anand-s/m_qalm huggingface dataset:
Question: What causes "Puffy hand syndrome"?
Answer: Puffy hand syndrome is a complication of intravenous drug abuse.
Question: What the chromsomal location of the gene that is deleted in Potocki-Shaffer syndrome?
Answer: In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2
Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome caused by heterozygous deletion of 11p11.2p12.
Question: What is the function of the transcriptional co-activator p300?
Answer: The transcriptional co-activator p300 is a histone acetyltransferase (HAT) that is typically recruited to transcriptional enhancers and regulates gene expression by acetylating chromatin.
Question: What gene test is recommended for clopidogrel?
Answer: The genetic test recommended for clopidogrel is CYP2C19 genotyping.
Question: What is dovitinib?
Answer: Dovitinib (TKI258) is a tyrosine kinase receptor inhibitor with potent activity against fibroblast growth factor receptor (FGFR) and vascular endothelial growth factor receptor (VEGFR).
Question: Which R / bioconductor package is used for performing SNP enrichment analysis?
Answer: traseR is an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD.
Question: How many patients were enrolled in the FREEDOMS clinical trial?
Answer: FREEDOMS study, a randomised, double-blind study included 1272 patients with relapsing-remitting MS.
Question: Which company originally developed the drug Afrezza?
Answer: The inhaled insulin Technosphere, also known as Afrezza is produced by the MannKind Corporation.
Question: What is the inheritance of Barth syndrome?
Answer: Barth syndrome (BTHS) has an X-linked recessive pattern of inheritance.
Question: Which master regulator drives liver development?
Answer: Hepatocyte nuclear factor (HNF)4α regulates fetal liver development.
The HNF4α plays a major role in liver development, but it's not the only factor. There's a lot of other factors that play a role, but that's the big one.
Question: Which disease is Dasatinib used to treat?
Answer: Patients with chronic myeloid leukemia
Dasatinib is a second-generation TKI with a well-established safety and efficacy profile in chronic myeloid leukemia patients, who are refractory or intolerant to imatinib. A recent study reported that treatment-free remission (TFR) of chronic myeloid leukemia (CML) after dasatinib (Das) treatment was significantly associated with natural killer (NK) cell proliferation in the peripheral blood.
Dasatinib is a pan receptor tyrosine kinase inhibitor (RTK) used in the treatment of chronic myelogenous leukemia (CML).
chronic myeloid leukemia
Dasatinib is a small molecule covalently binding and inhibiting BCR-ABL receptor. It is used for treatment of chronic myelogenous leukemia (CML) by targeting the integrins avb3 and avb5 over-expressed on B cells.
Question: Which protein phosphatase has been found to interact with the heat shock protein, HSP20?
Answer: Protein phosphatase-1 activity is regulated by two binding partners, inhibitor-1 and the small heat shock protein 20, Hsp20. Cell fractionation, coimmunoprecipitation, and coimmunolocalization studies, revealed an association between Hsp20 and PP1. Small heat shock protein 20 interacts with protein phosphatase-1 and enhances sarcoplasmic reticulum calcium cycling.
Moreover, protein phosphatase-1 activity is regulated by two binding partners, inhibitor-1 and the small heat shock protein 20, Hsp20. Small heat shock protein 20 interacts with protein phosphatase-1 and enhances sarcoplasmic reticulum calcium cycling.
Question: Which compound is a specific inhibitor for Nox1 and Nox4?
Answer: GKT136901 is a specific inhibitor of Nox1 and Nox4.
Question: Which key gene is involved in syndromic obesity phenotype of patients with 1p21.3 microdeletions?
Answer: MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21. 3 microdeletions.
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.
The MIR137 gene. It is the one that is responsible for the obesity phenotype of patients with 1p21.3 microdeletions.
The MIR137 gene. It is the one that is responsible for the obesity phenotype of patients carrying 1p21.3 microdeletions.
Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. MIR137 is suggested as the mediator of the obesity phenotype of patients carrying 1p21.3 microdeletions.
Question: What is inhibited by a drug rilotumumab?
Answer: Rilotumumab is a fully human monoclonal antibody that selectively targets the hepatocyte growth factor (HGF). It is used for treatment of cancer.
Question: Which syndrome is NHE6 associated with?
Answer: Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia.
Question: Erenumab, used to treat migraine headaches, binds to what protein?
Answer: Erenumab binds to the CGRP receptor to treat migraine headaches
Question: Roughly how many base pairs are in the human mitochondrial genome or mtDNA?
Answer: The mitochondrial genome, mtDNA, is  16569 base pairs.
The number of base pairs in the human mitochondrial genome (mhl) is currently estimated at 16569.
Question: Which R/Bioconductor package has been developed for network-based differential expression analysis?
Answer: INDEED is an R/Bioconductor package for network based differential expression analysis. INDEED allows users to construct a sparse network based on partial correlation, and to identify biomolecules that have significant changes both at individual expression and pairwise interaction levels.
Question: What is the target of galcanezumab?
Answer: Galcanezumab is a monoclonal antibody against calcitonin gene-related peptide (CGRP), is one of a novel class of new medicines for migraine prevention.
Question: Which is the molecular mechanism underlying K-ras alterations in carcinomas?
Answer: Activating point mutations most frequently in codon 12
Question: Which member of the human mycobiota is associated to atherosclerosis?
Answer: Mucor racemosus is negatively associated with carotid atherosclerosis
Question: Which disease has been associated to a disruptive ALX1 protein?
Answer: Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.
Question: Which kinase is inhibited by Tripolin A?
Answer: Tripolin A reduced the localization of pAurora A on spindle microtubules (MTs), affected centrosome integrity, spindle formation and length, as well as MT dynamics in interphase, consistent with Aurora A inhibition by RNAi or other specific inhibitors, such as MLN8054 or MLN8237. Interestingly, Tripolin A affected the gradient distribution towards the chromosomes, but not the MT binding of HURP (Hepatoma Up-Regulated Protein), a MT-associated protein (MAP) and substrate of the Aurora A kinase. Therefore Tripolin A reveals a new way of regulating mitotic MT stabilizers through Aurora A phosphorylation. Mitotic regulators exhibiting gain of function in tumor cells are considered useful cancer therapeutic targets for the development of small-molecule inhibitors.
Tripolin A inhibits Aurora A kinase activity both in vitro and in human cells.
Question: Which gene strand is targeted by transcription-coupled repair (TCR)?
Answer: Nucleotide Excision Repair (NER) removes a variety of helix-distorting lesions from DNA. It has two sub-pathways, the global genome (gg) NER and the transcription-coupled repair (TCR). TCR is triggered when a RNA polymerase, translocating along the transcribed strand, is arrested at a lesion or unusual structure in the DNA. TCR is dedicated to target and repair the transcribed strand of an active gene.
Question: Which cancer can be treated with Darolutamide?
Answer: Darolutamide is used for treatment of nonmetastatic castration-resistant prostate cancer.
Question: Which is the genetic defect causing Neurofibromatosis type 1?
Answer: Neurofibromatosis type 1 (NF1) is due to all types of mutations in the neurofibromin (NF1) gene.
Question: Which is the physiological target for LeuRS translational quality control?
Answer: QUALITY CONTROL
The physiological target for LeuRS translational quality control is norvaline.
The fidelity of protein synthesis depends on the capacity of aminoacyl-tRNA synthetases (AARSs) to couple only cognate amino acid-tRNA pairs. If amino acid selectivity is compromised, fidelity can be ensured by an inherent AARS editing activity that hydrolyses mischarged tRNAs. Rather, as shown by kinetic, structural and in vivo approaches, the prime biological function of LeuRS editing is to prevent mis-incorporation of the non-standard amino acid norvaline.
Question: Which tool has been developed for visualization of non-covalent contacts?
Answer: Visualizations of biomolecular structures empower us to gain insights into biological functions, generate testable hypotheses, and communicate biological concepts. Typical visualizations (such as ball and stick) primarily depict covalent bonds. In contrast, non-covalent contacts between atoms, which govern normal physiology, pathogenesis, and drug action, are seldom visualized. The Protein Contacts Atlas has been developed as an interactive resource of non-covalent contacts from over 100,000 PDB crystal structures. This resource enables researchers from different disciplines to investigate diverse questions in the framework of non-covalent contacts, including the interpretation of allostery, disease mutations and polymorphisms, by exploring individual subunits, interfaces, and protein-ligand contacts and by mapping external information.
Question: What gene is mutated in Huntington's Disease patients?
Answer: Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene HTT encoding the Huntingtin protein on chromosome 4.
Huntington's disease (HD; OMIM 143100), a progressive neurodegenerative disorder, is caused by an expanded trinucleotide CAG (polyQ) motif in the huntingtin gene.
(HD) is a neurodegenerative disorder that is caused by abnormal expansion of CAG repeats in the HTT gene.
Huntington's disease (HD) is a neurodegenerative disorder that is caused by abnormal expansion of CAG repeats in the HTT gene.
Question: Which protein mediates gene loop formation in the yeast S. cerevisiae?
Answer: Moreover, looping is dependent upon the general transcription factor TFIIB: the E62K (glutamic acid 62 --> lysine) form of TFIIB adversely affects looping at every gene tested, including BLM10, SAC3, GAL10, SEN1, and HEM3. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP.
Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP
Gene looping, defined as the interaction of the promoter and the terminator regions of a gene during transcription, requires transcription factor IIB (TFIIB).
A transcription-independent role for TFIIB in gene looping.
Question: Where in the body, is ghrelin secreted?
Answer: Ghrelin, an orexigenic peptide, is secreted from endocrine cells in the gastric mucosa.
Ghrelin , an orexigenic peptide , is secreted from endocrine cells in the gastric mucosa .
BACKGROUND: Ghrelin, an orexigenic peptide, is secreted from endocrine cells in the gastric mucosa.
ghrelin, an orexigenic peptide, is secreted from endocrine cells in the gastric mucosa.
Question: Phlorotannin is extracted from what plant?
Answer: Phlorotannin is extracted from Brown Seaweed or brown Algae
phlorotannins present in brown seaweeds Phlorotannins, phenolic compounds produced exclusively by seaweeds
Question: What is the main role of Ctf4 in dna replication?
Answer: coupling MCM2-7 to replicative polymerases is an important feature of the regulation of chromosome replication in eukaryotes, and highlight a key role for Ctf4 in this processAnd-1/Ctf4 is therefore a new replication initiation factor that brings together the MCM2-7 helicase and the DNA pol alpha-primase complex, analogous to the linker between helicase and primase or helicase and polymerase that is seen in the bacterial replication machinery
Ctf4 coordinates the progression of helicase and DNA polymerase alpha.  Mcm10 and And-1/CTF4 recruit DNA polymerase alpha to chromatin for initiation of DNA replication. And-1/Ctf4 is therefore a new replication initiation factor that brings together the MCM2-7 helicase and the DNA pol alpha-primase complex, analogous to the linker between helicase and primase or helicase and polymerase that is seen in the bacterial replication machinery.
Question: In which cells are A-type lamins expressed?
Answer: In the rat brain, lamin A and C are expressed in relatively equal amounts, while the expressions of lamin B1 and B2 vary depending on the cell type. Human cells with reduced expression of the major B-type lamin protein, lamin B1, were generated using RNA interference. In addition, horizontal cells and a subpopulation of retinal ganglion cells expressed lamin A and C, while photoreceptor cells expressed neither lamin A nor C, and all other retinal neurons expressed lamin C only. Parallel in vivo experiments showed that treatment with thioglycollate caused the percentage of lamin A/C-positive peritoneal macrophages to increase from 5 to 80% between Days 0 and 6.
Early embryonic cells and stem cells of mammals generally possess only lamin B while lamins A and C appear later during differentiation. Northern analysis and immunoblotting demonstrated that lamin A/C mRNA and protein were not detectable in some human cell lines whereas lamin B1 was always present. Hemopoietic cells from blood and bone marrow of mammals usually do not express lamins A/C but only lamin B, and this feature distinguishes these cells from the vast majority of somatic cells of the adult animal, which reveal lamins A/C as well as lamin B.
Question: Which gene controls the consistency of cerumen (ear wax)?
Answer: A single nucleotide polymorphism (SNP) in ABCC11 affects the cerumen VOC profiles of individuals from African, Caucasian, and Asian descent Our findings also reveal that ABCC11 genotype alone does not predict the type and relative levels of volatiles found in human cerumen, and suggest that other biochemical pathways must be involved
A single nucleotide polymorphism (SNP) in ABCC11 affects the cerumen VOC profiles of individuals from African, Caucasian, and Asian descent
A single nucleotide polymorphism (SNP) in ABCC11 affects the cerumen VOC profiles of individuals from African, Caucasian, and Asian descent ABCC11 encodes an ATP-driven efflux pump protein that plays an important function in ceruminous apocrine glands of the auditory canal and the secretion of axillary odor precursors.
Recent studies link a single nucleotide polymorphism (SNP) in the adenosine triphosphate (ATP) binding cassette, sub-family C, member 11 gene (ABCC11) to the production of different types of axillary odorants and cerumen. ABCC11 encodes an ATP-driven efflux pump protein that plays an important function in ceruminous apocrine glands of the auditory canal and the secretion of axillary odor precursors.
Question: Which gene is the paralog of yeast UPC2?
Answer: the related transcription factors Ecm22 and Upc2 play a crucial role in Saccharomyces cerevisiae filamentation.
Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation. The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways. 
zinc cluster proteins Upc2 and Ecm22 promote filamentation
The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways.Here, we examine the role of the related transcription factors ecm22 and upc2 in saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways.Here, we examine the role of the related transcription factors ecm22 and upc2 in saccharomyces cerevisiae filamentation.
The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways. Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation. 
The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways. Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation.
Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation. The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways.
Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation.The zinc cluster proteins Upc2 and Ecm22 promote filamentation in Saccharomyces cerevisiae by sterol biosynthesis-dependent and -independent pathways.
Here, we examine the role of the related transcription factors Ecm22 and Upc2 in Saccharomyces cerevisiae filamentation.
Question: What is the enzymatic activity of the breast cancer associated gene BRCA1?
Answer: 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 diverse signaling pathways.
Discovering the precise function of the breast and ovarian specific tumor suppressor, BRCA1, has proven to be quite complicated. The protein encoded by BRCA1 interacts in vivo with the related BARD1 protein to form a heterodimeric complex that acts as a ubiquitin E3 ligase. E3-ubiquitin ligase activity is the only known enzymatic activity of BRCA1, which is mediated by the N-terminal RING finger domain.
Question: What kind of mutations cause GRK1 associated Oguchi disease?
Answer: Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Hutchinson-Gilford disease as well as congenital stationary night blindness in around 90% of patients.
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB).
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare autosomal recessive disorder characterized by congenital stationary night blindness (CSNB).
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB)
Biallelic mutations in G-Protein coupled receptor kinase 1 cause Oguchi disease. Oguchi disease is a rare subtype of congenital stationary night blindness.
Question: In which cells does TLR7 escape X-chromosome inactivation?
Answer: The tlr7 gene encodes by an x chromosome locus. Tlr7 is encoded by an x-chromosome inactivation in immune cells from women and klinefelter syndrome patients.
TLR7 evades silencing by X chromosome inactivation in immune cells.
TLR7 escape X-chromosome inactivation by RNA polymerase II (ChIP-seq) DNA methylation to produce active TLR7 in immune cells
TLR7 escape X-chromosome inactivation by becoming activated in response to DNA damage caused by biallelic loss-of-function mutations on the X chromosome. In addition, TLR7 expression can also be observed in a dose-dependent manner in immune cells, such as epithelial cells, monocytes and macrophages.
immune cells
TLR7 is encoded by an X chromosome locus, and we examined here whether the TLR7 gene evades silencing by X chromosome inactivation in immune cells from women and Klinefelter syndrome males
Question: What is the genetic basis of Ohdo syndrome?
Answer: MED12 cause X-linked Ohdo syndromeIn
Mutations in MED12 cause X-linked Ohdo syndrome
Mutations in MED12 cause X-linked Ohdo syndrome The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.
Mutations in MED12 cause X-linked Ohdo syndrome In the two families, MED12 missense mutations (c.3443G>A [p.Arg1148His] or c.3493T>C [p.Ser1165Pro]) segregating with the phenotype were identified.
FG syndrome, Lujan syndrome, and Ohdo syndrome, the Maat-Kievit-Brunner type, have been described as distinct syndromes with overlapping non-specific features and different missense mutations of the MED12 gene have been reported in all of them. Mutations in MED12 cause X-linked Ohdo syndrome
The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.
Mutations in MED12 cause X-linked Ohdo syndrome FG syndrome, Lujan syndrome, and Ohdo syndrome, the Maat-Kievit-Brunner type, have been described as distinct syndromes with overlapping non-specific features and different missense mutations of the MED12 gene have been reported in all of them.
MED12
Question: What cellular process is the protein clathrin involved in?
Answer: Clathrin is a central regulator of endocytosis in all eukaryotes that plays a role in bacterial and plastid differentiation
Receptor-mediated endocytosis proceeds by transfer of receptor-ligand complexes from clathrin-coated pits at the cell surface to uncoated endocytic vesicles termed receptosomes (or endosomes). while clathrin mediated endocytosis w
Clathrin is a central regulator of endocytosis in all eukaryotes that plays a critical role in the maintenance of cellular homeostasis
while clathrin mediated endocytosis w. Receptor-mediated endocytosis proceeds by transfer of receptor-ligand complexes from clathrin-coated pits at the cell surface to uncoated endocytic vesicles termed receptosomes (or endosomes).
Receptor-mediated endocytosis proceeds by transfer of receptor-ligand complexes from clathrin-coated pits at the cell surface to uncoated endocytic vesicles termed receptosomes (or endosomes)
Clathrin plays a critical role in endocytosis and in doing so is crucial for maintaining cellular homeostasis
Receptor-mediated endocytosis proceeds by transfer of receptor-ligand complexes from clathrin-coated pits at the cell surface to uncoated endocytic vesicles termed receptosomes (or endosomes).
Clathrin plays a critical role in endocytosis and in many other cellular processes