Datasets:

rag-datasets

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rag-mini-bioasq

like 14

Is alternative splicing of apoptotic genes playing a role in the response to DNA or mitochondrial damage?

Yes, alternative splicing seem to play a key role in the response to DNA or mitocondrial damage as suggested by the number of apoptotic genes that are alternatively spliced, with often antagonistic roles of the isoforms generated.

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Which oncogenes are able to induce cellular senescence?

Cellular senescence can be induced through activation or inactivation of a number of oncogenes, such as Ras, c-Abl, Raf, Myc, Skp2, BRAF, AKT, HDAC2, p38 MAPK, Caveolin-1 and Mek1.

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What is HbVar?

HbVar (http://globin.cse.psu.edu) is a relational database of hemoglobin variants and thalassemia mutations. Extensive information is recorded for each variant and mutation, including a description of the variant and associated pathology, hematology, electrophoretic mobility, methods of isolation, stability information, ethnic occurrence, structure studies, functional studies, and references. The initial information was derived from books by Dr. Titus Huisman and colleagues [Huisman et al., 1996, 1997, 1998]. The current database is updated regularly with the addition of new data and corrections to previous data. Queries can be formulated based on fields in the database. Tables of common categories of variants, such as all those involving the alpha1-globin gene (HBA1) or all those that result in high oxygen affinity, are maintained by automated queries on the database. Users can formulate more precise queries, such as identifying "all beta-globin variants associated with instability and found in Scottish populations." This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci.

[14681476, 17221864, 21932936, 11857738, 24137000]

Can DMSO as an additive improve proteomic analysis results?

Quantitative precisions improved significantly when DMSO (dimethylsulfoxide) was added to the matrix solution. Introducing to the 80% formic acid injection solution an organic solvent such as acetonitrile or acetonitrile-DMSO induced further retention selectivity, and increasing levels of organic solvents reduced on-column retention. Low percentages of dimethylsulfoxide (DMSO) in liquid chromatography solvents lead to a strong enhancement of electrospray ionization of peptides, improving the sensitivity of protein identification in bottom-up proteomics by up to tenfold.

[18926777, 18393531, 23975139]

The antibodies MK-3475 and CT-011 have shown promising results in treating malignancies. Which protein are they targeting?

Modulation of the immune system by targeting coinhibitory and costimulatory receptors has become a promising new approach of immunotherapy for cancer. OBJECTIVE: CT-011 is a humanized IgG1 monoclonal antibody that modulates the immune response through interaction with PD-1, a protein belonging to the B7 receptor family present on lymphocytes. The objectives of this phase I study were to assess the dose-limiting toxicities, to determine the maximum tolerated dose, and to study the pharmacokinetics of CT-011 administered once to patients with advanced hematologic malignancies. We have developed a cancer vaccine in which autologous tumor is fused with dendritic cells resulting in the presentation of tumor antigens in the context of DC-mediated costimulation. The median t1/2 of CT-011 ranged from 217 to 410 hours. The PD1/PDL1 pathway is an important element contributing to tumor-mediated immune suppression. The recent approval of the CTLA-4-blocking antibody ipilimumab for the treatment of melanoma was a watershed event, opening up a new era in the field of immunotherapy. T-cell expression of programmed death receptor-1 down-regulates the immune response against malignancy by interacting with cognate ligands ( eg, PD-L1 ) on tumor cells; however, little is known regarding PD-1 and natural killer ( NK ) cells.

[18483370, 21710477, 23263823, 23460532, 20460501, 21577144]

Which are the different proteins/isoforms encoded but the ASPH (aspartate beta-hydroxylase) gene in humans?

Alternative splicing of the locus AbetaH-J-J (asparetyl-beta-hydroxylase) generates three functionally distinct proteins: an enzyme, AbetaH (aspartyl-beta-hydroxylase), a structural protein of the sarcoplasmic reticulum membrane (junctin), and an integral membrane calcium binding protein (junctate). Aspartyl (asparaginyl)-beta-hydroxylase (AAH), has also two related transcripts, Humbug and Junctin, which lack catalytic domains. The smallest BAH-related transcript (2,789 base pairs) uses an alternative 3' terminal exon, resulting in a protein lacking a catalytic domain. Evolutionary conservation of this noncatalytic isoform of BAH (humbug) is demonstrated in mouse, man, and Drosophila. A human junctin isoform (isoform 1, 225 aa) was also identified and characterized. The isoform 1 has a 15 aa insertion at the amino acid residue 55 of the human junctin.

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List processes which are under the control of the YAP protein.

Yes-associated protein (YAP), a transcription coactivator, is the major downstream effector of the Hippo pathway, which plays a critical role in organ size control, cell poliferation and cancer development and tissue homeostasis and differentiation.

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What family do mDia proteins belong in?

mDia proteins are members of the formin family.

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Is nucleosome eviction ATP-dependent?

Yes, nucleosome eviction and chromatin remodelling depends on ATP

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Is TREM2 associated with Alzheimer's disease in humans?

TREM2 variants have been found to be associated with early as well as with late onset Alzheimer's disease.

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Which is the most common measure of differences between dinucleotide relative abundance "genomic signatures"

The concept of a genomic signature was introduced with the observation of species-type specific Dinucleotide Relative Abundance Profiles (DRAPs). The set of dinucleotide odds ratios or 'general design' is a remarkably stable property of the DNA of an organism, and can be used to discriminate between sequences from different organisms. The average absolute dinucleotide relative abundance difference is termed delta-distance. Delta-distance is the most commonly used measure of differences bwetween "genomic signatures". Delta-distances between different genomic sequences in the same species are low, and are generally smaller than the between-species delta-distances.

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Name a method for enrichment of arginine-methylated peptides.

Immunoaffinity purification using specific antibodies has been used in order to perform enrichment of methylated peptides.

[24129315]

Why do we use "N-terminal proteomics"?

N-terminal proteomics allows the systematic identification of protease/peptidase cleavage events revealing substrate cleavage specificities.

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List omics technologies comprised in system biology.

System biology combines various omics technologies such as genomics, transcriptomics, proteomics, metabolomics, epigenomics, glucomics, degradomics and fluxomics.

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Rindopepimut is an analog of which growth factor?

Rindopepimut is an analog of EGFRvIII. It is being tested for treatment of glioblastoma multiforme

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Which gene mutations are responsible for isolated Non-compaction cardiomyopathy?

The gene mutations that have been shown to be the causes of isolated non-compaction cardiomyopathy are alpha-tropomyosin, alpha-tropomyosin, troponin T and desmoplakin

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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.

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Have mutations in the Polycomb group been found in human diseases?

Yes, different members of the Polycomb family have been found mutated in diseases such as primary microcephaly, nonsyndromic cleft lip and several cancers (including hemotopoietic malignancies, esophageal carcinoma, head and neck cancer or prostate cancer). Exact anser: Yes

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Describe the mechanism of action of drisapersen

Drisapersen is a 2'-O-methyl-phosphorothioate oligonucleotide designed to skip exon 51 in dystrophin pre-mRNA to restore the reading frame of the mRNA. It has potential for treatment of Duchenne muscular dystrophy.

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Is microRNA(miRNA) 29 involved in post-ischemic cardiac remodeling?

miRNA 29 is involved in post-ischemic myocardial remodeling in particular in the peri-infarctual zone. miRNA 29 produces apoptosis and enhances fibrotic response.

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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.

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Is exonuclease Xrn1 a component of the P-bodies?

In eukaryotic cells, XRN1 is often found in particles known as processing bodies (P bodies) together with other proteins involved in the 5' → 3' degradation pathway, such as DCP2 and the helicase DHH1 (Me31B). In yeast and human tissue culture cells, Xrn1 has been shown to be a component of P-bodies (processing bodies), dynamic cytoplasmic granules where RNA degradation can take place. Many P-body components including LSM1, GW182, DDX3, DDX6 and XRN1, but not others like DCP1a and EDC4 are recruited to the viral replication sites, as evidenced by their colocalization at perinuclear region with viral NS3.

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What is the substrate of the microbial enzyme inulinase?

The inulinase acts on the beta-(2,1)-D-fructoside links in inulin releasing D-fructose.

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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.

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List causative genes for autosomal recessive forms of monogenic Parkinson's disease

Causative genes for autosomal recessive forms of monogenic Parkinson's disease are: PARK2 PARK7 PINK1 PARK9 PARK14 PARK15

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How does ranolazine affect calcium handling in the heart

Ranolazine has only a small effect on the basal calcium current, while it greatly affects whole cell calcium current when facilitated by beta-adrenoceptor or histamine receptor activation. Ranolazine is a novel agent that inhibits the late sodium current thereby reducing cellular sodium and calcium overload. Ranolazine reduces Ca2+ overload and LV mechanical dysfunction during ischemia/reperfusion. ranolazine decreases I(Na,L)-induced dysregulation of calcium cycling that contributes to the antiarrhythmic actions of this agent. ranolazine desensitizes Ca(2+)-dependent RyR2 activation, and inhibits Ca(i) oscillations. ranolazine ameliorates the Ca(2+) response and cross-bridge kinetics of cardiac myofilaments.

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Which is the primary distinction between the Reverse Warburg effect and the conventional Warburg effect?

The conventional "Warburg effect" reffers to the metabolic shift of cancer cells towards aerobic glycolysis, due to mitochondrial dysfunction. The "reverse Warburg effect" or "parasitic" energy-transfer, is a model of "two-compartment tumor metabolism". In this model, cancer cells secrete hydrogen peroxide (H2O2), initiating oxidative stress and aerobic glycolysis in the tumor stroma. The cancer-associated fibroblasts of the stroma are glycolytic and lack detectable mitochondria. These glycolytic stromal cells produce mitochondrial fuels (L-lactate, ketone bodies and chemical building blocks, such as amino acids -glutamine-, and nucleotides) that are then transferred to oxidative epithelial cancer cells. Lactate and ketones drive cancer cell oxidative mitochondrial metabolism (OXPHOS), and building blocks sustain the anabolic needs of rapidly proliferating cancer cells. Therefore, according to the "reverse Warburg effect", stromal catabolism fuels anabolic tumor growth via energy transfer. Thus, in "reverse Warburg effect" the cancer-associated fibroblasts of the stroma undergo aerobic glycolysis, rather than epithelial cancer cells themselves, as proposed by the conventional "Warburg effect".

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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.

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Can sorafenib activate AMPK?

Sorafenib induces persisten AMPK activation

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What tyrosine kinase, involved in a Philadelphia- chromosome positive chronic myelogenous leukemia, is the target of Imatinib (Gleevec)?

The fusion protein BCR-ABL

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When was empagliflozin FDA approved?

Empagliflozin was approved in 2014 by the European Commission and the United States Food and Drug Administration for the treatment of type 2 diabetes mellitus (T2DM).

[25712444]

Which R/bioconductor package is used for integrative genomics visualizations?

Sushi.R is a flexible, quantitative and integrative genomic visualizations for publication-quality multi-panel figures using common genomic data formats including Browser Extensible Data (BED), bedGraph and Browser Extensible Data Paired-End (BEDPE). Sushi.R is open source and made publicly available through GitHub (https://github.com/dphansti/Sushi) and Bioconductor (http://bioconductor.org/packages/release/bioc/html/Sushi.html).

[24903420]

List symptoms of congenital toxoplasmosis triad.

Classic triad of toxoplasmosis include hydrocephalus, cerebral calcification and chorioretinitis.

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How many genes are imprinted in the human genome?

Among approximately 70 known imprinted genes are some causing disorders affecting growth, metabolism and cancer predisposition.

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Is exome sequencing efficient for the detection of germline mutations?

Exome sequencing is an efficient, sensitive, rapid and relatively cheap method for detection of germline mutations.

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Which cellular processes are regulated by Nanog?

The pluripotency sustaining factor Nanog, controls a cascade of pathways that are intricately connected to govern pluripotency, self-renewal, genome surveillance and cell fate determination. Elevated expression of Nanog has also been reported to result in clonal expansion of murine ESCs, but it also plays a role in tumor development. A positive regulator of cell proliferation, it is essential for G1 to S transition in human embryonic stem cells while it regulates primordial germ cell migration.

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In which cells are A-type lamins expressed?

In the rat brain, lamin A and C are expressed in relatively equal amounts, while the expressions of lamin B1 and B2 vary depending on the cell type. Human cells with reduced expression of the major B-type lamin protein, lamin B1, were generated using RNA interference. In addition, horizontal cells and a subpopulation of retinal ganglion cells expressed lamin A and C, while photoreceptor cells expressed neither lamin A nor C, and all other retinal neurons expressed lamin C only. Parallel in vivo experiments showed that treatment with thioglycollate caused the percentage of lamin A/C-positive peritoneal macrophages to increase from 5 to 80% between Days 0 and 6.

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What is the definition of autophagy?

There are several definitions of autophagy. Among them, autophagy can be defined as a non- apoptotic programmed cell death that consists on a catabolic trafficking pathway for bulk destruction and turnover of long-lived proteins and organelles via regulated lysosomal degradation.

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Gene silencing can be achieved by RNA interference (RNAi) in eukaryotic organisms. What is the name of the analogous process in prokaryotic organisms?

Bacteria have developed several defense mechanisms against bacteriophages over evolutionary time, but the concept of prokaryotic RNA interference mediated defense mechanism against phages and other invading genetic elements has emerged only recently. Clustered regularly interspaced short palindromic repeats (CRISPR) together with closely associated genes (cas genes) constitute the CASS system that is believed to provide a RNAi-like defense mechanism against bacteriophages within the host bacterium.

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Between which types of DNA bases are mutational biases introduced due to directional mutation pressure?

The rates of substitution mutations in two directions, v (from an AT-pair to a GC-pair) and u (from a GC-pair to an AT-pair), are usually not the same. Thereafter, the effect of mutation on a genome is not random but has a directionality toward higher or lower GC content of DNA. The net effect, v/(u + v), has previously been defined as directional mutation pressure. Thus, directional mutation pressure (GC/AT pressure) refers to mutational biases between alpha-bases (A or T) and gamma-bases (G or C).

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Is it feasible to determine the complete proteome of yeast?

Yes, since the complete genome of yeast is known.

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Which mutations of alpha-myosin heavy chain gene are implicated in hypertrophic cardiomyopathy?

The following mutations of alpha-myosin heavy chain gene are implicated in hypertrophic cardiomyopathy: R403Q; Q1065H and Arg-249-->Gln

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Which are the cardiac manifestations of Marfan syndrome?

Cardiac manifestations of Marfan syndrome include aortic root dilation,aortic regurgitation, mitral valve prolapse and mitral valve regurgitation.

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How is connected "isolated Non-compaction cardiomyopathy" with dilated cardiomyopathy?

Mutations in cardiac beta-myosin heavy chain and alpha-tropomyosin link isolated Non-compaction cardiomyopathy with dilated cardiomyopathy

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What is the role of AMPK in diabetic cardiomyopathy?

AMPK activation protects cardiac structure and function by increasing cardiac autophagy in the diabetic heart. Decreased AMPK activity and the subsequent reduction in cardiac autophagy are central to the development of diabetic cardiomyopathy. In fact, dissociation of Bcl-2 from Beclin1 may be an important mechanism for preventing diabetic cardiomyopathy via AMPK activation that restores autophagy and protects against cardiac apoptosis. In addition, genetic inhibition of AMPK in cardiomyocytes attenuates cardiac autophagy, exacerbates cardiac dysfunction and increases mortality in diabetic mice. The modulation of AT-1R/AMPK-MAPK pathway might play crucial roles for the pathogenesis of diabetic cardiomyopathy and it could become an important therapeutic target to ameliorate the diabetic cardiomyopathy. Stimulation of AMPK by metformin or trimetazidine administration may represent a novel approach to treat diabetic cardiomyopathy.

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Are circRNAs associated with diseases and traits?

Yes. Circular RNAs (circRNAs) play a crucial role in fine tuning the level of miRNA mediated regulation of gene expression by sequestering the miRNAs. Their interaction with disease associated miRNAs indicates that circular RNAs are important for disease regulation.

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Which is the most common cause of sudden cardiac death in young athletes?

the most common cause of sudden cardiac death in young athletes is hypertrophic cardiomyopathy

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Could the Menzerath-Altmann law be proved mathematically trivial in genomes?

Yes. The view of Menzerath-Altmann law in genomes, as inevitable, is seriously flawed.

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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%.

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What is the oldest human sample analysed by paleontology proteomics?

The Tyrolean Iceman's brain is the oldest (5300 years old) human sample that has been studied by paleoproteomics.

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What are the results of loss of the protein Lon1 in the plant Arabidopsis?

Loss of Lon1 in Arabidopsis changes the mitochondrial proteome leading to altered metabolite profiles and growth retardation. Additionaly, seedling establishment is also impaired.

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Which gene is involved in Giant Axonal Neuropathy?

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin

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Are there studies representing the involvement of Notch mutations in neurodegenerative diseases such as Down syndrome, Pick's and Prion's disease, and cadasil syndrome?

The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie human disease such as Down syndrome, Pick's and Prion's disease, and cadasil syndrome.

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Are there any functional differences between Mfd and its human Cocaine syndrome protein B (CSB) homolog?

Both Cockayne syndrome protein B (CSB) and Mfd are involved in transcription-coupled repair. CSB is the human TCR coupling factor and Mfd is the bacterial TCR coupling factor. However, unlike Mfd, CSB does not act as a helicase nor does it dissociate stalled RNA polymerase II, suggesting a coupling mechanism in humans different from that in prokaryotes. Moreover, Mfd may be functionally distinct from its human CSB homolog in that it does not detectably contribute to the recovery of gene expression or global repair following oxidative damage.

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What is membrane scission?

Membrane scission is the final step in order to complete the budding process, pinching off of the vesicle. To promote membrane scission, dynamin proteins polymerize, wrap around, and constrict the membrane. The scission of biological membranes is facilitated by a variety of protein complexes that bind and manipulate lipid bilayers.

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How many TAp73 isoforms have been identified in humans?

The TP73 gene, due to the presence of two promoters (P1 and P2) in its 5' flanking region, encodes a fully transcriptionally active domain (TAp73) and the amino terminus deleted (ΔNp73). TAp73 possesses pro-apoptotic properties, while deltaNp73 has anti-apoptotic functions. Alternative 3'-end splicing results in generation of at least seven TAp73 distinctive isoforms ( α, β, γ, etc ).

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Is the yeast Μac1 transcription factor induced upon copper deficiency?

In Saccharomyces cerevisiae, transcriptional responses to copper deficiency are mediated by the copper-responsive transcription factor Mac1. Ace1 mediates copper-induced gene expression in cells exposed to stressful levels of copper salts, whereas Mac1 activates a subset of genes under copper-deficient conditions.

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What is the mechanism of DNA replication termination in vertebrates?

Eukaryotic DNA replication terminates when replisomes from adjacent replication origins converge. Termination involves local completion of DNA synthesis, decatenation of daughter molecules and replisome disassembly. DNA synthesis does not slow detectably as forks approach each other, and leading strands pass each other unhindered before undergoing ligation to downstream lagging strands. Dissociation of the replicative CMG helicase (comprising CDC45, MCM2-7 and GINS) occurs only after the final ligation step, and is not required for completion of DNA synthesis, strongly suggesting that converging CMGs pass one another and dissociate from double-stranded DNA. This termination mechanism allows rapid completion of DNA synthesis while avoiding premature replisome disassembly.

[26322582]

Which are the different members/isoforms of the Ras oncogenes?

Ras proteins are proto-oncogenes that are frequently mutated in human cancers. Three closely related isoforms, HRAS, KRAS and NRAS, are expressed in all cells and have overlapping but distinctive functions.

[21779492, 22648805, 23412389, 21779495, 24247240, 24194124, 22981836, 17671181, 23103856, 21924373, 22589270, 23871832, 23496764]

Which is the subcellular localization of ERAP2?

Endoplasmic reticulum aminopeptidase 2 (ERAP2) is localized to the luminal side of the endoplasmic reticulum.

[23946506, 23988446, 16054015]

Have thyronamines effects on fat tissue?

There is not clear evidence that thyronamines have direct effect on adipose tissue

[19273499, 20880963, 17579492, 20005733, 17204552, 21664427, 18486124, 22016721, 19116337, 17912534, 21490071, 6094171]

What are the names of anti-CD52 monoclonal antibody that is used for treatment of multiple sclerosis patients?

Alemtuzumab and Campath-1H are the names of anti-CD52 monoclonal antibody that is used for treatment of multiple sclerosis patients. It has been shown to be effective for treatment naive and treatment resistant multiple sclerosis patients.

[22056965, 20236038, 18075272, 21550857, 24198283, 18283404, 24289293, 21899662, 18946064, 7914262, 23448220, 23709214, 24116901, 17920549, 8624684, 22252465, 20088763, 15049789, 19296065, 23494602, 22229582, 10482259, 23759318, 23122650, 23122652, 19740383, 23634277, 19878629, 23558379, 18713579, 23459567, 24170099, 16231285, 10568572]

Is there a package in R/bioconductor for classification of alternative splicing?

Yes. SpliceR is an R package for classification of alternative splicing and prediction of coding potential from RNA-seq data.

[24655717]

Which brain structures have been investigated as potential targets for deep brain stimulation of patients suffering from major depression?

Subgenual cingulate gyrus, the anterior limb of the capsula interna, nucleus accumbens, medial forebrain bundle, habenula, and caudate nucleus have been investigated as potential targeted for the deep brain stimulation of patients suffering from major depression.

[24112897, 21736514, 23230531, 17498883, 22473055, 19092783, 18704495, 19137233, 19284243, 16816792, 19727257, 15481726, 17429407]

Is alemtuzumab effective for remission induction in patients diagnosed with T-cell prolymphocytic leukemia?

Yes, alemtuzumab (anti-CD52, Campath-1H) is effective for remission induction in patients diagnosed with T-cell prolymphocytic leukemia. Alemtuzumab can be administered in combination with other chemotherapeutic agents or as mono-therapy. Response rate to alemtuzumab is more than 90%. Alemtuzumab therapy is associated with improved survival of T-cell prolymphocytic leukemia patients.

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What is the association between moon cycle and rupture risk of intracranial aneurysms?

It has been reported that moon phases correlate with the incidence of aneurysmal subarachnoid hemorrhage due to ruptured intracranial aneurysms. However, other authors have found no correlation between incidence of aneurysmal SAH, location of the aneurysm, initial clinical presentation, or amount of subarachnoid blood and the lunar cycle.

[18353534, 19101078, 23702791]

Is there an association between TERT promoter mutation and survival of glioblastoma patients?

Telomerase reverse transcriptase (TERT) promoter are associated with shorter survival of glioblastoma patients. Prognostic value of TERT mutations for poor survival is largely due to their inverse correlation with IDH1 mutations.

[24937153, 23955565, 23393205]

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.

[23861639, 22339463, 24489866, 23085451, 20154508, 22305802, 23894286, 22506132, 20497044, 24216217, 23874844, 19585948, 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]

Which deiodinase polymorphisms are implicated in arterial hypertension?

Two deiodinase polymorphisms are implicated in arterial hypertension: Ala92 type 2 deiodinase allele and rs7140952 polymorphism of DIO2

[21415143, 23329579, 19178511, 18198294, 19014646, 17224473]

At which kind of individuals is pharmacological treatment of subclinical hypothyroidism effective in reducing cardiovascular events?

Treatment of subclinical hypothyroidism is associated with fewer cardiovascular events in younger individuals, but this issue has not been resolved yet in elderly people.

[17544610, 23559085, 19114542, 17636722, 19463607, 16026106, 22529180, 16542047]

Is intense physical activity associated with longevity?

YES:

[22587716, 7707624, 21618162, 23449779, 2279154, 10670554]

How homoplasy affects phylogenetic reconstruction?

Evolutionary processes create both newly derived characteristics shared by related descendant lineages (homology) and "false" similarities which confound phylogenetic reconstruction (homoplasy). Homology arises by divergent evolution from a common ancestor and provides us with a phylogenetic signal, while homoplasy arises by convergent evolution or random coincidence. Homoplastic characters do not allows branch points and clade membership to be accurately estimated, as they may group unrelated taxa together. Such characters add "noise" in phylogenetic analysis and are not informative for the population genetics and the phylogenetic reconstruction of closely related taxa. In phylogenetic reconstruction, homoplasy leads to inaccurate conclusions about phylogenetic relationships among operational taxonomic units, and characters with high degree of homoplasy result in incongruences of cladistic relationships.

[22192390, 20525577, 22354957, 15062799, 21619604, 24932884, 11534998, 11098408, 23906600, 22431149, 18787123, 9664695, 22491068, 10605118, 22228800, 12116430, 14530127, 18577231, 16414286, 15805007, 22728915, 8042708, 15347815, 23378793, 23199982, 2682738]

What is known about the association between the use of selective serotonin reuptake inhibitors during pregnancy and risk for autism in offspring?

Greater risk for autism spectrum disorders has been reported among mothers that have used selective serotonin reuptake inhibitors during pregnancy. However, others did not find an association between the use of selective serotonin reuptake inhibitors during pregnancy and risk for autism in offspring. Also, selective serotonin reuptake inhibitor use during pregnancy were associated with a greater number of gastrointestinal complaints in children with autism spectrum disorders.

[22090498, 23681158, 23495208, 21727247, 23042258, 23604083, 20018455, 24065914]

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.

[17615296, 22406531, 22562246, 22266854, 19581928, 22833386, 24297167, 15674322, 22727060, 19295128, 18286686, 20735391]

Is desmin an intermediate filament protein involved in Dilated Cardiomyopathy (DCM)?

According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM). Mice deficient in desmin, the muscle-specific member of the intermediate filament gene family, display defects in all muscle types and particularly in the myocardium. Desmin null hearts develop cardiomyocyte hypertrophy and dilated cardiomyopathy (DCM) characterized by extensive myocyte cell death, calcific fibrosis and multiple ultrastructural defects. Desmin defects were also recently identified in 1 familial dilated cardiomyopathy.

[16890305, 10974018, 11374497, 10904833, 12025381, 14734054, 21525025, 15572040, 11515275, 15699919, 24091796, 7774871, 17325244, 15475165]

Is lambrolizumab effective for treatment of patients with melanoma ?

Lambrolizumab, a programmed death-1 receptor (PD-1)/its ligand (PD-L1) antibody, has been shown to be effective for treatment of patients with melanoma. High rate of sustained tumor regression with mainly minimal adverse effects in melanoma patients treated with lambrolizumab has been reported. Because of all these reasons PD-1/PD-L1 antibodies are considered 'drug of the year.

[24089441, 24348481, 23997828, 23970885, 24416617, 23724846, 24516336, 23907003, 23847357, 24499550]

List human diseases involving genomic imprinting.

Prader Willi Syndrome Angelman syndrome Beckwith-Wiedemann syndrome Hydatidiform mole Cancer Silver-Russell syndrome Diabetes

[11568896, 16035043, 7868070, 15802919, 15945483, 12524013, 8565331, 22960339, 12444886, 20822494]

Why are insulators necessary in gene therapy vectors?

a) They inhibit oncogene activation upon vector integration and b) They maximize the probability of vector expression upon integration in heterochromatinic regions

[21562592, 21475904, 19352322, 12200360, 19536296, 21247248, 15638709, 19746166, 24312663, 24098520, 14683449, 23786330, 9368350, 21205311]

Which deficiency is the cause of restless leg syndrome?

It has been well-documented that iron deficiency is the cause of restless leg syndrome. Magnesium and ferritin were also associated with restless leg syndrome.

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What histone modification is recognized by the bromodomain?

Acetylated lysines in histones (generally H3 and H4)

[15143168, 23095041, 16265664, 21189220, 21596426, 10746732, 15014446, 21271695, 15970672, 21851057, 17049045, 10716917, 15382140]

What memory problems are reported in the " Gulf war syndrome"?

Loss of memory and dysmnesia are memory problems reported in the " Gulf war syndrome". Patients suffering from this syndrome often have other nonspecific symptoms such as fatigue, skin rash, headache, muscle and joint pain and sexual dysfunction.

[11600803, 15251045, 14590665, 12446953, 14515407, 11478226, 21930452, 9005271, 9096828]

Is cadasil syndrome a hereditary disease?

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease, clinically characterized by migraine, recurrent transient ischemic attacks or strokes, psychiatric disorders and cognitive decline. Strokes are typically ischemic, while hemorrhagic events have been only sporadically described. CADASIL is the most common form of hereditary cerebral angiopathy.

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Which neuroendocrine tumors are associated with specific tumor syndromes?

Neuroendocrine tumors are a heterogeneous group of benign and malignant neoplasias, detectable in the context of hereditary tumor syndromes in up to 30% of cases. Neuroendocrine tumors include medullary thyroid carcinoma, gastroenteropancreatic tumors, pheochromocytoma, and paraganglioma.

[21181474, 14685672, 23010473, 22041710, 19708762]

How many periods of regulatory innovation led to the evolution of vertebrates?

Investigators proposed that there have been three extended periods in the evolution of gene regulatory elements. Early vertebrate evolution was characterized by regulatory gains near transcription factors and developmental genes, but this trend was replaced by innovations near extracellular signaling genes, and then innovations near posttranslational protein modifiers.

[21852499]

Is nintedanib effective for Idiopathic Pulmonary Fibrosis?

Yes, nintedanib is approved for Idiopathic Pulmonary Fibrosis treatment. Nintedanib was shown to slow the decline in lung function, decrease acute exacerbations, decrease the annual rate of decline in forced vital capacity and increase time to acute exacerbation.

[26039104, 24556663, 25635490, 23818761, 26346347, 25439569, 26380465, 24782550, 25628503, 26261848, 24836310, 24834811, 25430078, 25767391]

What is the role of SERCA in diabetic cardiomyopathy?

Diabetic cardiomyopathy is accompanied by reduced SERCA levels and activity in later stages. The up-regulation of SERCA2a in the early phase of type 2 diabetes is an important physiological adaptation of the heart.

[22621761, 21441944, 12206992, 22137362, 19882101, 20008278, 18492789, 16810072, 12217882, 18570267, 17716638, 22590623]

Is pesticide exposure associated with polyneuropathy?

Yes, it is associated with peripheral neuropathy.

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What is the methodological principle of ChIA-PET?

Chromatin interaction analysis with paired-end tag sequencing (ChIA-PET) is a new technology to study genome-wide long-range chromatin interactions bound by protein factors. To minimize non-specific noise and reduce complexity, as well as to increase the specificity of the chromatin interaction analysis, chromatin immunoprecipitation (ChIP) is used against specific protein factors to enrich chromatin fragments of interest before proximity ligation. Combining Chromatin Immunoprecipitation (ChIP), proximity ligation and high-throughput sequencing, ChIA-PET provides a global and unbiased interrogation of higher-order chromatin structures associated with specific protein factors. Here, we propose a statistical model taking into account the genomic distance relationship, as well as the general propensity of anchors to be involved in contacts overall.

[25563301, 25114054, 20181287, 22564980, 22926262, 24051548]

Is there an association between borna virus and brain tumor?

There is no data to suggest an association between borna virus and brain tumor. Borna disease virus establishes a persistent infection in the central nervous system of vertebrate animal species as well as in tissue cultures causing cellular damage. Infected neural cells, include astrocytes, neurons, oligodendroglioma cell line. Borna disease virus replicates and can cause damage of brain cells.

[22848506, 8184547, 11070091, 11907227, 1731117, 10483922, 11507219, 17020949, 10518583, 21937656, 8917593, 15596826, 17306587, 10227422]

List medication interfering with purine metabolism that are used for treatment of T-cell prolymphocytic leukemia?

Deoxycoformycin and pentostatin are purine analogs that interfere with purine metabolism and are used for treatment of T-cell prolymphocytic leukemia patients.

[22538464, 15869731, 12447847, 18039954, 22483155, 8468724, 19915381, 23512246, 9215839, 18309944, 19275513, 15039804, 19778847]

Does PU.1 (SPI1) affect NF-kB binding?

Recent data demonstrate that developmental transcription factors like the macrophage fate-determining Pu.1 set the stage for the activity of ubiquitous transcription factors activated by inflammatory stimuli, like NF-kB, AP-1, and interferon regulatory factors (IRFs). Within 1217 bp of upstream sequence, 3 sites for NF-kB, 10 sites for NF-IL6, 15 sites for AP1, 6 sites for AP4, 2 sites for CHOP/CEBP alpha and 1 site for SP1 and PU.1 were identified.

[19966852, 10023076, 7678251, 21245163, 12020825, 8647196]

Does the majority of the mitochondrial genomes abide to the second parity rule (PR2)?

A large number of mitochondrial genomes significantly deviate from the 2nd parity rule, in contrast to the eubacterial ones. This behaviour of the large majority of the mitochondrial genomes may be attributed to their distinct mode of replication, which is fundamentally different from the one of the eubacteria.

[17562011, 11675596, 16893615]

What is the association between h-index and academic rank in academic neurosurgery?

Greater h-index is associated with greater academic rank in academic neurosurgery. The h indices increased significantly with increasing academic rank, with the median for instructors, assistant professors, associate professors, and professors was shown to be 2, 5, 10, and 19, respectively. In addition, h-index was shown to be predictive of NIH funding, fellowship training, academic productivity and salary.

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Is there an association between bruxism and reflux?

Yes, bruxism is associated with reflux. Sleep bruxism is prevalent in GERD patients.

[19089153, 22156738, 841409, 21248360, 23738993, 22926484, 14655925, 15520695, 24011800, 19830044]

What is known about the value of mindfulness interventions in prostate cancer patients?

In prostate cancer patients, mindfulness interventions were well accepted and were effective in reducing stress, anxiety, avoidance, fear of cancer recurrence, cortisol levels and blood pressure, and improving quality of life, sleep quality and immune system functioning. In addition, mindfulness interventions promoted initiation of healthy dietary changes and decreases the rate of PSA increase and may slow the rate of tumor progression in cases of biochemically recurrent prostate cancer.

[11696736, 12883107, 22853988, 14749092, 7776900, 21625914, 17521871, 16685074, 18400281, 22442202, 23442556]

What is known about prostate cancer screening in the UK ?

There is still no national screening programme established in the UK. Prostate cancer screening of asymptomatic men is not recommended by the National Screening Council at present and is not encouraged in the NHS. However, PSA tests are being performed for prostate cancer screening. The CAP and ProtecT trials are aimed to evaluate prostate cancer screening in the UK.

[16978272, 16720000, 10682690, 20507844, 12614245, 12587941, 21047592, 23728749, 22952783, 10185137, 15946386, 17309171, 19138385, 11002455, 19021912, 15049981]

Which hormone abnormalities are common in Williams syndrome ?

Thyroid hormone abnormalities are common in Williams syndrome. Oxytocin and vasopressin, cortisol, growth hormone and calcitonin were also implicated in the Williams syndrome.

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The secreted frizzled-related protein 3 (sFPR3) is altered in human cancers. Are its level found to increase or to decrease?

SFRPs are down-regulated in several cancers and this is often correlated with poor prognosis, as has been shown for breast, colorectal, and a number of other cancers. (PMID: 21494614) We performed tissue microarray and found that the level of sFRP3 protein was high in normal kidney, low in primary renal cancer tissues, and high in metastatic renal cancer tissues. (PMID: 20160027)

[11798016, 17420170, 17702698, 17079093, 21494614, 16266997, 23408665, 20160027]

Albumin depletion is a common first step for proteomic analysis of CSF fluid. What is the advantage and disadvantage of this procedure?

Depletion of the high abundant protein Albumin from CSF samples is improving the detection of lower abundant proteins but may also lead to the potential loss of non-target proteins.

[18288611, 15822917, 16335978, 19327347, 21906361, 15952730, 18412540, 23300121]

How are lincRNA affecting the regulation of gene expression?

lincRNA may function either as modulators of epigenetic mark deposition or as endogenous antagonists for microRNA binding. A lincRNA, linc-RoR, may function as a key competing endogenous RNA to link the network of miRNAs and core TFs, e.g., Oct4, Sox2, and Nanog. Mdig is involved in the regulation of H3K9me3 to influence the heterochromatin structure of the genome and the expression of genes important for cell growth or transformation. Observed biases in lincRNA genomic locations and expression profiles are consistent with some of these lincRNAs being involved in the regulation of neighboring protein-coding genes with developmental functions.

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