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157
What is the name of the stem loop present in the 3' end of genes encoding for selenoproteins?
SECIS (selenocysteine insertion sequence)
1051
[ "22209284", "9256076", "23783574", "19467292", "23603359", "8634917", "17901054", "23788723", "10567350", "24251578", "11839807", "20385601", "8601283", "23614019", "17470795", "8344267", "11092556", "19179357", "17715293", "15791204", "8602359", "10334333", "8955902" ]
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.
1252
[ "23540417", "21689988", "23724071", "25060169", "23154636", "23304207", "21292560", "10407891", "12509211", "11437309", "25383198" ]
Dinutuximab is used for treatment of which disease?
Dinutuximab, a monoclonal antibody against disialoganglioside, is used for treatment of high-risk neuroblastoma.
2649
[ "26934530", "28389455", "27756784", "25940913", "28061552", "28748630", "26917818", "26791869", "26891967" ]
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
[ "25891173", "25324906", "25034862", "25828465", "25605845", "25960664", "24685885", "26028255" ]
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.
3942
[ "29680938", "31465299", "33085861", "31401630" ]
Is belimumab effective for the lupus nephritis?
Yes, belimumab appears to effective for the lupus nephritis.
4165
[ "32591783", "24014569", "32537456", "33186226", "29514612", "25969652", "26712500", "32937045", "32755035" ]
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
[ "23847141", "24126373", "16044424", "22970697", "7654063", "16885236", "8090716" ]
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.
1667
[ "22649506", "22893128", "19633228", "15946860", "23694700", "23935863", "22072984", "23015295", "23819581", "24147068", "23704925", "23799614", "23450047" ]
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.
2529
[ "10623985", "20306414", "3425783" ]
What is resistin?
The adipocyte-secreting adipokine, resistin, may play a critical role in the modulation of inflammatory diseases.
3221
[ "18191042", "29278852", "29937317", "14644422", "24780007", "19024936", "23981771", "12660880", "19095472", "14962997", "18417718", "30353146", "15103228", "27079485", "26729407" ]
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.
2954
[ "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
1673
[ "21311168", "23242657", "23047984", "20724368", "21690193", "19440340" ]
Does prolactinoma increase osteoporosis risk?
Yes, prolactinomas increase risk of osteoporosis. Prolactinomas also cause hypogonadism, infertility, and tumor mass effects.
2496
[ "23965473", "26243714", "11293923", "17578827", "9550540", "15816365", "25472533", "27446618", "22553947", "26319389", "21479837", "20205855" ]
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.
3729
[ "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.
3045
[ "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.
3549
[ "29334914", "16938764", "29255950", "29874194", "16197535", "27698338", "23056690", "26354489", "12752575", "29237697", "30501443", "29383495", "27555148", "20051279", "21073617", "17880786", "29866068", "12497758", "17880814", "16937455", "20200814", "29492088" ]
What percentage of currently available drugs are metabolized by CYP3A4?
CYP3A4 metabolizes approximately 50% of the drugs available today on the market.
4332
[ "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.
1479
[ "19498465", "10790371", "23261540", "12663654", "22850285", "17158926", "8366095", "24091702", "22199256", "9857019" ]
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.
4197
[ "2176962", "11534818", "7416166", "7828232", "28374668", "3721910" ]
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.
4581
[ "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).
3600
[ "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.
1729
[ "21062273", "21277190", "20493457", "24170257", "22709267", "24315539", "21967765", "21762454", "22787616", "22612257", "23409955", "22787626", "21770924", "22596016", "18469812", "20876469", "24189369", "23531706", "20845763", "20887364", "21204804", "24095819", "20887371", "21753172", "21364700", "19557857", "22722545" ]
List packages for transcription factor binding sites' (TFBS) analysis available in R/Bioconductor
Neighbourhood Consistent PC (NCPC) algorithms, MMDiff and cosmo.
650
[ "17550915", "12176838", "17402923", "23144600", "24267901" ]
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.
2792
[ "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.
2335
[ "29069650", "28530548", "28374903", "28250012", "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.
2665
[ "28073888", "28273952", "27694892", "28041746", "28125844" ]
Is sacituzumab govitecan effective for breast cancer?
Yes. Sacituzumab Govitecan is a new and available treatment for metastatic triple-negative breast cancer.
4469
[ "34176192", "31584574", "32529410", "34651524", "34761708", "33187148", "34404686", "31398063", "34671504", "34688044", "26577300", "34467774", "30867160", "33882206", "30507322", "33816696", "28291390" ]
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.
1425
[ "19656325", "25470471", "23884489", "25402764", "21073357", "25230094", "20725548", "26132941", "20565969", "23407924", "20545686", "24256215", "22845050", "23277150" ]
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
3859
[ "19488000", "31130881", "23109125", "24696870", "32116839", "19996040", "32587531", "31136275", "21903028", "25345238", "17914327", "20011576", "26149466", "20222492", "17074941" ]
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
[ "18856066", "17382535", "20520718", "23132836", "21371446", "17204284", "15990723", "17163847", "22930255", "12671708", "18376799", "20514400", "16360419", "15195112", "17611626", "14719083", "10626797", "16619249", "18425079", "15138808" ]
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
[ "19579175", "25423562", "24228714", "24610704", "25207602", "25422900", "25534555", "20945020" ]
Does thyroid hormone affect cardiac remodeling?
TH affects cardiac remodeling
1097
[ "19951746", "20668933", "19826181", "23532677", "17389455", "21568669", "22039709", "18773293", "22134702", "17024559", "21159857", "17560116", "20926779", "23555069", "16499159", "18622044", "18430565", "22403173", "20560106", "18274800", "18455802", "20730619", "23820669" ]
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.
1382
[ "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.
1133
[ "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
3363
[ "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.
3710
[ "23593142" ]
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.
2904
[ "29500635" ]
What is the indication for Favipiravir?
Favipiravir (FVP) has been used for treatment of COVID-19 in many countries.
4356
[ "34539392", "32097670", "34592006", "24084488", "33624584", "34464921", "22809499", "33746092", "32405421", "33555378", "33364790", "33647553", "24563658", "34548811", "33191372", "32645335", "33130203", "34339547", "29524445", "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).
3598
[ "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.
3823
[ "26673713", "22013161", "24304894", "30496479" ]
Variants in which genes cause nonsyndromic retinal degeneration?
Variants in DYNC2H1, IFT81, USH2A and ABHD12 can cause nonsyndromic retinal degeneration.
3745
[ "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.
4694
[ "34849585" ]
Are DNA methylation maps applicable to the diagnosis of non-small-cell lung carcinomas?
Yes.
1345
[ "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.
1055
[ "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.
3583
[ "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.
1733
[ "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.
2016
[ "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
1327
[ "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.
3493
[ "29310832" ]
List proteins that are contained in atherosclerotic plaques?
extracellular matrix proteins biglycan Lumican Apolipoprotein A-I
4132
[ "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.
1998
[ "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.
3652
[ "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.
4592
[ "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.
2955
[ "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.
1712
[ "17210241", "11006094", "11522960", "11478802", "23093268", "10662548", "15015574", "12725528", "12925213", "20180637", "15516960", "12727843", "21741862", "12439719", "12439720", "17275179", "16170411", "21072173", "11258672", "15192120", "14710225", "16800725", "1697365", "20354523", "16829021", "11177570", "16800742", "16800744", "18627305", "15588589", "20574445", "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.
2815
[ "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.
1531
[ "21303950", "20435089", "19641107", "19936787", "22890106", "23235483", "24027558", "19541799", "21835051", "21896621", "23592749", "17899191", "21264952", "18589880", "21825978", "24268987", "21098685", "19811520", "15889350", "22719050", "20879691", "23161551", "20628049", "15980113", "20083155", "24170966", "19018842", "23392090", "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.
1774
[ "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.
2633
[ "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", "19585948", "23874844", "23574434", "21091109", "22529838", "23931438", "20929585", "20122289", "23299380", "23555764", "23663286", "21501112", "20189881", "23599675", "23416764", "24086465", "19674435", "20205639", "23255116", "24434253", "23809364", "23210837", "21263194", "22357853", "20388189", "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.
2490
[ "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.
2090
[ "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.
1734
[ "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.
1471
[ "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
1176
[ "18685925", "14730251", "25295149", "19901973", "17337911", "18048088" ]
Givosiran is used for treatment of which disease?
Givosiran is approved for treatment of porphyria.
4013
[ "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" ]
Describe the mechanism of action of Bezlotoxumab?
Bezlotoxumab (Zinplava™) is a human monoclonal antibody against Clostridium difficile toxin B (TcdB). It is used for prevention of recurrent C. difficile infections.
2148
[ "25385797", "25451052", "27757389", "25486992", "27527088", "24821719", "27753689", "27905086" ]
What is the use of the CAHP score?
CAHP (cardiac arrest hospital prognosis) score is used to evaluate prognosis after cardiac arrest.
4453
[ "32976962", "32330180", "26497161", "34289964", "31987887", "33922191", "34302930", "30797049", "29555261" ]
Is verubecestat effective for Alzheimer’s Disease?
No. Verubecestat is not effective for treatment of Alzheimer’s Disease.
3003
[ "29461065", "28749667", "29719179", "29397980" ]
Which tissues express the ACE2 protein?
Abundant ACE2 immunostaining was found in lung, kidney, heart, and islets of pancreas, but not in hepatocytes
3409
[ "24564768", "19333547", "15221932", "19014390" ]
How are nucleosome posisitions correlated with sites of 5'-methyl-cytosine (5mC) or 5-hydroxy-methyl-cytosine (5hmC)?
We find that Mbd3 and Brg1 antagonistically regulate a common set of genes by regulating promoter nucleosome occupancy. outside of CpG islands most CpGs are methylated, and the average methylation density oscillates so that it is highest in the linker region between nucleosomes we have investigated nucleosome organization around hypomethylated regions (HMRs)
3306
[ "26832418", "24812327", "22196727", "25263161", "25506399" ]
Which therapeutic interventions for sarcopenia have been applied
The main bulk of experimental pharmacological interventions addressing the clinical problem of frailty have been focused on the use of hormones, as replacement therapy in subjects with low or normal circulating basal levels of the hormone. Results have been disappointing, except for the case of testosterone that have shown some benefits. The effectiveness of other potential therapeutic interventions (antioxidants, anti-inflammatory agents, nutritional supplements) appears to be limited or has not been explored in detail until now.
801
[ "24079768", "20852673", "20223299" ]
Is there high nucleotide diversity in the Drosophila suzukii species?
Native to Asia, the soft-skinned fruit pest Drosophila suzukii has recently invaded the United States and Europe. The eastern United States represents the most recent expansion of their range, and presents an opportunity to test alternative models of colonization history. There are high levels of nucleotide diversity in this species and research suggests that the recent invasions of Europe and the continental United States are independent demographic events.
3884
[ "25158796" ]
Which are the subunits of the transcription factor NF-kappaB in the canonical pathway activation?
The NF-κB canonical pathway is mediated by the p65/relA and p50 subunits.
1186
[ "17686849", "22726116", "23636254" ]
Describe King–Kopetzky syndrome.
The principal symptom of subjects suffering from King-Kopetzky syndrome (Obscure Auditory Dysfunction) is perceived difficulty in recognizing and understanding speech in noisy backgrounds. For some patients, minor disturbances in auditory function, e.g. a deteriorated signal-to-noise ratio for speech, can be demonstrated; for others, all measurements of hearing are normal.
2471
[ "20500033", "16562562", "20380613", "8738633", "10997453", "14558893", "11603771", "8985564", "10380733", "14570238" ]
Which genes are involved in patient response to warfarin?
The following genes have been associated with patient response to warfarin: CYP2C9, VKORC1, ORM1, CYP4F2, EPHX1, CYP2C18, CYP2C19, CYP3A5, protein S, clotting factor V, PROC, GGCX.
482
[ "23208322", "20854800", "19538716", "11213860", "21590310", "16611750", "22952875", "20210733", "18464049", "18034618", "21713343", "22122181", "19752777", "19348697", "20615525", "17496169", "19794411", "22023024", "23342320", "19069171", "21651319", "18752379", "22321278", "19135231" ]
What is the rate of survival after commotio cordis?
Survival rates for commotio cordis are low, even when resuscitation is performed. Survival rates vary between 10% and 28%.
348
[ "23107651", "11879111", "11555799", "20086611", "21763255", "23015869" ]
Which is the binding site motif of Sp1?
Sp1 binds to a GC-rich sequence element containing the decanucleotide consensus sequence 5′-(G/T)GGGCGG(G/A)(G/A)(C/T)-3′ (GC box element) in double stranded DNA (dsDNA). Gel shift competition studies and DNase I footprinting analyses revealed that Sp1 specifically interacts with the CACCC motif.
1200
[ "22021377", "9261349", "10777687", "12684058", "8702907", "8063775" ]
What disease is treated with BIVV001?
BIVV001 fusion protein has been developed as Factor VIII replacement therapy for hemophilia A
4207
[ "32078672", "32905674" ]
How does dabigatran therapy affect aPTT in patients with atrial fibrillation?
Dabigatran increases aPTT in patients with atrial fibrillation, although aPTT does not respond linearily to dabigatran therapy.
662
[ "23680005", "23784008", "22398858", "22293451", "24151507", "22608344", "22539097", "23100377" ]
What does a PET (Positron Excitation Tomography) measure?
Positron Excitation Tomography (PET) is a simple, reliable, and valid method of assessing brain activity in patients with Parkinson's disease (PD).
3367
[ "28168704", "2101731", "18988199", "9439081", "23575833" ]
Is endotrophin derived from collagen?
Yes, Endotrophin is released from COL VI.
3248
[ "30246318", "29229941", "29175445" ]
Is Lanabecestat effective for Alzheimer's disease?
No. Treatment with lanabecestat was well tolerated and did not slow cognitive or functional decline of Alzheimer's disease patients.
4025
[ "33049114", "31764959" ]
What is the role of the MCM2-7 complex?
The MCM2-7 complex is a ring-shaped heterohexamer helicase, that unwinds the DNA double helix ahead of the other replication machinery. During pre-replication complex (pre-RC) formation, origin recognition complex (ORC), Cdc6, and Cdt1 cooperatively load a double-hexameric MCM2-7 complex onto DNA. Loading of MCM2-7 is a prerequisite for licensing of eukaryotic DNA replication. During S phase MCM2-7 functions as part of the replicative helicase but within the pre-RC MCM2-7 is inactive.
2233
[ "15653632", "21460226", "12694531", "15286659", "26582917", "19910535", "26940553", "19357199", "19270162", "12527764", "25319829", "22045335", "22351771", "23376927", "19805216", "23720738", "23518502", "17314092", "12059957", "22918581", "12087101", "15108800", "15522891", "21196493", "23977294", "24234446", "19481678", "23864661", "18824790", "18606811", "21799014", "19540846", "21070963", "23817338", "24947836" ]
What is the function of the PDZ domain in SATB1?
N-terminal PDZ-like domain of chromatin organizer SATB1 contributes towards its function as transcription regulator. We found this dimerization region to have sequence similarity to PDZ domains, which have been previously shown to be involved in signaling by conferring protein-protein interactions. These studies clearly demonstrated the role of PDZ domain of SATB1 in global gene regulation presumably through its interaction with other cellular proteins. PDZ domain-mediated dimerization and homeodomain-directed specificity are required for high-affinity DNA binding by SATB1.
3672
[ "11463840", "21799257", "18187506" ]
Does the CTCF protein co-localize with cohesin?
Recent genome-wide studies mapping the binding sites of CTCF and its interacting partner, cohesin, using chromatin immunoprecipitation coupled with deep sequencing (ChIP-seq) revealded that CTCF globally co-localizes with cohesin.
95
[ "19369356", "19109133", "18550811", "19308701", "22550178", "20219941", "22952237", "21970734", "23295672", "23498937", "21876668", "22780989", "21880767", "24257606", "21106760", "21948239", "23204437", "21606361", "23010778", "18623068", "20133600", "24321385", "21444719", "21628529", "23804403", "22440186", "23945083", "19158269" ]
Does TIMELESS-TIPIN participate in replisome disassembly?
Yes. TIMELESS-TIPIN and UBXN-3 promote replisome disassembly during DNA replication termination in Caenorhabditis elegans.
4368
[ "34269473" ]