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Are piRNAs involved in gene silencing?
Piwi induces piRNA-guided transcriptional silencing and establishment of a repressive chromatin state. piRNA-guided slicing of transposon transcripts enforces their transcriptional silencing via specifying the nuclear piRNA repertoire. Transcriptional silencing implies a piRNA-mediated formation of repressive chromatin which diminishes the transcriptional capacity of the target locus.
1,059
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Is methotrexate used for the treatment of Rheumatoid Arthritis (RA)?
Yes, methotrexate is effective for the treatment of Rheumatoid Arthritis. MTX can be administered in combination with other chemotherapeutic agents or as mono-therapy. Response rate to MTX is more than 90%. MTX therapy is associated with improved survival of RA patients.
4,138
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Is there any research that relates the function of Notch Signaling with Alzheimer Disease?
Notch signaling is an evolutionarily conserved pathway, which is fundamental for neuronal development and specification. In the last decade, increasing evidence has pointed out an important role of this pathway beyond embryonic development, indicating that Notch also displays a critical function in the mature brain of vertebrates and invertebrates. This pathway appears to be involved in neural progenitor regulation, neuronal connectivity, synaptic plasticity and learning/memory. In addition, Notch appears to be aberrantly regulated in neurodegenerative diseases, including Alzheimer's disease and ischemic injury
1,491
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What is transvection?
An unusual feature of the Diptera is that homologous chromosomes are intimately synapsed in somatic cells. At a number of loci in Drosophila, this pairing can significantly influence gene expression. Such influences were first detected within the bithorax complex (BX-C) by E.B. Lewis, who coined the term transvection to describe them. Most cases of transvection involve the action of enhancers in trans. At several loci deletion of the promoter greatly increases this action in trans, suggesting that enhancers are normally tethered in cis by the promoter region. Transvection can also occur by the action of silencers in trans or by the spreading of position effect variegation from rearrangements having heterochromatic breakpoints to paired unrearranged chromosomes. Although not demonstrated, other cases of transvection may involve the production of joint RNAs by trans-splicing. Several cases of transvection require Zeste, a DNA-binding protein that is thought to facilitate homolog interactions by self-aggregation. Genes showing transvection can differ greatly in their response to pairing disruption. In several cases, transvection appears to require intimate synapsis of homologs. However, in at least one case (transvection of the iab-5,6,7 region of the BX-C), transvection is independent of synapsis within and surrounding the interacting gene. The latter example suggests that transvection could well occur in organisms that lack somatic pairing. In support of this, transvection-like phenomena have been described in a number of different organisms, including plants, fungi, and mammals.
609
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Which cells express CIDEC protein in humans?
The cell death-inducing DNA fragmentation factor alpha-like effector c (CIDEC) is a lipid droplet-associated protein that promotes intracellular triglyceride (TAG) storage. CIDEC is highly expressed in adipocytes, but undetectable in normal liver. However, its hepatic expression rises during fasting or under genetic or diet-induced hepatosteatosis in patients.
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What disease is associated with a Malar rash?
Cutaneous manifestations of SLE are frequently the presenting symptoms, typically noted in the classic malar "butterfly" rash;
3,657
[ 1824645, 31619142, 891079, 27498665, 7607795 ]
Which are the problems associated with the use of PD-L1 as immunotherapy biomarker?
The use of PD-L1 (B7-H1) immunohistochemistry (IHC) as a predictive biomarker is confounded by multiple unresolved issues: variable detection antibodies, differing IHC cutoffs, tissue preparation, processing variability, primary versus metastatic biopsies, oncogenic versus induced PD-L1 expression, and staining of tumor versus immune cells
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Is tirilazad effective for treatment of aneurysmal subarachnoid haemorrhage?
No. Based on meta-analysis, there is no evidence that tirilazad, in addition to nimodipine, reduces mortality or improves poor outcome in patients with aneurysmal subarachnoid haemorrhage.
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Which animal bite can cause Capnocytophaga canimorsus infection?
Capnocytophaga canimorsus infection is typically associated with dog bites, especially in asplenic or immunocompromised patients, and typically manifest as sepsis and/or bacteremia.
4,101
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Does RNA polymerase II have RNA cleavage activity?
In addition to RNA synthesis, multisubunit RNA polymerases (msRNAPs) support enzymatic reactions such as intrinsic transcript cleavage. The eukaryotic transcription factor TFIIS enhances elongation and nascent transcript cleavage activities of RNA polymerase II in a stalled elongation complex.
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Describe GREEKC
The COST Action Gene Regulation Ensemble Effort for the Knowledge Commons (GREEKC, CA15205, www.greekc.org) organized nine workshops in a four-year period, starting September 2016. The workshops brought together experts from all over the world working on various steps in the knowledge management process that focuses on understanding gene regulatory mechanisms.
4,254
[ 34757206 ]
What is the mechanism of action of magrolimab?
Magrolimab is an anti-CD47 antibody with promising results for myelodysplastic syndromes and acute myeloid leukemia.
3,824
[ 32038992, 33279177 ]
Which methods exist for efficient calculation of Elementary flux modes (EFMs) in genome-scale metabolic networks (GSMNs)?
EFM-Ta is a novel algorithm that uses a linear programming-based tree search and efficiently enumerates a subset of EFMs in genome-scale metabolic networks (GSMNs). The stand-alone software TreeEFM is implemented in C++ and interacts with the open-source linear solver COIN-OR Linear program Solver (CLP).
4,134
[ 25380956, 32348455 ]
What is Trypan blue used for?
Trypan blue is used in the "trypan blue exclusion assay" for assessing cell viability/cell death.
1,159
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What is EPICCURE?
EPICCURE is an ongoing randomized, double-blind, placebo-controlled study of the safety of AZD8601 in patients with moderately decreased left ventricular function (ejection fraction 30%-50%) undergoing elective coronary artery bypass surgery. EPICCURE combines high-efficiency delivery with quantitative targeting and follow-up for robust assessment of the safety and exploratory efficacy of VEGF-A mRNA angiogenesis (ClinicalTrials.gov: NCT03370887).
4,029
[ 32728595 ]
List the functions of the protein lactotransferrin.
Lactotransferrin has numerous biological roles, including the regulation of iron absorption and modulation of immune responses, and has anti-microbial, anti-viral, antioxidant, anti-cancer, and anti-inflammatory activities.
3,110
[ 26137081, 25535701, 29756573 ]
Is there any genetic determinant of hair pigmentation that could be useful in forensic analyses?
Yes, there are at least 12 genes associated with human hair color variation such as: TYR, TYRP1, OCA2, SLC45A2, SLC24A5, MC1R, ASIP and KITLG.
1,406
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What is the lay name of the treatment for CCSVI (chronic cerebro-spinal venous insufficiency) in multiple sclerosis.
The so-called "LIberation therapy" is in fact Endovascular Treatment and consists of PTA (Percutaneous Transluminal Angioplasty), which is dilatation of the internal jugular and/or azygous veins by a catheter venography. Stent placement is optional but has been strongly advised against as being dangerous.
1,645
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Is the yeast (Saccharomyces cerevisiae) genome organized into topologically associated domains (TADs)?
Yes. By analyzing Hi-C data for budding yeast, 200-kb scale topologically associated domains (TADs) have been identified, whose boundaries are enriched for transcriptional activity.
3,054
[ 28780612, 28348222 ]
What is dystopia canthorum?
Dystopia canthorum is defined as a prominent broad nasal root with increased intercanthal distance.
3,474
[ 25224968, 21915450, 14166458 ]
Is phospholamban a regulatory/inhibitory protein of the Ca ATPase SERCA?
Phospholamban (PLB) is a 24- to 27-kDa phosphoprotein that modulates activity of the sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA). Expression of PLB is reportedly limited to cardiac, slow-twitch skeletal and smooth muscle in which PLB is an important regulator of [Ca2+]i and contractility in these muscles.The membrane protein complex between the sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) and phospholamban (PLN) controls Ca(2+) transport in cardiomyocytes, thereby modulating cardiac contractility. β-Adrenergic-stimulated phosphorylation of PLN at Ser-16 enhances SERCA activity via an unknown mechanism.
509
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Is galcanezumab effective for treatment of migraine?
Yes. Galcanezumab is a humanized monoclonal antibody binding calcitonin gene-related peptide that is used for migraine prevention.
3,006
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What cellular process is JAK/STAT involved in?
The Janus Kinase/Signal Transducers and Activators of Transcription (JAK/STAT) signaling pathway is utilized by numerous cytokines and interferons, and is essential for the development and function of both innate and adaptive immunity.
3,319
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Does hypofractionated radiotherapy offers any benefit for DIPG?
No. Hypofractionated radiotherapy does not offers benefit when compared to conventional fractionated radiation therapy for DIPG.
4,053
[ 31785177, 31728883, 21327862, 24560760, 33080729 ]
Which deep learning-based algorithms are used for enhancer prediction?
EP-DNN and DEEP.
2,127
[ 25378307, 26091399, 27929098, 27490187, 27329130 ]
Does the royal jelly contain proteins?
Yes, main bioactive compounds of Royal Jelly, include proteins and peptides.
4,400
[ 31936187, 32042077, 33297150, 31473899 ]
Which drug can be reversed with idarucizumab?
Idarucizumab is an antibody fragment that specifically reverses dabigatran mediated anticoagulation.
2,340
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What is Alzheimers disease resilience?
Some 30 to 50% of older individuals who harbor AD pathology do not become symptomatic in their lifetime. It is hypothesized that such individuals exhibit cognitive resilience that protects against AD dementia.
2,556
[ 28025282, 28921611, 27358062, 27815399 ]
Proteomic analyses have revealed proteins associated with the triple-negative breast cancers. List some proposed proteins.
Selected proteins of interest proposed from triple-negative cancer proteomic studies are CD44, PARP1, Mage-A4, LSR, RAB25, S100A14, MUC1, Hsp90, Actin, 14-3-3, vimentin, HSP70, CK18, moesin, IDH2, CRABP2, SEC14L2, beta-catenin, MUC18, Stat1 and CD74.
251
[ 20005186, 20068102, 22934887, 22178447, 19485423, 23436753, 19416831, 22414580, 21630460, 23172894, 22692575 ]
Where do centromeres locate according to the Rabl orientation of eukaryotic nuclei?
The Rabl orientation is an example of the non-random arrangement of chromosomes, centromeres are grouped in a limited area near the nuclear periphery and telomeres are located apart from centromeres.
2,401
[ 11559751, 3219911, 14555468, 24424980, 10806101, 20501974 ]
What is Jackhammer esophagus?
Jackhammer esophagus (JE) is a hypercontractile esophageal motor disorder defined by at least two swallows with a distal contractile integral (DCI) >8000 mm Hg.s.cm during high-resolution manometry (HRM).
4,710
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Which disease category is LB-100 mostly assessed for?
LB-100 is designed to sensitize cancer cells to DNA damage from irradiation and chemotherapy. It is assessed for its therapeutic potential against cancer.
3,625
[ 28039265, 29294092, 26799670 ]
What is DENdb?
DENdb is a centralized on-line repository of predicted enhancers derived from multiple human cell-lines. DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines. DENdb provides information about the overlap of enhancers with DNase I hypersensitive regions, ChIP-seq regions of a number of transcription factors and transcription factor binding motifs, means to explore enhancer interactions with DNA using several chromatin interaction assays and enhancer neighbouring genes. DENdb is designed as a relational database that facilitates fast and efficient searching, browsing and visualization of information.
1,935
[ 26342387 ]
From which tissue was the NCI-H520 cell-line derived?
Non-small cell lung cancer (NSCLC) cell line NCI-H520. Squamous cell carcinoma cell line NCI-H520.
316
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Is there a role of proton beam therapy in medulloblastoma treatment?
Yes, proton beam therapy is used for treatment of medulloblastoma.
1,992
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Is cystatin C or cystatin 3 used as a biomarker of kidney function?
Yes, cystatin C (CysC) is a novel biomarker of renal function.
874
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Selexipag is used for which disease?
Selexipag is a novel, oral, selective prostacyclin (PGI2) receptor agonist in clinical development for the treatment of pulmonary arterial hypertension.
1,160
[ 26152132, 24392948, 25277144, 22918043, 22362844 ]
What is the human RCA locus size in bps?
The human RCA locus is located on chromosome 1 (CA1) and consists of approximately 750 kb.
3,669
[ 2451706, 2564419, 19319518, 2164822 ]
What is Xanamem?
UE2343 was identified as a potent, orally bioavailable, brain-penetrant 11b-HSD1 inhibitor and selected for clinical studies. Reducing glucocorticoid exposure in the brain via intracellular inhibition of the cortisol-regenerating enzyme 11b-hydroxysteroid dehydrogenase type 1 (11b-HSD1) has emerged as a therapeutic strategy to treat cognitive impairment in early Alzheimer's disease (AD). UE2343 is safe, well tolerated and reaches the brain at concentrations predicted to inhibit 11b-HSD1. UE2343 is therefore a suitable candidate to test the hypothesis that 11b-HSD1 inhibition in brain improves memory in patients with AD.
3,508
[ 28012176 ]
Describe mechanism of action of Nusinersen.
Nusinersen is a modified antisense oligonucleotide that binds to a specific sequence in the intron, downstream of exon 7 on the pre-messenger ribonucleic acid (pre-mRNA) of the SMN2 gene. This modulates the splicing of the SMN2 mRNA transcript to include exon 7, thereby increasing the production of full-length SMN protein. It is approved for treatment of spinal muscular atrophy.
2,470
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Give an overview of visualizing genomes with oligopaint FISH probes.
Oligopaint probes are fluorescently labeled, single-stranded DNA oligonucleotides that can be used to visualize genomic regions ranging in size from tens of kilobases to many megabases. Coupled with fluorescence in situ hybridization (FISH) and a bioinformatic platform, this technology could be extended to any organism whose genome has been sequenced. The oligonucleotide probes are renewable, highly efficient, and able to robustly label chromosomes in cell culture, fixed tissues, and metaphase spreads. The method gives researchers precise control over the sequences they target and allows for single and multicolor imaging of chromosomal regions. It is anticipated that this technology will lead to an enhanced ability to visualize interphase and metaphase chromosomes.
1,441
[ 24510436, 23236188 ]
What are the effects of the deletion of all three Pcdh clusters (tricluster deletion) in mice?
Multicluster Pcdh diversity is required for mouse olfactory neural circuit assembly. The vertebrate clustered protocadherin (Pcdh) cell surface proteins are encoded by three closely linked gene clusters (Pcdhα, Pcdhβ, and Pcdhγ). Although deletion of individual Pcdh clusters had subtle phenotypic consequences, the loss of all three clusters (tricluster deletion) led to a severe axonal arborization defect and loss of self-avoidance.
2,879
[ 28450637 ]
Which could be some of the possible causes of hypersomnia?
Sleep-wake disturbances (SWD) with hypersomnia are common after traumatic brain injury (TBI), with decreased CSF levels of hypocretin-1, a wake-promoting neurotransmitter, in cases of sleep apnea, as well as in up to half the patients with dementia, particularly in vascular dementia, Korsakow syndrome, Parkinson's disease, and depression, where the alteration of sleep architecture may be pronounced, whereas in Alzheimer's disease prominent hypersomnolence or insomnia is typically only found in later stages of the diseases.
1,279
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Which two interleukins are inhibited by Ustekinumab?
Ustekinumab, a monoclonal antibody that binds to the shared p40 subunit of interleukin-12 and interleukin-23, is approved in the USA and Europe for moderate to severe plaque psoriasis.
2,438
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Does the BRAFV600E mutation have an effect on clinical response to radioiodine therapy?
Yes, it has been suggested that patients with papillary thyroid cancer (PTC) harbouring the BRAF(V600E) mutation have a worse prognosis.
3,545
[ 30312216, 26780618, 29549631, 26838744 ]
Which are the main causes of fetal echogenic bowel?
Fetal echogenic bowel is mainly associated to feto-maternal, intramniotic bleeding but in several cases it is linked to cystic fibrosis, cytomegalovirus (CMV), herpes simplex virus and other viral infections and fetal aneuploidy.
440
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Is there an association of alterations in ADCY7 and ulcerative colitis?
Yes. Genome-wide analyses indicate a association between mutations in ACVR1 and ulcerative colitis due to loss-of-function mutations in ADCY7.
3,994
[ 28067910 ]
Which are the main functions of G3BP1 and G3BP2 proteins?
The main functions of G3BP1 and/or G3BP2 include translation of interferon stimulated mRNAs during dengue virus infection, initiation of assembly of stress granules, regulation of PMP22 mRNA which was found to affect cell proliferation in breast cancer cells, participation in several signaling pathways involved in growth, differentiation and apoptosis in human tumor cells after overexpression, limit viral replication events during Sindbis virus (SINV) infection, and modulation of p53 and MDM2 activity.
1,307
[ 23279204, 24992036, 17297477, 18079183, 24321297, 20392851, 21957497, 22703643 ]
Does Eucommia ulmoides leaf extract ameliorates steatosis/fatty liver induced by high-fat diet?
Yes, Eucommia ulmoides leaf extract can ameliorate steatosis induced by high-fat diet.
2,991
[ 20691136, 24349058, 18306452, 28100919 ]
What is the prognostic role of thyroid hormone in patients with heart failure?
Altered thyroid profile, particularly sick euthyroid syndrome, is an independent predictor of mortality in patients with chronic heart failure, adding prognostic information to conventional clinical and functional cardiac parameters.
195
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What is the treatment of acute myocarditis?
Treatment of acute myocarditis includes antiinflammatory drugs like ibuoprofen and steroids, inotropic agents and mechanical support (intra-aortic ballon pump). TandemHeart percutaneous ventricular assist device may be used in some, more compromised, patients for few days.
323
[ 17622371, 11477833, 20207278, 17574515, 19214293, 12055771, 20034334 ]
Which molecule is inhibited by encorafenib?
Encorafenib is a BRAF inhibitor. It is a promising therapy for metastatic or inoperable melanoma with a BRAF mutation.
3,511
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Endolymphatic hydrops is associated with Meniere’s disease. Please provide a summary of endoymphatic hydrops including the symptoms and affected body part.
Endolymphatic hydrops is a disorder of the inner ear. It consists of an excessive build-up of the endolymph fluid, which fills the hearing and balance structures of the inner ear. The symptoms of endolymphatic hydrops include the feeling of pressure or fullness in the ears, hearing loss, tinnitus (ringing in the ears) and balance problems.
2,913
[ 27999985, 27942898, 27564645, 30503567 ]
What is the role of IL-18BP?
IL-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. The balance between IL-18 and IL-18BP has an important role in the inflammatory setting.
2,031
[ 26850179, 26898120, 25182570, 25807634, 26782741, 27914933, 25692120, 25548255 ]
Rindopepimut is an analog of which growth factor?
Rindopepimut is an analog of EGFRvIII. It is being tested for treatment of glioblastoma multiforme
314
[ 25186601, 23055947, 21154166, 22309662 ]
Are DNA helicases involved in progeroid syndromes?
Yes, mutations in genes coding for DNA helicases were found to induce progeroid syndromes, such as Werner syndrome (WS) or Bloom syndrome (BS).
1,030
[ 16987878, 10984715, 17131053, 15743670, 15734684 ]
Which is the third subunit of the TSC1-TSC2 complex upstream of mTORC1?
TBC1D7 was identified as a stably associated and ubiquitous third core subunit of the TSC1-TSC2 complex. It was demonstrated that TSC1-TSC2-TBC1D7 (TSC-TBC) is the functional complex that senses specific cellular growth conditions and possesses Rheb-GAP activity to negatively regulate mTORC1 activity. In agreement with this, TBC1D7 knockdown was shown to result in increased mTORC1 signaling, delayed induction of autophagy, and enhanced cell growth under poor growth conditions.
118
[ 22795129 ]
What is commotio cordis?
Commotio cordis is a term used to describe cases of blunt thoracic impact causing sudden death without structural damage of the heart
893
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Which gene is involved in CADASIL?
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common form of familial vascular dementia, is caused by mutations of the NOTCH3 gene.
947
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Is dupilumab effective for treatment of asthma?
Yes, dupilumab is effective for treatment of asthma. It works by simultaneous targeting of both IL-4 and IL-13 by blocking IL-4 receptor α.
2,975
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Which factors activate zygotic gene expression during the maternal-to-zygotic transition in zebrafish?
Nanog, Pou5f1 and SoxB1 activate zygotic gene expression during the maternal-to-zygotic transition. Maternal Nanog, Pou5f1 and SoxB1 are required to initiate the zygotic developmental program and induce clearance of the maternal program by activating miR-430 expression.
41
[ 24056933 ]
Is there a mouse model for Fanconi anemia?
A number of mouse models have already been generated with a targeted disruption of several Fanconi anemia genes, such as FANCA, FANCF, FANCM, FANCD1, etc.
1,543
[ 8879267, 11879775, 12200363, 9678061, 12135664, 10936049, 19561169, 22660274, 21240276, 21915857, 16859999, 18812474, 19427003, 9531583 ]
Which lncRNAs are induced by heatshock?
Malat1, papas, long noncoding rnas, circrna, neat1, and mirna are induced by heat shock.
4,116
[ 26634309, 26142536, 22976942, 27257073, 30305397, 27518140, 24002685, 29228702 ]
What is the general function of H3K79 methylation?
ChIP-chip tiling arrays revealed that levels of all degrees of genic H3K79 methylation correlate with mRNA abundance and dynamically respond to changes in gene activity.
1,244
[ 25079683, 25464900, 18511943, 23428873, 24795146, 18003948, 23382701, 18977325, 25417107, 25359765, 17675446, 21474073, 18285465, 24797370, 22190683, 21724828, 21741597, 24105599 ]
Does atemoya juice inhibit tye CYP3A4 enzyme?
No, atemoya juice does not inhibit CYP3A4.
4,352
[ 34881402 ]
What is CardioClassifier?
CardioClassifier (http://www.cardioclassifier.org) is a semiautomated decision support tool for clinical genome interpretation. CardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant interpretation. CardioClassifier identified putatively disease-causing variants in 33.7% of 327 cardiomyopathy cases, comparable with leading ICC laboratories. Through addition of manually curated data, variants found in over 40% of cardiomyopathy cases are fully annotated, without requiring additional user-input data.
3,001
[ 29369293 ]
List the partners of budding yeast Cdc48 that are important for disassembly of ubiquitylated CMG helicase at the end of chromosome replication
The ubiquitin-binding Ufd1-Npl4 complex recruits Cdc48 to ubiquitylated CMG helicase at the end of chromosome replication.
2,288
[ 28355556 ]
Which transcription factors are involved in E-cadherin repression during EMT?
Downregulation of E-cadherin is a crucial event for epithelial to mesenchymal transition (EMT) in embryonic development and cancer progression. Overexpression of Snail1 (Snail), Snail2 (Slug), Zeb1, Twist, SIP1 and DeltaEF1 have been found to mediate E-cadherin repression, induce the mesenchymal markers vimentin and fibronectin, and finally promote the migratory and invasive capabilities in cancer cells.
373
[ 17615296, 22406531, 22562246, 22266854, 19581928, 22833386, 24297167, 15674322, 22727060, 19295128, 18286686, 20735391 ]
Which gene has been implicated in Majeed Syndrome?
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
1,158
[ 22127713, 24811178, 19369868, 22908270, 23087183, 17330256, 25300978, 16122996, 19717560, 15994876, 20032092 ]
Which S1P receptors does fingolimod bind to?
Pharmacologically, fingolimod has been characterized as a non-selective agonist of all of the S1P receptors (S1PR), with the exception of S1P2.
3,907
[ 30776422 ]
What is the effect of CRD-BP on the stability of c-myc mRNA?
The c-myc mRNA coding region determinant-binding protein (CRD-BP) has high affinity for the coding region determinant (CRD) of c-myc mRNA. Such affinity is believed to protect c-myc CRD from endonucleolytic attack.
434
[ 12894594, 10692488, 10850408, 12024010, 9178888, 16778892, 9801297, 17264115, 11745432 ]
Mutations in which genes have been associated with Aicardi-Goutieres syndrome?
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR).
1,313
[ 19034401, 23365100, 24183309, 25500879, 17846997, 21808053 ]
What does RUNX1T1 stand for?
RUNX1T1 stands for runt-related transcription factor 1.
4,658
[ 32589708 ]
What is the common feature in congenital central hypoventilation and Mowat-Wilson syndromes?
About 30% of Hirschsprung disease (HSCR) cases are syndromic. Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (CCHS), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), cartilage-hair-hypoplasia (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and hydrocephalus due to congenital stenosis of the aqueduct of sylvius (HSAS).
639
[ 23001136, 17397038, 16443855 ]
What is targeted by Palbociclib?
Necitumumab is a fully human IgG(1) monoclonal antibody directed at the epidermal growth factor receptor (EGFR). It is used for treatment of nonsmall cell lung cancer.
1,515
[ 24216225, 25636162, 21109448, 26045340, 20197484, 21806477, 21679088, 25701171, 21815704, 23300028 ]
Mutation of which gene causes arterial tortuosity syndrome?
Arterial tortuosity syndrome is an autosomal recessive connective tissue disorder caused by loss-of-function mutations in SLC2A10, which encodes facilitative glucose transporter 10 (GLUT10).
2,447
[ 25373504, 26376865, 28726533, 22116938, 26398550 ]
What protein is encoded by the GRN gene?
Loss-of-function mutations in the gene encoding for the protein progranulin (PGRN), GRN, are one of the major genetic abnormalities involved in frontotemporal lobar degeneration.
4,549
[ 30862089, 33433870, 32507413, 33433878, 33636385, 26652843, 34433069, 31626287, 31962288, 24709683, 33028409, 24503614, 29744576, 32929860, 22277331, 29053785, 23383391, 31864418, 31291241, 20946666, 28778989, 28828399 ]
Which growth factors are known to be involved in the induction of EMT?
EMT is characterized by acquisition of cell motility, modifications of cell morphology, and cell dissociation correlating with the loss of desmosomes from the cellular cortex. A number of growth factors have been shown to be involved in this process. These include fibroblast growth factors (FGFs), TGF-β1, TGF-β2, TNF-α, CCN family, Sonic Hedgehog (SHh), Notch1, GF-β, Wnt, EGF, bFGF, IGF-I and IGF-II.
769
[ 24045665, 21680037, 18792103, 20531305, 7593195, 11526479, 16365168, 11790801, 16868306, 22627188, 17720949, 22547830, 23027863, 23810808, 15121845, 23437179, 20075196 ]
Is the Histidine-Rich Calcium Binding protein (HRC) related to arrhythmias and cardiac disease?
Histidine-rich calcium binding protein (HRC) is a high capacity, low affinity Ca(2+) binding protein with a potential role in heart failure and arrhythmogenesis due to its activity as regulator of SR Ca(2+) uptake and Ca(2+) release.In addition, HRC null mice displayed a significantly exaggerated response to the induction of cardiac hypertrophy by isoproterenol compared to their wild-type littermates. A human genetic variant (Ser96Ala) in HRC has been linked to ventricular arrhythmia and sudden death in dilated cardiomyopathy.
1,623
[ 24125847, 17030629, 22040806, 18617481, 15191886, 22952658, 21742996, 20807542, 19403607 ]
Does HuR bind to the untranslated regions (UTRs) of mRNAs?
Yes, the RNA-binding protein HuR binds at 3' untranslated regions (UTRs) of target transcripts, thereby protecting them against degradation.
1,985
[ 27941336, 23312841, 24687854, 25841336, 23389914, 25265983 ]
What is the minimal genome build?
The identification of the essential genes of bacteria and the minimal genome for the free-living cellular life could provide insights into the origin, evolution, and essence of life forms. The field of Synthetic Biology seeks to apply engineering principles to biology in order to produce novel biological systems. One approach to accomplish this goal is the genome-driven cell engineering approach, which searches for functioning minimal genomes in naturally occurring microorganisms, which can then be used as a template for future systems. Currently a prototypical minimal genome has not been discovered.
1,101
[ 21987714, 23420643, 23873957, 26539175, 22916492, 23219343, 21203957 ]
Can ATAC-Seq be employed in single-cell mode?
Single-cell ATAC-seq detects open chromatin in individual cells.
3,849
[ 30335168, 28138849, 30559361, 30936163, 30580963, 32029221, 31594952, 32620137, 32029740, 26083756, 32637041, 30451828, 31428792, 29686426, 26294014 ]
What is Neisseria adhesin A?
Neisseria adhesin A (NadA) is one of the antigens of Bexsero, the recently licensed multicomponent vaccine against serogroup B Neisseria meningitidis (MenB). NadA belongs to the class of oligomeric coiled-coil adhesins and is able to mediate adhesion and invasion of human epithelial cells. As a vaccine antigen, NadA has been shown to induce high levels of bactericidal antibodies. More than 89 distinct NadA allele sequences and 43 distinct peptides have been described.
1,784
[ 22426368, 23803905, 25347845, 24807056, 19428890, 26950303, 25404323, 19290916, 21949862, 19401383, 27105075, 27452726, 23717687, 26204985, 18299457, 25630407, 19356620, 20041170, 26304221, 26232542, 21471204, 23409129, 24779381 ]
Do mutations in KCNT2 only cause phenotypes with epilepsy?
No. There is a report of pathogenic variants in KCNT2 causing a developmental phenotype without epilepsy.
4,558
[ 34061450 ]
Is TIAM1 favoring tumor progression in colorectal cancer (CRC)?
No. In colorectal cancer (CRC) TIAM1 suppresses tumor progression by regulating YAP/TAZ activity.
2,851
[ 28416184, 17132223 ]
What is targeted by Pexidartinib?
Pexidartinib is a selective tyrosine kinase inhibitor against CSF1R.
3,800
[ 31602563, 28536100, 30926949, 31258629, 31848580, 32617868, 31862477, 30825104, 31240240, 32440095, 32306101, 31229240, 30002809, 32297819, 31213500, 32943455 ]
Which pipelines are used for analyzing data from ChIP-nexus experiments?
PeakXus and Q-nexus enable comprehensive transcription factor binding site discovery from ChIP-nexus experiments.
1,832
[ 27587683, 27814676 ]
What enzyme is inhibied by Opicapone?
Opicapone is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease
111
[ 24925090, 23248072, 24148813, 23336248, 24271646 ]
Which are the methods for in silico prediction of the origin of replication (ori) among bacteria?
Several in silico methods have been applied for prediction of the origin of replication (ori). DNA base composition asymmetry, such as GC skew, is the basis of numerous in silico methods used to detect the ori in prokaryotes. The Z curve analysis is also used for ori identification. Comparative genomics, by BLAST analyses of the intergenic sequences compared to related species have been applied in ori prediction. The finding of the dnaA gene and its binding sites, DnaA boxes, as well as the finding of the binding sites of other proteins, such as CtrA and IHF, are fundamental characteristics used for in silico prediction of the ori. Also, the localization of boundary genes, such as cell division cycle (cdc6) gene, and consensus origin recognition box (ORB) sequences have been employed for ori detection. The study of the gene order around the origin sequence and the distribution of the genes encoded in the leading versus the lagging strand are also used for in silico detection of the ori.
1,624
[ 21364800, 23093601, 18237442, 12732098, 14643658, 24822028, 17188685, 17584494, 12218031, 21945744, 25309521, 19332823, 24808892, 18582175 ]
What is cebocephaly
Cebocephaly is a developmental anomaly of the head characterized by a small head, with a defective small, flattened nose with a single nostril or absent nose and closely set eyes.
2,411
[ 16061113, 19673365, 23599105, 2255999 ]
Which mitochondrial genes are regulated by thyroid hormone?
subunit 6 of ATP synthase, ATPase-6, mitochondrial II and III subunits of cytochrome-c oxidase, NADH dehydrogenase subunit 3
1,697
[ 1331777, 12225634, 7763274 ]
Is Eflornithine and Sulindac are effective for prevention of progression in Familial Adenomatous Polyposis?
No. In a clinical trial, the incidence of progression in Familial Adenomatous Polyposis was not significantly lower with the combination of eflornithine and sulindac than with either drug alone.
3,865
[ 32905675 ]
What is AZD8601?
AZD8601 is a modified mRNA encoding vascular endothelial growth factor A (VEGF-A). Sequential dosing of AZD8601 improves vascularization and tissue oxygenation of the wound bed, leading to accelerated re-epithelialization during the early phase of diabetic wound healing.
4,087
[ 30504800 ]
Is treatment with Bacillus Calmette Guerin used for bladder cancer?
Intravesical Bacillus Calmette-Guerin (BCG) is the best treatment modality for progression of non-muscle invasive bladder cancer.
3,080
[ 19918272, 6381762, 29362915, 17945285, 11989131, 2231917, 29673806, 2359181, 16813873, 3892050, 3892051, 1732628, 21541499, 28916862, 6757467, 19758621, 12031870, 17997439 ]
What is PEGylation?
Attachment of a chain of poly(ethylene glycol) (PEG) to a therapeutic protein, a process widely known as PEGylation, can lead to several beneficial effects. It has the potential to significantly delay aggregation of the protein by steric shielding, a frequently encountered issue in the development of protein drugs. Moreover, it can modify the pharmacokinetic profile of the PEGylated protein by delaying renal excretion, leading to a longer half-life (t1/2) of the drug. By steric hindrance, it can also inhibit interactions between the protein drug and proteases as well as the host immune system, thereby inhibiting inactivation of the PEGylated protein and also attenuating its immunogenicity.
2,923
[ 26523632 ]
What is the incidence of Edwards syndrom in the european population?
Between 0.125 and 39 in every 1000 live births. Most probably 1:5000 of live-born.
320
[ 18067809, 18156713, 21786507, 20584846, 18467377, 19911411, 8248469, 19408854, 23421080, 23116348 ]
What kind of analyses are performed with the software tool "unipept"
The Unipept web application (http://unipept.ugent.be) supports biodiversity analysis of large and complex metaproteome samples using tryptic peptide information obtained from shotgun MS/MS experiments. The application designed for metaproteomics analysis with a focus on interactive datavisualization.
1,906
[ 26819472, 27380722, 26058579, 25477242, 23153116 ]
Which maternal CYP2D6 related phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding?
Mothers with a CYP2D6 ultrarapid metabolizer phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding, by producing more of the active metabolite, morphine.
4,288
[ 28696420 ]
Which bacterium has the smallest genome in base pairs yet found?
Our results reveal that Nasuia-ALF has the smallest bacterial genome yet sequenced (112 kb), and that the Sulcia-ALF genome (190 kb) is smaller than that of Sulcia in other insect lineages. Both regions exhibit a significant reduction in length and gene number in B. aphidicola BCc, as it could be expected since it possess the smallest bacterial genome. We sequenced genomes of the obligate symbionts, Sulcia muelleri and Nasuia deltocephalinicola, of the phloem-feeding pest insect, Macrosteles quadrilineatus (Auchenorrhyncha: Cicadellidae).
2,152
[ 23918810 ]
Which drug should be used as an antidote in benzodiazepine overdose?
Flumazenil should be used in all patients presenting with suspected benzodiazepine overdose. Flumazenil is a potent benzodiazepine receptor antagonist that competitively blocks the central effects of benzodiazepines and reverses behavioral, neurologic, and electrophysiologic effects of benzodiazepine overdose. Clinical efficacy and safety of flumazenil in treatment of benzodiazepine overdose has been confirmed in a number of rigorous clinical trials. In addition, flumazenil is also useful to to reverse benzodiazepine induced sedation and to and to diagnose benzodiazepine overdose.
1,301
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