | factoid | What is situs inversus? | [
"Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs."
] | [
"Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs."
] | [
"Situs inversus totalis is a relatively rare condition and is an autosomal recessive congenital defect in which an abdominal and/or thoracic organ is positioned as a \"mirror image\" of the normal position in the sagittal plane.",
"Situs inversus totalis (SIT) represents a total vertical transposition of the thor... | [
"http://www.ncbi.nlm.nih.gov/pubmed/26155517",
"http://www.ncbi.nlm.nih.gov/pubmed/26155468",
"http://www.ncbi.nlm.nih.gov/pubmed/26336554",
"http://www.ncbi.nlm.nih.gov/pubmed/26087838",
"http://www.ncbi.nlm.nih.gov/pubmed/25527777",
"http://www.ncbi.nlm.nih.gov/pubmed/25296948",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012857",
"http://www.disease-ontology.org/api/metadata/DOID:758"
] |
56cc947b5795f9a73e000033 | yesno | Can SUMO affect calcium homeostasis? | [
"Yes, SUMO proteins can affect calcium homeostasis."
] | [
"yes"
] | [
"Increasing SUMOylation levels correlated inversely with calcium influx in sensory neurons.",
"CRMP2 deSUMOylation by SUMO proteases SENP1 and SENP2 normalized calcium influx to those in the CRMP2AAA mutant.",
"Thus, our results identify a novel role for SUMO modification in CRMP2/CaV2.2 signaling pathway",
"... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10995744",
"http://www.ncbi.nlm.nih.gov/pubmed/23510938",
"http://www.ncbi.nlm.nih.gov/pubmed/24290762",
"http://www.ncbi.nlm.nih.gov/pubmed/21900893"
] | [] | [
"http://amigo.geneontology.org/amigo/term/GO:0055074",
"http://www.uniprot.org/uniprot/SUMO_CAEEL"
] |
52b2e1d8f828ad283c00000c | factoid | What is the indication of Daonil (Glibenclamide)? | [
"Glibenclamide is an antidiabetic and antiglycemic, used in severe NIDDM, and increasingly viewed as a rational alternative to insulin therapy."
] | [
"Diabetes mellitus"
] | [
"Metformin and glibenclamide are now increasingly viewed as a rational alternative to insulin therapy--a treatment both preferred by the women and a less expensive one, during pregnancy and breastfeeding.",
"The effect of TFG on blood glucose were studied and the levels of lipid peroxidation [MDA (Malondialdehyde... | [
"http://www.ncbi.nlm.nih.gov/pubmed/12460666",
"http://www.ncbi.nlm.nih.gov/pubmed/22639778",
"http://www.ncbi.nlm.nih.gov/pubmed/16922811",
"http://www.ncbi.nlm.nih.gov/pubmed/6805141",
"http://www.ncbi.nlm.nih.gov/pubmed/21608438",
"http://www.ncbi.nlm.nih.gov/pubmed/10199151"
] | [] | [
"http://www.biosemantics.org/jochem#4275786",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005905",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006305"
] |
55411d9f379ddf3f47000001 | factoid | Which is the most typical peptide sequence responsible for retrieval of endoplasmic reticulum (ER) lumenal proteins from the Golgi apparatus? | [
"The lumenal endoplasmic reticulum (ER) proteins carry a specific sorting signal which enables their retrieval from multiple post-ER compartments (up to the TGN along the exocytotic pathway), back to the ER. The most typical such signal is the carboxyl-terminal Lys-Asp-Glu-Leu (KDEL), which is bound by a KDEL recep... | [
"the carboxyl-terminal Lys-Asp-Glu-Leu (KDEL)"
] | [
"Retention of soluble proteins in the endoplasmic reticulum is dependent on their interaction with the KDEL (Lys-Asp-Glu-Leu) receptor in the Golgi apparatus and their subsequent retrieval back to the endoplasmic reticulum.",
"the retrieval system for lumenal ER proteins. These proteins carry a specific sorting s... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10748089",
"http://www.ncbi.nlm.nih.gov/pubmed/15170512",
"http://www.ncbi.nlm.nih.gov/pubmed/7798312",
"http://www.ncbi.nlm.nih.gov/pubmed/9914159",
"http://www.ncbi.nlm.nih.gov/pubmed/1334264",
"http://www.ncbi.nlm.nih.gov/pubmed/9442098",
"http://www.ncbi.nlm.nih.g... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048238",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005788",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005783",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794",
"htt... |
515dd9a0298dcd4e5100001e | summary | What are the clinical trial outcomes of metformin use in polycystic ovary disease? | [
"Metformin treatment vs placebo significantly but modestly improves ovulation frequency in women with abnormal ovarian function/oligomenorrhea and polycystic ovaries, the lower BMI women were more likely to become pregnant. While in naturally conceiving normal weight PCOS women pre-treatment with metformin tends ... | [] | [
"It has been demonstrated that by reducing hyperinsulinemia, in particular with the administration of metformin, insulin-lowering agents might improve endocrine and reproductive abnormalities in PCOS patients.",
"Metformin has failed to gain wide acceptance as a first-line treatment option for women with anovulat... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11473953",
"http://www.ncbi.nlm.nih.gov/pubmed/20517830",
"http://www.ncbi.nlm.nih.gov/pubmed/21631446",
"http://www.ncbi.nlm.nih.gov/pubmed/11836287",
"http://www.ncbi.nlm.nih.gov/pubmed/23412023",
"http://www.ncbi.nlm.nih.gov/pubmed/12364442",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:11612",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011085",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008687",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+E... |
5505eed08e1671127b000006 | list | List the main proteases used for sample digestion in proteomics. | [
"Trypsin is the main protease used in proteomics followed by Asp-N, chymotrypsin, LysC, GluC and thermolysin."
] | [
"trypsin",
"Asp-N",
"chymotrypsin",
"LysC",
"Glu-C",
"thermolysin"
] | [
"the consecutive use of endoproteinases LysC and trypsin",
" Asp-N to trypsin ",
" tryptic digestion",
"tryptic digest",
"enzymatic digestion is most commonly performed using trypsin",
"chymotrypsin/trypsin digestion",
"In this method, chymotrypsin, single or in combination with trypsin, was used, which... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23728546",
"http://www.ncbi.nlm.nih.gov/pubmed/24140975",
"http://www.ncbi.nlm.nih.gov/pubmed/22324799",
"http://www.ncbi.nlm.nih.gov/pubmed/23606249",
"http://www.ncbi.nlm.nih.gov/pubmed/24106208",
"http://www.ncbi.nlm.nih.gov/pubmed/24012793",
"http://www.ncbi.nlm.n... | [] | [] |
55451e53bf90a13052000003 | list | Which proteins act as factors that promote transcription-coupled repair in bacteria? | [
"Transcription coupled nucleotide excision repair (TC-NER or TCR) is a cellular process by which UV-induced damage and other road-blocks encountered in the transcribed strand are restored. Bacterial transcription-coupled repair is initiated when RNA polymerase stalled at a DNA lesion is removed by Mfd (Mutation fre... | [
"Mfd",
"NusA"
] | [
"Transcription-coupled repair (TCR) is a cellular process by which some forms of DNA damage are repaired more rapidly from transcribed strands of active genes than from nontranscribed strands or the overall genome. In humans, the TCR coupling factor, CSB, plays a critical role in restoring transcription following b... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18707026",
"http://www.ncbi.nlm.nih.gov/pubmed/20702425",
"http://www.ncbi.nlm.nih.gov/pubmed/22427630",
"http://www.ncbi.nlm.nih.gov/pubmed/20696893",
"http://www.ncbi.nlm.nih.gov/pubmed/15687384",
"http://www.ncbi.nlm.nih.gov/pubmed/20110508",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090262",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006283"
] |
54f4914bd0d681a040000001 | summary | What is the association between Generalized anxiety disorder and mortality risk? | [
"Numerous studies have demonstrated that Generalized anxiety disorder is associated with increased mortality risk in different populations, including veterans and non demented elderly individuals. Anxiety disorders predict greater mortality, particularly when present with other psychiatric disorders. However, one s... | [] | [
"RESULTS: MDD and GAD were positively and significantly associated with all-cause and CVD mortality. The relationships between MDD and GAD and CVD mortality were no longer significant after adjustment for sociodemograhics, health status at entry, health behaviors, and other risk markers. ",
"In analyses comparing... | [
"http://www.ncbi.nlm.nih.gov/pubmed/12947243",
"http://www.ncbi.nlm.nih.gov/pubmed/9133488",
"http://www.ncbi.nlm.nih.gov/pubmed/22549369",
"http://www.ncbi.nlm.nih.gov/pubmed/19321850",
"http://www.ncbi.nlm.nih.gov/pubmed/23929442",
"http://www.ncbi.nlm.nih.gov/pubmed/1474300",
"http://www.ncbi.nlm.nih... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009026",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012306"
] |
54d907c84b1fd0d33c000008 | factoid | Which molecule is targeted by a monoclonal antibody Mepolizumab? | [
"Mepolizumab is a humanized monoclonal antibody that binds to and inactivates interleukin-5 that has been shown to reduce asthma exacerbations in patients with severe eosinophilic asthma."
] | [
"interleukin-5"
] | [
"Mepolizumab, a humanized monoclonal antibody that binds to and inactivates interleukin-5, has been shown to reduce asthma exacerbations in patients with severe eosinophilic asthma.",
" Patients were assigned to receive mepolizumab, a humanized monoclonal antibody against interleukin-5, which was administered as ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21824072",
"http://www.ncbi.nlm.nih.gov/pubmed/20021987",
"http://www.ncbi.nlm.nih.gov/pubmed/25199060",
"http://www.ncbi.nlm.nih.gov/pubmed/19929788",
"http://www.ncbi.nlm.nih.gov/pubmed/22092535",
"http://www.ncbi.nlm.nih.gov/pubmed/15813818",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4002251"
] |
550342a8f8aee20f27000002 | factoid | Which is the major symptom of the Doose syndrome? | [
"Myoclonic astatic epilepsy is the major symptom of the Doose syndrome, which is a difficult to treat idiopathic generalized epilepsy of early childhood."
] | [
"myoclonic astatic epilepsy"
] | [
"KD is particularly effective in myoclonic astatic epilepsy (MAE; Doose Syndrome) and West syndrome with 100% and 81.25% of the patients having a greater than 50% seizure reduction, respectively. ",
"Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy?",
"PURPOSE: Myoclonic astatic e... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24696509",
"http://www.ncbi.nlm.nih.gov/pubmed/22266062",
"http://www.ncbi.nlm.nih.gov/pubmed/18990309",
"http://www.ncbi.nlm.nih.gov/pubmed/12073789",
"http://www.ncbi.nlm.nih.gov/pubmed/21396429",
"http://www.ncbi.nlm.nih.gov/pubmed/23159713",
"http://www.ncbi.nlm.n... | [] | [] |
52b2ecd34003448f55000003 | yesno | Have mutations in the GARS gene been identified to cause Charcot-Marie-Tooth Disease Type 2D (CMT2D)? | [
"Charcot-Marie-Tooth disease type 2D (CMT2D) is caused by missense mutations in the glycyl-tRNA synthetase gene (GARS)."
] | [
"yes"
] | [
"Charcot-Marie-Tooth disease type 2D is a hereditary axonal and glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. ",
"Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V - allelic disorders characterized by predominantly distal ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17035524",
"http://www.ncbi.nlm.nih.gov/pubmed/20301420",
"http://www.ncbi.nlm.nih.gov/pubmed/20301462",
"http://www.ncbi.nlm.nih.gov/pubmed/16982418",
"http://www.ncbi.nlm.nih.gov/pubmed/16014653",
"http://www.ncbi.nlm.nih.gov/pubmed/22462675",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseasome/associatedGene",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1836",
"o": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/genes/CMT2D"
},
{
"p": "http://www.w3.org/2000/01/rdf-schema#label",
"s": "h... | [
"http://www.uniprot.org/uniprot/SYG_RAT",
"http://www.uniprot.org/uniprot/SYG_HUMAN",
"http://www.uniprot.org/uniprot/SYG_PONAB"
] |
550313aae9bde6963400001f | summary | Which treatment leads to an increase in neutrophil counts in severe congenital neutropenia? | [
"In phase I/II/III studies in patients with severe congenital and cyclic neutropenia, treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) resulted in a rise in the absolute neutrophil counts (ANC) and a reduction in infections ",
"In patients with severe congenital and cyclic ne... | [] | [
"This chapter focuses on cyclic and congenital neutropenia, two very interesting and rare hematological conditions causing severe chronic neutropenia. Both disorders respond well to treatment with the myeloid growth factor, granulocyte colony-stimulating factor (G-CSF)",
"Data on more than 600 patients with CN co... | [
"http://www.ncbi.nlm.nih.gov/pubmed/7529539",
"http://www.ncbi.nlm.nih.gov/pubmed/2683920",
"http://www.ncbi.nlm.nih.gov/pubmed/1705835",
"http://www.ncbi.nlm.nih.gov/pubmed/1689595",
"http://www.ncbi.nlm.nih.gov/pubmed/21052952",
"http://www.ncbi.nlm.nih.gov/pubmed/16822461"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:0050590"
] |
52eea509c8da89891000000d | list | Which genes are affected in ROMANO-WARD syndrome? | [
"The genes involved in ROMANO-WARD syndrome are KCNQ1, KCNE1, KCNE2, KCNH2, SCN5A, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5 and Ankyrin-B."
] | [
"KCNQ1",
"KVLQT1",
"KCNA9",
"KCNE1",
"KCNE2",
"KCNH2",
"HERG",
"SCN5A",
"CAV3",
"SCN4B",
"AKAP9",
"SNTA1",
"KCNJ5",
"Ankyrin-B gene"
] | [
"Long QT syndrome (LQTS) 1 is the most common type of inherited LQTS and is linked to mutations in the KCNQ1 gene. ",
"This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 ge... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10482963",
"http://www.ncbi.nlm.nih.gov/pubmed/15511625",
"http://www.ncbi.nlm.nih.gov/pubmed/20981542",
"http://www.ncbi.nlm.nih.gov/pubmed/19490272",
"http://www.ncbi.nlm.nih.gov/pubmed/9511785",
"http://www.ncbi.nlm.nih.gov/pubmed/15950200",
"http://www.ncbi.nlm.ni... | [
{
"p": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseasome/associatedGene",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/2988",
"o": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/genes/KCNQ1"
},
{
"p": "http://www.w3.org/2000/01/rdf-schema#label",
"s": "h... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D029597",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005796"
] |
515df6f2298dcd4e5100002d | yesno | Does melanoma occur in people of African origin ? | [
"Yes. Africans with dark skin have a reduced risk of getting all types of skin cancer as compared with Caucasians. The incidence of malignant melanoma in Johannesburg Black was 1,2 per 100 000 and accounted for 2% of all cancers. The largest number of cases occurred in the 50- 70-year age group and there was a fema... | [
"yes"
] | [
"ALM is the most common type of melanoma amongst Asians, Africans,",
"ALM develops on palmar, plantar, and subungual skin, and its biology is different from that of other cutaneous melanomas, where sunlight is the major known environmental determinant",
"We present four albinos with histologic diagnoses of skin... | [
"http://www.ncbi.nlm.nih.gov/pubmed/1920508",
"http://www.ncbi.nlm.nih.gov/pubmed/20415670",
"http://www.ncbi.nlm.nih.gov/pubmed/8260178",
"http://www.ncbi.nlm.nih.gov/pubmed/19538377",
"http://www.ncbi.nlm.nih.gov/pubmed/19450404",
"http://www.ncbi.nlm.nih.gov/pubmed/475965",
"http://www.ncbi.nlm.nih.g... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018326",
"http://www.disease-ontology.org/api/metadata/DOID:1909",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008545",
"http://www.disease-ontology.org/api/metadata/DOID:4159"
] |
551177626a8cde6b72000005 | summary | What is the effect of resveratrol on mTOR activity? | [
"Resveratrol (RSV) inhibits leucine-stimulated mTORC1 activation by promoting mTOR/DEPTOR.",
"Resveratrol downregulates PI3K/Akt/mTOR signaling pathways in human cells. It has been found that resveratrol targets multiple components of the phosphatidylinositol 3- kinase(PI3K)/Akt and mTOR signaling pathways, inclu... | [] | [
"Resveratrol inhibits mTOR signaling by promoting the interaction between mTOR and DEPTOR",
"Here, we show that RSV inhibits insulin- and leucine-stimulated mTOR signaling in C2C12 fibroblasts via a Sirt1-independent mechanism",
"Treating C2C12 cells with RSV dramatically inhibited insulin-stimulated Akt, S6 ki... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23272906",
"http://www.ncbi.nlm.nih.gov/pubmed/23211629",
"http://www.ncbi.nlm.nih.gov/pubmed/21966552",
"http://www.ncbi.nlm.nih.gov/pubmed/24060150",
"http://www.ncbi.nlm.nih.gov/pubmed/22530672",
"http://www.ncbi.nlm.nih.gov/pubmed/23680031",
"http://www.ncbi.nlm.n... | [] | [
"http://www.uniprot.org/uniprot/MTOR_MOUSE",
"http://www.uniprot.org/uniprot/MTOR_HUMAN",
"http://www.biosemantics.org/jochem#4272358"
] |
551ae6c564b14b4618000001 | yesno | Are people with blood group O protected against severe Malaria? | [
"It appears that individuals who are of blood-group O are relatively resistant to the severe disease caused by P. falciparum infection."
] | [
"yes"
] | [
"Differential carbonylation of cytoskeletal proteins in blood group O erythrocytes: potential role in protection against severe malaria.",
". Our findings indicate a possible correlation between the protection against severe malaria in blood group O individuals and a specific pattern of 4-HNE-carbonylation of cyt... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22771625",
"http://www.ncbi.nlm.nih.gov/pubmed/17959777",
"http://www.ncbi.nlm.nih.gov/pubmed/23071435",
"http://www.ncbi.nlm.nih.gov/pubmed/22818742",
"http://www.ncbi.nlm.nih.gov/pubmed/15814030"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:14067",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001769",
"http://www.disease-ontology.org/api/metadata/DOID:4176",
"http://www.disease-ontology.org/api/metadata/DOID:12365",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB... |
56bdc79bef6e394741000001 | factoid | Which eye condition is managed by the athens protocol? | [
"The athens protocol (transepithelial topography-guided PRK therapeutic remodeling, combined with same-day, collagen cross-linking) was developed for the management of cornea blindness due to severe corneal scarring."
] | [
"Keratoconus",
"cornea blindness due to severe corneal scarring"
] | [
"Keratoconus management: long-term stability of topography-guided normalization combined with high-fluence CXL stabilization (the Athens Protocol).",
"The Athens Protocol to arrest keratectasia progression and improve corneal regularity demonstrates safe and effective results as a keratoconus management option. P... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21117539",
"http://www.ncbi.nlm.nih.gov/pubmed/24763473",
"http://www.ncbi.nlm.nih.gov/pubmed/25176050",
"http://www.ncbi.nlm.nih.gov/pubmed/22347790",
"http://www.ncbi.nlm.nih.gov/pubmed/24893359"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:10428",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005123"
] |
516c0dc6298dcd4e5100006c | summary | What is the role of AMPK kinase in myocardial remodeling after myocardial infarction | [
"AMP-activated protein kinase (AMPK) is a key sensor of cellular energy. The activation of AMPK by metformin prevents cardiac remodeling after myocardial infarction (MI). \nAdiponectin protects the heart from ischemia-reperfusion injury through an AMPK-dependent mechanism.\nAMPK activation by metformin and the subs... | [] | [
"These data suggest that adiponectin protects the heart from ischemia-reperfusion injury through both AMPK- and COX-2-dependent mechanisms.",
"The improved cardiac function was associated with decreased atrial natriuretic peptide mRNA levels in the metformin-treated group (50% reduction compared with MI, P < 0.05... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16155579",
"http://www.ncbi.nlm.nih.gov/pubmed/23122726",
"http://www.ncbi.nlm.nih.gov/pubmed/21572014",
"http://www.ncbi.nlm.nih.gov/pubmed/22043210",
"http://www.ncbi.nlm.nih.gov/pubmed/22344560"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:5843",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0031588",
"http://www.disease-ontology.org/api/metadata/DOID:5846",
"http://www.disease-ontology.org/api/metadata/DOID:5847",
"http://www.disease-ontology.org/api/metadata/DOID:5844",
"... |
52fc94ae2059c6d71c000073 | summary | What is the mechanism of action of solanezumab? | [
"Solanezumab is a monoclonal anti-amyloid beta peptide (Aβ) antibody. It has been tested for treatment of Alzheimer's disease patients.",
"Solanezumab, a humanized anti-Aβ monoclonal antibody directed against the midregion of the Aβ peptide, was shown to neutralize soluble Aβ species."
] | [] | [
"Anti-amyloid treatment in asymptomatic AD (A4) is a prevention trial aimed at treating older individuals with normal cognition but at risk of developing AD dementia on the basis of having biomarker evidence of amyloid (preclinical AD). They selected solanezumab for the anti-amyloid treatment for A4.",
"Passive i... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24101429",
"http://www.ncbi.nlm.nih.gov/pubmed/21784350",
"http://www.ncbi.nlm.nih.gov/pubmed/23568994",
"http://www.ncbi.nlm.nih.gov/pubmed/21868184",
"http://www.ncbi.nlm.nih.gov/pubmed/24353405",
"http://www.ncbi.nlm.nih.gov/pubmed/24063020",
"http://www.ncbi.nlm.n... | [
{
"p": "http://data.linkedct.org/resource/linkedct/intervention_type",
"s": "http://data.linkedct.org/resource/intervention/13258",
"o": "Drug"
},
{
"p": "http://data.linkedct.org/resource/linkedct/intervention_name",
"s": "http://data.linkedct.org/resource/intervention/13258",
"o": "Sol... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045504",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020228"
] |
54e1252fae9738404b000003 | list | What are the major clinical Villefranche criteria for classic Ehlers-Danlos syndrome? | [
"The major clinical Villefranche criteria for classic Ehlers-Danlos syndrome are skin hyperextensibility, dystrophic scarring, and joint hypermobility."
] | [
"skin hyperextensibility",
"dystrophic scarring",
"joint hypermobility"
] | [
"All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical Villefranche criteria, that is, skin hyperextensibility, dystrophic scarring and joint hypermobility",
"All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22696272"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:13359"
] |
515da6e2298dcd4e51000010 | list | What is the treatment of neuropathic pain in children? | [
"It is unclear if any treatment is registered for pediatric use. The reported treatments are:\nOxcarbazepine \nOpioids alone, in rotations or with Analgesics (e.g. Ketamine and Lidocaine infusion)\nOpioids and Benzodiazepines\nPregabalin - is one of the first drugs registered for the treatment of neuropathic pain... | [
"Oxcarbazepine",
"Opioids alone, in rotations or with Analgesics (e.g. Ketamine and Lidocaine infusion)",
"Opioids and Benzodiazepines - for terminal care",
"Pregabalin",
"Tricyclic Antidepressants",
"Lidocaine 5% patches for chronic localized neuropathic pain",
"Ketamine"
] | [
"Oxcarbazepine, a metabolite of carbamazepine, is used as an antiepileptic, analgesic for neuropathic pain and in the treatment of affective disorders. It has been approved by the Food and Drug Administration for partial seizures in adults as both adjunctive and monotherapy, and as adjunctive therapy in children ag... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22401313",
"http://www.ncbi.nlm.nih.gov/pubmed/22147611",
"http://www.ncbi.nlm.nih.gov/pubmed/18363625",
"http://www.ncbi.nlm.nih.gov/pubmed/7561230",
"http://www.ncbi.nlm.nih.gov/pubmed/15265351",
"http://www.ncbi.nlm.nih.gov/pubmed/22735246",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010146",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812",
"http://www.disease-ontology.org/api/metadata/DOID:0060164"
] |
54fc3cf410565e080c000001 | summary | Which phenomenon is known as the "calcium paradox" in the isolated perfused heart? | [
"\"Calcium paradox\" as a term describes the deleterious effects conferred to a heart perfused with a calcium-free solution followed by repletion, including loss of mechanical activity and sarcomere disruption.Isolated perfusion of the heart with a Ca2+-free perfusate followed by a Ca2+-containing perfusate causes ... | [] | [
"\"Calcium paradox\" as a term describes the deleterious effects conferred to a heart perfused with a calcium-free solution followed by repletion, including loss of mechanical activity and sarcomere disruption.",
"Calcium paradox was found to markedly activate members of the MAPKs (p43-ERK, JNKs, p38-MAPK). ",
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24289081",
"http://www.ncbi.nlm.nih.gov/pubmed/16901476",
"http://www.ncbi.nlm.nih.gov/pubmed/6626051",
"http://www.ncbi.nlm.nih.gov/pubmed/4058248",
"http://www.ncbi.nlm.nih.gov/pubmed/2720439",
"http://www.ncbi.nlm.nih.gov/pubmed/6823106",
"http://www.ncbi.nlm.nih.g... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002118",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010477",
"http://www.biosemantics.org/jochem#4277675"
] |
532aad53d6d3ac6a34000010 | yesno | Is there a crystal structure of the full-length of the flaviviridae NS5(Methyltransferase - RNA depended RNA Polymerase) ? | [
"Yes, there is the crystal Structure of the full-length Japanese encephalitis virus (Flaviviridae) NS5 - PDB:4K6M"
] | [
"yes"
] | [
" flavivirus NS5 harbors a methyltransferase (MTase) in its N-terminal ≈ 265 residues and an RNA-dependent RNA polymerase (RdRP) within the C-terminal part. One of the major interests and challenges in NS5 is to understand the interplay between RdRP and MTase as a unique natural fusion protein in viral genome repli... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22365326",
"http://www.ncbi.nlm.nih.gov/pubmed/19710254",
"http://www.ncbi.nlm.nih.gov/pubmed/23355615",
"http://www.ncbi.nlm.nih.gov/pubmed/22757685",
"http://www.ncbi.nlm.nih.gov/pubmed/17287213",
"http://www.ncbi.nlm.nih.gov/pubmed/23950717"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018067",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003460",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018178",
"http://www.nlm.nih.gov/cgi/mesh/2... |
56cafb1b5795f9a73e00002f | summary | How do Hsp70 and Hsp110 affect mRNA stability? | [
"Hsp70 and Hsp110 act as RNA-binding entities in vivo to guide the appropriate folding of RNA substrates for subsequent regulatory processes such as mRNA degradation and/or translation."
] | [] | [
"Mammalian Hsp70 and Hsp110 proteins bind to RNA motifs involved in mRNA stability",
"Hsp/Hsc70 and Hsp110 proteins preferentially bound AU-rich RNA in vitro",
"certain heat shock proteins may act as RNA-binding entities in vivo to guide the appropriate folding of RNA substrates for subsequent regulatory proces... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10358092"
] | [] | [] |
533175add6d3ac6a3400003c | summary | What is Prudent Diet? | [
"The Prudent dietary pattern is characterised by high intakes of vegetables, fruits, whole grain products and low intakes of refined grain products, legumes, fish, poultry. Generally recommendations are to use saturated/trans fat intake less than 10% of total calories and cholesterol less than 300 mg/day and/or fib... | [] | [
"Long-term diet was assessed by using FFQs every 4 y since 1986. Prudent (high in vegetables) and Western (high in meats) patterns were identified by using a principal component analysis.",
"The Prudent dietary pattern was characterised by high intakes of vegetables, fruits, whole grain products and low intakes o... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23741179",
"http://www.ncbi.nlm.nih.gov/pubmed/17076904",
"http://www.ncbi.nlm.nih.gov/pubmed/20624672",
"http://www.ncbi.nlm.nih.gov/pubmed/2173390",
"http://www.ncbi.nlm.nih.gov/pubmed/22034645",
"http://www.ncbi.nlm.nih.gov/pubmed/23953031",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004035",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005526",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005510",
"http://www.nlm.nih.gov/cgi/mesh/2... |
53175f0bb166e2b80600000c | summary | What is the role of necroptosis in cancer therapy? | [
"Necroptosis, a novel form of programmed cell death (PCD), is caspase independent but RIPK and RIPK3 dependent. The apoptotic, autophagic and necroptotic pathways of PCD were shown to be interconnected, with molecules such as FLIP acting as a bridge between them. Therefore, simultaneous activation of the three PCD ... | [] | [
"Previous evidences suggest that necroptosis has significant effects in regulating various physiological processes and disease, such as ischemic brain injury, immune system disorders and cancer.",
"Its signaling pathways have something in common with apoptosis, although the molecular mechanisms of necroptosis nee... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23875666",
"http://www.ncbi.nlm.nih.gov/pubmed/23301705",
"http://www.ncbi.nlm.nih.gov/pubmed/23625539",
"http://www.ncbi.nlm.nih.gov/pubmed/23729362"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070266",
"http://www.disease-ontology.org/api/metadata/DOID:162",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060553",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009369",
"http:/... |
56cf32e23975bb303a000006 | yesno | Can venlafaxine block NET and SERT? | [
"Yes, venlafaxine inhibits both the NET and SERT."
] | [
"yes"
] | [
"Treatment for 14 days with 70 mg/kg per day venlafaxine, which inhibits both the NET and SERT, or 10 mg/kg per day phenelzine, a monoamine oxidase inhibitor, produced antidepressant-like effects on behavior without altering NET or SERT expression.",
"Venlafaxine blocks both serotonin and norepinephrine transport... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10490914",
"http://www.ncbi.nlm.nih.gov/pubmed/9252010",
"http://www.ncbi.nlm.nih.gov/pubmed/12784104",
"http://www.ncbi.nlm.nih.gov/pubmed/16140280",
"http://www.ncbi.nlm.nih.gov/pubmed/23090625",
"http://www.ncbi.nlm.nih.gov/pubmed/15989562",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4277061"
] |
5118dd1305c10fae75000001 | factoid | Is Rheumatoid Arthritis more common in men or women? | [
"Disease patterns in RA vary between the sexes; the condition is more commonly seen in women, who exhibit a more aggressive disease and a poorer long-term outcome."
] | [
"Women"
] | [
"Our results show a high prevalence of RA in LAC women with a ratio of 5.2 women per man",
"RA in LAC women is not only more common but presents with some clinical characteristics that differ from RA presentation in men. Some of those characteristics could explain the high rates of disability and worse prognosis ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21340496",
"http://www.ncbi.nlm.nih.gov/pubmed/22853635",
"http://www.ncbi.nlm.nih.gov/pubmed/19158113",
"http://www.ncbi.nlm.nih.gov/pubmed/20889597",
"http://www.ncbi.nlm.nih.gov/pubmed/18759162",
"http://www.ncbi.nlm.nih.gov/pubmed/16418123",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001171",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012217",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015535",
"http://www.nlm.nih.gov/cgi/mesh/2... |
56c234a4ef6e394741000059 | summary | What is FINDbase? | [
"Frequency of INherited Disorders database (FINDbase) (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the relat... | [] | [
"FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.",
"Frequency of INherited Disorders database (FINDbase) (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21113021",
"http://www.ncbi.nlm.nih.gov/pubmed/17135191",
"http://www.ncbi.nlm.nih.gov/pubmed/22659238",
"http://www.ncbi.nlm.nih.gov/pubmed/24234438"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019991"
] |
572211540fd6f91b68000016 | yesno | Can vitamin B1 deficiency cause encephalopathy? | [
"Wernicke's encephalopathy (WE) is a severe neurological syndrome caused by thiamine (vitamin B1) deficiency and clinically characterized by the sudden onset of mental status changes, ocular abnormalities, and ataxia. It is commonly associated with heavy alcohol consumption. Other clinical associations are with hyp... | [
"yes"
] | [
"Wernicke's encephalopathy (WE) is a severe neurological syndrome caused by thiamine (vitamin B1) deficiency and clinically characterized by the sudden onset of mental status changes, ocular abnormalities, and ataxia",
"Wernicke encephalopathy (or Wernicke-Korsakoff encephalopathy) is a rarely diagnosed neurologi... | [
"http://www.ncbi.nlm.nih.gov/pubmed/9279523",
"http://www.ncbi.nlm.nih.gov/pubmed/20943242",
"http://www.ncbi.nlm.nih.gov/pubmed/23042832",
"http://www.ncbi.nlm.nih.gov/pubmed/24620429",
"http://www.ncbi.nlm.nih.gov/pubmed/24379094",
"http://www.ncbi.nlm.nih.gov/pubmed/24973622",
"http://www.ncbi.nlm.ni... | [] | [] |
534ebb59288f4dae47000004 | factoid | Which methyl-CpG-binding protein when mutant becomes the hallmark for Rett syndrome? | [
"Rett syndrome (RTT) was shown to be caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, with molecular studies identifying MECP2 mutations in up to 80% of classic RTT patients. MECP2 protein was found to assist in the transcriptional silencing process via DNA methylation. We therefore hypothesize... | [
"Methyl-CpG-binding protein 2 (MECP2)"
] | [
"Rett syndrome (RTT) results from loss-of-function mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2) and is characterized by abnormal motor, respiratory and autonomic control, cognitive impairment, autistic-like behaviors and increased risk of seizures. ",
"Rett syndrome (RTT) is an autism s... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18534925",
"http://www.ncbi.nlm.nih.gov/pubmed/22138506",
"http://www.ncbi.nlm.nih.gov/pubmed/22302819",
"http://www.ncbi.nlm.nih.gov/pubmed/11180222"
] | [] | [
"http://www.uniprot.org/uniprot/MECP2_HUMAN",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032259",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004268",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008745",
"h... |
54f7291630767eb92e000002 | yesno | Are epigenetic modifications implicated in cardiovascular development and disease? | [
"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 chrom... | [
"yes"
] | [
"Gene expression regulation through the interplay of DNA methylation and histone modifications is well-established, although the knowledge about the function of epigenetic signatures in cardiovascular disease is still largely unexplored.",
"The study of epigenetic markers is, therefore, a very promising frontier ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22773406",
"http://www.ncbi.nlm.nih.gov/pubmed/22981780",
"http://www.ncbi.nlm.nih.gov/pubmed/20603647",
"http://www.ncbi.nlm.nih.gov/pubmed/21372004",
"http://www.ncbi.nlm.nih.gov/pubmed/23448446",
"http://www.ncbi.nlm.nih.gov/pubmed/22035349",
"http://www.ncbi.nlm.n... | [] | [
"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"
] |
517a8bef8ed59a060a000041 | list | Which deiodinases are present in skeletal muscle? | [
"Type 2 and Type 3 deiodinases are expressed in skeletal muscle and their expression is modulated by disease state and fasting."
] | [
"Type 2 deiodinase",
"Tipe 3 deiodinase"
] | [
"The iodothyronine deiodinases D1, D2, and D3 enable tissue-specific adaptation of thyroid hormone levels in response to various conditions, such as hypothyroidism or fasting. The possible expression of D2 mRNA in skeletal muscle is intriguing because this enzyme could play a role in systemic as well as local T3 pr... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19293265",
"http://www.ncbi.nlm.nih.gov/pubmed/17986277",
"http://www.ncbi.nlm.nih.gov/pubmed/23396445",
"http://www.ncbi.nlm.nih.gov/pubmed/16127464"
] | [] | [] |
5148885ad24251bc05000032 | list | Which genes are involved in patient response to warfarin? | [
"The following genes have been associated with patient response to warfarin: CYP2C9, VKORC1, ORM1, CYP4F2, EPHX1, CYP2C18, CYP2C19, CYP3A5, protein S, clotting factor V, PROC, GGCX."
] | [
"CYP2C9",
"VKORC1",
"ORM1",
"CYP4F2",
"EPHX1",
"CYP2C18",
"CYP2C19",
"CYP3A5",
"protein S",
"clotting factor V",
"PROC",
"GGCX"
] | [
"We identified ORM1 as another polymorphic gene affecting warfarin dose requirements. ORM1 *S carriers require lower maintenance doses to achieve and maintain an optimal level of anticoagulation.",
"Detecting genetic polymorphism of CYP2C9 and VKORC1 could guide clinical use of warfarin to reduce the risk of adve... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23208322",
"http://www.ncbi.nlm.nih.gov/pubmed/22321278",
"http://www.ncbi.nlm.nih.gov/pubmed/22023024",
"http://www.ncbi.nlm.nih.gov/pubmed/21651319",
"http://www.ncbi.nlm.nih.gov/pubmed/17496169",
"http://www.ncbi.nlm.nih.gov/pubmed/19348697",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/1999/02/22-rdf-syntax-ns#type",
"s": "http://linkedlifedata.com/resource/#_5131303833330011",
"o": "http://purl.uniprot.org/core/Gene"
},
{
"p": "http://purl.uniprot.org/core/name",
"s": "http://purl.uniprot.org/pubmed/10524252",
"o": "Gene"
},
{
"p": "h... | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056426",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005815",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011110",
"http://www.nlm.nih.gov/cgi/mesh/2... |
54d7ae1fe19bba8909000001 | factoid | Which is the molecular weight of the protein angiogenin? | [
"The molecular weight of angiogenin is 14,120 Da. The bovine angiogenin is 14,595 Da"
] | [
"14,120 Da"
] | [
"Angiogenin is a potent blood-vessel-inducing polypeptide with a molecular weight of 14,000 that has a unique ribonucleolytic activity.",
" Bovine angiogenin is a single-chain protein of 125 amino acids; it contains six cysteines and has a calculated molecular weight of 14,595.",
"The amino acid composition of ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/7585697",
"http://www.ncbi.nlm.nih.gov/pubmed/1723310",
"http://www.ncbi.nlm.nih.gov/pubmed/18055286",
"http://www.ncbi.nlm.nih.gov/pubmed/2775757",
"http://www.ncbi.nlm.nih.gov/pubmed/10486275",
"http://www.ncbi.nlm.nih.gov/pubmed/4074709",
"http://www.ncbi.nlm.nih.g... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008970",
"http://www.uniprot.org/uniprot/ANGI_HUMAN",
"http://www.uniprot.org/uniprot/ANGI_SAGOE",
"http://www.uniprot.org/uniprot/ANGI_PYGBI",
"http://www.uniprot.org/uniprot/ANGI_MACMU",
"http://www.uniprot.org/uniprot/AN... |
571e189dbb137a4b0c000003 | list | List sodium glucose co-transporter-2 (SGLT2) inhibitors that have been FDA approved for type 2 diabetes mellitus treatment. | [
"Canagliflozin, along with dapagliflozin and empagliflozin, are SGLT2 inhibitors approved by the US FDA for use in the treatment of type 2 diabetes."
] | [
"Dapagliflozin",
"Empagliflozin",
"Canagliflozin"
] | [
"Canagliflozin was the first SGLT2 inhibitor to be approved by the US FDA for use in the treatment of type 2 diabetes, and recently dapagliflozin has also been approved.",
"To review available studies of empagliflozin, a sodium glucose co-transporter-2 (SGLT2) inhibitor approved in 2014 by the European Commission... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25712444",
"http://www.ncbi.nlm.nih.gov/pubmed/22632452",
"http://www.ncbi.nlm.nih.gov/pubmed/25488697",
"http://www.ncbi.nlm.nih.gov/pubmed/22433611",
"http://www.ncbi.nlm.nih.gov/pubmed/24741548",
"http://www.ncbi.nlm.nih.gov/pubmed/24455799",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003924",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014486",
"http://www.uniprot.org/uniprot/SC5A2_MOUSE",
"http://www.disease-ontology.org/api/metadata/DOID:9352",
"http://www.nlm.nih.... |
532f55fed6d3ac6a34000036 | factoid | What is the gene mutated in the Gaucher disease? | [
"The glucocerebrosidase gene (GBA)"
] | [
"glucocerebrosidase"
] | [
"The glucocerebrosidase gene (GBA), located in a gene-rich region on chromosome 1q 21, is mutated in Gaucher disease",
"(GD) is the most common of the lysosomal storage disorders and is caused by defects in the GBA gene encoding glucocerebrosidase",
"(GD) results from a deficiency of the lysosomal enzyme glucoc... | [
"http://www.ncbi.nlm.nih.gov/pubmed/8213821",
"http://www.ncbi.nlm.nih.gov/pubmed/8556817",
"http://www.ncbi.nlm.nih.gov/pubmed/11479729",
"http://www.ncbi.nlm.nih.gov/pubmed/16039881",
"http://www.ncbi.nlm.nih.gov/pubmed/8986634",
"http://www.ncbi.nlm.nih.gov/pubmed/23936319",
"http://www.ncbi.nlm.nih.... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005776",
"http://www.disease-ontology.org/api/metadata/DOID:1926"
] |
533eba45c45e133714000014 | summary | Why does the prodrug amifostine (ethyol) create hypoxia? | [
"After the administration of Prodrug amifostine the cells of the tissue prefer anaerobic glycolysis rather than regular cellular aerobic respiration. By the beggining of anaerobic glycolysis the inducible by hypoxia proteins are induced and by all these molecules the hypoxic conditions consist of."
] | [] | [
"Amifostine (WR-2721, delivered as Ethyol) is a phosphorylated aminothiol compound clinically used in addition to cis-platinum to reduce the toxic side effects of therapeutic treatment on normal cells without reducing their efficacy on tumour cells. ",
"However, amifostine has also been described as a potent hypo... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23154884",
"http://www.ncbi.nlm.nih.gov/pubmed/17852557",
"http://www.ncbi.nlm.nih.gov/pubmed/11597323",
"http://www.ncbi.nlm.nih.gov/pubmed/20334641",
"http://www.ncbi.nlm.nih.gov/pubmed/17602063",
"http://www.ncbi.nlm.nih.gov/pubmed/11984063",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A17889382",
"o": "N0000022033"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#altLabel",
"s": "http://linkedlifedata.com/resource/umls/id/C1874179",
"o": "http://linkedlifedata.com/re... | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071456",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004999",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001666",
"http://www.biosemantics.org/jochem#4217067",
"http://www.biosem... |
54eded8c94afd6150400000c | summary | What is considered a reliable technique for the definitive cytogenetic diagnosis of Fanconi anemia homozygosity? | [
"In vitro enhancement of chromosome breakage by diepoxybutane (DEB) and mitomycin C (MMC) are reliable techniques for the definitive cytogenetic diagnosis of Fanconi anemia homozygosity.",
"In the great majority of cases, DEB and MMC stressing are reliable techniques for the definitive cytogenetic diagnosis of FA... | [] | [
"The in vitro enhancement of chromosome breakage by diepoxybutane (DEB) and mitomycin C (MMC) was studied in 24 Fanconi's anemia (FA) homozygotes and 28 heterozygotes. Both drugs were shown to enhance chromosome breakage significantly in the homozygotes",
"In the great majority of cases, DEB and MMC stressing are... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19278965",
"http://www.ncbi.nlm.nih.gov/pubmed/22052692",
"http://www.ncbi.nlm.nih.gov/pubmed/3133104"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:1062",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020732",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005199",
"http://www.disease-ontology.org/api/metadata/DOID:13636"
] |
550895c12e93f0133a000002 | yesno | Can exosomes be detected in urine? | [
"Yes, urinary exosomes can be detected in urine."
] | [
"yes"
] | [
"Exosomes are nanovesicles secreted into the extracellular environment upon internal vesicle fusion with the plasma membrane. The molecular content of exosomes is a fingerprint of the releasing cell type and of its status. For this reason, and because they are released in easily accessible body fluids such as blood... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24250247",
"http://www.ncbi.nlm.nih.gov/pubmed/24315007",
"http://www.ncbi.nlm.nih.gov/pubmed/24205503",
"http://www.ncbi.nlm.nih.gov/pubmed/24101370",
"http://www.ncbi.nlm.nih.gov/pubmed/24196483",
"http://www.ncbi.nlm.nih.gov/pubmed/24044569",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014556",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D055354"
] |
55435a46ed966d112c000006 | summary | What is the role of lysine-specific demethylase 1 (LSD1) in hematopoiesis? | [
"LSD1 represents a central regulator of hematopoietic stem and progenitor cells. LSD1 knockdown (LSD1-kd) expanded progenitor numbers by enhancing their proliferative behavior. LSD1-kd led to an extensive expansion of granulomonocytic, erythroid and megakaryocytic progenitors. In contrast, terminal granulopoiesis, ... | [] | [
"Histone lysine-specific demethylase 1 (LSD1) protein is involved in Sal-like protein 4 (SALL4)-mediated transcriptional repression in hematopoietic stem cells",
"we demonstrate that LSD1, a histone lysine demethylase, also participates in the trans-repressive effects of SALL4. Based on luciferase assays, the ami... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19497860",
"http://www.ncbi.nlm.nih.gov/pubmed/22699452",
"http://www.ncbi.nlm.nih.gov/pubmed/19736520",
"http://www.ncbi.nlm.nih.gov/pubmed/22801375",
"http://www.ncbi.nlm.nih.gov/pubmed/22310283",
"http://www.ncbi.nlm.nih.gov/pubmed/17707228",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033193"
] |
52bf1f4503868f1b06000016 | list | For the treatment of which conditions can atypical neuroleptic drugs be used? | [
"Atypical neuroloeptic drugs are antipsychotics used in patients with schizophrenia, schizoaffective disorder, delusional disorder, psychotic disorders, psychotic relapse in neuroleptic malignant syndrome and attention deficit hyperactivity disorder when presenting with negativism and conduct disorder."
] | [
"schizophrenia",
"schizophrenia psychosis",
"schizoaffective disorder",
"delusional disorder",
"psychotic relapse in neuroleptic malignant syndrome",
"attention deficit hyperactivity disorder (ADHD) with negativism or conduct disorders",
"psychotic disorders"
] | [
"Further clinical implications are described (capability of learning the therapeutic strategies, deliverability in broader clinical settings, acceptability by patients, combination with atypical neuroleptic drugs,and treatment of choice in risk populations).",
"Intervention strategies are a multimodal psychologic... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16625511",
"http://www.ncbi.nlm.nih.gov/pubmed/10440458",
"http://www.ncbi.nlm.nih.gov/pubmed/16047503",
"http://www.ncbi.nlm.nih.gov/pubmed/11533860",
"http://www.ncbi.nlm.nih.gov/pubmed/7952245",
"http://www.ncbi.nlm.nih.gov/pubmed/8891947",
"http://www.ncbi.nlm.nih... | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A8360847",
"o": "94.23"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A17351788",
"o": "Neuroleptic therapy"
},
... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016320",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014150",
"http://www.nlm.nih.gov/cgi/mesh/2... |
52eeddfcc8da898910000010 | list | Which are the characteristics of Andersen syndrome? | [
"the characteristics of Andersen syndrome are abnormal QT-U complex, ventricular arrhythmia, periodic paralysis, and facial and skeletal dysmorphisms"
] | [
"abnormal QT-U complex",
"ventricular arrhythmia",
"periodic paralysis",
"facial dysmorphisms",
"skeletal dysmorphisms"
] | [
"Mutations of KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features.",
"Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the distin... | [
"http://www.ncbi.nlm.nih.gov/pubmed/12689820",
"http://www.ncbi.nlm.nih.gov/pubmed/15176430",
"http://www.ncbi.nlm.nih.gov/pubmed/20306271",
"http://www.ncbi.nlm.nih.gov/pubmed/15831539",
"http://www.ncbi.nlm.nih.gov/pubmed/22589293",
"http://www.ncbi.nlm.nih.gov/pubmed/17119796",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050030",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011154"
] |
54fc48bb6ea36a810c000002 | summary | How are induced pluripotent stem cells used in the study and treatment of cardiovascular diseases? | [
"The major goal within the field of cardiovascular regenerative medicine is to replace lost or damaged cardiac muscle and coronaries following ischaemic disease. At present, de novo cardiomyocytes can be generated either in vitro, using directed differentiation of embryonic stem cells or induced pluripotent stem ce... | [] | [
"iPSC technology holds tremendous promises for therapeutic cardiovascular regeneration because of the cells' unlimited capacity for proliferation and differentiation into all cell lineages.",
"The iPSCs can be generated from somatic cells of patients with a genetic basis for their disease so as to understand the ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21919874",
"http://www.ncbi.nlm.nih.gov/pubmed/23819949",
"http://www.ncbi.nlm.nih.gov/pubmed/23292032",
"http://www.ncbi.nlm.nih.gov/pubmed/22917225",
"http://www.ncbi.nlm.nih.gov/pubmed/21569778",
"http://www.ncbi.nlm.nih.gov/pubmed/23896987",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D057026",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D039904",
"http://www.disease-ontology.org/api/metadata/DOID:2348",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Ex... |
5519110f622b19434500000c | factoid | Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome? | [
"Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or... | [
"Craniosynostosis"
] | [
"Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR).",
"Goldberg-Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects.",
"Thus, o... | [
"http://www.ncbi.nlm.nih.gov/pubmed/12878302",
"http://www.ncbi.nlm.nih.gov/pubmed/7573130",
"http://www.ncbi.nlm.nih.gov/pubmed/7573131",
"http://www.ncbi.nlm.nih.gov/pubmed/18192286",
"http://www.ncbi.nlm.nih.gov/pubmed/23023332",
"http://www.ncbi.nlm.nih.gov/pubmed/1785632",
"http://www.ncbi.nlm.nih.... | [] | [] |
54ff45966ad7dcbc12000010 | factoid | Which protein is causing Netherton syndrome? | [
"Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the gene SPINK5 (serine protease inhibitor Kazal type 5) which encodes for a serine protease inhibitor LEKTI (lymphoepithelial Kazal type-related inhibitor)"
] | [
"LEKTI",
"lymphoepithelial Kazal type-related inhibitor"
] | [
"Netherton syndrome (NTS) is a rare genetic skin disease caused by mutations in the serine protease inhibitor Kazal-type 5 gene, which encodes the lympho-epithelial Kazal-type-related inhibitor.",
"Netherton syndrome is caused by loss-of-function mutations in SPINK5 encoding the Kazal-type inhibitor LEKTI-1 ",
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23344365",
"http://www.ncbi.nlm.nih.gov/pubmed/24015757",
"http://www.ncbi.nlm.nih.gov/pubmed/24292773",
"http://www.ncbi.nlm.nih.gov/pubmed/21697885",
"http://www.ncbi.nlm.nih.gov/pubmed/21895535",
"http://www.ncbi.nlm.nih.gov/pubmed/24138501",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseasome/associatedGene",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/3345",
"o": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/genes/SPINK5"
},
{
"p": "http://www.w3.org/2004/02/skos/core#exactMatch",
"s... | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056770",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577",
"http://www.disease-ontology.org/api/metadata/DOID:0050474",
"http://www.disease-ontology.org/api/metadata/DOID:225"
] |
56f56a8609dd18d46b00000b | list | Mutations in which gene and which protein are associated with Netherton syndrome? | [
"NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial tissues."
] | [
"SPINK5 gene",
"LEKTI protein"
] | [
"NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial tissues.",
"Recently, we identified SPINK5, which encodes the serine protease inhibitor Kazal-type 5 protein (LEKTI), as the defective gene in... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22377713",
"http://www.ncbi.nlm.nih.gov/pubmed/17608759",
"http://www.ncbi.nlm.nih.gov/pubmed/10835624",
"http://www.ncbi.nlm.nih.gov/pubmed/19438860",
"http://www.ncbi.nlm.nih.gov/pubmed/11841556",
"http://www.ncbi.nlm.nih.gov/pubmed/16307658",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056770"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.