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 |
|---|---|---|---|---|---|---|---|---|
516e5f41298dcd4e5100007f | factoid | What is the genetic basis of Rubinstein-Taybi syndrome? | [
"Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are a microdeletion at 16p13... | [
"Mutations or/and deletions in the genes of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) at 22q13 (5%)."
] | [
"The Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial abnormalities, broad thumbs, broad big toes and mental retardation as the main clinical features",
"Many patients with RTS have been shown to have breakpoints in, and microdeletions of, chromosome 16p13.3",
"these breakpoints are restri... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23432975",
"http://www.ncbi.nlm.nih.gov/pubmed/16359492",
"http://www.ncbi.nlm.nih.gov/pubmed/15706485",
"http://www.ncbi.nlm.nih.gov/pubmed/20684013",
"http://www.ncbi.nlm.nih.gov/pubmed/18773673",
"http://www.ncbi.nlm.nih.gov/pubmed/22303793",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:1933"
] |
511a51331159fa8212000009 | summary | What is the function of the viral KP4 protein? | [
"The virally encoded fungal toxin KP4 specifically blocks L-type voltage-gated calcium channels."
] | [] | [
"antifungal protein KP4",
"Killer protein 4 (KP4) is a well studied viral toxin secreted by the maize smut fungus Ustilago maydis that kills sensitive Ustilago strains as well as inhibits Fusarium and plant root growth by inhibiting calcium uptake.",
"Our previous work on a virally encoded fungal toxin, KP4, fr... | [
"http://www.ncbi.nlm.nih.gov/pubmed/7582897",
"http://www.ncbi.nlm.nih.gov/pubmed/11901234",
"http://www.ncbi.nlm.nih.gov/pubmed/21116630",
"http://www.ncbi.nlm.nih.gov/pubmed/7966296",
"http://www.ncbi.nlm.nih.gov/pubmed/10748529",
"http://www.ncbi.nlm.nih.gov/pubmed/8145639",
"http://www.ncbi.nlm.nih.... | [] | [
"http://www.biosemantics.org/jochem#4265993",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014764",
"http://www.uniprot.org/uniprot/KP4T_UMV4"
] |
56ed27012ac5ed145900000b | factoid | What is the function of the AIRE gene at the embryonic stage? | [
"Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells. Aire and Deaf1 help regulate the ectopic expression of diverse tissue-specific antigens to establish self-immune tolerance. Knockdown of Aire in mouse ESCs resulted in significantly decreased clone-forming e... | [
"stem cell renewal and self-immune tolerance"
] | [
"Autoimmune regulator (Aire) is one of the most well-characterized molecules in autoimmunity, but its function outside the immune system is largely unknown. The recent discovery of Aire expression in stem cells and early embryonic cells and its function in the self-renewal of embryonic stem (ES) cells highlight the... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21952165",
"http://www.ncbi.nlm.nih.gov/pubmed/19302042",
"http://www.ncbi.nlm.nih.gov/pubmed/19008896",
"http://www.ncbi.nlm.nih.gov/pubmed/20226168",
"http://www.ncbi.nlm.nih.gov/pubmed/22540148"
] | [] | [] |
533c388dc45e133714000008 | summary | What is the principle of the PAR-CLIP methodology? | [
"In particular, PAR-CLIP utilizes a photoactivatable nucleoside for more efficient crosslinking. A recent method, PAR-CLIP, uses photoreactive nucleosides to crosslink RBPs to target RNAs in cells prior to immunoprecipitation. One characteristic feature of cDNA libraries prepared by PAR-CliP is that the precise p... | [] | [
"We developed a cell-based crosslinking approach to determine at high resolution and transcriptome-wide the binding sites of cellular RBPs and miRNPs.",
"To gain insight into the complexity of snoRNA processing and the functional relevance of snoRNA-derived small RNAs, we sequence long and short RNAs, small RNAs ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22152485",
"http://www.ncbi.nlm.nih.gov/pubmed/21816340",
"http://www.ncbi.nlm.nih.gov/pubmed/21851591",
"http://www.ncbi.nlm.nih.gov/pubmed/20371350",
"http://www.ncbi.nlm.nih.gov/pubmed/22213601",
"http://www.ncbi.nlm.nih.gov/pubmed/21559008",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008722"
] |
518cb4b5310faafe08000006 | list | Which drugs are utilized to treat amiodarone-induced thyroitoxicosis? | [
"Amiodarone-induced thyrotoxicosis treatment includes anti-thyroid drugs and steroid therapy\nRadio Iodine Treatment (RIT) may be a safe and useful method of AIT therapy in patients with low RAIU, in whom other treatment methods are contraindicated.\nLithium is a useful and safe medication for treatment of iodine-i... | [
"Antithyroid drugs",
"Corticosteroids",
"Lithium",
"Radioiodine"
] | [
"good response to anti-thyroid drugs and steroid therapy",
"The disease course of amiodarone-induced thyrotoxicosis is usually benign and remits with timely administration of anti-thyroid medications, with or without corticosteroids.",
"RIT may be a safe and useful method of AIT therapy in patients with low RAI... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16910349",
"http://www.ncbi.nlm.nih.gov/pubmed/2781955",
"http://www.ncbi.nlm.nih.gov/pubmed/19675515",
"http://www.ncbi.nlm.nih.gov/pubmed/9217642",
"http://www.ncbi.nlm.nih.gov/pubmed/12727944",
"http://www.ncbi.nlm.nih.gov/pubmed/16544025",
"http://www.ncbi.nlm.nih... | [] | [] |
56c3323a50c68dd416000009 | summary | How is spastic diplegia diagnosed? | [
"Diagnosis of spastic diplegia is mainly carried out with through clinical gait analysis (CGA), with variations such as 1-minute walk, LSU, and 10-meter walk tests, or Gross Motor Function Measure-88 (GMFM-88). Other methods used for evaluation of patients include brain magnetic resonance imaging (MRI) and motor fu... | [] | [
"Spastic diplegia is the most common form of cerebral palsy worldwide.",
"Hereditary spastic paraplegia (HSP) and spastic diplegia (SD) patients share a strong clinical resemblance. Thus, HSP patients are frequently misdiagnosed with a mild form of SD. Clinical gait analysis (CGA) has been highlighted as a possib... | [
"http://www.ncbi.nlm.nih.gov/pubmed/2816867",
"http://www.ncbi.nlm.nih.gov/pubmed/24901761",
"http://www.ncbi.nlm.nih.gov/pubmed/15157997",
"http://www.ncbi.nlm.nih.gov/pubmed/1743414",
"http://www.ncbi.nlm.nih.gov/pubmed/25276040",
"http://www.ncbi.nlm.nih.gov/pubmed/24409030",
"http://www.ncbi.nlm.nih... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:10965"
] |
52f223e02059c6d71c00000e | factoid | Which is the genetic defect causing Neurofibromatosis type 1? | [
"Neurofibromatosis type 1 (NF1) is due to all types of mutations in the neurofibromin (NF1) gene."
] | [
"Mutation in NF1 gene."
] | [
"Neurofibromatosis type 1 and Noonan syndrome are both common genetic disorders with autosomal dominant inheritance.",
"Molecular analysis showed a missense mutation in exon 25 of the NF1 gene (4288A>G, p.N1430D)",
"Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16835897",
"http://www.ncbi.nlm.nih.gov/pubmed/16323217",
"http://www.ncbi.nlm.nih.gov/pubmed/21567923",
"http://www.ncbi.nlm.nih.gov/pubmed/14722917",
"http://www.ncbi.nlm.nih.gov/pubmed/2129297"
] | [] | [
"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.disease-ontology.org/api/metadata/DOID:0050325",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016514",
"http://www.nlm.nih.g... |
5343caffaeec6fbd07000002 | factoid | Which is the human selenoprotein that contains several Se-Cys residues? | [
"Selenoprotein P, that contains 10 selenocysteines."
] | [
"Selenoprotein P"
] | [
"selenoprotein P and several other selenoproteins are known to contain multiple selenocysteines",
"Sepp1) is a secreted protein that is made up of 2 domains. The larger N-terminal domain contains 1 selenocysteine residue in a redox motif and the smaller C-terminal domain contains the other 9 selenocysteines",
"... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15104205",
"http://www.ncbi.nlm.nih.gov/pubmed/15777501",
"http://www.ncbi.nlm.nih.gov/pubmed/11122377",
"http://www.ncbi.nlm.nih.gov/pubmed/7637580",
"http://www.ncbi.nlm.nih.gov/pubmed/19345254",
"http://www.ncbi.nlm.nih.gov/pubmed/20417644",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.biosemantics.org/jochem#4275372",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017279",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051149",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&ter... |
56a39d60496b62f23f000006 | factoid | Which package is available for analysing genomic interactions in R/Bioconductor? | [
"r3Cseq is an R/Bioconductor package designed to perform 3C-seq data analysis in a number of different experimental designs. The package reads a common aligned read input format, provides data normalization, allows the visualization of candidate interaction regions and detects statistically significant chromatin in... | [
"r3Cseq"
] | [
"r3Cseq: an R/Bioconductor package for the discovery of long-range genomic interactions from chromosome conformation capture and next-generation sequencing data.",
"We present r3Cseq, an R/Bioconductor package designed to perform 3C-seq data analysis in a number of different experimental designs. The package read... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23671339"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D023281",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016678",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009693"
] |
5150b807d24251bc05000072 | factoid | How many clinical trials for off-label drugs in neonates are cited in the literature. | [
"There are no reports on clinical trials of off-label drugs in neonates. An analysis of Pediatric Investigation Plans submitted between 2007 and 2010 shows that neonates were included in the study of 4 products, but it is unknown if the trial drugs are off-label and if the trials are being conducted at all."
] | [
"none",
"0",
"zero"
] | [
"Of the 17 Paediatric Investigation Plans submitted, 14 have resulted in an EMA Decision, 3 were withdrawn by the applicants, 8 were granted a full waiver from development, and 1 resulted in a negative opinion. Decisions as issued included 15 clinical trials, with at least 1,282 children to be recruited into studie... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20821198"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056687",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002986",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017326",
"http://www.nlm.nih.gov/cgi/mesh/2... |
56c81fd15795f9a73e00000c | yesno | Are stress granules involved in the pathogenesis of Amyotrophic Lateral Sclerosis? | [
"Stress granules are cytoplasmic inclusions that repress translation of a subset of RNAs in times of cellular stress, and several proteins implicated in neurodegeneration (i.e. Ataxin-2 and SMN) interact with stress granules. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granu... | [
"yes"
] | [
"SGs have been linked to several pathologies including inflammatory diseases, cancer, viral infection, and neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).",
"Like several other ALS-associated proteins, CREST is recruited to induced stress granules.",
"Ou... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23474818",
"http://www.ncbi.nlm.nih.gov/pubmed/24297750",
"http://www.ncbi.nlm.nih.gov/pubmed/24013423",
"http://www.ncbi.nlm.nih.gov/pubmed/23257289",
"http://www.ncbi.nlm.nih.gov/pubmed/24312274",
"http://www.ncbi.nlm.nih.gov/pubmed/23629963",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/amigo/term/GO:0034063",
"http://www.disease-ontology.org/api/metadata/DOID:332",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000690",
"http://amigo.geneontology.org/amigo/term/GO:0097165",
"http://amigo.geneontology.org/amigo/term/GO:0035... |
52f5083d2059c6d71c00001e | yesno | Does TGF-beta play a role in cardiac regeneration after myocardial infarction? | [
"TGFβ signaling orchestrates the beneficial interplay between scar-based repair and cardiomyocyte-based regeneration to achieve complete heart regeneration."
] | [
"yes"
] | [
"We then performed a chemical screen and identified several small molecules that increase or reduce cardiomyocyte proliferation during heart development. These compounds act via Hedgehog, Insulin-like growth factor or Transforming growth factor β signaling pathways. ",
"Here, we report that the balance between th... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22513374",
"http://www.ncbi.nlm.nih.gov/pubmed/12374778",
"http://www.ncbi.nlm.nih.gov/pubmed/23293297",
"http://www.ncbi.nlm.nih.gov/pubmed/17322368",
"http://www.ncbi.nlm.nih.gov/pubmed/19966054",
"http://www.ncbi.nlm.nih.gov/pubmed/18985280",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016212",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009203",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012038"
] |
56cf413f3975bb303a000009 | summary | Is there a genetic component for happiness? | [
"Results of studies on genetic factors indicated an average effectiveness of genetic about 35 -50 percent on happiness. The MAOA gene predicts happiness in women. The heritability of happiness was estimated at 22% for males and 41% in females."
] | [] | [
"inally, a systematic review performed based on existing information. Results of studies on genetic factors indicated an average effectiveness of genetic about 35 -50 percent on happiness. ",
"The MAOA gene predicts happiness in women.",
"Although twin studies estimate that genetic factors account for 35-50% of... | [
"http://www.ncbi.nlm.nih.gov/pubmed/26060713",
"http://www.ncbi.nlm.nih.gov/pubmed/19728071",
"http://www.ncbi.nlm.nih.gov/pubmed/24690898",
"http://www.ncbi.nlm.nih.gov/pubmed/23769682",
"http://www.ncbi.nlm.nih.gov/pubmed/20981772",
"http://www.ncbi.nlm.nih.gov/pubmed/20397744",
"http://www.ncbi.nlm.n... | [] | [] |
56c1d857ef6e394741000033 | factoid | What enzyme is inhibied by Opicapone? | [
"Opicapone is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease"
] | [
"catechol-O-methyltransferase"
] | [
"PURPOSE: Opicapone (OPC) is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease. ",
"Brain and peripheral pharmacokinetics of levodopa in the cynomolgus monkey following administration of opicapone, a third generation nitroc... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24271646",
"http://www.ncbi.nlm.nih.gov/pubmed/23336248",
"http://www.ncbi.nlm.nih.gov/pubmed/24148813",
"http://www.ncbi.nlm.nih.gov/pubmed/23248072",
"http://www.ncbi.nlm.nih.gov/pubmed/24925090"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004791"
] |
5140569623fec90375000003 | summary | What kind of affinity purification would you use in order to isolate soluble lysosomal proteins? | [
"The rationale for purification of the soluble lysosomal proteins resides in their characteristic sugar, the mannose-6-phosphate (M6P), which allows an easy purification by affinity chromatography on immobilized M6P receptors."
] | [] | [
"Most luminal lysosomal proteins are synthesized as precursors containing mannose 6-phosphate (Man6-P) and a number of recent studies have conducted affinity purification of Man6-P containing proteins as a step toward defining the composition of the lysosome",
"This chapter describes the process of production, pu... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18977398",
"http://www.ncbi.nlm.nih.gov/pubmed/16709564",
"http://www.ncbi.nlm.nih.gov/pubmed/18507433",
"http://www.ncbi.nlm.nih.gov/pubmed/17258946",
"http://www.ncbi.nlm.nih.gov/pubmed/18370023",
"http://www.ncbi.nlm.nih.gov/pubmed/16145712",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000345",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008247",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0005764",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=ui... |
552faa43bc4f83e828000004 | list | Which are the genes thought to be regulated by EWS/FLI? | [
"The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor. EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of a significant number of genes are affected in Ewing sarcoma, so... | [
"BCL11B",
"NRoB1",
"GSTM4",
"NKX2.2",
"p53"
] | [
"BCL11B is up-regulated by EWS/FLI and contributes to the transformed phenotype in Ewing sarcoma",
"EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of thousands of genes are affected in Ewing sarcoma, however, it is unknown which of the... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19718047",
"http://www.ncbi.nlm.nih.gov/pubmed/16697960",
"http://www.ncbi.nlm.nih.gov/pubmed/18927503",
"http://www.ncbi.nlm.nih.gov/pubmed/15492248",
"http://www.ncbi.nlm.nih.gov/pubmed/17114343",
"http://www.ncbi.nlm.nih.gov/pubmed/23527175",
"http://www.ncbi.nlm.n... | [] | [] |
52fe58f82059c6d71c00007a | factoid | Do archaeal genomes contain one or multiple origins of replication? | [
"Some archaea replicate from single origins but most archaea and all eukaryotes replicate using multiple origins.",
"Multiple functional sites of origin of replication may exist in the genomes of most archaea. This has only been demonstrated recently. Two studies have shown that multiple origins of replication fu... | [
"mostly multiple",
"Multiple"
] | [
"Therefore, these lines of evidence strongly suggest that the identified region is a replication origin, which is designated as oriC1. The analysis of the y component of the Z curve, i.e., MK disparity curve, suggests the presence of another replication origin corresponding to one of the peaks in the MK disparity c... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15197606",
"http://www.ncbi.nlm.nih.gov/pubmed/20850498",
"http://www.ncbi.nlm.nih.gov/pubmed/16249118",
"http://www.ncbi.nlm.nih.gov/pubmed/2541880",
"http://www.ncbi.nlm.nih.gov/pubmed/16321966",
"http://www.ncbi.nlm.nih.gov/pubmed/24185008",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004261",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006270",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006260",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+... |
533c3af6c45e13371400000d | list | Which pathological conditions are caused by mutations in the CYLD gene? | [
"Since loss of CYLD expression can be observed in different types of human cancer, it is now well established that CYLD acts as a tumor suppressor gene. Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepitheliom... | [
"Brooke-Spiegler syndrome",
"BSS",
"Cylindromatosis",
"Multiple Familial Trichoepithelioma",
"MFT"
] | [
"We detected a frameshift mutation in the CYLD gene, designated 2253delG, underlying the disorder and were able to show that a single mutation can result in distinct clinical and histologic expression in familial cylindromatosis.",
"Previously, a candidate MTF locus has been mapped to 9p21 while disease gene for ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16922728",
"http://www.ncbi.nlm.nih.gov/pubmed/23426135",
"http://www.ncbi.nlm.nih.gov/pubmed/20132422",
"http://www.ncbi.nlm.nih.gov/pubmed/12190880",
"http://www.ncbi.nlm.nih.gov/pubmed/19730223",
"http://www.ncbi.nlm.nih.gov/pubmed/18806492",
"http://www.ncbi.nlm.n... | [] | [
"http://www.uniprot.org/uniprot/CYLD_BOVIN",
"http://www.uniprot.org/uniprot/CYLD_RAT",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005796",
"http://www.uniprot.org/uniprot/CYLD_MOUSE",
"http://www.disease-ontology.org/api/metadata/DOID:4",
"http://www.nlm.nih.gov/cg... |
56c5fd325795f9a73e000005 | factoid | Which is the genetic basis of Spinal Muscular Atrophy (SMA)? | [
"The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1). Mutations of the SMN1 gene are responsible for SMA. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal mus... | [
"The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1)"
] | [
"Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many families remains unknown.",
"We report clinical, electrophysiology, muscle magnetic resonance... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19062530",
"http://www.ncbi.nlm.nih.gov/pubmed/22628388",
"http://www.ncbi.nlm.nih.gov/pubmed/11442327",
"http://www.ncbi.nlm.nih.gov/pubmed/9731538",
"http://www.ncbi.nlm.nih.gov/pubmed/12115944",
"http://www.ncbi.nlm.nih.gov/pubmed/12220455",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009133",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009134",
"http://www.disease-ontology.org/api/metadata/DOID:767",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exa... |
571f3b320fd6f91b68000007 | list | Which are the common symptoms of Cushing's syndrome? | [
"Cushing syndrome is the constellation of signs and symptoms caused by protracted exposure to glucocorticoids. Presenting features commonly include weight gain, growth retardation, hirsutism, obesity, striae, acne and hypertension."
] | [
"weight gain",
"growth retardation",
"hirsutism",
"obesity",
"striae",
"acne",
"hypertension"
] | [
"Cushing syndrome is the constellation of signs and symptoms caused by protracted exposure to glucocorticoids. The most common cause of Cushing syndrome in children and adolescents is exogenous administration of glucocorticoids. Presenting features commonly include weight gain, growth retardation, hirsutism, obesit... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24062268",
"http://www.ncbi.nlm.nih.gov/pubmed/17322955"
] | [] | [] |
5319ac99b166e2b806000034 | factoid | Which is the third subunit of the TSC1-TSC2 complex upstream of mTORC1? | [
"TBC1D7 was identified as a stably associated and ubiquitous third core subunit of the TSC1-TSC2 complex. It was demonstrated that TSC1-TSC2-TBC1D7 (TSC-TBC) is the functional complex that senses specific cellular growth conditions and possesses Rheb-GAP activity to negatively regulate mTORC1 activity. In agreement... | [
"TBC1D7"
] | [
"The tuberous sclerosis complex (TSC) tumor suppressors form the TSC1-TSC2 complex, which limits cell growth in response to poor growth conditions. Through its GTPase-activating protein (GAP) activity toward Rheb, this complex inhibits the mechanistic target of rapamycin (mTOR) complex 1 (mTORC1), a key promoter of... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22795129"
] | [] | [
"http://www.uniprot.org/uniprot/TSC1_HUMAN",
"http://www.biosemantics.org/jochem#4266396",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033596",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031931",
"http://www.uniprot.org/uniprot/TSC2_HUMAN"
] |
54f89e1a06d9727f76000001 | factoid | Which kinase is inhibited by the small molecule KN-93? | [
"The calcium/calmodulin-dependent protein kinase-II (CaMK-II) is inhibited by the small molecule KN-93. KN-93 is a membrane-permeant calcium/calmodulin- dependent kinase II (CaMK-II)-selective inhibitor"
] | [
"The calcium/calmodulin-dependent protein kinase-II",
"CaM kinase II",
"CAMK2"
] | [
"KN-93, a membrane-permeant calcium/calmodulin- dependent kinase-selective inhibitor, induces apoptosis in some lines of human tumor cells.",
"Knockdown of βCaMKII by lentiviral-mediated expression of shRNA prevented the synaptic inactivity-induced increase in GluA1, as did treatment with the CaM kinase inhibitor... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17457979",
"http://www.ncbi.nlm.nih.gov/pubmed/16896952",
"http://www.ncbi.nlm.nih.gov/pubmed/14749212",
"http://www.ncbi.nlm.nih.gov/pubmed/9864285",
"http://www.ncbi.nlm.nih.gov/pubmed/15569687",
"http://www.ncbi.nlm.nih.gov/pubmed/22290426",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.biosemantics.org/jochem#4263678",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007266"
] |
5357bd56f1005d6b58000009 | summary | What is the effect of Chk2 splice variants on wild-type Chk2 kinase activity? | [
"Chk2 splice variants have been demonstrated to exert a dominant-negative effect on wild-type Chk2 kinase activity."
] | [] | [
"Chk2 splice variants express a dominant-negative effect on the wild-type Chk2 kinase activity",
"Here we evaluated the function of four Chk2 splice proteins for which mRNA splice variants were identified in human breast carcinomas. These splice variants were stably expressed as nuclear proteins. Two splice forms... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20080130"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064447",
"http://www.uniprot.org/uniprot/CHK2_HUMAN",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043549",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008380",
"http://www.nlm.nih... |
54d65b6b3706e8952800000c | list | List genes that have been found mutated in CMT1A (Charcot-Marie-Tooth disease type 1 A). | [
"PMP22 is the common gene found mutated through a duplication in CMT1A. Other genes are\nMPZ and SH3TC2"
] | [
"PMP22",
"MPZ",
"SH3TC2"
] | [
"Most cases of CMT are caused by mutations in PMP22,",
" structural myelin protein PMP22",
"Duplication of the gene encoding the peripheral myelin protein of 22 kDa (PMP22) underlies the most common inherited neuropathy, Charcot-Marie-Tooth 1A (CMT1A), a disease without a known cure.",
". Two patients showed ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25522693",
"http://www.ncbi.nlm.nih.gov/pubmed/25430934",
"http://www.ncbi.nlm.nih.gov/pubmed/24819634",
"http://www.ncbi.nlm.nih.gov/pubmed/25500726",
"http://www.ncbi.nlm.nih.gov/pubmed/25400662",
"http://www.ncbi.nlm.nih.gov/pubmed/25385046",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:10595",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002607"
] |
517a8c918ed59a060a000043 | list | Which viruses are best known to cause myocarditis? | [
"The most frequent viruses causing myocarditis are Enterovirus, Adenovirus and Coxsackie B viruses."
] | [
"Enterovirus",
"Adenovirus",
"Coxsackie B virus"
] | [
"Enteroviruses (EV) are an important cause of neonatal disease including hepatitis, meningoencephalitis, and myocarditis that can lead to death or severe long-term sequelae",
"Enteroviruses have been considered to be the most common cause of acute myocarditis and possible consequence of dilated cardiomyopathy.",
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18039618",
"http://www.ncbi.nlm.nih.gov/pubmed/18277927",
"http://www.ncbi.nlm.nih.gov/pubmed/2641165",
"http://www.ncbi.nlm.nih.gov/pubmed/14993139",
"http://www.ncbi.nlm.nih.gov/pubmed/3889351",
"http://www.ncbi.nlm.nih.gov/pubmed/8199011"
] | [] | [] |
571f2b5bbb137a4b0c000010 | list | Which genes have been associated with Cerebral Cavernous Malformation? | [
"Loss-of-function mutations in genes encoding CCM1 (also known as KRIT1), CCM2 (also known as OSM and malcavernin) or CCM3 (also known as PDCD10) cause cerebral cavernous malformations (CCMs)."
] | [
"CCM1/KRIT1",
"CCM2/OSM/Malcavernin",
"CCM3/PDCD10"
] | [
"Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene",
"we outline a consistent association between PDCD10 mutations and a syndrome of CCMs with multiple meningiomas",
"Cerebral cavernous malformation (CCM) is a disease of vascular malformation... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25122144",
"http://www.ncbi.nlm.nih.gov/pubmed/24287896",
"http://www.ncbi.nlm.nih.gov/pubmed/20592472",
"http://www.ncbi.nlm.nih.gov/pubmed/24466005",
"http://www.ncbi.nlm.nih.gov/pubmed/16100539",
"http://www.ncbi.nlm.nih.gov/pubmed/24481819",
"http://www.ncbi.nlm.n... | [] | [] |
52fb4b462059c6d71c00005f | yesno | Is DITPA a thyroid hormone analog utilized in experimental and clinical studies | [
"There is very large body of evidence that DITPA is a true thyroid hormone analog, largely utilized in experimental and clinical studies."
] | [
"yes"
] | [
"DITPA normalized the elevated serum T(3) and TSH when the dose reached 1 mg/kg · d and T(4) and rT(3) increased to the lower normal range.",
"The identification of 3,5-diiodothyropropionic acid (DITPA) that binds to both α- and β-type TRs with relatively low affinity was unique in that this analog improves left ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18954857",
"http://www.ncbi.nlm.nih.gov/pubmed/10749704",
"http://www.ncbi.nlm.nih.gov/pubmed/15072976",
"http://www.ncbi.nlm.nih.gov/pubmed/21658725",
"http://www.ncbi.nlm.nih.gov/pubmed/19506112",
"http://www.ncbi.nlm.nih.gov/pubmed/9618233",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013963",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D037042",
"http://www.biosemantics.org/jochem#4021241",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&ter... |
56c1d848ef6e39474100002f | summary | What is Tarlov Cyst? | [
"Tarlov or perineural cysts are nerve root cysts found most commonly at the sacral spine level arising between covering layers of the perineurium and the endoneurium near the dorsal root ganglion and are usually asymptomatic."
] | [] | [
"She underwent ultrasound, CT, and eventually MRI evaluations that led to the diagnosis of a giant (6.7 × 6.4 × 6.6 cm) Tarlov cyst originating from the right S-2 nerve root sleeve/sacral foramen with intrapelvic extension.",
"We report here a case of multiloculated disseminated perineural or Tarlov cysts (TCs). ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20712856",
"http://www.ncbi.nlm.nih.gov/pubmed/21830055",
"http://www.ncbi.nlm.nih.gov/pubmed/21139800",
"http://www.ncbi.nlm.nih.gov/pubmed/25191117",
"http://www.ncbi.nlm.nih.gov/pubmed/19110185",
"http://www.ncbi.nlm.nih.gov/pubmed/11453427",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D052958"
] |
571e275dbb137a4b0c000005 | factoid | What are 'vildagliptin', 'sitagliptin', 'saxagliptin', 'alogliptin', 'linagliptin', and 'dutogliptin'? | [
"\"Sitagliptin,\" \"vildagliptin,\" \"saxagliptin,\" \"alogliptin,\" \"linagliptin,\" and \"dutogliptin\" are dipeptidyl peptidase-4 (DPP-4) inhibitors."
] | [
"dipeptidyl peptidase-4 (DPP-4) inhibitors"
] | [
"The present metaanalysis was designed to assess the effect of DPP-4 inhibitors on blood lipids, verifying possible differences across compounds of this class.METHODS: An extensive search of Medline and the Cochrane Library (any date up to December 31, 2010, restricted to randomized clinical trials, published in En... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21431099",
"http://www.ncbi.nlm.nih.gov/pubmed/21320267",
"http://www.ncbi.nlm.nih.gov/pubmed/24320733",
"http://www.ncbi.nlm.nih.gov/pubmed/22215383",
"http://www.ncbi.nlm.nih.gov/pubmed/23140189",
"http://www.ncbi.nlm.nih.gov/pubmed/22686547",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4243818",
"http://www.biosemantics.org/jochem#4243458",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018819",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D054873",
"http://www.biosemantics.org/joc... |
51739df58ed59a060a00001c | factoid | Which is the most important prognosis sub-classification in Chronic Lymphocytic Leukemia? | [
"The mutational status of the immunoglobulin heavy variable (IGHV) genes, defines two subsets: mutated and unmutated CLL. Unmutated CLL patients show a shorter progression-free and overall survival than mutated CLL patients."
] | [
"The mutational status of the IGHV genes."
] | [
"One of the most reliable prognostic markers in chronic lymphocytic leukemia (CLL) is the mutational status of immunoglobulin heavy variable (IGHV) genes, which defines 2 subsets, mutated CLL (M-CLL) and unmutated CLL (U-CLL), with different clinical courses.",
"Mutational status of the immunoglobulin heavy chain... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22560084",
"http://www.ncbi.nlm.nih.gov/pubmed/16083281",
"http://www.ncbi.nlm.nih.gov/pubmed/23468975",
"http://www.ncbi.nlm.nih.gov/pubmed/20353875",
"http://www.ncbi.nlm.nih.gov/pubmed/16014569",
"http://www.ncbi.nlm.nih.gov/pubmed/20090781",
"http://www.ncbi.nlm.n... | [] | [] |
5168023b298dcd4e51000061 | yesno | Is MammaPrint cleared by the United States Food and Drug Administration? | [
"Yes. MammaPrint is cleared by the FDA for breast cancer recurrence."
] | [
"yes"
] | [
"Real-time RT-PCR confirmed the 5-gene prognostic signature that was distinct from an FDA-cleared 70-gene signature of MammaPrint panel and from the Oncotype DX recurrence score assay panel."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/19506735",
"http://www.ncbi.nlm.nih.gov/pubmed/21479927",
"http://www.ncbi.nlm.nih.gov/pubmed/18786252"
] | [
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A17680439",
"o": "MammaPrint"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#prefLabel",
"s": "http://linkedlifedata.com/resource/umls/id/C2827401",
"o": "http://linkedlifedata.com/r... | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017322",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017321",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017327",
"http://www.nlm.nih.gov/cgi/mesh/2... |
530f7cdde3eabad021000001 | yesno | Is amantadine effective for treatment of disorders conciousness? | [
"Amantadine, a dopaminergic agent, has been shown to be effective for induction of recovery from disorders of consciousness. Amantadine is a commonly prescribed medication for patients with prolonged disorders of consciousness after traumatic brain injury. Amantadine accelerates the pace of functional recovery duri... | [
"yes"
] | [
"We here provide a systematic overview of the therapeutic effects of amantadine, apomorphine and zolpidem in patients recovering from coma. Evidence from clinical trials using these commonly prescribed pharmacological agents suggests positive changes in the neurological status in patients, leading sometimes to dram... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15759228",
"http://www.ncbi.nlm.nih.gov/pubmed/19894299",
"http://www.ncbi.nlm.nih.gov/pubmed/20129511",
"http://www.ncbi.nlm.nih.gov/pubmed/18540467",
"http://www.ncbi.nlm.nih.gov/pubmed/20658796",
"http://www.ncbi.nlm.nih.gov/pubmed/22375973",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003244",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000547",
"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/2... |
56e857ae42442bac75000004 | factoid | What is needed for MMP proteins to be functional? | [
"Extracellular matrix metalloproteinases (MMPs) are a family of zinc-dependent neutral endopeptidases."
] | [
"zinc"
] | [
"matrix metalloproteinase (MMP)-9",
"matrix metalloproteinase-3 (MMP-3) gene ",
"matrix metalloproteinases (MMPs)",
"Matrix metalloproteinase-9 (MMP-9) is a secreted glycoprotein with a major role in shaping the extracellular matrix and a detailed understanding of the secretory mechanism could help identify m... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25360794",
"http://www.ncbi.nlm.nih.gov/pubmed/24570026",
"http://www.ncbi.nlm.nih.gov/pubmed/26013370",
"http://www.ncbi.nlm.nih.gov/pubmed/23001203",
"http://www.ncbi.nlm.nih.gov/pubmed/26087627",
"http://www.ncbi.nlm.nih.gov/pubmed/26150355",
"http://www.ncbi.nlm.n... | [] | [] |
5509c52f1180f13250000004 | factoid | What is hyperosmia | [
"Hyperosmia is increased olfactory acuity ",
"increased olfactory acuity"
] | [
"increased olfactory acuity"
] | [
"Hyperosmia is suspected in pregnancy; however, no empirical study using validated measures of olfactory function has clearly confirmed the anecdotal reports of this phenomenon.",
"subjective hyperosmia is associated with primarily negative odor-related experiences.",
"Hyperosmia is increased olfactory acuity"
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24302690",
"http://www.ncbi.nlm.nih.gov/pubmed/21250223",
"http://www.ncbi.nlm.nih.gov/pubmed/23520356"
] | [] | [] |
535d2cf09a4572de6f000004 | factoid | What is the number of long non coding RNAs in the human genome | [
"Different estimates put currently the number of human long non coding RNAs between 10,000 and 20,000"
] | [
"between 10,000 and 20,000"
] | [
"The recent ENCODE (Encyclopedia of DNA Elements) study reported 9,640 lncRNA loci in the human genome, which corresponds to around half the number of protein-coding genes. ",
"Over 18,000 transcripts are presently annotated as lncRNA, and encompass previously annotated classes of noncoding transcripts including ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23126680",
"http://www.ncbi.nlm.nih.gov/pubmed/23846593"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015894",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085"
] |
55475dc2f35db75526000001 | factoid | Which is the most known bacterium responsible for botulism (sausage-poisoning)? | [
"Botulism is a severe neuroparalytic disease caused by botulinum neurotoxin (BoNT), and affects humans, all warm-blooded animals, birds, and some fishes. Botulinum toxin is produced under anaerobic conditions by the bacterium Clostridium botulinum, which is the most known etiological agent of the disease, and some ... | [
"Clostridium botulinum"
] | [
"Botulism is a serious foodborne neuroparalytic disease, caused by botulinum neurotoxin (BoNT), produced by the anaerobic bacterium Clostridium botulinum.",
"Cattle botulism is a fatal intoxication caused by botulinum neurotoxins (BoNTs) produced by Clostridium botulinum serotypes C and D",
"Botulism in horses ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24961027",
"http://www.ncbi.nlm.nih.gov/pubmed/24246230",
"http://www.ncbi.nlm.nih.gov/pubmed/24206405",
"http://www.ncbi.nlm.nih.gov/pubmed/24252222",
"http://www.ncbi.nlm.nih.gov/pubmed/23025151",
"http://www.ncbi.nlm.nih.gov/pubmed/19573697",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:11976"
] |
56c073fcef6e394741000020 | factoid | What is the association of spermidine with α-synuclein neurotoxicity? | [
"Spermidine protects against α-synuclein neurotoxicity. In the fruit fly, simple feeding with spermidine inhibited loss of climbing activity and early organismal death upon heterologous expression of human α-synuclein, which is thought to be the principal toxic trigger of Parkinson's Disease (PD). In this line, adm... | [
"Spermidine protects against α-synuclein neurotoxicity"
] | [
"Spermidine protects against α-synuclein neurotoxicity.",
"Here, we show that administration of the naturally occurring polyamine spermidine, which declines continuously during aging in various species, alleviates a series of PD-related degenerative processes in the fruit fly Drosophila melanogaster and the nemat... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25483063",
"http://www.ncbi.nlm.nih.gov/pubmed/22662273"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013095",
"http://www.biosemantics.org/jochem#4275085",
"http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275085"
] |
550320cbe9bde6963400002d | list | List symptoms of 4H leukodystrophy. | [
"Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are major symptoms of 4H leukodystrophy."
] | [
"hypomyelination",
"hypodontia",
"hypogonadotropic hypogonadism"
] | [
" MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism).",
"4H syndrome is a rare and distinct leukodyst... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24190003",
"http://www.ncbi.nlm.nih.gov/pubmed/18671210",
"http://www.ncbi.nlm.nih.gov/pubmed/23242285",
"http://www.ncbi.nlm.nih.gov/pubmed/22855961",
"http://www.ncbi.nlm.nih.gov/pubmed/21855841",
"http://www.ncbi.nlm.nih.gov/pubmed/23307887",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:10579"
] |
53312464d6d3ac6a3400003a | summary | What is the extracellular core "matrisome"? | [
"The \"matrisome\" is defined as the ensemble of extracellular matrix proteins (ECM) proteins and associated factors. The core matrisome have been defined in mammals through the analysis of whole genome sequences and comprises of ~ 300 proteins."
] | [] | [
"Over 300 ECM molecules have been defined as comprising the \"core matrisome\" in mammals through the analysis of whole genome sequences. ",
"Completion of genome sequences for many organisms allows a reasonably complete definition of the complement of extracellular matrix (ECM) proteins. In mammals this \"core m... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23539364",
"http://www.ncbi.nlm.nih.gov/pubmed/21937732",
"http://www.ncbi.nlm.nih.gov/pubmed/22159717"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576",
"http://www.uniprot.org/uniprot/MATRX_BRSVA",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005109"
] |
56f3f6b12ac5ed145900001a | yesno | Is GAGA associated with nucleosome-free regions (NFR)? | [
"The GAGA factor is a protein known to be involved in the formation and/or maintenance of nucleosome-free regions of chromatin. The interactions of GAGA factor and heat shock factor with their binding sites in chromatin occurred in two modes. Their interaction with binding sites in the nucleosome-free regions did n... | [
"yes"
] | [
"One of the three nuclease hypersensitive sites in the Fab-7 boundary, HS1, contains multiple consensus-binding sequences for the GAGA factor, a protein known to be involved in the formation and/or maintenance of nucleosome-free regions of chromatin.",
"The HS3 sequence contains consensus binding sites for the GA... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15579691",
"http://www.ncbi.nlm.nih.gov/pubmed/8474442",
"http://www.ncbi.nlm.nih.gov/pubmed/11158316",
"http://www.ncbi.nlm.nih.gov/pubmed/7737124"
] | [] | [
"http://amigo.geneontology.org/amigo/term/GO:0034728",
"http://amigo.geneontology.org/amigo/term/GO:0000786",
"http://amigo.geneontology.org/amigo/term/GO:0016584",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009707"
] |
511a4d391159fa8212000003 | list | Which are the plant DNA (cytosine-5) methyltransferase families? | [
"The plant DNA (cytosine-5)methyltransferases are classified into the families: MET, CMT, and the de novo DRM."
] | [
"MET",
"CMT",
"DRM"
] | [
"The topologies of the trees were overall congruent: four monophyletic groups corresponding to the four plant C5-MTase families were clearly distinguished. In addition, sequence analyses of the plant C5-MTase target recognition domain sequences were performed and phylogenetic trees were reconstructed showing that t... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11353082",
"http://www.ncbi.nlm.nih.gov/pubmed/20331964",
"http://www.ncbi.nlm.nih.gov/pubmed/19132393",
"http://www.ncbi.nlm.nih.gov/pubmed/21060858",
"http://www.ncbi.nlm.nih.gov/pubmed/8152926",
"http://www.ncbi.nlm.nih.gov/pubmed/21542302",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004248",
"http://www.uniprot.org/uniprot/CMT1_DICDI"
] |
52fe52702059c6d71c000078 | factoid | Where is the histone variant CENPA preferentially localized? | [
"Centromere protein A (Cenpa for mouse, CENP-A for other species) is an essential histone H3-like protein that localizes to the centromeric region of eukaryotic chromosomes, where it replaces conventional histone H3 and together with centromere-specific-DNA-binding factors directs the assembly of active kinetochore... | [
"Centromeres",
"CENPA is preferentially localized in eukaryotic centromeres"
] | [
"centromere protein A (CENPA),",
"Centromere activity of the alphoid YAC was suppressed at ectopic locations on the host chromosome, as indicated by the absent or reduced assembly of CENP-A and -C.",
"Heterozygous and homozygous Cenpa-GFP fusion-protein mouse mutants, generated through targeted insertion of the... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18314594",
"http://www.ncbi.nlm.nih.gov/pubmed/23439889",
"http://www.ncbi.nlm.nih.gov/pubmed/23562479",
"http://www.ncbi.nlm.nih.gov/pubmed/20940262",
"http://www.ncbi.nlm.nih.gov/pubmed/24213134",
"http://www.ncbi.nlm.nih.gov/pubmed/12906131",
"http://www.ncbi.nlm.n... | [
{
"p": "http://purl.uniprot.org/core/encodedBy",
"s": "http://purl.uniprot.org/uniprot/B5XB04",
"o": "http://linkedlifedata.com/resource/#_423558423034001A"
},
{
"p": "http://www.w3.org/2004/02/skos/core#prefLabel",
"s": "http://linkedlifedata.com/resource/#_423558423034001A",
"o": "CENP... | [
"http://www.uniprot.org/uniprot/CENPA_XENTR",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002503",
"http://www.uniprot.org/uniprot/CENPA_HUMAN",
"http://www.uniprot.org/uniprot/CENPA_CHICK",
"http://www.biosemantics.org/jochem#4278518",
"http://www.uniprot.org/unipro... |
517137c18ed59a060a000001 | list | In which proteins is the chromodomain present? | [
"The chromodomain (chromatin organizer modifier domain) is a highly conserved motif, 40-50 amino acids in length, present in a wide range of animal and plant proteins involved in chromatin organization. Chromodomain-containing proteins can be classified into boader families based, particularly, on the presence of o... | [
"HP1 alpha",
"CHD proteins",
"Chromodomain helicase DNA-binding protein",
"CReMM",
"cmt3",
"chromointegrases",
"Polycomb group (PcG) proteins",
"Cbx2",
"TgMYST-A",
"MRG15",
"MSL3",
"Swi6",
"Chp1",
"dMi-2",
"Corto",
"ScoHET1",
"cpSRP43",
"CDY",
"chromodomain Y chromosome",
"tran... | [
"Chromodomain helicase DNA-binding protein 2 affects the repair of X-ray and UV-induced DNA damage.",
"Chromodomain helicase DNA-binding proteins (CHD) belong to a group of highly conserved chromatin remodeling proteins that are implicated in regulation of transcription. In an effort to understand the physiologic... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22705977",
"http://www.ncbi.nlm.nih.gov/pubmed/22219182",
"http://www.ncbi.nlm.nih.gov/pubmed/23239876",
"http://www.ncbi.nlm.nih.gov/pubmed/16949368",
"http://www.ncbi.nlm.nih.gov/pubmed/19279158",
"http://www.ncbi.nlm.nih.gov/pubmed/21646535",
"http://www.ncbi.nlm.n... | [
{
"p": "http://purl.uniprot.org/core/fullName",
"s": "http://linkedlifedata.com/resource/#_4332474A303000D",
"o": "Chromodomain helicase"
},
{
"p": "http://purl.uniprot.org/core/submittedName",
"s": "http://purl.uniprot.org/uniprot/C2GJ00",
"o": "http://linkedlifedata.com/resource/#_4332... | [
"http://www.uniprot.org/uniprot/CHD3_DROME",
"http://www.uniprot.org/uniprot/CHD7_HUMAN",
"http://www.uniprot.org/uniprot/CHD4_HUMAN",
"http://www.uniprot.org/uniprot/CHD1_MOUSE",
"http://www.uniprot.org/uniprot/CHD7_CHICK",
"http://www.uniprot.org/uniprot/CHD1_HUMAN",
"http://www.uniprot.org/uniprot/CD... |
56b3efc38525abca1e000006 | summary | What is Genomicus? | [
"Genomicus had been developed as a database and a browser to study gene synteny in modern and ancestral genomes. It allows easy comparative genomic visualization in >150 eukaryote genomes and in four different phyla (Vertebrate, Fungi, Metazoan and Plants). It provides a way to explore spatial information related t... | [] | [
"Genomicus: a database and a browser to study gene synteny in modern and ancestral genomes.",
"Here we present Genomicus, a new synteny browser that can represent and compare unlimited numbers of genomes in a broad phylogenetic view. In addition, Genomicus includes reconstructed ancestral gene organization, thus ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20185404",
"http://www.ncbi.nlm.nih.gov/pubmed/23193262",
"http://www.ncbi.nlm.nih.gov/pubmed/25378326"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064878",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019991",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016678",
"http://www.nlm.nih.gov/cgi/mesh/2... |
5509df4ac2af5d5b70000003 | yesno | Is amiodarone a class I anti-arrhythmic drug? | [
"Although considered to be a class III anti-arrhythmic, amiodarone also has class I, II and IV actions, which gives it a unique pharmacological and anti-arrhythmic profile",
"Amiodarone has been used as an anti-arrhythmic drug since the 1970s and has an established role in the treatment of ventricular tachyarrhyt... | [
"no"
] | [
"Common class I agents are excluded due to the inherent abnormal cardiac structure and function in the setting of cardiogenic shock. Class III drug options include dofetilide and amiodarone.",
"Amiodarone has been used as an anti-arrhythmic drug since the 1970s and has an established role in the treatment of vent... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15989900",
"http://www.ncbi.nlm.nih.gov/pubmed/20041841",
"http://www.ncbi.nlm.nih.gov/pubmed/17352036",
"http://www.ncbi.nlm.nih.gov/pubmed/21626366",
"http://www.ncbi.nlm.nih.gov/pubmed/12491809",
"http://www.ncbi.nlm.nih.gov/pubmed/11825323",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4274241",
"http://www.biosemantics.org/jochem#4075064"
] |
5339ecf4d6d3ac6a3400005f | factoid | Which is the prognostic meaning of delayed enhancement documented in patients hypertrophic cardiomyopathy? | [
"Delayed enhancement by CMR has prognostic value in predicting adverse cardiovascular events among HCM patients, and is associated with cardiovascular mortality, heart failure death, and all-cause mortality in HCM."
] | [
"Delayed enhancement by CMR has prognostic value in predicting adverse cardiovascular events among HCM patients."
] | [
" It is possible to conclude that there is a high prevalence of myocardial fibrosis in hypertrophic cardiomyopathy patients with high-risk or recovered from cardiac sudden death, like those with clinical indication to implantable cardioverter -defibrillator. ",
"AF in HCM is related with myocardial fibrosis detec... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19740409",
"http://www.ncbi.nlm.nih.gov/pubmed/23376948",
"http://www.ncbi.nlm.nih.gov/pubmed/22128204",
"http://www.ncbi.nlm.nih.gov/pubmed/19784900",
"http://www.ncbi.nlm.nih.gov/pubmed/20688032",
"http://www.ncbi.nlm.nih.gov/pubmed/18204915",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011379",
"http://www.disease-ontology.org/api/metadata/DOID:11984",
"http://www.disease-ontology.org/api/metadata/DOID:11986",
"http://www.disease-ontology.org/api/metadata/DOID:0050700",
"http://www.nlm.nih.gov/cgi/mesh/2014... |
56ae35bc0a360a5e45000007 | summary | What is the COUGER tool? | [
"COUGER takes as input two sets of genomic regions bound by paralogous TFs, and it identifies a small set of putative co-factors that best distinguish the two sets of sequences. ",
"COUGER is a classification-based framework for identifying protein co-factors that might provide specificity to paralogous TFs. It t... | [] | [
"COUGER--co-factors associated with uniquely-bound genomic regions.",
"Here, we present an interactive web implementation of COUGER, a classification-based framework for identifying protein co-factors that might provide specificity to paralogous TFs. COUGER takes as input two sets of genomic regions bound by para... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24861628"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012984"
] |
532083389b2d7acc7e000003 | list | Are there drugs for Tick-borne Encephalitis? | [
"No drug therapy available today"
] | [
"No drug therapy available today"
] | [
" tick-borne encephalitis (TBE) have been detected in Bulgaria. Considering the remarkable increase in TBE morbidity in Europe over the past two decades, we conducted a study of TBE among patients with acute viral meningitis who were hospitalised in Bulgaria during 2009 to 2012. ",
"Viruses belonging to the Flavi... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24001228",
"http://www.ncbi.nlm.nih.gov/pubmed/24076358",
"http://www.ncbi.nlm.nih.gov/pubmed/24225644",
"http://www.ncbi.nlm.nih.gov/pubmed/23697658",
"http://www.ncbi.nlm.nih.gov/pubmed/22535622",
"http://www.ncbi.nlm.nih.gov/pubmed/24035586",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#broader",
"s": "http://linkedlifedata.com/resource/diseaseontology/id/DOID:0050175",
"o": "http://linkedlifedata.com/resource/diseaseontology/id/DOID:993"
},
{
"p": "http://www.w3.org/2004/02/skos/core#prefLabel",
"s": "http://linkedlifedata.com/re... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D060829",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018349",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004664",
"http://www.nlm.nih.gov/cgi/mesh/2... |
571e3d42bb137a4b0c000007 | yesno | Is SLC22A3 expressed in the brain? | [
"Yes, SLC22A3 (organic cation transporter (OCT3)) is widely expressed in various organs in humans, and involved in the disposition of many exogenous and endogenous compounds. Several lines of evidence have suggested that OCT3 expressed in the brain plays an important role in the regulation of neurotransmission."
] | [
"yes"
] | [
"The organic cation transporter (OCT) 3 is widely expressed in various organs in humans, and involved in the disposition of many exogenous and endogenous compounds. Several lines of evidence have suggested that OCT3 expressed in the brain plays an important role in the regulation of neurotransmission. ",
"The org... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20402963",
"http://www.ncbi.nlm.nih.gov/pubmed/21352605",
"http://www.ncbi.nlm.nih.gov/pubmed/19280114",
"http://www.ncbi.nlm.nih.gov/pubmed/18513366",
"http://www.ncbi.nlm.nih.gov/pubmed/19033200",
"http://www.ncbi.nlm.nih.gov/pubmed/15028779",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A0091809",
"o": "D009474"
},
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A0091286",
"o": "D009474"
}
] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001921",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D054022"
] |
53386282d6d3ac6a3400005a | yesno | Has the protein TIEG1 been associated with apoptosis? | [
"Yes, TIEG1 (also known as KLF10) seems to play a role in regulating apoptosis."
] | [
"yes"
] | [
"TGF-beta) inducible early gene 1 (TIEG1) is known to induce apoptosis in TGF-beta sensitive pancreatic cancer cells, yet its effect on TGF-beta resistant cancer cells remains unclear",
"overexpression of TIEG1, protected ALL cells against chemotherapy-induced cell death",
" TIEG1 might be involved in mediating... | [
"http://www.ncbi.nlm.nih.gov/pubmed/10471833",
"http://www.ncbi.nlm.nih.gov/pubmed/12771931",
"http://www.ncbi.nlm.nih.gov/pubmed/10573529",
"http://www.ncbi.nlm.nih.gov/pubmed/20945337",
"http://www.ncbi.nlm.nih.gov/pubmed/20691807",
"http://www.ncbi.nlm.nih.gov/pubmed/17659279",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#note",
"s": "http://linkedlifedata.com/resource/umls/label/A15583787",
"o": "MeSH"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A7828631",
"o": "GDNF inducible factor protein, mo... | [
"http://www.uniprot.org/uniprot/KLF10_RAT",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017209",
"http://www.uniprot.org/uniprot/KLF10_MOUSE",
"http://www.uniprot.org/uniprot/KLF10_HUMAN"
] |
5717d64f29809bbe7a000001 | factoid | Which is the cellular localization of the protein Opa1? | [
"The Opa1 protein localizes to the mitochondria.",
"Opa1 is found normally in the mitochondrial intermembrane space."
] | [
"mitochondrial intermembrane space"
] | [
". The subcellular distribution of mOPA1 overexpressed in COS-7 cells largely overlapped that of endogenous cytochrome c, a well known mitochondrial marker,",
"elease of high MW Opa-1 isoforms from the mitochondria to the cytosol",
" mitochondrial fusion (opa-1)",
"mitochondrial fusion genes Mfn1 (mitofusin 1... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23906536",
"http://www.ncbi.nlm.nih.gov/pubmed/19168126",
"http://www.ncbi.nlm.nih.gov/pubmed/17709430",
"http://www.ncbi.nlm.nih.gov/pubmed/22406748",
"http://www.ncbi.nlm.nih.gov/pubmed/18281461",
"http://www.ncbi.nlm.nih.gov/pubmed/22579715",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/amigo/term/GO:0070585"
] |
531d7430267d7dd053000008 | list | Which are the drugs utilized for the burning mouth syndrome? | [
"Dopaminergic drugs should be given in patients with BMS. \nCatuama reduces the symptoms of BMS and may be a novel therapeutic strategy for the treatment of this disease.\nCapsaicin, alpha-lipoic acid (ALA), and clonazepam were those that showed more reduction in symptoms of BMS.\nTreatment with placebos produced a... | [
"Dopaminergig drugs",
"Catuama",
"Capsaicina",
"Alpha-lipoic acid",
"Clonazepam",
"Placebo therapy"
] | [
"On average, treatment with placebos produced a response that was 72% as large as the response to active drugs.",
"The concomitant prescription of tongue protector and AV is effective for treating patients with BMS.",
"We suggest that a subset of patients with BMS may be a phenotypic variant of RLS and a trial ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/8725589",
"http://www.ncbi.nlm.nih.gov/pubmed/22669143",
"http://www.ncbi.nlm.nih.gov/pubmed/18976257",
"http://www.ncbi.nlm.nih.gov/pubmed/1776404",
"http://www.ncbi.nlm.nih.gov/pubmed/17287703",
"http://www.ncbi.nlm.nih.gov/pubmed/22040716",
"http://www.ncbi.nlm.nih... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002054",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004364",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009059",
"http://www.nlm.nih.gov/cgi/mesh/2... |
55031650e9bde69634000026 | yesno | Is PTEN involved in follicular thyroid carcinoma? | [
"The PTEN mutation frequency in unselected cases of follicular thyroid carcinoma was 4.8%."
] | [
"yes"
] | [
"Two of the 259 patients (0.8%), with both follicular thyroid carcinoma and macrocephaly, were found to carry a germline mutation in the PTEN gene. The PTEN mutation frequency in unselected cases of follicular thyroid carcinoma was 4.8%",
"The frequency of germline pathogenic PTEN mutations in an unselected serie... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11297621",
"http://www.ncbi.nlm.nih.gov/pubmed/16487009",
"http://www.ncbi.nlm.nih.gov/pubmed/9832031",
"http://www.ncbi.nlm.nih.gov/pubmed/21417916",
"http://www.ncbi.nlm.nih.gov/pubmed/12203792",
"http://www.ncbi.nlm.nih.gov/pubmed/18055323",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:3962",
"http://www.uniprot.org/uniprot/PTEN_XENLA"
] |
56c8f4615795f9a73e00001a | factoid | Which genome browser database for DNA shape annotations is available? | [
"The Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape ... | [
"GBshape"
] | [
"GBshape: a genome browser database for DNA shape annotations.",
"Our Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 o... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25326329"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064878",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019991"
] |
54fc97b86ad7dcbc12000002 | summary | What is known about clinical efficacy of ceftriaxone for treatment of amyotrophic lateral sclerosis? | [
"There have been a few case reports to suggest that ceftriaxone can be effective for treatment of amyotrophic lateral sclerosis. However, other case reports did not report clinical benefit of ceftriaxone therapy for ALS. Ceftriaxone has been reported to reduce neuronal damage in amyotrophic lateral sclerosis a thro... | [] | [
"Importantly, ceftriaxone is currently in clinical trials for the treatment of amyotrophic lateral sclerosis. ",
"Ceftriaxone delays loss of neurons in genetic animal models of amyotrophic lateral sclerosis through upregulation of astrocytic glutamate transporter expression (GLT-1).",
"OBJECTIVES: Ceftriaxone i... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19008722",
"http://www.ncbi.nlm.nih.gov/pubmed/20638444",
"http://www.ncbi.nlm.nih.gov/pubmed/22680643",
"http://www.ncbi.nlm.nih.gov/pubmed/15635412",
"http://www.ncbi.nlm.nih.gov/pubmed/25297012",
"http://www.ncbi.nlm.nih.gov/pubmed/19697382",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:332",
"http://www.biosemantics.org/jochem#4249031"
] |
56ccae765795f9a73e000035 | summary | What is the relationship between TailorX and Oncotype? | [
"The TAILORx trial uses the Oncotype DX recurrence score to assign estrogen receptor-positive (ER+), node-negative patients to chemotherapy plus hormonal therapy versus hormonal therapy alone."
] | [] | [
"The TAILORx trial uses the Oncotype DX recurrence score to assign estrogen receptor-positive (ER+), node-negative patients to chemotherapy plus hormonal therapy versus hormonal therapy alone. ",
"A cohort study was undertaken, including consecutive patients with early node-negative, ER-positive breast cancer dia... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18922117",
"http://www.ncbi.nlm.nih.gov/pubmed/23411384",
"http://www.ncbi.nlm.nih.gov/pubmed/20665886",
"http://www.ncbi.nlm.nih.gov/pubmed/25240289",
"http://www.ncbi.nlm.nih.gov/pubmed/23643806"
] | [] | [] |
51598b08d24251bc0500009f | yesno | Does strenuous physical activity affect thyroid hormone metabolism? | [
"YES"
] | [
"yes"
] | [
"The results of the present study in a unique experimental human model of maximal exposure to altitude and physical exercise demonstrate that extreme HA and strenuous physical exercise are coupled with specific endocrine adaptations. These include increased activity of the GH/IGF-I axis and a low T(3) syndrome",
... | [
"http://www.ncbi.nlm.nih.gov/pubmed/3101339",
"http://www.ncbi.nlm.nih.gov/pubmed/7198038",
"http://www.ncbi.nlm.nih.gov/pubmed/8743723",
"http://www.ncbi.nlm.nih.gov/pubmed/14637241",
"http://www.ncbi.nlm.nih.gov/pubmed/16175495",
"http://www.ncbi.nlm.nih.gov/pubmed/18057380",
"http://www.ncbi.nlm.nih.... | [] | [
"http://www.uniprot.org/uniprot/THA_LITCT",
"http://www.uniprot.org/uniprot/THB_SHEEP",
"http://www.uniprot.org/uniprot/THA_MOUSE",
"http://www.uniprot.org/uniprot/THAA_PAROL",
"http://www.uniprot.org/uniprot/THA_PYGAD",
"http://www.biosemantics.org/jochem#4275394",
"http://www.nlm.nih.gov/cgi/mesh/2012... |
56f112932ac5ed145900000d | summary | Which is the main function of "RNA sponges"? | [
"Natural RNA circles function as efficient microRNA sponges. Recently, miRNA activity has been shown to be affected by the presence of miRNA sponge transcripts, the so-called competing endogenous RNA in humans and target mimicry in plants.",
"Recently, miRNA activity has been shown to be affected by the presence ... | [] | [
"Pseudogene OCT4-pg4 functions as a natural micro RNA sponge to regulate OCT4 expression by competing for miR-145 in hepatocellular carcinoma",
"Mechanistic analysis revealed that OCT4-pg4 functions as a natural micro RNA sponge to protect OCT4 transcript from being inhibited by miR-145.",
"Natural RNA circles ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23446346",
"http://www.ncbi.nlm.nih.gov/pubmed/26052092",
"http://www.ncbi.nlm.nih.gov/pubmed/25580223",
"http://www.ncbi.nlm.nih.gov/pubmed/25630703",
"http://www.ncbi.nlm.nih.gov/pubmed/25957803",
"http://www.ncbi.nlm.nih.gov/pubmed/23615404",
"http://www.ncbi.nlm.n... | [] | [] |
56cf50253975bb303a00000b | yesno | Is the gene MAOA epigenetically modified by methylation? | [
"In recent years, the role of epigenetic phenomenon, such as methylation, in mediating vulnerability to behavioral illness has become increasingly appreciated. One prominent locus at which epigenetic phenomena are thought to be in play is the monoamine oxidase A (MAOA) locus.\nWe conclude that methylation of MAOA m... | [
"yes"
] | [
"Evidence that the methylation state of the monoamine oxidase A (MAOA) gene predicts brain activity of MAO A enzyme in healthy men.",
"We found significant interindividual differences in methylation status and methylation patterns of the core MAOA promoter. ",
"In the present study, DNA methylation patterns in ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22948232",
"http://www.ncbi.nlm.nih.gov/pubmed/20505345",
"http://www.ncbi.nlm.nih.gov/pubmed/22198720",
"http://www.ncbi.nlm.nih.gov/pubmed/16893905",
"http://www.ncbi.nlm.nih.gov/pubmed/22436428",
"http://www.ncbi.nlm.nih.gov/pubmed/22139575",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032259",
"http://www.uniprot.org/uniprot/AOFA_CANFA",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008745",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006306",
"http://www.uniprot... |
5523f1a62c8b63434a000002 | list | Which mutations of phopspholamban have been found in patients with cardiomyopathy? | [
"PLN mutation R14del [or c.40_42delAGA(p.Arg14del)] was identified in 12 (12 %) ARVC patients and in 39 (15 %) DCM patients. Another PLN mutation is a T116G point mutation, substituting a termination codon for Leu-39 (L39stop), and it was identified in two families with hereditary heart failure. Hereditary mutants ... | [
"c.40_42delAGA(p.Arg14del)",
"PLN R14 del",
"PLN L39stop",
"PLN R39X",
"Arg(9) to Cys",
"R9C",
"Arg(9) to Leu",
"R9L",
"Arg(9) to His",
"R9H"
] | [
" In 19 of 142 patients (13%), the PLN founder mutation c.40_42delAGA (p.Arg14del) was identified. PLN mutation carriers more often had low-voltage electrocardiograms (p = 0.004), inverted T waves in leads V4 to V6 (p <0.001), and additional structural (p = 0.007) or functional (p = 0.017) left ventricular impairme... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22137083",
"http://www.ncbi.nlm.nih.gov/pubmed/22707725",
"http://www.ncbi.nlm.nih.gov/pubmed/12639993",
"http://www.ncbi.nlm.nih.gov/pubmed/21282613",
"http://www.ncbi.nlm.nih.gov/pubmed/23568436",
"http://www.ncbi.nlm.nih.gov/pubmed/23871674",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009202",
"http://www.disease-ontology.org/api/metadata/DOID:0050700"
] |
52df8ce798d023950500000d | list | Which are the supplemental antioxidant in athletes? | [
"There are several antioxidant supplements belonging to different families, i.e. Vitamins, Polyphenols, alpha-lipoic acid, ubiquinones, n-3- polyunsaturated acids (PUFAs), minerals and others. Nonetheless the widespread use of these supplements, it is still debated their true usefulness, and it is not unanimously a... | [
"Resveratrol",
"Quercetin",
"Vitamin C",
"Biostimine",
"Astaxanthin",
"Melatonin",
"coenzyme Q(10)",
"Creatine",
"Isoquercetin",
"Epigallocatechin gallate",
"n-3 fatty acids",
"L. rhamnosus IMC 501",
"L. paracasei IMC 502",
"docosahexanoic acid (DHA)",
"eicosapentanoic acid (EPA)",
"Rh... | [
"Although these supplementations are increasingly used by master athletes, very few data are available on their effects on oxidative stress, muscle recovery, and physical performance. The potential benefits of supplement use in athletes are thus questionable. Some studies indicate no benefits, while others highligh... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24323888",
"http://www.ncbi.nlm.nih.gov/pubmed/21830999",
"http://www.ncbi.nlm.nih.gov/pubmed/19089749",
"http://www.ncbi.nlm.nih.gov/pubmed/23980734",
"http://www.ncbi.nlm.nih.gov/pubmed/22828460",
"http://www.ncbi.nlm.nih.gov/pubmed/23349254",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000975",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013177",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019587",
"http://www.nlm.nih.gov/cgi/mesh/2... |
5713c4a11174fb1755000013 | yesno | Is glycyl-tRNA synthetase gene involved in the development of Charcot-Marie-Tooth disease? | [
"Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot-Marie-Tooth disease, type 2D (CMT2D), predominantly characterized by lower motor nerve degeneration.",
"Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neur... | [
"yes"
] | [
"Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities. Mutations in the glycyl-tRNA synthetase (GARS) gene cause CMT2D",
"Dominant mutations in GARS cause rare forms of Charcot-Marie-Tooth d... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17035524",
"http://www.ncbi.nlm.nih.gov/pubmed/25420567",
"http://www.ncbi.nlm.nih.gov/pubmed/16982418",
"http://www.ncbi.nlm.nih.gov/pubmed/12690580",
"http://www.ncbi.nlm.nih.gov/pubmed/24669931",
"http://www.ncbi.nlm.nih.gov/pubmed/24368416",
"http://www.ncbi.nlm.n... | [] | [] |
5311cdcce3eabad021000007 | yesno | Is there any software for automated analysis of FISH images? | [
"FISH is a popular molecular cytogenetic method. The output of a single FISH analysis is a set of several tens or hundreds microscopic images — a single evaluated sample is of roughly 20mm diameter. The goal of an automated evaluation is to replace the subjective evaluation of images by the laboratory technician to... | [
"yes"
] | [
"he study demonstrated the feasibility of automated FISH signal analysis that applying a CAD scheme to the automated generated 2-D projection images.",
"A color imaging technique, multiplex fluorescent in situ hybridization (M-FISH), has been developed to ease the analysis of the process. Using an M-FISH techniqu... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21310746",
"http://www.ncbi.nlm.nih.gov/pubmed/22665392",
"http://www.ncbi.nlm.nih.gov/pubmed/21656271",
"http://www.ncbi.nlm.nih.gov/pubmed/16749443",
"http://www.ncbi.nlm.nih.gov/pubmed/17889539",
"http://www.ncbi.nlm.nih.gov/pubmed/23903043",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001331",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007091",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012984"
] |
51659356298dcd4e5100005a | summary | How do histone methyltransferases cause histone modification? | [
"Histone methyltransferases (HMTs) are responsible for the site-specific addition of covalent modifications on the histone tails, which serve as markers for the recruitment of chromatin organization complexes. There are two major types of HMTs: histone-lysine N-Methyltransferases and histone-arginine N-methyltransf... | [] | [
"Lysine methylation of histones is associated with both transcriptionally active chromatin and with silent chromatin, depending on what residue is modified. Histone methyltransferases and demethylases ensure that histone methylations are dynamic and can vary depending on cell cycle- or developmental stage.",
"Thi... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19571682",
"http://www.ncbi.nlm.nih.gov/pubmed/20026581",
"http://www.ncbi.nlm.nih.gov/pubmed/17468742",
"http://www.ncbi.nlm.nih.gov/pubmed/12893173",
"http://www.ncbi.nlm.nih.gov/pubmed/22393255",
"http://www.ncbi.nlm.nih.gov/pubmed/11316813",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011495",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0016570",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0008469"
] |
54ede5df94afd61504000007 | yesno | Is there an increased risk for cancer in Dyskeratosis Congenita? | [
"People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis ",
"Yes. Clinical progression of the disease can lead t... | [
"yes"
] | [
"People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis",
"Clinical progression of the disease can lead to aplas... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19327580",
"http://www.ncbi.nlm.nih.gov/pubmed/20925138",
"http://www.ncbi.nlm.nih.gov/pubmed/20507306",
"http://www.ncbi.nlm.nih.gov/pubmed/23619122",
"http://www.ncbi.nlm.nih.gov/pubmed/18938267",
"http://www.ncbi.nlm.nih.gov/pubmed/23352883",
"http://www.ncbi.nlm.n... | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:162",
"http://www.disease-ontology.org/api/metadata/DOID:2729",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009369"
] |
54f4703764850a5854000008 | yesno | Does MicroRNA-21 (miR-21) contribute to cardiovascular disease? | [
"MicroRNA-21 (miR-21) is a highly expressed microRNA (miRNA) in cardiovascular system. Recent studies have revealed that its expression is deregulated in heart and vasculature under cardiovascular disease conditions such as proliferative vascular disease, cardiac hypertrophy and heart failure, and ischemic heart di... | [
"yes"
] | [
"The synergistic effect of miR-21 and miR-1 were functionally validated for their significant influences on myocardial apoptosis, cardiac hypertrophy and fibrosis.",
"Taken together, we found a novel reciprocal loop between miR-21 and TGFβRIII in cardiac fibrosis caused by myocardial infarction in mice, and targe... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22960625",
"http://www.ncbi.nlm.nih.gov/pubmed/23691029",
"http://www.ncbi.nlm.nih.gov/pubmed/22882958",
"http://www.ncbi.nlm.nih.gov/pubmed/20560046",
"http://www.ncbi.nlm.nih.gov/pubmed/22038740",
"http://www.ncbi.nlm.nih.gov/pubmed/21712654",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D035683",
"http://www.disease-ontology.org/api/metadata/DOID:1287"
] |
552421082c8b63434a000005 | factoid | What is the enzymatic activity of the breast cancer associated gene BRCA1? | [
"E3-ubiquitin ligase activity is the only known enzymatic activity of BRCA1, which is mediated by the N-terminal RING finger domain.BRCA1 nuclear transport and ubiquitin E3 ligase enzymatic activity are tightly regulated by the BRCA1 dimeric binding partner BARD1 and further modulated by cancer mutations and divers... | [
"E3 ubiquitin ligase activity"
] | [
"E3-ubiquitin ligase activity is the only known enzymatic activity of BRCA1, which is mediated by the N-terminal RING finger domain.",
"BRCA1 nuclear transport and ubiquitin E3 ligase enzymatic activity are tightly regulated by the BRCA1 dimeric binding partner BARD1 and further modulated by cancer mutations and ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20681793",
"http://www.ncbi.nlm.nih.gov/pubmed/24278741",
"http://www.ncbi.nlm.nih.gov/pubmed/15254397",
"http://www.ncbi.nlm.nih.gov/pubmed/16479151",
"http://www.ncbi.nlm.nih.gov/pubmed/16710298",
"http://www.ncbi.nlm.nih.gov/pubmed/17420471",
"http://www.ncbi.nlm.n... | [] | [
"http://www.uniprot.org/uniprot/BRCA1_GORGO",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070531"
] |
5505b9ff8e1671127b000001 | list | List markers for autophagy. | [
"Expression of LC3-II and BECN1 as well as SQSTM1 are used as markers of autophagy activity."
] | [
"LC3-II",
"microtubule-associated protein 1 light chain 3",
"BECN1",
"beclin 1",
"SQSTM1",
"p62",
"Sequestosome 1"
] | [
". Light chain 3/Atg8 as an autophagy marker ",
"increased conversion of microtubule-associated protein, 1A/1B-light chain 3, from its cytosolic form (LC3B-I) to its lipidated form (LC3B-II), increased Beclin-1 levels, and increased acridine orange staining as determined by flow cytometry analysis, providing furt... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22807527",
"http://www.ncbi.nlm.nih.gov/pubmed/23940944",
"http://www.ncbi.nlm.nih.gov/pubmed/23193914",
"http://www.ncbi.nlm.nih.gov/pubmed/23626658",
"http://www.ncbi.nlm.nih.gov/pubmed/24141623",
"http://www.ncbi.nlm.nih.gov/pubmed/24231340",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000943",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001343"
] |
56b29bf545561f0573000003 | yesno | Are there any statistical methods for normalizing and identifying differential regions in histone modification ChIP-seq data? | [
"Yes. ChIPnorm is a two-stage statistical method to normalize ChIP-seq data, and to find differential regions in the genome, given two libraries of histone modifications of different cell types."
] | [
"yes"
] | [
"ChIPnorm: a statistical method for normalizing and identifying differential regions in histone modification ChIP-seq libraries.",
"In this paper we propose a two-stage statistical method, called ChIPnorm, to normalize ChIP-seq data, and to find differential regions in the genome, given two libraries of histone m... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22870189"
] | [] | [
"http://amigo.geneontology.org/amigo/term/GO:0016570",
"http://www.biosemantics.org/jochem#4278518"
] |
52ef7170c8da898910000012 | yesno | Is CD84 genetically associated with arthritis? | [
"Three members of this gene family, Ly108, Ly9, and CD84, exhibit polymorphisms that strongly influence susceptibility to systemic autoimmunity, notably in mice, but also in some human populations. Our study demonstrates that an allele associated with response to etanercept therapy is also associated with CD84 gene... | [
"yes"
] | [
"The SNP is predicted to disrupt transcription factor binding site motifs in the 3' UTR of an immune-related gene, CD84, and the allele associated with better response to etanercept was associated with higher CD84 gene expression in peripheral blood mononuclear cells (P = 1 × 10(-11) in 228 non-RA patients and P = ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21094032",
"http://www.ncbi.nlm.nih.gov/pubmed/21255096",
"http://www.ncbi.nlm.nih.gov/pubmed/23555300"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001168",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001172",
"http://www.disease-ontology.org/api/metadata/DOID:7148"
] |
5719f5b27de986d80d00000c | factoid | What is the function of Neu5Gc (N-Glycolylneuraminic acid)? | [
"N-glycolylneuraminic acid (Neu5Gc) is an immunogenic sugar of dietary origin that metabolically incorporates into diverse native glycoconjugates in humans. Humans lack a functional cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) protein and cannot synthesize the sugar Neu5Gc, an innate mammalian... | [
"Neu5Gc is an immune message to self"
] | [
"Humans lack a functional cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) protein and cannot synthesize the sugar Neu5Gc, an innate mammalian signal of self",
"N-glycolylneuraminic acid (Neu5Gc) is an immunogenic sugar of dietary origin that metabolically incorporates into diverse native glycoco... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25003133",
"http://www.ncbi.nlm.nih.gov/pubmed/25124893",
"http://www.ncbi.nlm.nih.gov/pubmed/18669916",
"http://www.ncbi.nlm.nih.gov/pubmed/23945141",
"http://www.ncbi.nlm.nih.gov/pubmed/23520510",
"http://www.ncbi.nlm.nih.gov/pubmed/11786991"
] | [] | [
"http://www.biosemantics.org/jochem#4256873",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019158"
] |
532f08b8d6d3ac6a34000029 | yesno | Are there any specific antidotes for rivaroxaban? | [
"Currently, there is no specific antidote for rivaroxaban"
] | [
"no"
] | [
"Novel oral anticoagulants (NOACs)--apixaban, dabigatran, and rivaroxaban--have a significantly smaller risk of intracerebral hemorrhage (ICH). However, two facts make this situation complicated: First, the risk of hematoma expansion is unknown for NOACs. Second, there is no specific antidote for neither of the NOA... | [
"http://www.ncbi.nlm.nih.gov/pubmed/12871541",
"http://www.ncbi.nlm.nih.gov/pubmed/23117666",
"http://www.ncbi.nlm.nih.gov/pubmed/23312927",
"http://www.ncbi.nlm.nih.gov/pubmed/19351313",
"http://www.ncbi.nlm.nih.gov/pubmed/23657589",
"http://www.ncbi.nlm.nih.gov/pubmed/24103671",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000931",
"http://www.biosemantics.org/jochem#4243836"
] |
5710a592cf1c32585100002a | factoid | Which metabolite activates AtxA? | [
"Upon infection of a mammalian host, Bacillus anthracis responds to host cues, and particularly to elevated temperature (37°C) and bicarbonate/CO2 concentrations, with increased expression of virulence factors that include the anthrax toxins and extracellular capsular layer. Cultures grown with elevated CO(2) /bica... | [
"CO2",
"bicarbonate"
] | [
"Here we report that bioinformatic analyses suggested the presence in AtxA of two PTS (phosphenolpyruvate : sugar phosphotransferase system) regulation domains (PRD) generally regulated by phosphorylation/dephosphorylation at conserved histidine residues.",
"Our results link virulence factor production in B. anth... | [
"http://www.ncbi.nlm.nih.gov/pubmed/8577251",
"http://www.ncbi.nlm.nih.gov/pubmed/9199422",
"http://www.ncbi.nlm.nih.gov/pubmed/9106214",
"http://www.ncbi.nlm.nih.gov/pubmed/9234759",
"http://www.ncbi.nlm.nih.gov/pubmed/15149039",
"http://www.ncbi.nlm.nih.gov/pubmed/21923765",
"http://www.ncbi.nlm.nih.g... | [] | [
"http://www.uniprot.org/uniprot/ATXA_BACAN"
] |
57169662cb4ef8864c000008 | summary | What is the function of 6SRNA in bacteria? | [
"6S RNA, first described as a ncRNA in E. coli, mimics an open promoter structure, which has a large bulge with two hairpin/stalk structures that regulate transcription through interactions with RNA polymerase. Escherichia coli 6S RNA represents a non-coding RNA (ncRNA), which, based on the conserved secondary stru... | [] | [
"Qbeta replicase lacking subunit alpha (R-alpha) is capable of replicating templates other than (+) strand, such as (--), \"6S\" RNA, poly(C) etc., in the absence of the host factor.",
"Escherichia coli 6S RNA gene is part of a dual-function transcription unit.",
"The DNA sequence results confirm the accuracy o... | [
"http://www.ncbi.nlm.nih.gov/pubmed/58611",
"http://www.ncbi.nlm.nih.gov/pubmed/17332013",
"http://www.ncbi.nlm.nih.gov/pubmed/15262935",
"http://www.ncbi.nlm.nih.gov/pubmed/23667906",
"http://www.ncbi.nlm.nih.gov/pubmed/22214309",
"http://www.ncbi.nlm.nih.gov/pubmed/2579060"
] | [] | [] |
54d77f0e3706e8952800001b | yesno | Is cytisine superior to nicotine replacement therapy for smoking cessation? | [
"Yes, one clinical trial that directly compared smoking cessation rates with cytisine versus nicotine replacement therapy reported that cytisine was superior to nicotine-replacement therapy in helping smokers quit smoking, but it was associated with a higher frequency of self-reported adverse events."
] | [
"yes"
] | [
"The effectiveness of cytisine for continuous abstinence was superior to that of nicotine-replacement therapy at 1 week, 2 months, and 6 months. In a prespecified subgroup analysis of the primary outcome, cytisine was superior to nicotine-replacement therapy among women and noninferior among men.",
"CONCLUSIONS: ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22513936",
"http://www.ncbi.nlm.nih.gov/pubmed/21154363",
"http://www.ncbi.nlm.nih.gov/pubmed/17130378",
"http://www.ncbi.nlm.nih.gov/pubmed/24574554",
"http://www.ncbi.nlm.nih.gov/pubmed/25517706",
"http://www.ncbi.nlm.nih.gov/pubmed/17825502",
"http://www.ncbi.nlm.n... | [] | [
"http://www.biosemantics.org/jochem#4273701",
"http://www.biosemantics.org/jochem#4251343"
] |
532366f09b2d7acc7e000015 | factoid | Which amino acid residue appears mutated in most of the cases reported with cadasil syndrome? | [
"CADASIL is caused mostly by missense mutations in the NOTCH3 gene, invariably involving a cysteine residue."
] | [
"Cysteine"
] | [
"missense mutations and small deletions in the NOTCH3 gene, not involving cysteine residues, have been described in patients considered to be affected by paucisymptomatic CADASIL. However, the significance of such molecular variants is still unclear",
"CADASIL is caused mostly by missense mutations in the NOTCH3 ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/18313300",
"http://www.ncbi.nlm.nih.gov/pubmed/24086431",
"http://www.ncbi.nlm.nih.gov/pubmed/11706120",
"http://www.ncbi.nlm.nih.gov/pubmed/23587639",
"http://www.ncbi.nlm.nih.gov/pubmed/15304596",
"http://www.ncbi.nlm.nih.gov/pubmed/21772710",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/diseaseontology/id/DOID:13945",
"o": "UMLS_CUI:C0751587"
},
{
"p": "http://www.w3.org/2004/02/skos/core#prefLabel",
"s": "http://linkedlifedata.com/resource/diseaseontology/id/DOID:13945",
"o"... | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D046589",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D024342",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000596",
"http://www.disease-ontology.org/a... |
57090784cf1c325851000011 | list | Which syndromes are associated with mutations in the EZH2 gene? | [
"EZH2 mutations that cause Weaver syndrome are primarily missense variants and the rare truncating mutations reported to date are in the last exon, suggesting that simple haploinsufficiency is unlikely to be generating the overgrowth phenotype although the exact mechanism has not yet been determined. Recent studies... | [
"myelodysplastic syndrome (MDS)",
"Acquired aplastic anemia (AA)",
"Weaver syndrome",
"non-Hodgkin lymphoma (NHL)",
"myeloid leukaemia"
] | [
"Loss-of-function mutations of EZH2, a catalytic component of polycomb repressive complex 2 (PRC2), are observed in ~\\n10% of patients with myelodysplastic syndrome (MDS), but are rare in acute myeloid leukaemia (AML)",
"We describe the use of an oligo-SNP array for genomic profiling of aCNA and cnLOH, together ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/21856302",
"http://www.ncbi.nlm.nih.gov/pubmed/24507812",
"http://www.ncbi.nlm.nih.gov/pubmed/24953053",
"http://www.ncbi.nlm.nih.gov/pubmed/10780782",
"http://www.ncbi.nlm.nih.gov/pubmed/24218139",
"http://www.ncbi.nlm.nih.gov/pubmed/23592277",
"http://www.ncbi.nlm.n... | [] | [
"http://www.uniprot.org/uniprot/EZH2_MACFA",
"http://www.uniprot.org/uniprot/EZH2_HUMAN",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577"
] |
55414a763f2354b713000003 | list | Which databases exist for experimentally determined topologies of α-helical transmembrane proteins ? | [
"ExTopoDB and TMPDB."
] | [
"ExTopoDB",
"TMPDB"
] | [
"ExTopoDB: a database of experimentally derived topological models of transmembrane proteins",
"ExTopoDB is a publicly accessible database of experimentally derived topological models of transmembrane proteins. It contains information collected from studies in the literature that report the use of biochemical met... | [
"http://www.ncbi.nlm.nih.gov/pubmed/12520035",
"http://www.ncbi.nlm.nih.gov/pubmed/20601677"
] | [] | [] |
55000cc4e9bde69634000004 | factoid | Which disease is characterized by congenital absence of intrinsic ganglion cells of the gastrointestinal tract? | [
"Hirschsprung disease (HSCR, aganglionic megacolon) is a common congenital malformation leading to bowel obstruction, with an incidence of 1/5,000 live births. It is characterized by the absence of intrinsic ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract... | [
"Aganlionic megacolon or Hirschsprung disease"
] | [
"Hirschsprung's disease (HSCR), also known as aganglionic megacolon, derives from a congenital malformation of the enteric nervous system (ENS).",
"This severe congenital condition is caused by the absence of colonic neural ganglia and thus lack of intrinsic innervation of the colon due in turn to improper coloni... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23272425",
"http://www.ncbi.nlm.nih.gov/pubmed/16618617",
"http://www.ncbi.nlm.nih.gov/pubmed/8896569",
"http://www.ncbi.nlm.nih.gov/pubmed/23836442",
"http://www.ncbi.nlm.nih.gov/pubmed/9556633",
"http://www.ncbi.nlm.nih.gov/pubmed/10980580",
"http://www.ncbi.nlm.nih... | [] | [] |
54ede28094afd61504000003 | factoid | What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations? | [
"Fanconi anemia (FA) is an autosomal disorder that causes genome instability and manifests by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromosomal aberrations.",
"Fanconi anemia (FA) is an autosomal disorder that causes genome instability. FA patients suffer develop... | [
"Fanconi anemia"
] | [
"Fanconi anemia (FA) is an autosomal disorder that causes genome instability. FA patients suffer developmental abnormalities, early-onset bone marrow failure, and a predisposition to cancer. The disease is manifested by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromos... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20132664",
"http://www.ncbi.nlm.nih.gov/pubmed/8876687",
"http://www.ncbi.nlm.nih.gov/pubmed/7011307",
"http://www.ncbi.nlm.nih.gov/pubmed/7116934",
"http://www.ncbi.nlm.nih.gov/pubmed/21568838",
"http://www.ncbi.nlm.nih.gov/pubmed/16115458",
"http://www.ncbi.nlm.nih.... | [] | [] |
56ecfd572ac5ed1459000002 | factoid | How is oprozomib administered? | [
"Oprozomib is administered orally."
] | [
"Orally"
] | [
"Further, new orally administered second-generation PI oprozomib is being investigated. ",
"Carfilzomib and its orally bioavailable structural analog oprozomib are second-generation, highly-selective, proteasome inhibitors.",
"This review provides an overview of the role of oral proteasome inhibitors including ... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24915039",
"http://www.ncbi.nlm.nih.gov/pubmed/24471924",
"http://www.ncbi.nlm.nih.gov/pubmed/22763387",
"http://www.ncbi.nlm.nih.gov/pubmed/24712303",
"http://www.ncbi.nlm.nih.gov/pubmed/22929803",
"http://www.ncbi.nlm.nih.gov/pubmed/24103732",
"http://www.ncbi.nlm.n... | [] | [] |
54f57892d0d681a040000009 | summary | What is a Caveolae? | [
"Caveolae, plasma membrane invaginations of 60-80nm in diameter, are a subset of lipid rafts enriched in cholesterol and sphingolipids."
] | [] | [
"Caveolae are flask-shaped plasma membrane invaginations formed by constitutive caveolin proteins and regulatory cavin proteins. ",
"Caveolae are membrane subdomains that function as signaling platforms, endocytic carriers, sensors of membrane tension, and mechanical stress, as well as in lipid homeostasis",
"C... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24013648",
"http://www.ncbi.nlm.nih.gov/pubmed/23899671",
"http://www.ncbi.nlm.nih.gov/pubmed/23727353",
"http://www.ncbi.nlm.nih.gov/pubmed/24023653",
"http://www.ncbi.nlm.nih.gov/pubmed/23593340",
"http://www.ncbi.nlm.nih.gov/pubmed/23340574",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A1304410",
"o": "4007-0024"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#literalForm",
"s": "http://linkedlifedata.com/resource/umls/label/A1304410",
"o": "caveola intracellularis"
... | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D021941",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072584",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:... |
56ebfa13107309bc2f000004 | list | Which are the roles of chromatin compartments in the eukaryotic nucleus? | [
"The complexity in composition and function of the eukaryotic nucleus is achieved through its organization in specialized nuclear compartments. Chromosome conformation capture approaches have shown that interphase chromatin is partitioned into spatially segregated Mb-sized compartments and sub-Mb-sized topological ... | [
"providing complex regulation",
"facilitating matching genes and regulatory elements",
"efficient trancription"
] | [
"concentrating proteins needed to perform different steps of RNA synthesis within specialized nuclear compartments will be important in orchestrating events required for efficient gene expression.",
"Chromatin domains and nuclear compartments: establishing sites of gene expression in eukaryotic nuclei.",
"Using... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15791412",
"http://www.ncbi.nlm.nih.gov/pubmed/18974210",
"http://www.ncbi.nlm.nih.gov/pubmed/21637796",
"http://www.ncbi.nlm.nih.gov/pubmed/15140983",
"http://www.ncbi.nlm.nih.gov/pubmed/22198682",
"http://www.ncbi.nlm.nih.gov/pubmed/11909528",
"http://www.ncbi.nlm.n... | [] | [] |
56c0708eef6e39474100001f | yesno | Is the abnormal dosage of ultraconserved elements disfavored in cancer cells? | [
"No. Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells."
] | [
"no"
] | [
"Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.",
"We begin by showing that depletion for UCEs characterizes the most recent large-scale human CNV datasets and then find that even newly formed de novo CNVs, which have passed through meiosis at most once, are... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25340765"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:162"
] |
515ac533d24251bc050000a9 | yesno | Does thyroid hormone regulate calcium transient in the myocardium? | [
"YES"
] | [
"yes"
] | [
"3-iodothyronamine (T(1)AM) is a novel endogenous relative of thyroid hormone, able to interact with trace amine-associated receptors, a class of plasma membrane G protein-coupled receptors, and to produce a negative inotropic and chronotropic effect",
"In adult rat cardiomyocytes acute exposure to 20 microM T(1)... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19298522",
"http://www.ncbi.nlm.nih.gov/pubmed/2428004",
"http://www.ncbi.nlm.nih.gov/pubmed/9875761",
"http://www.ncbi.nlm.nih.gov/pubmed/9773867"
] | [] | [
"http://www.uniprot.org/uniprot/THA_LITCT",
"http://www.uniprot.org/uniprot/THB_HUMAN",
"http://www.uniprot.org/uniprot/THB_SHEEP",
"http://www.uniprot.org/uniprot/THA_MOUSE",
"http://www.uniprot.org/uniprot/THA_PYGAD",
"http://www.uniprot.org/uniprot/THA_CHICK",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB... |
533c2230c45e133714000002 | list | What are the biological roles proposed for proteins containing the SPRY domain? | [
"defence against retroviral infection\ninnate and adaptative immunity\nvesicular trafficking\nneural differentiation\nembryonic development"
] | [
"defence against retroviral infection",
"immunity",
"vesicular trafficking",
"neural differentiation",
"embryonic development"
] | [
"monkey TRIM5α SPRY domain recognizes multiple epitopes that span several capsid monomers on the surface of the HIV-1 mature viral core",
"These properties, which may enhance resistance of TRIM5α to capsid mutations, result in relatively low affinity of the individual SPRY domains for the capsid",
"RIM5α is a r... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22337885",
"http://www.ncbi.nlm.nih.gov/pubmed/22872646",
"http://www.ncbi.nlm.nih.gov/pubmed/17431422",
"http://www.ncbi.nlm.nih.gov/pubmed/23886867",
"http://www.ncbi.nlm.nih.gov/pubmed/15857996",
"http://www.ncbi.nlm.nih.gov/pubmed/23775985",
"http://www.ncbi.nlm.n... | [] | [
"http://www.uniprot.org/uniprot/FBSP1_RAT",
"http://www.uniprot.org/uniprot/TRI51_HUMAN",
"http://www.uniprot.org/uniprot/FBSP1_DROAN",
"http://www.uniprot.org/uniprot/CMYA5_HUMAN",
"http://www.uniprot.org/uniprot/FBSP1_DROMO",
"http://www.uniprot.org/uniprot/BSPRY_HUMAN",
"http://www.uniprot.org/unipro... |
511979b04eab811676000003 | summary | How could we infer functional associations from gene fusion events? | [
"The detection of gene fusion events across genomes can be used for the prediction of functional associations of proteins, based on the observation that related proteins in one organism (including physically interacting proteins/members of complexes, proteins involved in the same pathway) tend to be found in other ... | [] | [
"Gene fusion is an important evolutionary process. It can yield valuable information to infer the interactions and functions of proteins.",
"We have developed a Bayesian framework to infer phosphorylation networks from time series measurements of phosphosite concentrations upon ligand stimulation. To increase the... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19582169",
"http://www.ncbi.nlm.nih.gov/pubmed/15980440",
"http://www.ncbi.nlm.nih.gov/pubmed/16571130",
"http://www.ncbi.nlm.nih.gov/pubmed/11438739",
"http://www.ncbi.nlm.nih.gov/pubmed/15215406",
"http://www.ncbi.nlm.nih.gov/pubmed/22267904",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050939"
] |
514241fcd24251bc05000006 | list | The protein NONO forms heterodimers. With which proteins? | [
"The protein NONO forms heterodimers with PSPC1, SFPQ."
] | [
"PSPC1",
"SFPQ"
] | [
"The paraspeckle component 1 (PSPC1) and non-POU-domain-containing octamer-binding protein (NONO) heterodimer is an essential structural component of paraspeckles,",
"PSPC1-NONO heterodimer.",
"Crystallization of a paraspeckle protein PSPC1-NONO heterodimer",
"difficult heterodimeric complex of two human prot... | [
"http://www.ncbi.nlm.nih.gov/pubmed/16148043",
"http://www.ncbi.nlm.nih.gov/pubmed/22101825",
"http://www.ncbi.nlm.nih.gov/pubmed/22102035",
"http://www.ncbi.nlm.nih.gov/pubmed/20421735",
"http://www.ncbi.nlm.nih.gov/pubmed/18655028",
"http://www.ncbi.nlm.nih.gov/pubmed/19423654",
"http://www.ncbi.nlm.n... | [] | [
"http://www.uniprot.org/uniprot/NONO_HUMAN",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0043497",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019281",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D055503",
"http:... |
5709ee36cf1c32585100001e | factoid | Which syndrome is associated with mutant DVL1? | [
"Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome."
] | [
"Robinow syndrome"
] | [
"Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.",
"Here, we identified de novo frameshift mutations in DVL1, a mediator of both canonical and non-canonical Wnt signaling, as the cause of RS-OS, an RS subtype involving osteosclerosis, in three unrelated individuals.",
"DVL1 frameshift mutati... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25817014",
"http://www.ncbi.nlm.nih.gov/pubmed/25817016"
] | [] | [] |
517179718ed59a060a00000e | yesno | Are proteasome inhibitors good candidates for treatment of leukemia and solid tumors? | [
"Yes, several compounds that inhibit different members of the proteasome pathway (for example Bortezomib) are on trial for treatment of leukemia and solid tumors. It seems that a combination with other drugs may be a useful therapy for solid tumors."
] | [
"yes"
] | [
"We show that treatment with b-AP15 inhibited tumor progression in four different in vivo solid tumor models and inhibited organ infiltration in an acute myeloid leukemia model. Our results show that the deubiquitinating activity of the 19S regulatory particle is a new anticancer drug target",
"We further found t... | [
"http://www.ncbi.nlm.nih.gov/pubmed/22057347",
"http://www.ncbi.nlm.nih.gov/pubmed/17145882",
"http://www.ncbi.nlm.nih.gov/pubmed/22012631",
"http://www.ncbi.nlm.nih.gov/pubmed/15169797",
"http://www.ncbi.nlm.nih.gov/pubmed/20160034",
"http://www.ncbi.nlm.nih.gov/pubmed/20219102",
"http://www.ncbi.nlm.n... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061988",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007938"
] |
553cae13f32186855800000e | yesno | Is there any link between CTF4 and CTF18 during sister chromatid cohesion? | [
"Yes. CTF4 and CTF18 are required for high-fidelity chromosome segregation. Both exhibit genetic and physical ties to replication fork constituents. Absence of either CTF4 or CTF18 causes sister chromatid cohesion failure and leads to a preanaphase accumulation of cells that depends on the spindle assembly checkpoi... | [
"yes"
] | [
"Our results suggest that Elg1, Ctf4, and Ctf18 may coordinate the relative movement of the replication fork with respect to the cohesin ring",
"These data defined two cohesion pathways, one containing CSM3, TOF1, CTF4, and CHL1, and the second containing MRC1, CTF18, CTF8, and DCC1",
"Here we show that three p... | [
"http://www.ncbi.nlm.nih.gov/pubmed/11287619",
"http://www.ncbi.nlm.nih.gov/pubmed/17483413",
"http://www.ncbi.nlm.nih.gov/pubmed/23334284",
"http://www.ncbi.nlm.nih.gov/pubmed/19430531",
"http://www.ncbi.nlm.nih.gov/pubmed/16962805",
"http://www.ncbi.nlm.nih.gov/pubmed/14742714",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045876",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007062",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007063"
] |
56a7d5afa17756b72f000002 | summary | What is the Genomic Regions Enrichment of Annotations Tool (GREAT)? | [
"Genomic Regions Enrichment of Annotations Tool (GREAT) is a tool to analyse the functional significance of cis-regulatory regions identified by localised measurements of DNA binding events across an entire genome. Whereas previous methods took into account only binding proximal to genes, GREAT is able to properly ... | [] | [
"We developed the Genomic Regions Enrichment of Annotations Tool (GREAT) to analyze the functional significance of cis-regulatory regions identified by localized measurements of DNA binding events across an entire genome. Whereas previous methods took into account only binding proximal to genes, GREAT is able to pr... | [
"http://www.ncbi.nlm.nih.gov/pubmed/20436461"
] | [] | [] |
54d649843706e89528000009 | factoid | What is the target of the drug Olaparib? | [
"The drug Olaparib target the protein poly(ADP-ribose) polymerase."
] | [
"poly(ADP-ribose) polymerase",
"PARP"
] | [
"We show that targeting PARP by the small molecule inhibitors, Olaparib ",
"Following treatment with the PARP1 inhibitor olaparib, ",
"the PARP inhibitor olaparib",
"Olaparib (AZD-2281, Ku-0059436) is an orally bioavailable and well-tolerated poly(ADP-ribose) polymerase (PARP) inhibitor currently under invest... | [
"http://www.ncbi.nlm.nih.gov/pubmed/25120693",
"http://www.ncbi.nlm.nih.gov/pubmed/25221646",
"http://www.ncbi.nlm.nih.gov/pubmed/25526472",
"http://www.ncbi.nlm.nih.gov/pubmed/25366685",
"http://www.ncbi.nlm.nih.gov/pubmed/25417706",
"http://www.ncbi.nlm.nih.gov/pubmed/25275045",
"http://www.ncbi.nlm.n... | [
{
"p": "http://www.w3.org/2004/02/skos/core#notation",
"s": "http://linkedlifedata.com/resource/umls/label/A17682038",
"o": "C71721"
},
{
"p": "http://www.w3.org/2008/05/skos-xl#prefLabel",
"s": "http://linkedlifedata.com/resource/umls/id/C2316164",
"o": "http://linkedlifedata.com/resour... | [
"http://www.uniprot.org/uniprot/PARP_DROME",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004364",
"http://www.uniprot.org/uniprot/PARP_SARPE",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field... |
52f7c4bd2059c6d71c00002d | yesno | Are thyroid hormone receptor alpha1 mutations implicated in thyroid hormone resistance syndrome? | [
"The lack of TR alpha1 exacerbates the manifestation of RTH in TR betaPV mice. Therefore, TR alpha1 could play a compensatory role in mediating the functions of T3 in heterozygous patients with RTH"
] | [
"yes"
] | [
"This study reports the consequences of LT4 treatment over a prolonged period of time in 2 of the first patients with a heterozygous mutation in TRα1.",
"Here we show that the dysregulation of the pituitary-thyroid axis was worsened by the lack of TR alpha1 in TR betaPV mice, and severe impairment of postnatal gr... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23633213",
"http://www.ncbi.nlm.nih.gov/pubmed/17906375",
"http://www.ncbi.nlm.nih.gov/pubmed/7913092",
"http://www.ncbi.nlm.nih.gov/pubmed/9092799",
"http://www.ncbi.nlm.nih.gov/pubmed/17040361",
"http://www.ncbi.nlm.nih.gov/pubmed/7711514",
"http://www.ncbi.nlm.nih.... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018382",
"http://www.uniprot.org/uniprot/THAA_PAROL",
"http://www.disease-ontology.org/api/metadata/DOID:11633",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D037021",
"http://www.nlm.nih.... |
53188c12b166e2b80600001a | summary | What is the role of RhoA in bladder cancer? | [
"In urinary bladder cancer, RhoA was more commonly found to be activated in the later stages of the disease. This activation was related to poor tumor differentiation, muscle invasion, lymph node metastasis, and shortened disease-free and overall survival."
] | [] | [
"Alterations in RhoA, RhoB, RhoC, Rac1 and Cdc42 expression play a significant role in the genesis and progression of UCC of the urinary bladder.",
"Published reports suggest that elevated RhoA/Rho-kinase signaling plays a role in the development of benign prostatic hyperplasia, erectile dysfunction, kidney failu... | [
"http://www.ncbi.nlm.nih.gov/pubmed/19896475",
"http://www.ncbi.nlm.nih.gov/pubmed/21054792",
"http://www.ncbi.nlm.nih.gov/pubmed/18190825",
"http://www.ncbi.nlm.nih.gov/pubmed/22006759",
"http://www.ncbi.nlm.nih.gov/pubmed/12855641"
] | [] | [
"http://www.uniprot.org/uniprot/RHOA_HUMAN",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001749",
"http://www.disease-ontology.org/api/metadata/DOID:4007",
"http://www.disease-ontology.org/api/metadata/DOID:11054",
"http://www.disease-ontology.org/api/metadata/DOID:737... |
569ed752ceceede94d000004 | summary | What is ATAC-seq? | [
"ATAC-seq captures open chromatin sites using a simple two-step protocol with 500-50,000 cells and reveals the interplay between genomic locations of open chromatin, DNA-binding proteins, individual nucleosomes and chromatin compaction at nucleotide resolution. ",
"An assay for transposase-accessible chromatin us... | [] | [
"We describe an assay for transposase-accessible chromatin using sequencing (ATAC-seq), based on direct in vitro transposition of sequencing adaptors into native chromatin, as a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol wi... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24097267",
"http://www.ncbi.nlm.nih.gov/pubmed/25679813"
] | [] | [] |
56f802ea09dd18d46b000017 | list | List human proteins that are subject to a dimer-to-tetramer transition. | [
"GAC\nSHMT2\nAMPAR\nOrai1\nOrai3"
] | [
"GAC",
"SHMT2",
"AMPAR",
"Orai1",
"Orai3"
] | [
" the ability of GAC to undergo the dimer-to-tetramer transition necessary for enzyme activation.",
"while SHMT2 undergoes a dimer-to-tetramer transition upon PLP binding.",
"AMPARs that is required for the critical dimer-to-tetramer transition.",
"We conclude that the human Orai1 and Orai3 channels undergo a... | [
"http://www.ncbi.nlm.nih.gov/pubmed/23739980",
"http://www.ncbi.nlm.nih.gov/pubmed/21080238",
"http://www.ncbi.nlm.nih.gov/pubmed/25548170",
"http://www.ncbi.nlm.nih.gov/pubmed/25619277",
"http://www.ncbi.nlm.nih.gov/pubmed/21987805"
] | [] | [] |
5335c7f2d6d3ac6a34000051 | factoid | Inhibition of which transporter is the mechanism of action of drug Canagliflozin? | [
"Inhibition of sodium glucose co-transporter 2 (SGLT2) is the major mechanism of action of canagliflozin. Canagliflozin is the first SGLT2 inhibitor to be approved in the USA for the treatment of type 2 diabetes and is under regulatory review in the EU. Other SGLT2 inhibitors include dapagliflozin and empagliflozin... | [
"sodium glucose co-transporter 2"
] | [
"During the past year, two SGLT2 inhibitors, canagliflozin and dapagliflozin, have been approved for the treatment of type 2 diabetes.",
"Currently dapagliflozin, one of the three most advanced SGLT2 inhibitors in the development (along with canagliflozin and empagliflozin), is already in the market in few Europe... | [
"http://www.ncbi.nlm.nih.gov/pubmed/24040872",
"http://www.ncbi.nlm.nih.gov/pubmed/24025022",
"http://www.ncbi.nlm.nih.gov/pubmed/22621689",
"http://www.ncbi.nlm.nih.gov/pubmed/21680987",
"http://www.ncbi.nlm.nih.gov/pubmed/23895803",
"http://www.ncbi.nlm.nih.gov/pubmed/23590413",
"http://www.ncbi.nlm.n... | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051051",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045504",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032410",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+... |
531b2fc3b166e2b80600003c | summary | What is the prognostic role of thyroid hormone in patients with heart failure? | [
"Altered thyroid profile, particularly sick euthyroid syndrome, is an independent predictor of mortality in patients with chronic heart failure, adding prognostic information to conventional clinical and functional cardiac parameters."
] | [] | [
" Cumulative survival was significantly lower among patients with free triiodothyronine < 2.12 pg/mL and among patients with brain natriuretic peptide > 686 pg/mL. In multivariate analysis, the significant independent predictors of major cardiac events were age, free triiodothyronine, and brain natriuretic peptide"... | [
"http://www.ncbi.nlm.nih.gov/pubmed/15259379",
"http://www.ncbi.nlm.nih.gov/pubmed/12963854",
"http://www.ncbi.nlm.nih.gov/pubmed/17315395",
"http://www.ncbi.nlm.nih.gov/pubmed/15694896",
"http://www.ncbi.nlm.nih.gov/pubmed/2189307",
"http://www.ncbi.nlm.nih.gov/pubmed/20024637",
"http://www.ncbi.nlm.ni... | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011379",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013963",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005067",
"http://www.disease-ontology.org/a... |
531376c8e3eabad021000012 | list | which mutations of phospholamban gene have been found to cause hypertrophic cardiomyopathy? | [
"The following mutations of the phospholamban gene have been found to be associated with hypertrophic cardiomyopathy: PLN L39X nonsense mutation; PLN Leu39Ter; PLN -42 C>G and PLN -77A-->G"
] | [
"PLN L39X nonsense mutation",
"PLN Leu39Ter",
"PLN -42 C>G",
"PLN -77A-->G"
] | [
"one L39X nonsense mutation was identified in 1 of 1,064 HCM proband cases with a family history of HCM, previously found to be negative for the current HCM genetic test panel. This mutation cosegregated with incidence of HCM in a multigenerational family.",
"The PLN -42 C>G mutation was found in one patient with... | [
"http://www.ncbi.nlm.nih.gov/pubmed/17655857",
"http://www.ncbi.nlm.nih.gov/pubmed/21167350",
"http://www.ncbi.nlm.nih.gov/pubmed/16829191",
"http://www.ncbi.nlm.nih.gov/pubmed/12705874"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002312",
"http://www.uniprot.org/uniprot/PPLA_CANFA",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154"
] |
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