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RAG Datasets 11

Is Hirschsprung disease a mendelian or a multifactorial disorder?

Coding sequence mutations in RET, GDNF, EDNRB, EDN3, and SOX10 are involved in the development of Hirschsprung disease. The majority of these genes was shown to be related to Mendelian syndromic forms of Hirschsprung's disease, whereas the non-Mendelian inheritance of sporadic non-syndromic Hirschsprung disease proved to be complex; involvement of multiple loci was demonstrated in a multiplicative model.

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List signaling molecules (ligands) that interact with the receptor EGFR?

The 7 known EGFR ligands are: epidermal growth factor (EGF), betacellulin (BTC), epiregulin (EPR), heparin-binding EGF (HB-EGF), transforming growth factor-α [TGF-α], amphiregulin (AREG) and epigen (EPG).

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Is the protein Papilin secreted?

Yes, papilin is a secreted protein

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Are long non coding RNAs spliced?

Long non coding RNAs appear to be spliced through the same pathway as the mRNAs

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Is RANKL secreted from the cells?

Receptor activator of nuclear factor κB ligand (RANKL) is a cytokine predominantly secreted by osteoblasts.

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Does metformin interfere thyroxine absorption?

No. There are not reported data indicating that metformin reduce with thyroxine absorption.

[26191653]

Which miRNAs could be used as potential biomarkers for epithelial ovarian cancer?

miR-200a, miR-100, miR-141, miR-200b, miR-200c, miR-203, miR-510, miR-509-5p, miR-132, miR-26a, let-7b, miR-145, miR-182, miR-152, miR-148a, let-7a, let-7i, miR-21, miR-92 and miR-93 could be used as potential biomarkers for epithelial ovarian cancer.

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Which acetylcholinesterase inhibitors are used for treatment of myasthenia gravis?

Pyridostigmine and neostygmine are acetylcholinesterase inhibitors that are used as first-line therapy for symptomatic treatment of myasthenia gravis. Pyridostigmine is the most widely used acetylcholinesterase inhibitor. Extended release pyridotsygmine and novel acetylcholinesterase inhibitors inhibitors with oral antisense oligonucleotides are being studied.

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Has Denosumab (Prolia) been approved by FDA?

Yes, Denosumab was approved by the FDA in 2010.

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List the human genes encoding for the dishevelled proteins?

DVL-1 DVL-2 DVL-3

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Name synonym of Acrokeratosis paraneoplastica.

Acrokeratosis paraneoplastic (Bazex syndrome) is a rare, but distinctive paraneoplastic dermatosis characterized by erythematosquamous lesions located at the acral sites and is most commonly associated with carcinomas of the upper aerodigestive tract.

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Which are the classes of anti-arrhythmic drugs according to Vaughan-Williams classification?

Antiarrhythmic drugs can be divided into four Vaughan Williams classes (I-IV). Class I antiarrhythmic agents have as a common action, blockade of the sodium channels. Class II agents are antisympathetic drugs, particularly the beta-adrenoceptor blockers. Class-III antiarrhythmics have as a common action the potassium-channel blockade. Class IV antiarrhythmic drugs are calcium channel blockers.

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Which are the different isoforms of the mammalian Notch receptor?

Notch signaling is an evolutionarily conserved mechanism, used to regulate cell fate decisions. Four Notch receptors have been identified in man: Notch-1, Notch-2, Notch-3 and Notch-4.

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Which are the major characteristics of cellular senescence?

The defining characteristics of cellular senescence are altered morphology, arrested cell-cycle progression, development of aberrant gene expression with proinflammatory behavior, and telomere shortening.

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Orteronel was developed for treatment of which cancer?

Orteronel was developed for treatment of castration-resistant prostate cancer.

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Is the monoclonal antibody Trastuzumab (Herceptin) of potential use in the treatment of prostate cancer?

Although is still controversial, Trastuzumab (Herceptin) can be of potential use in the treatment of prostate cancer overexpressing HER2, either alone or in combination with other drugs.

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Which are the Yamanaka factors?

The Yamanaka factors are the OCT4, SOX2, MYC, and KLF4 transcription factors

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What is the aim of the Human Chromosome-centric Proteome Project (C-HPP)?

The chromosome-centric human proteome project aims to systematically map all human proteins, chromosome by chromosome, in a gene-centric manner through dedicated efforts from national and international teams

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Where is the protein Pannexin1 located?

The protein Pannexin1 is localized to the plasma membranes.

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Which currently known mitochondrial diseases have been attributed to POLG mutations?

Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia (arPEO), and 6) autosomal dominant Progressive External Ophthalmoplegia (adPEO).

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What is the effect of ivabradine in heart failure after myocardial infarction?

Ιvabradine decreases heart rate and reduces myocardial oxygen demand, increases diastolic perfusion time and improves energetics in ischemic myocardium. Ivabradine protects the myocardium during ischemia, improves left ventricular function in heart failure and reduces remodeling following myocardial infarction. It improves prognosis in patients with coronary artery disease, left ventricular dysfunction and heart rate ≥70 beats per minute, as well as in patients with heart failure and left ventricular dysfunction. The beneficial effects of ivabradine may be due to the reversal of electrophysiological cardiac remodelling in post-MI rats by reduction of functional overexpression of HCN channels. Furthermore, the improvement of cardiac function is related not only to the HR reduction per se but also to modifications in the extracellular matrix.

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What is the mode of inheritance of Wilson's disease?

Wilson's disease (WD) is an autosomal recessive disorder.

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Are transcription and splicing connected?

Yes. There is strong evidence that splicing and transcription are intimately coupled in metazoans, with genome wide surveys show that most splicing occurs during transcription. Chromatin structure, RNA polymerase dynamics, and recruitment of splicing factors through the transcriptional machinery are factors that explain a role for transcription in the regulation of splicing.

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What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?

Facioscapulohumeral muscular dystrophy has an autosomal dominant inheritance pattern.

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Is Alu hypomethylation associated with breast cancer?

Yes, Alu elements were found to be hypomethylated in breast cancer, especially in the HER2-enriched subtype. Furthermore, Alu hypomethylation was identified as a late event during breast cancer progression, and in invasive breast cancer, tended to be associated with negative estrogen receptor status and poor disease-free survival of the patients.

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Which proteins participate in the formation of the ryanodine receptor quaternary macromolecular complex?

Junctin is a major transmembrane protein in cardiac junctional sarcoplasmic reticulum, which forms a quaternary complex with the ryanodine receptor (Ca(2+) release channel), triadin, and calsequestrin.

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What kind of chromatography is HILIC?

Hydrophilic Interaction Chromatography (HILIC)

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What is the effect of TRH on myocardial contractility?

TRH improves myocardial contractility

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Proteomic analyses need prior knowledge of the organism complete genome. Is the complete genome of the bacteria of the genus Arthrobacter available?

Yes, the complete genome sequence of Arthrobacter (two strains) is deposited in GenBank.

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What is the structural fold of bromodomain proteins?

The structure fold of the bromodomains is an all-alpha-helical fold, which includes a left-handed four-helix bundle topology, with two short additional helices in a long connecting loop.

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List the endoscopic diagnoses that have been reported in children with autism

Endoscopic examinations in autistic children have been reported to show : I or II reflux esophagitis, Achalasia, chronic gastritis and chronic duodenitis, mild acute and chronic inflammation of the small bowel and colorectum and Ileo-colonic lymphoid nodular hyperplasia (LNH). The number of Paneth's cells in the duodenal crypts was found to be significantly elevated in autistic children compared with non-autistic control subjects. Low intestinal carbohydrate digestive enzyme activity was reported although there was no abnormality found in pancreatic function. Autistic children have ben reported to have an increased pancreatico-biliary fluid output after intravenous secretin administration.

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What are the outcomes of Renal sympathetic denervation?

Significant decreases and progressively higher reductions of systolic and diastolic blood pressure were observed after RSD. The complication rate was minimal. Renal sympathetic denervation also reduces heart rate, which is a surrogate marker of cardiovascular risk.

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Which MAP kinase phosphorylates the transcription factor c-jun?

c-Jun is phosphorylated by c-Jun NH2-terminal kinase (JNK).

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What is the meaning of the acronym "TAILS" used in protein N-terminomics?

TAILS stands for "Terminal Amine Isotopic Labeling of Substrates"

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Do mutations of AKT1 occur in meningiomas?

Yes, AKT1 mutation occurs in meningiomas.

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What are the main indications of lacosamide?

Lacosamide is an anti-epileptic drug, licensed for refractory partial-onset seizures. In addition to this, it has demonstrated analgesic activity in various animal models. Apart from this, LCM has demonstrated potent effects in animal models for a variety of CNS disorders like schizophrenia and stress induced anxiety.

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Which fusion protein is involved in the development of Ewing sarcoma?

Ewing sarcoma is the second most common bone malignancy in children and young adults. In almost 95% of the cases, it is driven by oncogenic fusion protein EWS/FLI1, which acts as an aberrant transcription factor, that upregulates or downregulates target genes, leading to cellular transformation.

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List Hemolytic Uremic Syndrome Triad.

Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of anaemia, thrombocytopenia, renal failure.

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Does physical activity influence gut hormones?

Yes.

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What are the effects of depleting protein km23-1 (DYNLRB1) in a cell?

The knockdown of km23-1 results in numerous effects at the cellular level, such as decreased cell migration. Additionaly, km23-1 is involved in signalling pathways and its knockdown results in decreased RhoA activation, inhibition of TGFβ-mediated activation of ERK and JNK, phosphorylation of c-Jun, transactivation of the c-Jun promoter and decreased TGFbeta responses.

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Treatment of which disease was investigated in the MR CLEAN study?

Multicenter Randomized CLinical trial of Endovascular treatment for Acute ischemic stroke in the Netherlands (MR CLEAN) study investigated endovascular treatment for acute ischemic stroke.

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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.

[24056933]

Is irritable bowel syndrome more common in women with endometriosis?

Yes, irritable bowel syndrome (IBS) is more common in women with endometriosis. It has been shown that 15% of the patients with endometriosis also had IBS. Women with endometriosis are more likely to have received a diagnosis of IBS. Endometriosis may coexist with or be misdiagnosed as IBS.

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What is evaluated using the EORTC QLQ – INFO25 questionnaire?

The European Organisation for Research and Treatment of Cancer Quality of Life Group information questionnaire (EORTC QLQ-INFO 25) evaluates the level of information patients have received in different areas of their disease, treatment and care, and evaluates qualitative aspects together with satisfaction with information.

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Does BNP increase after intensive exercise in athletes?

BNP and NTproBNP increase early after exercise in healthy athletes performing different types of sports. It is unknown the reason of this increase. The transient increases in BNP, NT-pro-BNP and troponin T are more likely to reflect myocardial stunning than cardiomyocyte damage.

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What is the association of estrogen replacement therapy and intracranial meningioma risk?

The association between hormone replacement therapy and meningioma risk is controversial. Increased risk of meningioma was demonstrated in estrogen-only hormonal replacement therapy. However, other studies did not find an association between hormonal replacement therapy and meningioma risk.

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Are there web based self management strategies for chronic pain ?

Results suggest the potential value of self-management for chronic pain patients and the potential acceptability of web-based delivery of intervention content.

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Is Weaver syndrome similar to Sotos?

Overgrowth conditions are a heterogeneous group of disorders characterised by increased growth and variable features, including macrocephaly, distinctive facial appearance and various degrees of learning difficulties and intellectual disability. Among them, Sotos and Weaver syndromes are clinically well defined and due to heterozygous mutations in NSD1 and EZH2, respectively. NSD1 and EZH2 are both histone-modifying enzymes

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Which enzyme is targeted by Evolocumab?

Evolocumab (AMG145) is a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9) that demonstrated marked reductions in plasma low-density lipoprotein cholesterol concentrations in statin-intolerant patients.

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Are ultraconserved elements often transcribed?

Yes. Especially, a large fraction of non-exonic UCEs is transcribed across all developmental stages examined from only one DNA strand.

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What is the methyl donor of DNA (cytosine-5)-methyltransferases?

S-adenosyl-L-methionine (AdoMet, SAM) is the methyl donor of DNA (cytosine-5)-methyltransferases. DNA (cytosine-5)-methyltransferases catalyze the transfer of a methyl group from S-adenosyl-L-methionine to the C-5 position of cytosine residues in DNA.

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Is peripheral neuroepithelioma related to Ewing sarcoma?

Experimental data support the concept that Ewing sarcoma and peripheral neuroepithelioma are both peripheral primitive neuroectodermal neoplasms, differing only in the extent of neuroectodermal phenotype and morphological differentiation.

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Which signaling pathway does sonidegib inhibit?

Sonidegib is a Hedghog signalling pathway inhibitor.

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In which phase of the cell cycle arrest is impaired in Fanconi anemia?

In response to damage induced by DNA cross-linking agents, the S-phase checkpoint is inefficient in Fanconi anemia (FA) cells, leading to accumulation of secondary lesions, such as single- and double-strand breaks and gaps. The prolonged time in G2 phase seen in FA cells therefore exists in order to allow the cells to remove lesions which accumulated during the preceding abnormal S phase.

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Which DNA sequences are more prone for the formation of R-loops?

R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and Friedreich's ataxia. Physiological R-loop formation at CpG island promoters can contribute to DNA replication origin specification at these regions, the most efficient replication initiation sites in mammalian cells. R-loops may also possess beneficial effects, as their widespread formation has been detected over CpG island promoters in human genes. R-loops are particularly enriched over G-rich terminator elements.

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Mutation of which gene is implicated in the familial isolated pituitary adenoma?

Mutation of aryl hydrocarbon receptor interacting protein (AIP) gene was implicated in the familial isolated pituitary adenoma (FIPA) syndrome. About 20% of the families with FIPA harbor inactivating mutation in AIP gene.

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which mutations of troponin C gene have been found to cause hypertrophic cardiomyopathy?

The following mutations of troponin C gene have been found to cause hypertrophic cardiomyopathy: L29Q; A8V; A31S; E134D; c.363dupG; A23Q; D145E and C84Y

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What is known about the effect of acupuncture in smoking cessation ?

Ear acupressure (EAP) and ear acupuncture have been used for smoking cessation, and some positive results have been reported. Auricular (ear) acupressure has been purported to be beneficial in achieving smoking cessation in some studies, while in others has been deemed insignificant. The combined acupuncture-education group showing the greatest effect from treatment.

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Which post-translational histone modifications are characteristic of constitutive heterochromatin?

H3K9me3 is the major marker of constitutive heterochromatin. Other histone methylation marks usually found in constitutive heterochromatin, are H4K20me3 and H3K79me3. Classical histone modifications associated with heterochromatin include H3K9me2, H3K27me1 and H3K27me2. Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatin. H3S10 phosphorylation marks constitutive heterochromatin during interphase in early mouse embryos until the 4-cell stage

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GV1001 vaccine targets which enzyme?

GV1001 is a 16-amino-acid vaccine peptide derived from the human telomerase reverse transcriptase sequence. It has been developed as a vaccine against various cancers.

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Which is the E3 ubiquitin ligase which ubiquitinates IkB leading to its proteasomal degradation?

IκB degradation involves ubiquitination mediated by a specific E3 ubiquitin ligase SCF(β-TrCP). SCF(β-TrCP) -mediated IκB ubiquitination and degradation is a very efficient process, often resulting in complete degradation of the key inhibitor IκBα within a few minutes of cell stimulation.

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Is c-met involved in the activation of the Akt pathway?

HGF-induced activation of c-Met is playing a pivotal role in the stimulation of c-Src activation, resulting in induction of phosphatidylinositol 3-kinase complexes p85α/p110α and p85α/p110δ, which is required for Akt-mediated activation of mammalian target of rapamycin, with consequent inhibition of IκB kinase and nuclear factor-κB activation, resulting in enhanced cell survival.

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Is pregnancy an additional risk during during H1N1 infection?

Pregnant women are at increased risk for complications from pandemic influenza H1N1 virus infection. Pregnant women, because of their altered immunity and physiological adaptations, are at higher risk of developing pulmonary complications, especially in the second and third trimesters. Pregnancy, particularly during the third trimester, increases the risk of complications and early antiviral treatment is associated with improved outcomes.

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Are long non coding RNAs as conserved in sequence as protein coding genes?

No. Most long non coding RNAs (lncRNAs) are under lower sequence constraints than protein-coding genes.

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Mutation of which gene is implicated in the Brain-lung-thyroid syndrome?

Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations.

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What is clathrin?

Clathrin helps build small vesicles in order to safely transport molecules within and between cells.

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What are the main results of PRKAR1A Knockdown?

Suppression of protein kinase A regulatory subunit 1 alpha (PRKAR1A) has been proven to inhibit cholangiocarcinoma (CCA) cell growth and enhance apoptosis. Also, Knockdown of the cAMP-dependent protein kinase (PKA) Type Ialpha regulatory subunit in mouse oocytes disrupts meiotic arrest and results in meiotic spindle defects.

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Is TENS machine effective in pain?

Transcutaneous electrical nerve stimulation is widely used in pain management

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Is there any algorithm for enhancer identification from chromatin state?

yes

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Which enzyme is targeted by the drug Imetelstat?

Imetelstat sodium (GRN163L), is a 13-mer oligonucleotide N3'→P5' thio-phosphoramidate lipid conjugate, which represents the latest generation of telomerase inhibitors targeting the template region of the human functional telomerase RNA subunit. In preclinical trials, this compound has been found to inhibit telomerase activity in multiple cancer cell lines, as well as in vivo xenograft mouse models.

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Which interleukins are inhibited by Dupilumab?

Dupilumab, a fully human monoclonal antibody that blocks interleukin-4 and interleukin-13, has shown efficacy in patients with asthma and elevated eosinophil levels.

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Which human genes are more commonly related to craniosynostosis?

The genes that are most commonly linked to craniosynostoses are the members of the Fibroblast Growth Factor Receptor family FGFR3 and to a lesser extent FGFR1 and FGFR2. Some variants of the disease have been associated with the triplication of the MSX2 gene and mutations in NELL-1. NELL-1 is being regulated bu RUNX2, which has also been associated to cases of craniosynostosis. Other genes reported to have a role in the development of the disease are RECQL4, TWIST, SOX6 and GNAS.

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Are transcribed ultraconserved regions involved in cancer?

Yes, it appears that there is widespread T-UCR (Transcribed - UltraConserved Region) involvement in diverse cellular processes that are deregulated in the process of tumourigenesis. Transcribed ultraconserved regions (T-UCRs) are a subset of 481 sequences longer than 200 bp, which are absolutely conserved between orthologous regions of human, rat and mouse genomes, and are actively transcribed. It has recently been proven in cancer systems that differentially expressed T-UCRs could alter the functional characteristics of malignant cells.

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In which breast cancer patients can palbociclib be used?

Palbociclib is useful for women with hormone receptor-positive, human epidermal growth factor receptor 2-negative breast cancer.

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Do patients with Pendred syndrome present congenital deafness?

Congenital deafness is one of the characteristics of Pendred syndrome patients.

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List side effects of SGLT2 inhibitors?

SGLT2 inhibitors can be associated with urogenital infections related to the enhanced glycosuria, and low blood pressure.

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Is CD56 useful in Ewing sarcoma prognosis?

Excellent prognosis in a subset of patients with Ewing sarcoma identified at diagnosis by CD56 using flow cytometryIn patients with localized nonpelvic disease, those expressing low/negative CD56 had 100% PFS versus 40% in the high expressing group (P = 0.02)

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What is the method FASP used for?

Filter Aided Sample Preparation (FASP), a type of proteomic reactor, in which samples dissolved in sodium dodecyl sulfate (SDS) are digested in an ultrafiltration unit.

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What is the role of extracellular signal-related kinases 1 and 2 (ERK1/2) proteins in craniosynostosis?

Reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2 causes complex craniosynostosis (premature fusion of the cranial sutures) in humans and mice. Features of this newly recognized clinical disorder include multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay.

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Are there any urine biomarkers for chronic kidney disease?

Chronic kidney disease (CKD), is a progressive loss in renal function over a period of months or years. The symptoms of worsening kidney function are non-specific, and might include feeling generally unwell and experiencing a reduced appetite. Often, chronic kidney disease is diagnosed as a result of screening of people known to be at risk of kidney problems, such as those with high blood pressure or diabetes and those with a blood relative with chronic kidney disease. Chronic kidney disease may also be identified when it leads to one of its recognized complications, such as cardiovascular disease, anemia or pericarditis. It is differentiated from acute kidney disease in that the reduction in kidney function must be present for over 3 months.

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What is being measured with an accelerometer in back pain patients

Accelerometer assessment measuring overall physical activity (PAL), constant strain postures (CSP), standing time (ST) and lying time (LT)... The following parameters of physical activity were recorded: time upright (standing or walking), time standing, time walking, and step count.

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List the releases of JASPAR database

JASPAR, JASPAR CORE, JASPAR FAM, JASPAR phyloFACTS, JASPAR 2008 update, JASPAR 2010, JASPAR 2014.

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List symptoms of the IFAP syndrome.

The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia.

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Which gene is required for the efficient function of clopidogrel?

The prodrug clopidogrel requires activation by cytochrome P-450 (CYP) enzymes for its antiplatelet effect. Variability in clopidogrel response might be influenced by polymorphisms in genes coding for drug metabolism enzymes (cytochrome P450 CYP2C19), transport proteins (P-glycoprotein) and/or target proteins for the drug (adenosine diphosphate-receptor P2Y12). The CYP2C19 loss-of-function alleles had a gene dose effect on the pharmacodynamics and composite ischemic events of clopidogrel in our study population. Neither the ABCB1 nor the PON1 genotype significantly influenced the antiplatelet effect and clinical outcomes of clopidogrel in these patients

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Is valproic acid effective for glioblastoma treatment?

Yes, valproic acid prolong survival of glioblastoma patients. Valproic acid is an antiepileptic agent with histone deacetylase inhibitor activity shown to sensitize glioblastoma cells to radiation in preclinical models.

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Which transcription factor is considered as a master regulator of lysosomal genes?

Transcription factor EB (TFEB) is a master regulator of lysosomal biogenesis and autophagy, driving lysosome adaptation to environmental cues, such as starvation, and therefore targeting of TFEB may provide a novel therapeutic strategy for modulating lysosomal function in human disease.

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Which antibiotics target peptidoglycan biosynthesis?

Under some conditions, both ramoplanin and vancomycin probes produce helicoid staining patterns along the cylindrical walls of B. subtilis cells. This work has implications for the design of ramoplanin derivatives and may influence how other proposed substrate binding antibiotics are studied. This was confirmed by in vitro studies involving a wall-membrane particulate fraction from Gaffkya homari in which peptidoglycan synthesis from UDP-MurNAc-tetrapeptide was inhibited by ramoplanin but not by vancomycin. New results support a two-state model for septal and peripheral PG synthesis at mid-cell, involvement of essential cell division proteins in PG remodeling, and mid-cell localization of proteins that organize PG biosynthesis and that form the protein translocation apparatus.

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Can Levoxyl (levothyroxine sodium) cause insomnia?

Levoxyl monotherapy is associated with increased insomnia compared to a combination of levothyroxine and liothyronine.

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Is fatigue prevalent in patients receiving treatment for glioblastoma?

Yes, fatigue is a common complication of glioblastoma patients receiving chemotherapy or radiotherapy.

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List two common features of Tay syndrome.

Tay syndrome is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and trichothiodystrophy (abnormal brittle hair). Other less common features of this syndrome are photosensitivity, low birth weight, short stature, mental retardation, delayed neuromuscular development and other CNS anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely aged facial appearance, hypogonadism, cataracts, osteosclerosis, dysphonia, and increased susceptibility to infections.

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Which cell types are known to be driving Rheumatoid Arthritis?

Macrophages, T cells and their respective cytokines play a pivotal role in RA. Rheumatoid arthritis synovial fibroblasts (RASFs) constitute a quite unique cell type that distinguishes RA from other inflammatory conditions of the joints. Activated synovial fibroblasts (SFs) have the ability to invade joint cartilage, actively contributing to joint destruction in RA.

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What is the association between personality trait of neuroticism and risk for Alzheimer's disease?

High neuroticism is associated with increased risk to develop Alzheimer's disease. Greater neuroticism is also associated more advanced Alzheimer's disease neuropathology and younger age of dementia onset. Neuroticism's association with late-life dementia mainly reflects vulnerability to stress and anxiety. Neuroticism moderates the relationship between APOE-4 genotype and cognitive outcomes in elderly. Neuroticism also predicts Mild Cognitive Impairment, Aging-Associated Cognitive Decline and cognitive decline among elderly. Alzheimer's disease patients have greater neuroticism relative to controls.

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What is the mode of action of everolimus?

Everolimus is a drug that binds to mTORC1 and inhibits activation of the mTOR signalling pathway. It is used in targeted cancer therapy protocols or after transplantation for maintenance immunosuppression, against allograft rejection.

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Have Quantitative Trait Loci affecting splicing (splicing QTLs) been linked to disease?

Yes, mutations in the DNA that affect the splicing pattern of genes have been linked in transcriptome population studies to a number of diseases.

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Which technique is used for detection of EWS/FLI1 fusion transcripts?

Molecular detection of EWS-FLI1 chimeric transcripts in Ewing family tumors is carried out by reverse transcription-polymerase chain reaction (RT-PCR).

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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.

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What is the application of the Bimolecular Fluorescence Complementation (BiFC) assay in Drosophila embryos?

Bimolecular fluorescence complementation (BiFC) is a powerful method for studying protein-protein interactions in different cell types and organisms. This method was recently developed in the fruit fly Drosophila melanogaster, allowing analyzing protein interaction properties in a physiologically relevant developing context.

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Which pathological condition of the heart is known as hypertrophic cardiomyopathy (HCM)?

Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young particularly among athletes. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. HCM is the most prevalent genetic disorder affecting the heart and is typically inherited in an autosomal dominant pattern. Adults with cardiomyopathy suffer SCD or adverse events such as stroke and heart failure from HCM.

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What is the genetic basis of Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are a microdeletion at 16p13.3 or mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) at 22q13 (5%). Direct sequencing of CREBBP performed in 13 RSTS patients identified the three zinc fingers (CH1, CH2, CH3) and HAT domain as mutational hotspots. Thus about 55% of patients have cytogenetic or molecular abnormalities in the Crebbp or E1A binding protein p300 (Ep300) gene, leaving the diagnosis in 45% of patients to rest on clinical features only.

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What is the function of the viral KP4 protein?

The virally encoded fungal toxin KP4 specifically blocks L-type voltage-gated calcium channels.

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