anand-s/m_qalm huggingface dataset:
Question: Which signaling pathway does LY294002 inhibit?
Answer: LY294002, can block the PI3K/AKT signaling pathway.
Question: Which disease is caused by mutations in the gene PRF1?
Answer: The presence of mutations in PRF1, UNC13D, STX11 and STXBP2 genes in homozygosis or compound heterozygosis results in immune deregulation. Most such cases lead to clinical manifestations of haemophagocytic lymphohistiocytosis (HLH).
Question: What protein is encoded by the GRN gene?
Answer: Loss-of-function mutations in the gene encoding for the protein progranulin (PGRN), GRN, are one of the major genetic abnormalities involved in frontotemporal lobar degeneration.
Question: What is disrupted by ALS- and FTD-associated missense mutations in TBK1?
Answer: ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.
Question: What is the mode of action of primaquine?
Answer: Primaquine (PQ) not only eliminates P. falciparum gametocytes but also kills liver dormant forms of P. vivax and P. ovale.
Question: Proteins in the karyopherin family (Kaps) are associated with what cellular process?
Answer: Nuclear translocation of large proteins is mediated through specific protein carriers, collectively named karyopherins (importins, exportins and adaptor proteins)
Question: What percentage of human genes have no introns?
Answer: Intronless genes (IGs) constitute approximately 3% of the human genome.
Intronless genes, which constitute 3 percent of the human genome, differ from intron-containing genes in evolution and function.
Intronless genes (IGs) constitute approximately 3% of the human genome. Intronless genes (IGs) fraction varies between 2.7 and 97.7% in eukaryotic genomes.
Intronless genes (IGs) constitute approximately 3% of the human genome. Intronless genes, which constitute 3 percent of the human genome, differ from intron-containing genes in evolution and function.
3 percent of the human genome
About 3% of human genes have no introns.  URL_0
Question: What is caused by biallelic variants in PCDHGC4?
Answer: Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Question: What induces downstream of gene (DoG) readthrough transcription?
Answer: Stress-induced transcriptional readthrough generates very long downstream of gene containing transcripts (DoGs), which may explain up to 20% of intergenic transcription. Massive induction of transcriptional readthrough generates downstream of gene-containing transcripts (DoGs) in cells under stress condition. Ca2+ signaling mediates reduced transcription termination in response to certain stress conditions. This reduction allows readthrough transcription, generating a highly inducible and diverse class of downstream of gene containing transcripts (DoGs) that we have recently described.
osmotic stress
DoGs are induced by osmotic stress at the level of transcription by a mechanism that depends on calcium release from the endoplasmic reticulum mediated by IP3 receptors.
Question: What is the effect of rHDL-apoE3 on endothelial cell migration?
Answer: rHDL-apoE3 has been shown to promote endothelial cell migration.
Question: Hampton’s hump is characteristic to which disease?
Answer: Hampton’s hump is characteristic to pulmonary embolism.
Question: What is the activity of Indoleamine 2,3-dioxygenase 1.
Answer: Indoleamine 2,3-dioxygenase 1 (IDO1), a known immunosuppressive enzyme that catalyzes the rate-limiting step in the oxidation of tryptophan (Trp) to kynurenine (Kyn), has received increasing attention as an attractive immunotherapeutic target for cancer therapy.
Question: What is the purpose of  Macropinocytosis?
Answer: Macropinocytosis is an endocytic process, which involves the engulfment of extra-cellular content in vesicles known as macropinosomes.
Question: Which was the first species in which a de novo gene emergence ("gene birth") was reported?
Answer: New genes can arise through duplication of a pre-existing gene or de novo from non-coding DNA, providing raw material for evolution of new functions in response to a changing environment. A prime example is the independent evolution of antifreeze glycoprotein genes (afgps) in the Arctic codfishes and Antarctic notothenioids to prevent freezing.
Question: Which type of cancer has been suggested as a strategy for potential small-molecule inhibition of METTL3?
Answer: Small-molecule inhibition of METTL3 is a strategy against myeloid leukaemia. Targeting of RNA-modifying enzymes represents a promising avenue for anticancer therapy.
Small-molecule inhibition of METTL3 as a strategy against myeloid leukaemia.
Question: Where are the PUX proteins found?
Answer: PUX proteins specifically associate with the nucleoskeleton underneath the INM.
Question: Which substance use is associated with Brodifacoum poisoning?
Answer: Brodifacoum poisoning was linked to marijuana use.
Question: What is Alphafold?
Answer: AlphaFold is a novel machine learning approach that incorporates physical and biological knowledge about protein structure, leveraging multi-sequence alignments, into the design of the deep learning algorithm.
Question: Which receptor is targeted by Spesolimab?
Answer: Spesolimab is a novel anti-interleukin-36 receptor antibody.
Question: What is the effect of grapefruit juice on CYP3A4?
Answer: Grapefruit juice inhibits CYP3A4 activity.
Question: Which is the major clinical feature observed in FDXR-associated disease?
Answer: FDXR-associated disease is a phenotypically heterogeneous disorder with retinal dystrophy being a major clinical feature observed in this cohort.
Retinal dystrophy is a major clinical feature observed in FDXR-associated disease.
Question: Where is the the protein perforin localized?
Answer: Perforin are stored inside the leukocytes in secretory granules.
Question: What is an exosome?
Answer: Exosomes are a type of cell-derived extracellular nanovesicle.
Exosomes are membrane-bound extracellular vesicles (EVs) that are produced in the endosomal compartment of most eukaryotic cells.
Question: Which disease is associated with X-linked recessive TLR7 deficiency?
Answer: X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years.
Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years.
COVID-19
COVID-19 pneumonia
Question: Which one was the first chromone in clinical use?
Answer: The first chromone in clinical use, khellin.
Question: Which resource is used for visualisation of non-covalent contacts?
Answer: The Protein Contacts Atlas is an interactive resource of non-covalent contacts from over 100,000 PDB crystal structures. The Protein Contacts Atlas 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. The Protein Contacts Atlas is available at http://www.mrc-lmb.cam.ac.uk/pca/ and also through PDBe.
The Protein Contacts Atlas is an interactive resource of non-covalent contacts at different scales of organization: atoms, residues, secondary structures, secondary structure, subunits, and entire complexes.
Question: Which disease is treated with Emapalumab?
Answer: Emapalumab is a human monoclonal antibody directed against interferon-γ (IFN-γ) that was approved by the Food and Drug Administration for primary hemophagocytic lymphohistiocytosis (HLH).
Question: What is the function of the protein encoded by PUMILIO1?
Answer: Pumilio is a member of the highly conserved PUF family of RNA-binding proteins that function as a developmental regulator in diverse animal species. Pumilio1 (Pum1) has been shown to play key roles in translational regulation of target mRNAs in many systems of diverse organisms.
Pumilio1 (Pum1) has been shown to play key roles in translational regulation of target mRNAs in many systems of diverse organisms.
Question: What is the prevalence of the inactivating AKT variant p.Pro50Thr in the Finnish population?
Answer: A study identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function.
1.1% frequency
The P.Pro50Thr allele is present at 1.1% frequency in Finns but virtually absent in other ancestries.
Question: What class of drugs is commonly associated with Drug-induced interstitial lung disease (DIILD)?
Answer: Cytotoxic drugs are the most common cause of toxic lung disease.
Numerous agents including cytotoxic and noncytotoxic drugs have the potential to cause pulmonary toxicity
 Numerous agents including cytotoxic and noncytotoxic drugs have the potential to cause pulmonary toxicity.
Question: What pathological phenotype could potentially concomitant pomegranate juice and rosuvastatin use cause?
Answer: Concomitant use of rosuvastatin and pomegranate juice has been hypothesized to be associated with the development of rhabdomyolysis in a case report.
Question: Which tool has been developed to discover VNTR-associated deletions?
Answer: Τrfermikit is a software tool designed to detect deletions larger than 50 bp occurring in Variable Number Tandem Repeats (VNTRs) using Illumina DNA sequencing reads. In such regions, it achieves a better trade-off between sensitivity and false discovery than a state-of-the-art structural variation (SV) caller, Manta, and complements it by recovering a significant number of deletions that Manta missed. trfermikit is based upon the fermikit pipeline, which performs read assembly, maps the assembly to the reference genome, and calls variants from the alignment.
Question: How does condensin affect the function of topoisomeraseII?
Answer: Condensin prevents deleterious anaphase bridges during chromosome segregation by promoting sister chromatid decatenation which are created by topoisomerase II. Condensin-dependent localisation of topoisomerase II to an axial chromosomal structure is required for sister chromatid resolution during mitosis.
aids sister chromatid decatenation by topoisomerase II
Condensin prevents deleterious anaphase bridges during chromosome segregation by promoting sister chromatid decatenation.
aids sister chromatid decatenation
Condensin interferes with the function of Topo II. It prevents catenanes from persisting between sister chromatids during mitosis.
Condensin aids sister chromatid decatenation by topoisomerase II and minimizes topoisomerase II-mediated entanglements of DNA in vivo
Question: What is the difference in the roles of Tcf1 and Tcf3 during development?
Answer: Τhere are opposing effects of Tcf3 and Tcf1 in the control of Wnt stimulation of embryonic stem cell self-renewal. In contrast to β-catenin-dependent functions described for Tcf1 the known embryonic functions for Tcf3 are consistent with β-catenin-independent repressor activity. Wnt signal stimulation reduces the level of Tcf3, and increases those of Tcf1 (also known as Tcf7) and Lef1, positive mediators of Wnt signaling.
Tcf3 antagonizes Wnt signaling, while Tcf1 enhances
Question: Why mix γ-cyclodextrin with grapefruit juice?
Answer: Grapefruit (Citrus paradisi) juice enhances the oral bioavailability of drugs that are metabolized by intestinal cytochrome P450 3A4 (CYP3A4). Patients are advised to avoid drinking grapefruit juice to prevent this drug-grapefruit juice interaction. The inhibition of CYP3A by grapefruit juice was significantly attenuated by processing particularly with γCD. The inhibition of CYP3A by grapefruit juice was significantly attenuated by processing particularly with γCD. Similar attenuation effects by γCD were observed in the cases of BG and DHBG. Furthermore, BG and DHBG were suggested to be strongly encapsulated in the cavity of γCD.The encapsulation of BG and DHBG by γCD and the resulting attenuation of the inhibition of CYP3A activity by grapefruit juice may be applicable to juice processing for preventing drug-grapefruit juice interactions.
Question: What is Morel–Lavallée lesion?
Answer: Morel-Lavallée lesion is a closed degloving soft-tissue injury that results in the accumulation of a hemolymphatic fluid between the skin/superficial fascia and the deep fascia.
Question: What is known about the protein patatin?
Answer: Patatin, the major protein found in potatoes, was purified and shows several isoforms. The essential amino acid content of patatin was ashighas 76%, indicating that it is a valuable protein source. Patatin was an O-linked glycoprotein that contained fucose monosaccharides, as well as mannose, rhamnose, glucose, galactose, xylose, and arabinose. Patatin had a fucosylated glycan structural feature, which strongly bound AAL (Aleuria aurantia Leukoagglutinin), a known fucose binding lectin. Moreover, thelipid metabolism regulatory effects of patatin on the fat catabolism, fat absorption, and inhibition of lipase activity were measured after high-fat feeding of zebrafish larvae. Results revealed that 37.0 μg/mL patatin promoted 23% lipid decomposition metabolism. Meanwhile patatin could inhibite lipase activity and fat absorption, whose effects accounted for half that of a positive control drug. Our findings suggest that patatin, a fucosylated glycoprotein, could potentially be used as a naturalactiveconstituent with anti-obesity effects.
Question: What are chromones?
Answer: The chromones are a class of chemical compounds characterised by the presence of the structure 5:6 benz-1:4-pyrone in their chemical make-up.
Question: What is the mechanism of action of Lanifibranor?
Answer: Lanifibranor is peroxisome proliferator-activated receptor (PPAR) agonist.
Question: Summarize the function of DEAH helicase DHX36 and its role in G-quadruplex-dependent processes.
Answer: DEAH-Box helicase 36 (DHX36), a member of the large DExD/H box helicase family, enzymatically unwinds both G4 DNA and G4 RNA. RNA helicases of the DEAH/RHA family form a large and conserved class of enzymes that remodel RNA protein complexes (RNPs) by translocating along the RNA
Question: What is the function of the YY1 transcriptional regulator?
Answer: The ubiquitous transcription factor Yin Yang 1 (YY1) is known to have a fundamental role in normal biologic processes such as embryogenesis, differentiation, replication, and cellular proliferation. YY1 is a transcription factor that can activate or repress transcription of a variety of genes and is involved in several developmental processes. YY1 overexpression and/or activation is associated with unchecked cellular proliferation, resistance to apoptotic stimuli, tumorigenesis and metastatic potential. YY1, in addition to its regulatory roles in normal biologic processes, may possess the potential to act as an initiator of tumorigenesis and may thus serve as both a diagnostic and prognostic tumor marker; furthermore, it may provide an effective target for antitumor chemotherapy and/or immunotherapy.
YY1 is a transcription factor that can activate or repress transcription of a variety of genes and is involved in several developmental processes. Although YY1 is a ubiquitous transcription factor, YY1 interacts with M-MITF, the Waardenburg Syndrome IIA gene and a master transcriptional regulator of melanocytes. We present evidence that YY1, a ubiquitously expressed DNA-binding protein, regulates the activity of the c-fos promoter primarily through an effect on DNA structure.  the principal function of YY1 in this promoter is to bend DNA to regulate contact between other proteins.  By using oligonucleotide competition and a specific antibody we demonstrated that the transcription factor YY1 is responsible for the formation of complex BIII. Also in this case, the transient expression of the YY1 cDNA in CHO cells resulted in an increased transcription from the FE65 minimal promoter. The absence of any co-operative effect when CHO cells were co-transfected with both YY1 and Pur alpha cDNA species suggests that two different transcription regulatory mechanisms could have a role in the regulation of the FE65 gene.
YY1 is a transcriptional regulator. It is a protein that binds to the C-fos promoter. The function of this protein is to bend DNA to allow it to contact with other proteins.
The ubiquitous transcription factor Yin Yang 1 (YY1) is known to have a fundamental role in normal biologic processes such as embryogenesis, differentiation, replication, and cellular proliferation. YY1 exerts its effects on genes involved in these processes via its ability to initiate, activate, or repress transcription depending upon the context in which it binds. Mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes.
Question: Is ALS a heritable disease?
Answer: Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder of the motor system. The etiology is still unknown and the pathogenesis remains unclear. ALS is familial in the 10% of cases with a Mendelian pattern of inheritance.
Question: What is ARNIL?
Answer: Long noncoding RNA (lncRNA) antisense noncoding RNA in the INK4 locus (ANRIL) is involved in several human cancers.
Question: What is the indication of CPX-351?
Answer: CPX-351 has been approved by the US FDA and the EMA for the treatment of adults with newly diagnosed therapy-related acute myeloid leukemia or acute myeloid leukemia with myelodysplasia-related changes.
Question: What is bb21217?
Answer: BB21217 is a chimeric antigen receptor (CAR)-modified T-cell therapy used to target B-cell maturation antigen (BCMA) in the treatment of multiple myeloma.
Question: Describe the syndrome that is caused by biallelic variants in HPDL
Answer: Biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.
Question: What is the role of KAT7 in AML?
Answer: KAT7 is a genetic vulnerability of acute myeloid leukemias driven by MLL rearrangements and more specifically driven by the MLL-X gene fusions.
KAT7 is a genetic vulnerability of acute myeloid leukemias driven by MLL rearrangements.
Question: What is the p-crAssphage?
Answer: CrAssphage is the most abundant human-associated virus and the founding member of a large group of bacteriophages, discovered in animal-associated and environmental metagenomes, that infect bacteria of the phylum Bacteroidetes.
Question: What is the function of Circular RNA (circRNA)?
Answer: Circular RNAs (circRNAs) are a class of conserved, endogenous non-coding RNAs that are involved in transcriptional and post-transcriptional gene regulation as well as the pathogenesis of diseases. including cancer
Circular RNAs (circRNAs) are a class of conserved, endogenous non-coding RNAs that are involved in transcriptional and post-transcriptional gene regulation.
Question: What is CPX-351
Answer: CPX-351 (United States: Vyxeos®; Europe: Vyxeos® Liposomal), a dual-drug liposomal encapsulation of daunorubicin and cytarabine in a synergistic 1:5 molar ratio, is approved by the US FDA and the EMA for the treatment of adults with newly diagnosed therapy-related acute myeloid leukemia or acute myeloid leukemia with myelodysplasia-related changes.
Question: What is known about the PYHIN proteins?
Answer: The human PYHIN proteins, AIM2, IFI16, IFIX, and MNDA, are critical regulators of immune response, transcription, apoptosis, and cell cycle.
Absent in melanoma 2 (AIM2) is a member of the PYHIN (pyrin and HIN domain-containing protein) family with important roles in sensing double-stranded DNA (dsDNA) and assembling the AIM2 inflammasome, which has wide-ranging, pro-inflammatory and pro-pyroptotic properties.
Question: List monoclonal antibodies included in the REGEN-COV.
Answer: REGEN-COV is a combination of the monoclonal antibodies casirivimab and imdevimab. It has been shown to markedly reduce the risk of hospitalization or death among high-risk persons with coronavirus disease 2019.
Question: Which databases are devoted to 3D genome interactions?
Answer: 3DIV is a 3D-genome Interaction Viewer and database. The 3D Genome Browser is a web-based browser for visualizing 3D genome organization and long-range chromatin interactions. GMOL is an Interactive Tool for 3D Genome Structure Visualization. 3Disease Browser is a Web server for integrating 3D genome and disease-associated chromosome rearrangement data. The 3DGD is a database of genome 3D structure, that currently holds Hi-C data on four species, for easy accessing and visualization of chromatin 3D structure data.
Question: Where does REGN5458 bind to?
Answer: The bispecific antibody REGN5458 binds to B-cell maturation antigen (BCMA) and CD3.
Question: What are the currently FDA approved monoclonal antibodies for myeloma?
Answer: The US Food and Drug Administration approved MoAbs, include belantamab mafodotin, daratumumab, elotuzumab, and isatuximab.
Question: List the drug targets of Faricimab?
Answer: Faricimab, a bispecific antibody that inhibits VEGF-A and Ang-2.
Faricimab is a bispecific antibody that has been developed as an inhibitor of both VEGF and Ang2
Question: Which CYP genes' expression is decreased at the in vivo level following pomegranate juice consumption?
Answer: It was found that pomegranate juice consumption decreased total hepatic CYP content as well as the expression of CYP1A2 and CYP3A.
Question: Class-defining mutations in which genes drive FLT3-ITD-mutant AML?
Answer: Advances in cancer genomics have revealed genomic classes of acute myeloid leukemia (AML) characterized by class-defining mutations, such as chimeric fusion genes or in genes such as NPM1, MLL, and CEBPA. These class-defining mutations frequently synergize with internal tandem duplications in FLT3 (FLT3-ITDs) to drive leukemogenesis.
NPM1, MLL, and CEBPA
Advances in cancer genomics have revealed genomic classes of acute myeloid leukemia (AML) characterized by class-defining mutations, such as chimeric fusion genes or in genes such as NPM1, MLL, and CEBPA.
NPM1, RUNX1, CEBPA, MLL
Question: Belzutifan has shown effectiveness for which diseases?
Answer: Belzutifan is the small-molecule HIF 2 alpha inhibitor that has demonstrated significant efficacy in the von Hippel-Lindau disease related renal cell carcinomas, hemangioblastomas, and pancreatic neuroendocrine tumors while demonstrating an acceptable safety profile
Question: What is caused by biallelic variants in SPATA5L1?
Answer: Bi-allelic variants in SPATA5L1 lead to microcephaly, intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Biallelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Question: A combination of which two drugs was tested in the IMbrave150 trial?
Answer: IMbrave150 trial tested a combination of atezolizumab and bevacizumab for advanced hepatocellular carcinoma.
Question: List signs of patients with biallelic variants in KARS1
Answer: KARS1-associated signs are autism, hyperactive behavior, pontine hypoplasia, and cerebellar atrophy with prevalent vermian involvement.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated in the knockout zebrafish.