anand-s/m_qalm huggingface dataset:
Question: What is the disorder in which mutations in U4atac snRNA are detected?
Answer: Mutations in U4atac snRNA are thought to be the cause of Microcephalic Osteodysplastic Primordial Dwarfism type I (MOPDI), a recessive form of developmental disorder.
Question: What is the disorder in which mutations in U4atac snRNA are detected?
Answer: Biallelic mutations of the human RNU4ATAC gene, which codes for the minor spliceosomal U4atac snRNA, cause the developmental disorder, MOPD I/TALS
Question: Where in a protein can a signal sequence be found?
Answer: Proteins have signal sequences typically resent at the most N-terminal end.
Question: What is etarfolatide used for?
Answer: Etarfolatide in the form of 99mTc-etarfolatide is used as a companion imaging agent
Question: The pathogen Fusarium graminearum affects what type of plant species?
Answer: Fusarium graminearum is a broad host pathogen threatening cereal crops in temperate regions around the world.
Question: Which part of the TNFR2 gene is genetically associated with Systemic Lupus Erythematosus?
Answer: There is a TNFR2 3' flanking region polymorphism in systemic lupus erythematosus.
Question: Which part of the TNFR2 gene is genetically associated with Systemic Lupus Erythematosus?
Answer: A TNFR2 3' flanking region polymorphism in systemic lupus erythematosus.
Question: Which part of the TNFR2 gene is genetically associated with Systemic Lupus Erythematosus?
Answer: A tnfr2 3' flanking region polymorphism in systemic lupus erythematosus has been shown to be significantly associated with selenocytoplasmic lupus erythematotosus. No transmission distortion was observed for tnpr2-196r allele.
Question: What is the indication for isradipine?
Answer: Isradipine is safe and effective when administered long-term in the treatment of hypertensive patients
Question: What is the indication for isradipine?
Answer: The calcium antagonist isradipine is used for hypertensive therapy.
Question: What protein is recruited by Crumbs to regulate tracheal development?
Answer: In Drosophila, stellate-shaped tracheal terminal cells make seamless tubes, Early endocytosis maintains normal steady-state levels of Crumbs, which recruits apical phosphorylated (active) Moesin (Moe), which in turn regulates seamless tube shape in the development of the trachea.
Question: What type of DNA repair pathways is initiated by AlkA glycosylase?
Answer: The AlkA protein (3-methyladenine DNA glycosylase II protein) is a monofunctional DNA glycosylase that recognizes a broad range of oxidized and alkylated base lesions and catalyzes the hydrolysis of the N-glycosidic bond to initiate the base excision repair (BER) pathway.
Question: What is the Formalin test used for?
Answer: And persistent pain produced by peripheral tissue injury and inflammation was modeled by formalin test.
Question: What is the Formalin test used for?
Answer: Persistent pain, In vivo antinociceptive activity, is produced by peripheral tissue injury and inflammation and is modeled by formalin test.
Question: Which molecule is inhibited by ivosidenib?
Answer: Ivosidenib (AG-120) is an oral, targeted, small-molecule inhibitor of mutant IDH1. It used an effective treatment of leukemia.
Question: Which R/Bioconductor package has been developed for gene expression signature searching?
Answer: SignatureSearch is an R/Bioconductor package that integrates a suite of existing and novel algorithms into an analysis environment for gene expression signature (ESE) searching combined with functional enrichment analysis (FEA) and visualization methods to facilitate the interpretation of the search results.
Question: Which R/Bioconductor package has been developed for gene expression signature searching?
Answer: SignatureSearch is an R/Bioconductor package that integrates a suite of existing and novel algorithms into an analysis environment for gene expression signature (ESE) searching combined with functional enrichment analysis (FEA) and visualization methods to facilitate the interpretation of the search results. To identify which processes are predominantly modulated in the GESS results, FEA methods are combined with drug-target network visualization tools. The provided analysis tools are useful for studying the effects of genetic, chemical and environmental perturbations on biological systems, as well as searching single cell GES databases to identify novel network connections or cell types
Question: Which R/Bioconductor package has been developed for gene expression signature searching?
Answer: SignatureSearch is an R/Bioconductor package that integrates a suite of existing and novel algorithms into an analysis environment for gene expression signature (GES) searching combined with functional enrichment analysis (FEA) and visualization methods to facilitate the interpretation of the search results.
Question: Which R/Bioconductor package has been developed for gene expression signature searching?
Answer: SignatureSearch is an R/Bioconductor package that integrates a suite of existing and novel algorithms into an analysis environment for gene expression signature (GES) searching combined with functional enrichment analysis (FEA) and visualization methods to facilitate the interpretation of the search results. The provided analysis tools are useful for studying the effects of genetic, chemical and environmental perturbations on biological systems, as well as searching single cell GES databases to identify novel network connections or cell types.
Question: Which R/Bioconductor package has been developed for gene expression signature searching?
Answer: SignatureSearch is an R/Bioconductor package that integrates a suite of existing and novel algorithms into an analysis environment for gene expression signature (ANS) searching combined with functional enrichment analysis (FEA) and visualization methods to facilitate the interpretation of the search results.
Question: Which effects create neighborhoods of transcriptional regulation in eukaryotes?
Answer: Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes. Here, we present cross-organismic evidence suggesting that most EP pairs are compatible, largely determined by physical proximity rather than specific interactions. we find that the transcription of gene neighbors is correlated over distances that scale with genome size. We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation.
Question: Which effects create neighborhoods of transcriptional regulation in eukaryotes?
Answer: Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes Here, we present cross-organismic evidence suggesting that most EP pairs are compatible, largely determined by physical proximity rather than specific interactions.
Question: Which effects create neighborhoods of transcriptional regulation in eukaryotes?
Answer:  we propose that enhancer sharing is commonplace among eukaryotes, and that ep distance is an important layer of information in gene regulation.
Question: Which effects create neighborhoods of transcriptional regulation in eukaryotes?
Answer: Enhancers physically interact with transcriptional promoters, looping over distances that can span multiple regulatory elements. We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation.
Question: Which effects create neighborhoods of transcriptional regulation in eukaryotes?
Answer: Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes
Question: Which effects create neighborhoods of transcriptional regulation in eukaryotes?
Answer: Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes  We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation.
Question: Dasatinib and Blinatumomab are used for treatment of which disease?
Answer: Dasatinib and Blinatumomab produces molecular responses in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia.
Question: Which calcium channels does ethosuximide target?
Answer: Ethosuximide blocks the T-type calcium channels.
Question: Which disease is rated using the Fahn-Tolosa-Marin scale?
Answer: The Fahn-Tolosa-Marin clinical tremor rating scale is used for essential tremor.
Question: What impacts stability of genomic imprinting in mouse pluripotent stem cells?
Answer: A susceptibility locus on chromosome 13 profoundly impacts the stability of genomic imprinting in mouse pluripotent stem cells.
Question: What is the genetic basis of Rubinstein-Taybi syndrome?
Answer: 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 16p13.3 or mutations or deletions 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%). Direct sequencing of CREBBP performed in 13 RSTS patients identified the three zinc fingers (CH1, CH2, CH3) and HAT domain as mutational hotspots. Thus about 55% of patients have cytogenetic or molecular abnormalities in the Crebbp or E1A binding protein p300 (Ep300) gene, leaving the diagnosis in 45% of patients to rest on clinical features only.
Question: Where, in the body, would the Cobb-Stainsby excision arthroplasty be performed?
Answer: The Cobb-Stainsby forefoot arthroplasty combines partial phalangectomy ( Stainsby ) with extensor tendon transfer to the metatarsal head ( Cobb ) .
Question: Where, in the body, would the Cobb-Stainsby excision arthroplasty be performed?
Answer: The Cobb-Stainsby forefoot arthroplasty combines partial phalangectomy (Stainsby) with extensor tendon transfer to the metatarsal head (Cobb)
Question: Where, in the body, would the Cobb-Stainsby excision arthroplasty be performed?
Answer: The Cobb-Stainsby forefoot arthroplasty combines partial phalangectomy (Stainsby) with extensor tendon transfer to the metatarsal head (Cobb).
Question: Where, in the body, would the Cobb-Stainsby excision arthroplasty be performed?
Answer: The Cobb-Stainsby forefoot arthroplasty combines partial phalangectomy (Stainsby) with extensor tendon transfer
Question: Which is the most known bacterium responsible for botulism (sausage-poisoning)?
Answer: 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 other clostridia, and is one of the most dangerous toxin in the world.
Question: What happens to retrotransposons during ageing?
Answer: Retrotransposons are activated as organisms age
Question: Which is the  subcellular localization of ERAP2?
Answer: Endoplasmic reticulum aminopeptidase 2 (ERAP2) is localized to the luminal side of the endoplasmic reticulum.
Question: Which signaling pathway does sonidegib inhibit?
Answer: Sonidegib is a Hedghog signalling pathway inhibitor.
Question: What is the radiation-induced CD8 lymphocyte apoptosis (RILA) assay used for?
Answer: Radiation-induced lymphocyte apoptosis (RILA) has been suggested as a predictive assay for adverse late reactions after radiotherapy.
Question: Where are pannexins localized?
Answer: Pannexins (Panxs) are a multifaceted family of ion and metabolite channels that play key roles in a number of physiological and pathophysiological settings. These single membrane large-pore channels exhibit a variety of tissue, cell type, and subcellular distributions.
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: The expression of genes both from the endogenous locus and from transgenes is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR) Targeted deletion of 5'HS1 and 5’HS4 of the beta-globin locus Control region reveals additive activity of the sites . The LCR is composed of a series of 5 DNase . sites (5'HSs), that form in the nucleus of erythroid precursors .
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: Mammalian beta-globin loci are composed of multiple orthologous genes whose expression is erythroid specific and developmentally regulated. The expression of these genes both from the endogenous locus and from transgenes is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR). The LCR encompasses 5 major HSs, each of which is highly homologous among humans, mice, and other mammals. The LCR encompasses 6 DNaseI hypersensitive sites (HSs) that bind transcription factors.
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: Mammalian beta-globin loci is composed of multiple orthologous genes whose expression is erythroid specific and developmentally regulated . Globin gene expression is regulated by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR) The LCR encompasses 5 major HSs, each of which is highly homologous among humans, mice, and other mammals .
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: The expression of genes both from the endogenous locus and from transgenes is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR) The LCR is composed of a series of 5 DNase . sites (5'HSs), that form in the nucleus of erythroid precursors . In the chromatin of the epsilon globin gene, four DNase. sites that are located 6-18kb 5' of the . epsilon, Ggamma, Agamma, delta, beta .
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: Mammalian beta-globin expression is strongly influenced by a linked 15-kilobase region of clustered DNaseI hypersensitive sites (HSs) known as the locus control region (LCR). The LCR encompasses 5 major HSs, termed 5'HS1-5, located 6-22 Kb upstream of the epsilon-globin gene, each of which is highly homologous among humans, mice, and other mammals.
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: Mammalian beta-globin loci are composed of multiple orthologous genes whose expression is erythroid specific and developmentally regulated. Globin gene expression is regulated, in part, by the locus control region, which physically consists of five DNaseI-hypersensitive sites located 6-22 Kb upstream of the epsilon -globin gene.
Question: How many DNaseI hypersensitive sites (DHS) mark the murine beta globin locus region?
Answer: In the chromatin of erythroid cells the locus control region is characterized by four DNaseI hypersensitive sites that are located 6-18kb 5' of the epsilon globin gene . Expression of the five beta-like globin genes (epsilon, Ggamma, Agamma, delta, beta) in the human beta-globin locus depends on enhancement by a linked 15-kilobase region .
Question: What is the results of inactivated ANGPLT3?
Answer: Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia
Question: What is the function of the HSJ1 proteins?
Answer: HSJ1 is a neuronal enriched member of the HSP40/DNAJ co-chaperone family.
Question: What is the role of the UBC9 enzyme in the protein sumoylation pathway?
Answer: The small ubiquitin-like modifier (SUMO) pathway in eukaryotes is an essential post-translational modification required for a variety of cellular processes, development and organelle biogenesis. SUMO-conjugating enzyme (Ubc9) is the sole conjunction enzyme in the SUMO pathway.
Question: Which is the clinical meaning of the presence of delayed enhancement in patients with hypertrophic cardiomyopathy?
Answer: Occurrence of myocardial fibrosis in hypertrophic cardiomyopathy is associated with left atrial and ventricular dysfunction as well as with the severity of heart failure symptoms and arrhythmic risk factors.
Question: What is a popular mesaure of gene expression in RNA-seq experiments?
Answer: A commonly used measure for gene expression in RNA-seq experiments is  Reads Per Kilobase per Million mapped reads (RPKM). In ocasions, and to account for partially mapped read, read Fragments per Kilobase per Million mapped reads (FPKM) is alternatively used.
Question: Which is the prognostic impact of hypothyroidism in patients with acute myocardial infarction?
Answer: Thyroid dysfunction, particularly low T3 syndrome,  is a strong predictor of short-term and long-term poor prognoses in patients with acute myocardial infarctions.
Question: In which way does DNA hydroxymethylation affect patients with Systemic Lupus Erythematosus?
Answer: DNA hydroxymethylation contributes to the aberrant regulation of genes transcription in the pathogenesis of SLE.  A combined analysis of differential DNA hydroxymethylation profile and gene expression profile in SLE CD4(+) T cells, shows 131 genes with increased 5-hmC in promoter regions and up-regulated expression in SLE CD4(+) T cells compared with healthy controls, including selected immune-related genes, i.e. SOCS1, NR2F6 and IL15RA.
Question: In which way does DNA hydroxymethylation affect patients with Systemic Lupus Erythematosus?
Answer: Altered DNA methylation and hydroxymethylation as well as histone modifications mediate changes in chromatin accessibility and gene expression in immune cells from SLE patients. 5-Hydroxymethylcytosine (5-hmC) is a newly discovered modified form of cytosine suspected to be an important epigenetic modification in embryonic development, cell differentiation and cancer.
Question: Which tool is used for the identification of recurrent variants in noncoding regions?
Answer: LARVA is an integrative framework for large-scale analysis of recurrent variants in noncoding annotations. It integrates variants with a comprehensive set of noncoding functional elements, modeling the mutation counts of the elements with a β-binomial distribution to handle overdispersion. LARVA, moreover, uses regional genomic features such as replication timing to better estimate local mutation rates and mutational hotspots. Furthermore, LARVA highlights several novel highly mutated regulatory sites that could potentially be noncoding drivers.
Question: Which NADPH oxidase family member requires interaction with NOXO1 for function?
Answer: NADPH oxidase 1 (NOX1) requires interaction with NOXO1 for function.
Question: Which class of disorders are caused by AMPA receptor GluA2 subunit defects?
Answer: Mutations in the AMPA receptor GluA2 subunit cause a variety of neurodevelopmental disorders including autism spectrum disorder.
Question: Which class of disorders are caused by AMPA receptor GluA2 subunit defects?
Answer: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Mutations lead to a decrease in agonist-evoked current mediated by mutant subunits.
Question: Which class of disorders are caused by AMPA receptor GluA2 subunit defects?
Answer: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes.
Question: Which class of disorders are caused by AMPA receptor GluA2 subunit defects?
Answer: AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. De-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
Question: Which class of disorders are caused by AMPA receptor GluA2 subunit defects?
Answer: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Question: Which key gene is involved in interstitial 6q25 microdeletion syndrome?
Answer: Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, microcephaly, and non-specific multiple organ anomalies. ARID1B is the key gene behind 6q microdeletion syndrome.
Question: Which key gene is involved in interstitial 6q25 microdeletion syndrome?
Answer: Interstitial 6q25 microdeletion syndrome (ICS) is a rare autosomal dominant disorder characterized by loss-of-function mutations of the ARID1B gene and severe intrauterine and post-natal growth retardation
Question: Which key gene is involved in interstitial 6q25 microdeletion syndrome?
Answer: The critical region for the interstitial 6q microdeletion phenotype was mapped to 6q24-6q25, particularly the 6q25.3 region containing the genes ARID1B and ZDHHC14.
Question: Which key gene is involved in interstitial 6q25 microdeletion syndrome?
Answer: Interstitial 6q25 microdeletion syndrome (IL-6q25) is a rare autosomal dominant disorder caused by mutations in the ARID1B gene, which encodes a major regulator of heme oxygenase 1 (HMOX1), resulting in a loss of a ubiquitously expressed protein, gigaxonin.
Question: Which key gene is involved in interstitial 6q25 microdeletion syndrome?
Answer: Interstitial 6q25 microdeletion syndrome (IPS) is a rare autosomal dominant disorder characterized by loss-of-function mutations in the ARID1B gene, which encodes a major regulator of heme oxygenase 1 (HMOX1), and many other genes involved in heme catabolism.
Question: Which key gene is involved in interstitial 6q25 microdeletion syndrome?
Answer: Interstitial 6q25 microdeletion syndrome (ICS) is a rare autosomal recessive genetic disorder characterized by loss-of-function mutations in the ARID1B gene, which encodes a major regulator of heme oxygenase activity.
Question: What does isradipine do to L-type channels?
Answer: Isradipine antagonizes/blocks the L-type channels.
Question: What is another name for AZD0530?
Answer: AZD0530 is also known as saracatinib.
Question: Where is the protein Bouncer located?
Answer: Bouncer is membrane bound.
Question: Which transcription factor binding site is contained in Alu repeats?
Answer: A novel abundant NF-κB-binding site resides in specialized Alu-repetitive elements having the potential for long range transcription regulation, thus suggesting that in addition to its known role, NF-κB has a primate-specific function and a role in human evolution.
Question: Which transcription factor binding site is contained in Alu repeats?
Answer: Remarkably, we identified a novel abundant NF-κB-binding site residing in specialized Alu-repetitive elements having the potential for long range transcription regulation, thus suggesting that in addition to its known role, NF-κB has a primate-specific function and a role in human evolution.
Question: Which transcription factor binding site is contained in Alu repeats?
Answer: Remarkably, we identified a novel abundant NF-κB-binding site residing in specialized Alu-repetitive elements having the potential for long range transcription regulation, thus suggesting that in addition to its known role, NF-κB has a primate-specific function and a role in human evolution. A de novo motif enrichment analysis uncovers secondary TFBSs (AP1, SP1) at characteristic distances from NF-κB/RelA TFBSs.
Question: What disease is small bowel lymphoma commonly associated with
Answer: Small bowel lymphoma is commonly associated with celiac disease.