anand-s/m_qalm huggingface dataset:
Question: List diseases that are  repeat expansion disorders (REDs).
Answer: The expansion of Short tandem repeats underlies the pathogenesis of multiple neurological disorders, including Huntington's disease, amyotrophic lateral sclerosis, and frontotemporal dementia, fragile X-associated tremor/ataxia syndrome, and myotonic dystrophies, known as repeat expansion disorders (REDs).
he Fragile-X related disorders (FXDs) are Repeat Expansion Diseases (REDs) that result from expansion of a CGG-repeat tract located at the 5' end of the FMR1 gene.
Question: Which drugs are included in the CAPIRI regimen?
Answer: CAPIRI regimen includes capecitabine plus irinotecan.
Question: Which mutations are inhibited by Ripretinib?
Answer: Ripretinib is a novel switch-control kinase inhibitor designed to inhibit a wide range of KIT and PDGFRA mutations.
Question: Which CD38 antibody has been shown to be effective for Lupus Erythematosus?
Answer: Daratumumab, a human monoclonal antibody that targets CD38, has been used to treat Lupus Erythematosus.
Question: What is a circRNA?
Answer: Circular RNAs (circRNAs) are a new class of non-coding RNA with a stable structure formed by special loop splicing.
Question: Which one of the CYP450 enzymes is the second most frequently implicated in the metabolism of the drugs currently available on the market?
Answer: CYP3A4 and CYP2D6 are the most relevant since they metabolize about 50% and 30% of the drugs on the market, respectively.
Question: What is the msDNA?
Answer: msDNA is actually a complex of DNA, RNA, and probably protein. It is composed of a small, single-stranded DNA, linked to a small, single-stranded RNA molecule. The 5' end of the DNA molecule is joined to an internal guanosine residue of the RNA molecule by a unique 2'-5' phosphodiester bond. msDNA is produced in many hundreds of copies per cell, but its function remains unknown.
Question: What percentage of currently available drugs are metabolized by CYP3A4?
Answer: CYP3A4 metabolizes approximately 50% of the drugs available today on the market.
Question: What is caused by bi-allelic loss-of-function variants in IPO8?
Answer: Bi-allelic loss-of-function variants in IPO8 cause a syndromic form of thoracic aortic aneurysm (TAA) with clinical overlap with Loeys-Dietz and Shprintzen-Goldberg syndromes.
Syndromic thoracic aortic aneurysm
Importin, a member of the importin-β protein family, is a protein that translocates cargo molecules, proteins, and ribonucleoprotein complexes into the nucleus in RanGTP-dependent manner. Bi-allelic loss-of-function variants in IPO8 cause a syndromic form of thoracic aortic aneurysm.
Question: Which glands in the bee secretes royal jelly?
Answer: hypopharyngeal glands
Question: When did FDA approve the first B-cell maturation antigen-targeted CAR-T cell therapy?
Answer: FDA approved the first B-cell maturation antigen-targeted CAR-T cell therapy on March 26, 2021.
Question: When is the drug Ivermectin used?
Answer: Ivermectin (IVM) has been well known for its role in the treatment of parasitic diseases, due to its effect on glutamate-gated chloride channels. These same channels are also present in the mosquito vector, and thus, research has focused on the insecticidal effects of this drug.
Question: What is the effect of rHDL-apoE3 on vascular permeability?
Answer: rHDL-apoE3 markedly improves vascular permeability as demonstrated by the reduced concentration of Evans Blue dye in tissues such as the stomach, the tongue and the urinary bladder and ameliorated hypercholesterolemia.
Question: What is inhibited by TH1579?
Answer: TH1579 is a best-in-class MTH1 inhibitor.
TH1579 inhibits the MTH1 protein, which is the protein that cancer cells rely on to make their DNA.
MTH1
Question: What is the Versene Solution used for?
Answer: the Versene Solution is used for the detachment of stem cell sheets.
Question: What is the indication for Favipiravir?
Answer: Favipiravir (FVP) has been used for treatment of COVID-19 in many countries.
Question: Which syndrome is caused by pathogenic COL4A3-COL4A5 variants?
Answer: Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport syndrome (COL4A3-COL4A5) in as many as 30% of individuals with focal and segmental glomerulosclerosis (FSGS), 10% of those with kidney failure of unknown cause, and 20% with familial immunoglobulin A (IgA) glomerulonephritis.
Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport syndrome (COL4A3-COL4A5) in as many as 30% of individuals with focal and segmental glomerulosclerosis (FSGS), 10% of those with kidney failure of unknown cause, and 20% with familial immunoglobulin A (IgA) glomerulonephritis. The population frequencies for Alport syndrome are suggested by the frequencies of predicted pathogenic COL4A3-COL4A5 variants, but must be adjusted for the disease penetrance of individual variants and for the likelihood of already diagnosed disease and non-Gly substitutions.
Pathogenic variants in the genes in Alport Syndrome (COL4A3-C4A5) are found in as many as 30% of individuals with focal and segmental glomerulosclerosis (FSGS), and 20% with familial immunoglobulin A (IGA) Glomerulonephritis. The population frequencies for Alport syndrome are suggested to be higher than the frequencies of predicted pathogenic variants, but must be adjusted for the disease penetrance individual variants and for the likelihood of already diagnosed disease and non-Gly substitutions.
Question: Which disease do pathogenic NR2F1 variants cause?
Answer: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1.
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Question: Which mutation is targeted by Tepotinib?
Answer: MET Exon 14 Skipping Mutation is targeted by Tepotinib that is used for patients with non-small-cell lung cancer.
Question: Nemolizumab has been shown to be effective for which disease?
Answer: Nemolizumab has been shown to be effective for atopic dermatitis.
Question: What is the mammalian version of arginine vasotocin?
Answer: Arginine vasopressin (AVP) is the mammalian homolog of arginine vasotocin (AVT).
Arginine vasotocin (AVT) is the non-mammalian homolog of arginine vasopressin (AVP)
Question: Which kinase does PD98059 inhibit?
Answer: PD98059 is a specific, reversible MEK inhibitor.
Question: What is caused by loss-of-function variants in BCAS3?
Answer: BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis.
BCAS3 microtubule-associated migration factor (BCAS3) is a large, highly tuned cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in the growth of tumors. It has been linked to a syndromic neurodevelopmental disorder.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Question: What is the main use of ETD fragmentation?
Answer: Electron-based fragmentation methods have revolutionized biomolecular mass spectrometry, in particular native and top-down protein analysis.
Question: What is Congo red agar plates used for?
Answer: Congo red agar plates are used as a canonical indicator of biofilm-formation ability. Culture on Congo red agar plates in which slime-producing strains form black colonies, while nonslime-forming ones develop red colonies.
Question: What is the protein that is truncated to produce progerin?
Answer: Hutchinson Gilford progeria syndrome (HGPS) is a devastating accelerated aging disease caused by LMNA gene mutation. The truncated lamin A protein produced "progerin"
The truncated lamin A protein produced "progerin
Question: What treatment was studied in the KEYNOTE-522 trial?
Answer: KEYNOTE-522 trial studied adjuvant pembrolizumab for patients with triple-negative breast cancer.
Question: Which disease is associated with DNAJB1-PRKACA fusion gene?
Answer: Fibrolamellar carcinoma is distinctive at clinical and histologic levels. A novel DNAJB1-PRKACA fusion gene characterizes almost all cases.
Question: When was dupilumab approved by EMA?
Answer: Dupilumab was approved fby the EMA in 2017.
Question: Aducanumab can be used for treatment of which disease?
Answer: Aducanumab is approved for treatment of Alzheimer's disease.
Question: Covid-19 is though to have arisen from what species?
Answer: COVID-19 caused by SARS-CoV-2 most likely originated in bats and transmitted to humans through a possible intermediate host.
Question: Where are Goblet cells localized?
Answer: Goblet cells are found in the intestine, in the lungs, in the eyes etc. Goblet cells are localized in the epithelium.
Question: What is the brand name for erenumab?
Answer: Aimovig (erenumab; erenumab-aooe in the United States) is the only US Food and Drug Administration (FDA)-approved monoclonal antibody (mAb) therapy against the CGRP receptor (CGRPR) for the prevention of migraine.
Erenumab-aooe (erenumab, Aimovig®)-a fully human monoclonal antibody that inhibits the calcitonin gene-related peptide (CGRP) receptor-is approved for the prevention of migraine in adults in a number of countries
Question: Which protein does capmatinib bind?
Answer: Capmatinib binds MET.
Question: What is carboxyglutamate?
Answer: One of the important glutamic acid modifications is post-translationally modified 4-carboxyglutamate.
Question: Which company produces the HercepTest?
Answer: DAKO is the company producing the companion diagnostic HercepTest.
Question: In what year did Gregor Mendel die?
Answer: Johann Gregor Mendel 1822-1884
The life and personality of Johann Gregor Mendel (1822-1884)
Gregor Mendel, OSA (1822-1884), founder of scientific genetics.
Question: Describe the application of whole genome sequencing in the diagnosis of primary ciliary dyskinesia (PCD)
Answer: Genetic testing is an important component of diagnosing PCD, especially in cases of atypical disease history. WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants. In these cases it may detect SVs and is a powerful tool for novel gene discovery.
Genetic testing is an important component of diagnosing PCD, especially in cases of atypical disease history. In these cases it may detect SVs and is a powerful tool for novel gene discovery. WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants.
WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants.
Question: Summarize Fanconi's anemia
Answer: Fanconi anemia (FA) is a rare autosomal or X-linked genetic disorder characterized by chromosomal breakages, congenital abnormalities, bone marrow failure (BMF), and cancer.
Question: Describe SBGNview
Answer: Pathway analysis is widely used in genomics and omics research, but the data visualization has been highly limited in function, pathway coverage and data format. SBGNview is a comprehensive R package to address these needs.
SBGNview is a tool set for pathway based data visalization
Question: What is the mechanism of action of Evinacumab?
Answer: Evinacumab is a monoclonal antibody against angiopoietin-like protein 3 (ANGPTL3) that has been shown to reduce low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia.
Question: How do CYP1A2 polymorphisms affect the habitual coffee consumption effect on apetite?
Answer: The CYP1A2 polymorphism -163C > A (rs762551) polymorphism renders carriers:  rapid (AA), intermediate (AC), or slow (CC) caffeine metabolizers.
High coffee consumption was more prevalent in rapid compared to slow metabolizers (P = 0.008 after adjustment for age, sex, and BMI) and was associated with lower appetite perception and lower BMI only in rapid metabolizers (P for interaction of rs762551 genotype*coffee consumption = 0.002 and 0.048, respectively).
Question: What is the role of SDE2?
Answer: SDE2 is a previously uncharacterized essential gene required for ribosome biogenesis and the regulation of alternative splicing.
Silencing Defective 2 (SDE2) is an essential gene required for ribosome biogenesis and the regulation of alternative splicing. SDE2 depletion leads to widespread changes in alternative splicing, defects in ribosome biogenesis and ultimately complete loss of cell viability.
The role of SDE2 is to regulate RNA splicing and ribosome biogenesis.
SDE2 is required for ribosome biogenesis and the regulation of alternative splicing
SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing.
Question: What is Shone's complex?
Answer: Shone's syndrome is a rare congenital heart disease that includes 4 cardiovascular anomalies: supravalvular mitral ring, parachute mitral valve, subaortic stenosis, and coarctation of the aorta.
Question: Describe the N6-methyladenosine RNA modification in AML
Answer: The writer Methyltransferase Like 3 and its binding partner Methyltransferase Like 14, as well as the reader YTH domain-containing family protein 2, were shown to be vital for LSC survival, and their loss has detrimental effects on AML cells. Similar observations were made with the demethylases fat mass and obesity-associated protein and AlkB homologue 5 RNA demethylase. Of importance, loss of any of these genes has little to no effect on normal hemopoietic stem cells, suggesting therapeutic potential.
The writer Methyltransferase Like 3 and its binding partner Methyltransferase Like 14, as well as the reader YTH domain-containing family protein 2, were shown to be vital for LSC survival, and their loss has detrimental effects on AML cells. Similar observations were made with the demethylases fat mass and obesity-associated protein and AlkB homologue 5 RNA demethylase.
The N6-methyladenosine RNA modification in AML is a nucleotide that is not normally found in the DNA of cancer cells. This nucleotide has been shown to have an effect on the cell's ability to divide.
the N6-methyladenosine (m6A) modification of RNA has been shown to play an important role in the development of acute myeloid leukemia (AML) and the maintenance of leukemic stem cells (LSCs)
The writer Methyltransferase Like 3 and its binding partner Methyltransferase Like 14, as well as the reader YTH domain-containing family protein 2, were shown to be vital for LSC survival, and their loss has detrimental effects on AML cells.
Question: What is the function of a DEAD box protein?
Answer: DEAD-box (DDX) proteins belong to the largest subfamily of RNA helicase SF2, which contributes to all biological processes of RNA metabolism
DEAD-box helicases are ubiquitous in RNA-mediated processes and function by coupling cycles of ATP binding and hydrolysis to changes in affinity for single-stranded RNA.
DEAD-box helicase proteins perform ATP-dependent rearrangements of structured RNAs
DEAD-box proteins catalyze the ATP-dependent unwinding of RNA duplexes and accompany RNA molecules throughout their cellular life.
Question: What is the mechanism of action of Gemogenovatucel-T?
Answer: Gemogenovatucel-T is an autologous tumour cell vaccine manufactured from harvested tumour tissue, which specifically reduces expression of furin and downstream TGF-β1 and TGF-β2.
Question: Describe the role of bevacizumab in radiosurgery for arteriovenous malformation.
Answer: Bevacizumab is used for the treatment of severe, refractory perilesional edema due to an arteriovenous malformation treated with stereotactic radiosurgery.
Question: What is the cause of Bow Hunter's syndrome?
Answer: Bow hunter's syndrome (BHS) is caused by posterior circulation insufficiency that results from the occlusion or compression of the vertebral artery (VA) during neck rotation.
Bow Hunter's Syndrome (BHS) is caused by the occlusion of the vertebral artery with head rotation leading to ischemia and sometimes stroke.
Question: What is the Bartter syndrome?
Answer: Bartter syndrome is a rare hereditary salt-losing tubulopathy caused by mutations of several genes in the thick ascending limb of Henle's loop, characterized by polyuria, hypokalemic metabolic alkalosis, growth retardation and normal blood pressure.
Bartter syndrome is a rare disorder characterized by reduced sodium chloride transport in the distal nephrons of the kidney. Its clinical features are renal salt wasting, hypokalemic metabolic alkalosis, elevated renin and aldosterone levels with normal or low blood pressure, polyuria, hypercalciuria and malnutrition.
Bartter syndrome is a syndrome associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis
Bartter syndrome is a rare disorder characterized by reduced sodium chloride transport in the distal nephrons of the kidney.
Question: What is the use of Lactin-V?
Answer: Lactin-V after treatment with vaginal metronidazole resulted in a significantly lower incidence of recurrence of bacterial vaginosis and can be used for bacterial vaginosis. Lactin-V after treatment for cystitis was associated with a reduction in recurrent UTI.
Question: What are the effects of ibrutinib on CART cell production?
Answer: CART cell generation in the presence of ibrutinib resulted in increased cell viability and expansion of CLL patient-derived CART cells. Furthermore, ibrutinib enriched CART cells with less-differentiated naïve-like phenotype and decreased expression of exhaustion markers including PD-1, TIM-3 and LAG-3. In addition, ibrutinib increased the cytokine release capacity of CLL patient-derived CART cells. In summary, BTK/ITK inhibition with ibrutinib during CART cell culture can improve yield and function of CLL patient-derived CART cell products.
Question: What is the role of miR-193b in prostate cancer?
Answer: Overexpression of miR-193b in prostate cancer cell lines inhibited invasion and induced apoptosis. A majority of the top 150 genes downregulated when miR-193b was overexpressed in liposarcoma are overexpressed in metastatic prostate cancer and 41 miR-193b target genes overlapped with the 86 genes in the aggressive prostate cancer subtype 1 (PCS1) signature. Overexpression of miR-193b led to the inhibition of the majority of the 41 genes in prostate cancer cell lines. High expression of the 41 genes was correlated with recurrence of prostate cancer. Knockdown of miR-193b targets FOXM1 and RRM2 in prostate cancer cells phenocopied overexpression of miR-193b. Dual treatment with DNA methyltransferase (DNMT) and histone deacetylase (HDAC) inhibitors decreased miR-193b promoter methylation and restored inhibition of FOXM1 and RRM2.
Overexpression of miR-193b in prostate cancer cell lines inhibited invasion and induced apoptosis.
Overexpression of miR-193b led to the inhibition of the majority of the 41 genes in prostate cancer cell lines.
Question: What is NTI, Nerve Tissue Contrast Index
Answer: The Nerve Tissue Index NTI is a ratio of average brightness levels of surrounding tissue and the median nerve, both calculated on the basis of a ultrasound image.
The NTI is a ratio between the brightness levels of surrounding tissue and the median nerve, both calculated on the basis of a US image.
The NTI is a ratio of average brightness levels of surrounding tissue and the median nerve used in the diagnostic of Carpal Tunnel Syndrome.
The NTI is a ratio of average brightness levels of surrounding tissue and the median nerve, both calculated on the basis of a US image.
Question: Describe bigPint
Answer: BigPint is  a data visualization package available on Bioconductor under the GPL-3 license (https://bioconductor.org/packages/release/bioc/html/bigPint.html). This software introduces new visualization technology that enables independent layers of interactivity using Plotly in R, which aids in the exploration of large biological datasets. The bigPint package presents modernized versions of scatterplot matrices, volcano plots, and litre plots through the implementation of layered interactivity. These graphics have detected normalization issues, differential expression designation problems, and common analysis errors in public RNA-sequencing datasets. Researchers can apply bigPint graphics to their data by following recommended pipelines written in reproducible code in the user manual.
Question: Describe meCLICK-Seq
Answer: meCLICK-Seq (methylation CLICK-degradation Sequencing) is a method to identify RNA modification substrates with high resolution at intronic and intergenic regions. The method hijacks RNA methyltransferase activity to introduce an alkyne, instead of a methyl, moiety on RNA.
The meCLICK-Seq (methylation CLICK-degradation Sequencing) is a method to identify RNA modification substrates with high resolution at intronic and intergenic regions. It hijacks RNA methyltransferase activity to introduce an alkyne, instead of a methyl, moiety on RNA.
MeCLICK-Seq is a method to identify RNA modification substrates with high resolution at intronic and intergenic regions. The method hijacks RNA methyltransferase activity to introduce an alkyne, instead of a methyl, moiety on RNA.
Question: What is the mechanism of action of Lumasiran?
Answer: Lumasiran is a subcutaneously administered small interfering RNA targeting the mRNA for hydroxyacid oxidase 1 gene that is used for the treatment of primary hyperoxaluria type 1 (PH1). By silencing the gene encoding glycolate oxidase, lumasiran depletes glycolate oxidase and thereby inhibits the synthesis of oxalate, which is the toxic metabolite that is directly associated with the clinical manifestations of PH1.
Question: What is OHRQoL?
Answer: Diseases and disorders that damage the mouth and face can disturb well-being and his self-esteem. Oral health-related quality of life (OHRQOL) is a relatively new but rapidly growing concept and can be assessed using a number of different methods including standardized questionnaires.  The OHRQoL is a concept that includes functional, social, emotional, and environmental issues. How patients perceive their oral health-related quality of life (OHRQoL) is important for health-care provider for understanding and planning in patient management.
The assessment of the oral health-related quality of life (OHRQoL) is possible with the Oral Health Impact Profile-14 (OHIP-14) questionnaire comprising 7 subdomains: functional limitation, physical pain, psychological discomfort, physical disability, psychological disability, social disability, and handicap
Question: What is carcinoma en cuirasse?
Answer: Breast carcinoma en cuirasse is an extremely rare form of cutaneous metastases of breast cancer, characterized by diffuse sclerodermoid induration of the skin.
Question: What is Morton's Neuroma?
Answer: Morton's neuromas are abnormalities of the common digital nerve branch located between the lesser metatarsal heads and is a common cause of foot pain.
Morton's neuroma (MN) is a neuralgia involving the common plantar digital nerves of the metatarsal region.
Question: Which diseases can be treated with Itepekimab?
Answer: Itepekimab, a monoclonal antibody targeting IL-33, demonstrated clinical activity in asthma, with potential in chronic obstructive pulmonary disease (COPD).
Question: List the common retinal diseases associated with circRNAs.
Answer: Circular RNAs (circRNAs) in whole blood could be served as novel non-invasive biomarkers for retinal degeneration, diabetic retinopathy, proliferative diabetic retinopathy (PDR) and Retinopathy of prematurity (ROP)
Question: Which drugs are included in the CABENUVA pill?
Answer: Cabenuva contains cabotegravir and rilpivirine. It is used for treatment of HIV.