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What are the targets of pemigatinib? | Pemigatinib is a small molecule inhibitor of fibroblast growth factor receptor (FGFR) 1, FGFR2 and FGFR3, received accelerated approval for the treatment of adults with previously treated, unresectable, locally advanced or metastatic cholangiocarcinoma and a FGFR2 fusion or other rearrangement, as detected by a US FDA-approved test. | 3,883 | [
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] |
Is clathrin involved in E-cadherin endocytosis? | E-cadherin is a central component of the adherens junction in epithelial cells and continuously undergoes endocytosis via clathrin-coated vesicles and/or caveolae depending on the cell type. | 1,045 | [
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] |
Which gene fusion is the result of the "philadelphia translocation" or the "philadelphia chromosome" mutation? | Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22 called the Philadelphia (Ph) chromosome. The Philadelphia chromosome and its corresponding fusion gene, BCR-ABL, is one of the best-known genetic abnormalities in hematological malignancies. Major BCR-ABL translocation is much more common in chronic myelogenous leukemia (CML) and minor BCR-ABL in acute lymphoblastic leukemia. | 1,214 | [
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What is the p-crAssphage? | 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. | 4,614 | [
33137401,
33715349,
33594055
] |
A common problem in proteomics is the contamination of samples with exogenous proteins (often from other species). These proteins can be found in specific databases. List some contaminants. | Some common contaminants in proteomics are proteases (used for the digestion of the proteins), keratins (usually from the skin), proteins originated from the serum of the culture media and antibodies if used in the experiment. | 1,157 | [
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] |
Which treatments were compared in the UNBLOCS trial? | The UNBLOCS trial compared thulium laser transurethral vaporesection of the prostate versus transurethral resection of the prostate for men with lower urinary tract symptoms or urinary retention. | 4,095 | [
28412960,
32558178,
32901611,
32622397
] |
Is RANKL secreted from the cells? | Receptor activator of nuclear factor κB ligand (RANKL) is a cytokine predominantly secreted by osteoblasts. | 4 | [
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What is the basis of the DamID experimental protocol? | Dam Identification (DamID) system induced by Cre recombinase using Lamin B1 and mouse embryonic fibroblasts. This inducible system will help to generate genome-wide profiles of chromatin proteins in given cell types and tissues with no need to dissect tissues from organs or separate cells from tissues, which is achieved by using specific regulatory DNA elements and due to the high sensitivity of the method. DNA adenine methyltransferase identification (DamID) has emerged as one of the most comprehensive and versatile methods available for profiling protein-DNA interactions on a genomic scale. Recently, a novel methylation-based tagging technique, termed DamID (DNA adenine methyltransferase identification), has emerged as a powerful tool to decipher transcriptional networks, to study chromatin-associated proteins, and to monitor higher-order chromatin organization on a genome-wide scale. We show here that the in vivo methylation-based tagging technique DamID (DNA adenine methyltransferase identification) can be used for studies of DNA-protein interactions or chromatin profiling in plants DamID is a powerful method used to map the genomic interaction sites of these proteins in vivo It is based on fusing a protein of interest to Escherichia coli DNA adenine methyltransferase (dam). Expression of this fusion protein in vivo leads to preferential methylation of adenines in DNA surrounding the native binding sites of the dam fusion partner. Because adenine methylation does not occur endogenously in most eukaryotes, it provides a unique tag to mark protein interaction sites. DNA adenine methyltransferase identification (DamID) is an enzymatic technology for detecting DNA regions targeted by chromatin-associated proteins. Overall, DamID is highly robust: while the orientation of WT Dam fusions can affect the size of the target sets, their signatures remained largely reproducible. | 3,494 | [
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What has capmatinib received FDA approval for in 2020? | In May 2020, oral capmatinib received its first global approval in the USA for the treatment of adults with metastatic non-small cell lung cancer (NSCLC) whose tumours have a mutation that leads to MET exon 14 skipping, as detected by an FDA-approved test. | 4,051 | [
32557339
] |
Is micro RNA 1 (miR-1) implicated in cardiac arrhythmias? | Yes. miR-1 overexpression may contribute to the increased susceptibility of the heart to AVB, which provides us novel insights into the molecular mechanisms underlying ischemic cardiac arrhythmias. As miR-1 has been shown in animal models and clinical studies to contribute to arrhythmogenesis by regulating pacemaker channel genes, our finding of miR-1 up-regulation in patients with myocardial infarction indicates that it might be responsible for the higher risk for arrhythmias in these patients. | 1,297 | [
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Is lumican a secreted protein? | Yes, Lumican is a secreted proteoglycan that regulates collagen fibril assembly. | 2,709 | [
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] |
What is mechanism of action of galunisertib? | Galunisertib is a transforming growth factor-β receptor type I kinase inhibitor (TGF-βRI). It was tested for treatment of solid cancers, including glioblastoma and neuroblastoma, and liver fibrosis. | 2,292 | [
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Mutations in which gene determine response to both erlotinib and gefitinib? | Patients who carry somatic activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene, respond well to erlotinib and gefitinib. | 1,113 | [
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Is indicated the use of antioxidant supplements in patients at risk for coronary artery disease? | antioxidant supplementation
However there are no clear evidencies on the clinical and prognostic benefit of this supplementation.
Currently there areno recommendation for the antioxidant therapy in patients with coronary artery disease.
Currently the American Heart Association recommends consumption of a balanced diet with emphasis on antioxidant-rich fruits and vegetables but does not recommend antioxidant supplementation for the general population. | 815 | [
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] |
Which mutations of phopspholamban have been found in patients with cardiomyopathy? | PLN mutation R14del [or c.40_42delAGA(p.Arg14del)] was identified in 12 (12 %) ARVC patients and in 39 (15 %) DCM patients. Another PLN mutation is a T116G point mutation, substituting a termination codon for Leu-39 (L39stop), and it was identified in two families with hereditary heart failure. Hereditary mutants of phospholamban, such as Arg(9) to Cys, Arg(9) to Leu, Arg(9) to His, cause lethal, hereditary dilated cardiomyopathy.in specific, two patients presented a G-T missense mutation at the G26 nucleotide, which encodes an Arg-Leu substitution at codon 9 (R9L).One patient presented a G-A missense mutation at the same nucleotide, which encodes an Arg-His substitution at codon 9 (R9H). A missense mutation in PLN cytoplasmic domain (R9C) triggers dilated cardiomyopathy in humans, leading to premature death. | 157 | [
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What is the function of the protein SERT? | SERT is a Serotonin transporter. | 4,241 | [
34136961,
34564289,
31822819,
34517785,
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34599615
] |
What are the effects of depleting protein km23-1 (DYNLRB1) in a cell? | The knockdown of km23-1 results in numerous effects at the cellular level, such as decreased cell migration. Additionaly, km23-1 is involved in signalling pathways and its knockdown results in decreased RhoA activation, inhibition of TGFβ-mediated activation of ERK and JNK, phosphorylation of c-Jun, transactivation of the c-Jun promoter and decreased TGFbeta responses. | 39 | [
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Which molecule is inhibited by ivosidenib? | Ivosidenib (AG-120) is an oral, targeted, small-molecule inhibitor of mutant IDH1. It used an effective treatment of leukemia. | 3,043 | [
30093505,
29670690,
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] |
What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins? | SECIS (selenocysteine insertion sequence) | 1,051 | [
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Describe Mozart effect. | The Mozart effect implies the enhancement of reasoning skills solving spatial problems in normal subjects after listening to Mozart's piano sonata K 448. | 1,252 | [
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Dinutuximab is used for treatment of which disease? | Dinutuximab, a monoclonal antibody against disialoganglioside, is used for treatment of high-risk neuroblastoma. | 2,649 | [
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] |
What is targeted by monoclonal antibody Pembrolizumab? | Pembrolizumab inhibits the programmed cell death 1 (PD-1) immune checkpoint and has antitumor activity in patients with advanced melanoma. Pembrolizumab is approved by the US Food and Drug Administration for the treatment of advanced melanoma, and additional regulatory approvals are expected across the oncologic spectrum for a variety of other agents that target these pathways. | 887 | [
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Which disease is treated with Anti–Siglec-8 Antibody? | Anti-Siglec-8 Antibody was shown to be effective for Eosinophilic Gastritis and Duodenitis. It is also undergoing clinical investigation for treatment of allergic, inflammatory, and proliferative diseases. | 3,942 | [
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31465299,
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31401630
] |
Is belimumab effective for the lupus nephritis? | Yes, belimumab appears to effective for the lupus nephritis. | 4,165 | [
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] |
List disorders that are caused by mutations in the mitochondrial MTND6 gene. | Mitochondrial MTND6 gene mutations are the cause of Leigh syndrome and Leber's hereditary optic neuropathy and/or dystonia. | 958 | [
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] |
Which disease is caused by repeat expansion in VWA1? | An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. | 4,712 | [
33559681
] |
Are most driver gene mutations synonymous or non-synonymous? | A common goal of tumor sequencing projects is finding genes whose mutations are selected for during tumor development. This is accomplished by choosing genes that have more non-synonymous mutations than expected from an estimated background mutation frequency. | 1,667 | [
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Which ligament is most commonly injured in dashboard injury? | Posterior cruciate ligament injuries have a reported incidence of between 3 and 37%, depending on the clinical setting. The most common mechanism of injury in motor vehicle accidents is a dashboard injury or direct force to the proximal anterior tibia. | 2,529 | [
10623985,
20306414,
3425783
] |
What is resistin? | The adipocyte-secreting adipokine, resistin, may play a critical role in the modulation of inflammatory diseases. | 3,221 | [
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Which two surgical methods were compared in the RAZOR trial? | The RAZOR trial compared open radical cystectomy vs. robot-assisted radical cystectomy in patients with bladder cancer. | 2,954 | [
30140466,
29976469,
25626182
] |
Which microRNAs are involved in exercise adaptation? | miR-1, miR-133, miR-208a, miR-206, miR-494, miR-146a, miR-222, miR-21, miR-221, miR-20a, miR-133a, miR-133b, miR-23, miR-107 and miR-181 are involved in exercise adaptation | 1,673 | [
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] |
Does prolactinoma increase osteoporosis risk? | Yes, prolactinomas increase risk of osteoporosis. Prolactinomas also cause hypogonadism, infertility, and tumor mass effects. | 2,496 | [
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] |
What are the eRNA-producing centers (EPCs)? | Active enhancers in mammals produce enhancer RNAs (eRNAs) that are bidirectionally transcribed, unspliced, and unstable. Enhancer regions are also enriched with long noncoding RNA (lncRNA) transcripts, which are typically spliced and substantially more stable. DNase hypersensitive sites with evidence of bidirectional transcription are called eRNA-producing centers (EPCs). EPCs found very close to transcription start sites of lncRNAs exhibit attributes of both enhancers and promoters, including distinctive DNA motifs and a characteristic chromatin landscape. These EPCs are associated with higher enhancer activity, driven at least in part by the presence of conserved, directional splicing signals that promote lncRNA production, pointing at a causal role of lncRNA processing in enhancer activity. | 3,729 | [
30447999
] |
List the four advances integrated into the SHERLOCKv2 platform. | SHERLOCKv2 presents with four distinct advances: (i) four-channel single-reaction multiplexing with orthogonal CRISPR enzymes; (ii) quantitative measurement of input as low as 2 attomolar; (iii) 3.5-fold increase in signal sensitivity by combining Cas13 with Csm6, an auxiliary CRISPR-associated enzyme; and (iv) lateral-flow readout. | 3,045 | [
29449508
] |
What is the role of per genes in circadian rhythm control? | PER1 and PER2 genes are involved in cell cycle regulation and tumor suppression, controlling expression of genes such as c-Myc, Cyclin D1, Cyclin A, Mdm-2 and Gadd45alpha. | 327 | [
15817328,
16596306
] |
List symptoms of Allgrove syndrome. | The classical clinical triad of the Allgrove syndrome includes alacrima, achalasia and adrenal insufficiency. It can be also associated with progressive peripheral neuropathy. | 3,549 | [
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What percentage of currently available drugs are metabolized by CYP3A4? | CYP3A4 metabolizes approximately 50% of the drugs available today on the market. | 4,332 | [
32786546
] |
what is the role of MEF-2 in cardiomyocyte differentiation? | The myocyte enhancer factor-2 (MEF2) proteins are MADS-box transcription factors that are essential for differentiation of all muscle lineages but their mechanisms of action remain largely undefined. MEF2C expression initiates cardiomyogenesis, resulting in the up-regulation of Brachyury T, bone morphogenetic protein-4, Nkx2-5, GATA-4, cardiac alpha-actin, and myosin heavy chain expression. Inactivation of the MEF2C gene causes cardiac developmental arrest and severe downregulation of a number of cardiac markers including atrial natriuretic factor (ANF). BMP-2, a regulator of cardiac development during embryogenesis, was shown to increase PI 3-kinase activity in cardiac precursor cells, resulting in increased expression of sarcomeric myosin heavy chain (MHC) and MEF-2A. Furthermore, expression of MEF-2A increased MHC expression in a PI 3-kinase-dependent manner. Other studies showed that Gli2 and MEF2C proteins form a complex, capable of synergizing on cardiomyogenesis-related promoters. Dominant interference of calcineurin/mAKAP binding blunts the increase in MEF2 transcriptional activity seen during myoblast differentiation, as well as the expression of endogenous MEF2-target genes. These findings show that MEF-2 can direct early stages of cell differentiation into a cardiomyogenic pathway. | 1,479 | [
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What is the relationship between the X chromosome and a neutrophil drumstick? | In particular, up to 17% of neutrophil nuclei of healthy women exhibit a drumstick-shaped appendage that contains the inactive X chromosome. | 4,197 | [
2176962,
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7828232,
28374668,
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] |
Which CYP genes' expression is decreased at the in vivo level following pomegranate juice consumption? | It was found that pomegranate juice consumption decreased total hepatic CYP content as well as the expression of CYP1A2 and CYP3A. | 4,581 | [
18158835
] |
Which de novo mutation in FGFR cause achondroplasia? | Recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R). | 3,600 | [
8078586
] |
Are mutations in the STXBP1 gene associated with epilepsy? | Yes,mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and in other early-onset epileptic encephalopathies. | 1,729 | [
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List packages for transcription factor binding sites' (TFBS) analysis available in R/Bioconductor | Neighbourhood Consistent PC (NCPC) algorithms, MMDiff and cosmo. | 650 | [
17550915,
12176838,
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] |
Is celecoxib effective for treatment of amyotrophic lateral sclerosis? | No. In clinical trial celecoxib did not have a beneficial effect on research subjects with ALS, and it was safe. A biological effect of celecoxib was not demonstrated in the cerebrospinal fluid. Further studies of celecoxib at a dosage of 800 mg/day in ALS were not recommended. | 2,792 | [
16802291
] |
What is the function of the gene MDA5? | Melanoma differentiation-associated gene 5 (MDA5) is a pattern recognition receptor that recognizes cytoplasmic viral double-stranded RNA (dsRNA) and initiates rapid innate antiviral responses. MDA5 forms a filament-like multimer along the dsRNA leading to oligomerization, which in turn activates the adaptor protein mitochondrial antiviral signaling protein (MAVS) to provide a signal platform for the induction of type I interferon (IFN) and proinflammatory cytokines. The conformational switch of MDA5 causes antiviral defense, but excessive activation of the MDA5-MAVS pathway may result in autoimmune diseases. | 2,335 | [
29069650,
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29117565
] |
Is Lysyl oxidase crosslinking collagen? | Yes, lysyl oxidase (LOX) and LOX-like (LOXL) proteins play crucial roles in ECM remodeling due to their collagen crosslinking and intracellular functions. | 2,665 | [
28073888,
28273952,
27694892,
28041746,
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] |
Is sacituzumab govitecan effective for breast cancer? | Yes. Sacituzumab Govitecan is a new and available treatment for metastatic triple-negative breast cancer. | 4,469 | [
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Which diseases can be treated with Afamelanotide? | Afamelanotide was ivestigated for treatment of erythropoietic protoporphyria, vitiligo, Hailey-Hailey disease, acne vulgaris, polymorphic light eruption, prevention of actinic keratoses in organ transplant recipients and nonmelanoma skin cancer. | 1,425 | [
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What class of drugs have been given a black box warning for suicide? | In 2004, the European and American authorities released a black-box warning on antidepressants indicating an association with an increased risk of suicidality (suicidal ideation and behavior) in young people | 3,859 | [
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How many genes does the human hoxD cluster contain? | The human HOXD complex contains nine genes: HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12 and HOXD13, which are clustered from 3′ to 5′ in an approximately 100-kb stretch on chromosome 2q31.1 with HOXD1 at the 3' end and HOXD13 the 5′ end. | 224 | [
22879880,
10364522
] |
Is it possible to detect survivin protein expression in normal human adult tissues? | No. Survivin is an inhibitor of apoptosis that is undetectable in normal differentiated tissues of adult human. | 432 | [
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Which receptors are bound by Tasimelteon? | Tasimelteon (HETLIOZ™) is an orally bioavailable agonist of the melatonin MT1 and MT2 receptors that has been approved in the US for the treatment of non-24-hour sleep-wake disorder. | 551 | [
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] |
Does thyroid hormone affect cardiac remodeling? | TH affects cardiac remodeling | 1,097 | [
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Describe the usefulness of Macrostomum lignano in ion channel and stem cell research | Bioelectrical signals generated by ion channels play crucial roles in many cellular processes in both excitable and nonexcitable cells. Some ion channels are directly implemented in chemical signaling pathways, the others are involved in regulation of cytoplasmic or vesicular ion concentrations, pH, cell volume, and membrane potentials. Together with ion transporters and gap junction complexes, ion channels form steady-state voltage gradients across the cell membranes in nonexcitable cells. These membrane potentials are involved in regulation of such processes as migration guidance, cell proliferation, and body axis patterning during development and regeneration. While the importance of membrane potential in stem cell maintenance, proliferation, and differentiation is evident, the mechanisms of this bioelectric control of stem cell activity are still not well understood, and the role of specific ion channels in these processes remains unclear. The flatworm Macrostomum lignano is a versatile model organism for addressing these topics. Experimental tools have been developed which demonstrate how manipulation of membrane potential influences regeneration in M. lignano. | 1,382 | [
23024658
] |
Which variables are included in the SPAN-100 score? | SPAN-100 score includes patient's age and NIH Stroke Scale score. SPAN-100 is used for prognostication of stroke patients. | 1,133 | [
25542499,
24557701,
23894342,
23175723,
20007090,
25194739,
24473180,
24798141
] |
Is bortezomib a Proteasome inhibitor? | The proteasome inhibitor bortezomib is effective for a variety of tumors, but not for GBM. Proteasome inhibitor bortezomib | 3,363 | [
22702336,
16278210,
26288836,
22216088,
28409734,
22027222,
28860152,
21247388,
28317148,
31088925
] |
Has ORMD-0801 been tested in patients? | Yes, ORMD-0801 has been tested in patients. | 3,710 | [
23593142
] |
Do SETD1A mutations predispose to schizophrenia? | Yes. There is a mutation in the gene that codes for a protein called SetD1A. This protein is involved in the development of schizophrenia. | 4,418 | [
31606247
] |
Mutation of which gene is associated with Achondroplasia? | Achondroplasia is due to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. | 290 | [
7702086,
12048679,
10932008,
15221641,
9115628,
21225389,
9949234,
20301331,
10881785
] |
Which molecular does daratumumab target? | Daratumumab is an anti-CD38 antibody. | 2,904 | [
29500635
] |
What is the indication for Favipiravir? | Favipiravir (FVP) has been used for treatment of COVID-19 in many countries. | 4,356 | [
34539392,
32097670,
34592006,
24084488,
33624584,
34464921,
22809499,
33746092,
32405421,
33555378,
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33647553,
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22022624,
34571361,
34044777,
29765101,
33042544,
28462833,
28769016,
22429564,
34535038,
34497279
] |
Which T-UCRs have been implicated in gastric cancer? | Uc.160 is significantly down-regulated in gastric carcinomas and can inhibit the tumor growth both in vitro and in vivo, suggesting that uc.160 may be used as a diagnostic marker and therapeutic target of gastric malignancies. Uc.416+A is overexpressed in GC and is associated with cell growth through the regulation of IGFBP6 (insulin-like growth factor-binding protein 6) in gastric cancer (GC). | 3,598 | [
28382457,
30323869,
26640143
] |
Is there evidence to suggest that triiodothyronine has neuroprotective properties in traumatic brain injury? | Yes, it has been demonstrated that triiodothyronine exerts neuroprotective properties in traumatic brain injury setting. | 818 | [
23313345,
23601250,
839237,
9681483,
6798220,
12445968,
7804793,
11719005
] |
What is canSAR? | canSAR (http://cansar.icr.ac.uk) is a public integrative cancer-focused knowledgebase for the support of cancer translational research and drug discovery. Through the integration of biological, pharmacological, chemical, structural biology and protein network data, it provides a single information portal to answer complex multidisciplinary questions including--among many others--and what is known about a protein, in which cancers is it expressed or mutated, and what chemical tools and cell line models can be used to experimentally probe its activity. | 3,823 | [
26673713,
22013161,
24304894,
30496479
] |
Variants in which genes cause nonsyndromic retinal degeneration? | Variants in DYNC2H1, IFT81, USH2A and ABHD12 can cause nonsyndromic retinal degeneration. | 3,745 | [
28460050,
25649381,
32753734,
24697911
] |
Are there any R packages that help with visualizing data on spirals? | Yes. Spiralize is an R package for visualizing data on spirals. | 4,694 | [
34849585
] |
Are DNA methylation maps applicable to the diagnosis of non-small-cell lung carcinomas? | Yes. | 1,345 | [
22726460,
23524404
] |
Does splicing occur co-transcriptionally? | The consensus view, based on four organisms, is that the majority of splicing events take place co-transcriptionally in most cells and tissues. RNA processing events that take place on the transcribed pre-mRNA include capping, splicing, editing, 3' processing, and polyadenylation. Most of these processes occur co-transcriptionally while the RNA polymerase II (Pol II) enzyme is engaged in transcriptional elongation. | 1,055 | [
21264352,
23638305,
16440002,
19656867,
22056773,
22955974,
19185575,
19710184,
11602343,
22022255,
22326677,
20631007
] |
Which are the Chompret criteria for Li-Fraumeni syndrome? | 1) According to the Chompret criteria for LFS, any patient with adrenocortical cancer (ACC), irrespective of age and family history, is at high risk for a TP53 germline mutation.
2) All families with a p53 mutation must have at least one family member with a sarcoma, breast, brain, or adrenocortical carcinoma (ACC). | 927 | [
19204208,
22170717
] |
Has amantadine ER been approved by the FDA? | Yes, amantadine ER is an US FDA-approved treatment. | 3,583 | [
29532440
] |
What histone modification is recognized by the bromodomain? | Acetylated lysines in histones (generally H3 and H4) | 379 | [
15143168,
23095041,
16265664,
21189220,
21596426,
10746732,
15014446,
21271695,
15970672,
21851057,
17049045,
10716917,
15382140
] |
Is mitofusin 2 a receptor for parkin? | Yes, Mfn2 functions as a mitochondrial receptor for Parkin. | 1,733 | [
19076450,
21252228,
23958438,
22807239,
23620051,
22914740,
20871098,
23845246
] |
Is ocular melanosis a risk factor for uveal melanoma? | Yes, ocular melanosis (melanosis oculi) is a risk factor for uveal melanoma. | 2,016 | [
21670341,
1520683,
9442799,
23681424,
12647250,
8292886,
6677847
] |
Is it feasible to determine the complete proteome of yeast? | Yes, since the complete genome of yeast is known. | 340 | [
16784548,
23438854,
23334424,
12912986,
14730684,
15768030
] |
Which major signaling pathways are regulated by RIP1? | necroptosis
apoptosis
pro-survival/inflammation NF-κB activation | 1,327 | [
25326752,
24874734,
23674612,
25767797,
24224954,
25391899,
24460252
] |
Is there a BRCA mutation analysis in the Greek population? | Yes. Molecular analysis of the BRCA1 and BRCA2 genes in 898 Greek families was performed using Sanger sequencing or Next Generation Sequencing for the detection of small insertion/deletion frameshift, nonsynonymous, truncating and splice-site alterations and MLPA for the detection of large genomic rearrangements. In total, a pathogenic mutation was identified in 12.9% of 898 families analyzed. Of the 116 mutations identified in total 9% were novel and 14.7% were large genomic rearrangements. | 3,493 | [
29310832
] |
List proteins that are contained in atherosclerotic plaques? | extracellular matrix proteins
biglycan
Lumican
Apolipoprotein A-I | 4,132 | [
29907817,
31382484,
29129081,
32012358
] |
What tissue is most affected in Ehlers-Danlos syndromes? | the ehlers-danlos syndromes (eds) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. | 1,998 | [
24278273,
22981642,
27931023,
27084695,
18328988,
16513057,
9762220,
23405630,
25518796,
8526413,
21667916,
20847697,
26452443,
25103963,
26958560,
26433894,
16638060,
16338669,
15994863,
2721265,
15817074,
22871544,
11642233,
15589118,
17621503
] |
Describe Twiddler Syndrome. | Twiddler syndrome is described as a spontaneous rotation or intentional external manipulation of implanted cardiac or occasionally deep brain stimulation (DBS) devices. | 3,652 | [
30805057,
18791330,
19693314,
1079649,
29964390,
28352427,
29759631,
23582129,
23832019,
26652885,
19436950,
24407542,
27354874,
23181182
] |
What is a P-body (processing body)? | Processing bodies (P bodies, PB) are cytoplasmic protein complexes involved in degradation and translational arrest of mRNA. | 574 | [
25529221,
25110026,
24862735,
25110034,
24569876,
24755989,
25482014,
24860588,
25514416,
24504254,
24918601,
24418890,
24292556,
25339350,
24659297,
24525673,
25437551,
25128566,
25416063
] |
How do HBS1L-MYB intergenic variants regulate fetal hemoglobin? | HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. Several HBS1L-MYB intergenic variants affect regulatory elements that are occupied by key erythroid transcription factors within this region. These elements interact with MYB, a critical regulator of erythroid development and HbF levels. Several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting long-range interactions with MYB and MYB expression levels. | 614 | [
24614105
] |
What is the indication of CPX-351? | 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. | 4,592 | [
34256819
] |
Are Copy Number Variants (CNVs) depleted in regions of low mappability? | No. Low-mappability regions are approximately 5 times more likely to harbor germline CNVs, in stark contrast to the nearly uniform distribution observed for somatic CNVs in 95 cancer genomes. | 2,955 | [
30137632
] |
Does thyroid hormone receptor beta1 affect insulin secretion? | No | 885 | [
17293442
] |
How many tissue kallikrein genes are present in the human genome? | Tissue kallikreins (KLKs) are a group of closely related serine proteinases that are represented by multigene families in the human genome. The human tissue kallikrein gene family consists of 15 genes, denoted KLK1–KLK15, tandemly arranged on chromosomal locus 19q13.4. | 1,712 | [
17210241,
11006094,
11522960,
11478802,
23093268,
10662548,
15015574,
12725528,
12925213,
20180637,
15516960,
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16800744,
18627305,
15588589,
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21596022,
20103546
] |
What is the link between ultraconserved elements and three-dimensional mammalian genome organization? | Ultraconserved elements (UCEs) occupy specific arenas of three-dimensional mammalian genome organization. UCEs are enriched within contact domains and, further, that the subset of UCEs within domains shared across diverse cell types are linked to kidney-related and neuronal processes. In boundaries, UCEs are generally depleted, with those that do overlap boundaries being overrepresented in exonic UCEs. Regarding loop anchors, UCEs are neither overrepresented nor underrepresented, but those present in loop anchors are enriched for splice sites. As the relationships between UCEs and human Hi-C features are conserved in mouse, UCEs contribute to interspecies conservation of genome organization and, thus, genome stability. | 2,815 | [
29996107
] |
Which hormone concentrations are altered in patients with the Allan–Herndon–Dudley syndrome? | Thyroid hormone concentrations are altered in patients with the Allan-Herndon-Dudley syndrome. In particular, high serum T3 levels and low-normal to low T4 serum levels are common in the Allan-Herndon-Dudley syndrome. It is, an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination. | 1,531 | [
21303950,
20435089,
19641107,
19936787,
22890106,
23235483,
24027558,
19541799,
21835051,
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22543196,
18398436,
20713192,
23550058,
24275187,
23419639,
17574010
] |
What is the incidence of beta-thalassemia in Greek population? | The incidence of beta-thalassemia trait is 8% in Greek population. | 1,774 | [
12091129,
1620378,
7590514
] |
Where is the angiogenin binding element located? | Angiogenin binds to CT repeats that are abundant in the nontranscribed region of the ribosomal RNA gene. An angiogenin-binding DNA sequence (CTCTCTCTCTCTCTCTCCCTC) has been identified and designated angiogenin-binding element (ABE). | 625 | [
3289612,
9413551,
7875314,
24122807,
2813401,
12515546
] |
What is the purpose of the Tabix tool? | Tabix is the first generic tool that indexes position sorted files in TAB-delimited formats such as GFF, BED, PSL, SAM and SQL export, and quickly retrieves features overlapping specified regions. Tabix features include few seek function calls per query, data compression with gzip compatibility and direct FTP/HTTP access. Tabix is implemented as a free command-line tool as well as a library in C, Java, Perl and Python. It is particularly useful for manually examining local genomic features on the command line and enables genome viewers to support huge data files and remote custom tracks over networks. | 2,633 | [
21208982
] |
Is bapineuzumab effective for treatment of patients with Alzheimer's disease? | Clinical trials have demonstrated that bapineuzumab, a humanized monoclonal antibody against the end terminus of amyloid plaques, is not effective for treatment of patients with Alzheimer's disease. The burden of beta amyloid plaques was reduced in response to bapineuzumab therapy. However, bapineuzumab therapy did not improve cognitive functioning and was associated with significant adverse effects in Alzheimer's disease patients. | 367 | [
22339463,
23861639,
24489866,
23085451,
20154508,
22305802,
23894286,
22506132,
20497044,
24216217,
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19923550,
23568994,
22815077,
24255592,
22957288,
23847530,
23582316,
21592055
] |
What is libgapmis? | libgapmis is a library for extending pairwise short-read alignments. Apart from the standard CPU version, it includes ultrafast SSE- and GPU-based implementations. libgapmis is based on an algorithm computing a modified version of the traditional dynamic-programming matrix for sequence alignment. The open-source code of libgapmis is available at http://www.exelixis-lab.org/gapmis. | 2,490 | [
24564250
] |
Elaborate on the association between Genomic Regulatory Blocks (GRBs) and target genes | Genomic regulatory blocks (GRBs) are chromosomal regions spanned by highly conserved non-coding elements (HCNEs), most of which serve as regulatory inputs of one target gene in the region. The target genes are most often transcription factors involved in embryonic development and differentiation. GRBs often contain extensive gene deserts, as well as additional 'bystander' genes intertwined with HCNEs but whose expression and function are unrelated to those of the target gene. GRB target genes have properties that set them apart from their bystanders as well as other genes in the genome: longer CpG islands, a higher number and wider spacing of alternative transcription start sites, and a distinct composition of transcription factor binding sites in their core/proximal promoters. Target gene expression correlates with the acetylation state of HCNEs in the region. | 800 | [
19969543,
17387144,
17989259,
21619633,
19374772
] |
Can methylenetetrahydrofolate reductase (MTHFR) gene mutations cause homocystinuria? | Yes, several methylenetetrahydrofolate reductase (MTHFR) gene mutations can cause homocystinuria and hyperhomocysteinemia. | 2,090 | [
2629632,
12673793,
16629766,
10679944,
14656017,
10923034,
22521626,
23095199,
27130656,
17457696,
23533858,
9781030,
17349292,
21626167,
9453374,
8124871,
20236116,
20532821,
10980581,
24461181,
11592438,
9490685,
11181567
] |
What are the main benefits of pharmacophore models? | As researchers continue to search for new targets of therapeutic interest, transmembrane and G-protein coupled receptors are of ever-increasing importance. However, crystal structures for these targets may be impossible to resolve, posing great challenges in rational drug design. Structure-based virtual screening is not an option when the active site geometry is unknown, but assaying an entire library for hits is an inefficient and expensive proposition.
Pharmacophore modeling solves this problem by determining the spatial arrangement of chemical features that confer drug activity toward a target receptor. Having established the chemical space occupied by active ligands, pharmacophore modeling software allows researchers to create 3-D structure-activity relationships, screen databases, and generate hits without the benefit of a receptor structure. | 1,734 | [
24287559,
23662282,
24245803,
22192589,
24112046,
24140950,
24294969,
24212027,
20838973,
24119198
] |
Which species may be used for the biotechnological production of itaconic acid? | In 1955, the production of itaconic acid was firstly described for Ustilago maydis. Some Aspergillus species, like A. itaconicus and A. terreus, show the ability to synthesize this organic acid and A. terreus can secrete significant amounts to the media. Itaconic acid is mainly supplied by biotechnological processes with the fungus Aspergillus terreus. Cloning of the cadA gene into the citric acid producing fungus A. niger showed that it is possible to produce itaconic acid also in a different host organism. | 1,471 | [
17697977,
20461508,
21324422,
17451943,
22752264,
23397482,
23298766,
22480369,
23420787,
12146646,
22956279,
22925689,
1366363
] |
Is there an association between serum interleukin-6 concentrations and outcomes of stroke patients? | Yes. Greater serum interleukin-6 concentrations are associated with worse outcomes in ischemic and hemmorhagic stroke patients | 1,176 | [
18685925,
14730251,
25295149,
19901973,
17337911,
18048088
] |
List versions of ExpansionHunter | ExpansionHunter and ExpansionHunter Denovo | 4,158 | [
32345345,
31134279
] |
Givosiran is used for treatment of which disease? | Givosiran is approved for treatment of porphyria. | 4,013 | [
30726693,
32034693,
33139979,
32521132,
33043761,
32592692,
31792921,
30847674,
31994716,
33275677
] |
Which is the most common type of pediatric cerebellar tumor? | Medulloblastoma is the most common malignant cerebellar tumor seen in the pediatric age group, which has a known ability to metastasize extraneurally. | 755 | [
23951168,
21315459,
16479172,
9447621,
21681603,
25499213,
6502196
] |