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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 ... | Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a common
hereditary disorder causing intestinal obstruction, thereby showing considerable
phenotypic variation in conjunction with complex inheritance. Moreover,
phenotypic assessment of the disease has been complicated since a subset of the
ob... |
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). | Autocrine, paracrine, and juxtacrine are recognized modes of action for
mammalian EGFR ligands including EGF, TGF-α (TGFα), amphiregulin (AREG),
heparin-binding EGF-like growth factor (HB-EGF), betacellulin, epiregulin, and
epigen. We identify a new mode of EGFR ligand signaling via exosomes. Human
breast and color... |
Is the protein Papilin secreted? | Yes, papilin is a secreted protein | A sulfated glycoprotein was isolated from the culture media of Drosophila Kc
cells and named papilin. Affinity purified antibodies against this protein
localized it primarily to the basement membranes of embryos. The antibodies
cross-reacted with another material which was not sulfated and appeared to be
the core p... |
Are long non coding RNAs spliced? | Long non coding RNAs appear to be spliced through the same pathway as the mRNAs | Thousands of long noncoding RNAs (lncRNAs) have been found in vertebrate
animals, a few of which have known biological roles. To better understand the
genomics and features of lncRNAs in invertebrates, we used available RNA-seq,
poly(A)-site, and ribosome-mapping data to identify lncRNAs of Caenorhabditis
elegans. ... |
Is RANKL secreted from the cells? | Receptor activator of nuclear factor κB ligand (RANKL) is a cytokine predominantly secreted by osteoblasts. | Bone destruction is a common feature of inflammatory arthritis and is mediated
by osteoclasts, the only specialized cells to carry out bone resorption.
Aberrant expression of receptor activator of nuclear factor kappa β ligand
(RANKL), an inducer of osteoclast differentiation has been linked with bone
pathology and... |
Does metformin interfere thyroxine absorption? | No. There are not reported data indicating that metformin reduce with thyroxine absorption. | |
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. | OBJECTIVE: To determine the utility of serum miRNAs as biomarkers for epithelial
ovarian cancer.
METHODS: Twenty-eight patients with histologically confirmed epithelial ovarian
cancer were identified from a tissue and serum bank. Serum was collected prior
to definitive therapy. Fifteen unmatched, healthy controls we... |
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 ant... | Treatment for myasthenia gravis should be individualized to each patient based
on the clinical characteristics of myasthenia including the distribution,
duration, and severity of weakness and resulting functional impairment; the
risks for treatment complications related to age, gender, and medical
comorbidities; an... |
Has Denosumab (Prolia) been approved by FDA? | Yes, Denosumab was approved by the FDA in 2010. | Osteoporosis in men is finally receiving some attention; it has been realized
that men are more likely to die after hip fracture. Methods for screening men
for osteoporosis include dual energy x-ray absorptiometry and use of fracture
risk calculators such as FRAX (World Health Organization) and the Garvan
nomogram.... |
List the human genes encoding for the dishevelled proteins? | DVL-1
DVL-2
DVL-3 | The dishevelled gene of Drosophila is required to establish coherent arrays of
polarized cells and is also required to establish segments in the embryo. Here,
we show that loss of dishevelled function in clones, in double heterozygotes
with wingless mutants and in flies bearing a weak dishevelled transgene leads to ... |
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. | Acrokeratosis paraneoplastica of Bazex is a rare cutaneous syndrome associated
with maligt neoplasms of the pulmonary and upper gastrointestinal tract, or
cervical metastatic adenopathy, usually seen in middle-aged white men. We
present a unique case of Bazex syndrome in that the patient was young, black,
and a wom... |
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-c... | The present paper reviews classification and mode of action of agents that
suppress extrasystoles and tachyarrhythmias. These are classified according to
their electrophysiological effects observed in isolated cardiac tissues in vitro
(Vaughan Williams, 1989). Fast sodium channel blockers (class I) which reduce
the... |
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. | Notch signaling is an evolutionarily conserved mechanism, used to regulate cell
fate decisions. Four Notch receptors have been identified in man (Notch-1 to
-4). In this study, semiquantitative reverse transcription polymerase chain
reaction (RT-PCR) and immunohistochemistry were used to examine the expression
patt... |
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. | Although reactive oxygen species have been proposed to play a major role in the
aging process, the exact molecular mechanisms remain elusive. In this study we
investigate the effects of a perturbation in the ratio of Cu/Zn-superoxide
dismutase activity (Sod1 dismutases .O2-to H2O2) to glutathione peroxidase
activit... |
Orteronel was developed for treatment of which cancer? | Orteronel was developed for treatment of castration-resistant prostate cancer. | A novel naphthylmethylimidazole derivative 1 and its related compounds were
identified as 17,20-lyase inhibitors. Based on the structure-activity
relationship around the naphthalene scaffold and the results of a docking study
of 1a in the homology model of 17,20-lyase, the
6,7-dihydro-5H-pyrrolo[1,2-c]imidazole der... |
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. | Antibody to the Her-2/neu gene product has been shown to inhibit the growth of
breast cancer cells overexpressing Her-2/neu and to have clinical utility in
treating breast cancer. We studied a recombit, humanized anti-Her-2/neu
antibody (Herceptin) in preclinical models of human prostate cancer. The
androgen-depend... |
Which are the Yamanaka factors? | The Yamanaka factors are the OCT4, SOX2, MYC, and KLF4 transcription factors | Yamanaka factors (Oct3/4, Sox2, Klf4, c-Myc) are highly expressed in embryonic
stem (ES) cells, and their over-expression can induce pluripotency in both mouse
and human somatic cells, indicating that these factors regulate the
developmental signaling network necessary for ES cell pluripotency. However,
systemic an... |
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 | The objective of the international Chromosome-Centric Human Proteome Project
(C-HPP) is to map and annotate all proteins encoded by the genes on each human
chromosome. The C-HPP consortium was established to organize a collaborative
network among the research teams responsible for protein mapping of individual
chro... |
Where is the protein Pannexin1 located? | The protein Pannexin1 is localized to the plasma membranes. | Our previously reported cDNA array datasets from neonatal wild-type and Cx43-/-
(approved gene symbol Gja1) mouse brains were further analyzed to identify
underlying interlinkages in the brain transcriptome. The analysis revealed that
no gene cohort sharing either primary function or chromosomal location was
signif... |
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) Al... | BACKGROUND: Mutations in the gene encoding mitochondrial DNA polymerase gamma
(POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been
associated with a mitochondrial disease-autosomal domit or recessive
progressive external ophthalmoplegia-and multiple deletions of mtDNA.
Mitochondrial dysfunction ... |
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 impr... | BACKGROUND: Heart rate reduction (HRR) improves left ventricular (LV) filling,
increases myocardial O2 supply, and reduces myocardial O2 consumption, which are
all beneficial in congestive heart failure (CHF). However, the long-term effects
of HRR on cardiac function and remodeling are unknown.
METHODS AND RESULTS: ... |
What is the mode of inheritance of Wilson's disease? | Wilson's disease (WD) is an autosomal recessive disorder. | In a survey in Israel of 50 patients with Wilson's disease, it was found that
this disease occurred in all ethnic groups. In the Arab patients there was a
significantly early age of onset and the disease followed a more severe course
than that in the Jewish patients. The overall sex ratio of patients was nearly
1:1... |
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 expla... | Transcription and pre-mRNA splicing are extremely complex multimolecular
processes that involve protein-DNA, protein-RNA, and protein-protein
interactions. Splicing occurs in the close vicinity of genes and is frequently
cotranscriptional. This is consistent with evidence that both processes are
coordinated and, in... |
What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)? | Facioscapulohumeral muscular dystrophy has an autosomal dominant inheritance pattern. | Extrapolating the figures from a previous study on FSHD in a province of The
Netherlands to the entire Dutch population suggests that at present a nearly
complete overview is obtained of all symptomatic kindred. In 139 families,
domit inheritance was observed in 97, a pattern compatible with germline
mosaicism in 6... |
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-fr... | The changes in DNA methylation status in cancer cells are characterized by
hypermethylation of promoter CpG islands and diffuse genomic hypomethylation.
Alu and long interspersed nucleotide element-1 (LINE-1) are non-coding genomic
repetitive sequences and methylation of these elements can be used as a
surrogate ma... |
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. | Triadin 1 is a major transmembrane protein in cardiac junctional sarcoplasmic
reticulum (SR), which forms a quaternary complex with the ryanodine receptor
(Ca(2+) release channel), junctin, and calsequestrin. To better understand the
role of triadin 1 in excitation-contraction coupling in the heart, we generated
tr... |
What kind of chromatography is HILIC? | Hydrophilic Interaction Chromatography (HILIC) | Uric acid is the end-product of purine metabolism and a major antioxidant in
humans. The concentrations of uric acid in plasma and urine are associated with
various diseases and routinely measured in clinical and biomedical laboratories
using enzymatic conversion and colorimetric measurement. In this study a
hydrop... |
What is the effect of TRH on myocardial contractility? | TRH improves myocardial contractility | Thyrotropin-releasing hormone (TRH) improved mean arterial pressure (MAP) and
myocardial contractility (dp/dtmax, -dp/dtmax, Vpm, and Vmax) and increased
plasma epinephrine levels significantly at 10 min after TRH treatment in rabbits
following shock, but the effects of TRH on MAP and myocardial contractility
disap... |
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. | Arthrobacter phethrenivorans is the type species of the genus, and is able to
metabolize phethrene as a sole source of carbon and energy. A.
phethrenivorans is an aerobic, non-motile, and Gram-positive bacterium,
exhibiting a rod-coccus growth cycle which was originally isolated from a
creosote polluted site in Epi... |
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. | Histone acetylation is important in chromatin remodelling and gene activation.
Nearly all known histone-acetyltransferase (HAT)-associated transcriptional
co-activators contain bromodomains, which are approximately 110-amino-acid
modules found in many chromatin-associated proteins. Despite the wide occurrence
of th... |
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 du... | We report three children with autistic spectrum disorders who underwent upper
gastrointestinal endoscopy and intravenous administration of secretin to
stimulate pancreaticobiliary secretion. All three had an increased
pancreaticobiliary secretory response when compared with nonautistic patients
(7.5 to 10 mL/min ve... |
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. | Despite the considerable advances in the treatment of hypertension that have
been made over the past few decades, adequate management and control of this
condition remains poor, and efforts are ongoing to develop new strategies to
improve related outcomes. Novel therapeutic approaches to the management of
systemic ... |
Which MAP kinase phosphorylates the transcription factor c-jun? | c-Jun is phosphorylated by c-Jun NH2-terminal kinase (JNK). | Tyrosine kinase growth factor receptors activate MAP kinase by a complex
mechanism involving the SH2/3 protein Grb2, the exchange protein Sos, and Ras.
The GTP-bound Ras protein binds to the Raf kinase and initiates a protein kinase
cascade that leads to MAP kinase activation. Three MAP kinase kinase kinases
have b... |
What is the meaning of the acronym "TAILS" used in protein N-terminomics? | TAILS stands for "Terminal Amine Isotopic Labeling of Substrates" | The neutrophil-specific protease membrane-type 6 matrix metalloproteinase
(MT6-MMP)/MMP-25/leukolysin is implicated in multiple sclerosis and cancer yet
remains poorly characterized. To characterize the biological roles of MT6-MMP,
it is critical to identify its substrates for which only seven are currently
known. ... |
Do mutations of AKT1 occur in meningiomas? | Yes, AKT1 mutation occurs in meningiomas. | Meningiomas are the most common primary nervous system tumor. The tumor
suppressor NF2 is disrupted in approximately half of all meningiomas, but the
complete spectrum of genetic changes remains undefined. We performed
whole-genome or whole-exome sequencing on 17 meningiomas and focused sequencing
on an additional ... |
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. | This paper comprises a series of experiments in rodent models of partial and
generalized epilepsy which were designed to describe the anti-convulsant profile
of the functionalized amino acid lacosamide. Lacosamide was effective against
sound-induced seizures in the genetically susceptible Frings mouse, against
maxi... |
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. | The Ewing family of tumors harbors chromosomal translocations that join the
N-terminal region of the EWS gene with the C-terminal region of several
transcription factors of the ETS family, mainly FLI1, resulting in chimeric
transcription factors that play a pivotal role in the pathogenesis of Ewing
tumors. To ident... |
List Hemolytic Uremic Syndrome Triad. | Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of anaemia, thrombocytopenia, renal failure. | Hemolytic uremic syndrome is a rare entity in patients with carcinoma and
presents with a triad of renal insufficiency, microangiopathic hemolytic anemia,
and thrombocytopenia. We report this syndrome for the first time in a patient
with small cell lung carcinoma. Spontaneous platelet aggregation of washed
normal p... |
Does physical activity influence gut hormones? | Yes. | Syrian golden hamsters when allowed free access to food and an exercise wheel
will run long distances and develop hyperphagia and accelerated linear body
growth with high circulating levels of growth hormone and insulin. Somatostatin,
a widely distributed brain-gut neurohormonal peptide, modulates nutrient
absorpti... |
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 ... | We previously identified km23 as a novel TGFbeta receptor-interacting protein.
Here we show that km23 is ubiquitously expressed in human tissues and that
cell-type specific differences in endogenous km23 protein expression exist. In
addition, we demonstrate that the phosphorylation of km23 is TGFbeta-dependent,
in ... |
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. | In 3 recent randomized controlled trials of intra-arterial treatment of acute
ischemic stroke - IMS-III, SYNTHESIS and MR RESCUE - intra-arterial treatment
increased the proportion of patients with recanalization and the treatment
appeared safe. However, the trials did not show an effect on functional
recovery, alt... |
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. | After fertilization, maternal factors direct development and trigger zygotic
genome activation (ZGA) at the maternal-to-zygotic transition (MZT). In
zebrafish, ZGA is required for gastrulation and clearance of maternal messenger
RNAs, which is in part regulated by the conserved microRNA miR-430. However, the
factor... |
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. | Both irritable bowel syndrome and endometriosis are common conditions, although
symptomatic gastrointestinal endometriosis is extremely rare. We report the case
of a patient initially thought to have irritable bowel syndrome, in whom the
diagnosis of endometriosis only became clear following a laparotomy for small
... |
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 informat... | Information is one of the main interventions given to cancer patients. Important
research into information disclosure has been conducted and major advances have
been made. We present the main theoretical models used to understand the
information field and describe the current situation regarding the principal
facto... |
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. | BACKGROUND: Now that marathon racing is growing in popularity, many thousands of
enthusiastic athletes are participating in various ultramarathons all over the
world each year. However, it remains controversial whether such a sport
contributes to the promotion of health. The occurrence of transient cardiac
dysfunct... |
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. | Meningiomas are slow-growing benign brain tumors. The etiology of meningioma is
largely unknown, and exposure to high-dose ionizing radiation and coexistence
with certain rare genetic conditions explain only a small fraction of the
incidence of the disease. The evidence that implicates gender-specific hormones
in t... |
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. | BACKGROUND: Internet-based interventions are increasingly used to support
self-management of individuals with chronic illnesses. Web-based interventions
may also be effective in enhancing self-management for individuals with chronic
pain, but little is known about long-term effects. Research on Web-based
interventi... |
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... | The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic
difficulties faced by clinical geneticists attempting to diagnose and counsel,
and to give accurate prognoses in cases of extensive phenotypic overlap between
molecularly undefined entities. Vertebrate development is constrained into only
ver... |
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. | BACKGROUND: Evolocumab (AMG 145), a monoclonal antibody against proprotein
convertase subtilisin/kexin type 9 (PCSK9), significantly reduced low-density
lipoprotein cholesterol (LDL-C) in phase 2 studies of 12 weeks' duration. The
longer-term efficacy and safety of PCSK9 inhibition remain undefined.
METHODS AND RESU... |
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. | The identification of ultraconserved noncoding sequences in vertebrates has been
associated with developmental regulators and DNA-binding proteins. One of the
first of these was identified in the intergenic region between the Dlx-5 and
Dlx-6 genes, members of the Dlx/dll homeodomain-containing protein family. In
pr... |
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. | The properties of the methyl-directed DNA (cytosine-5-)-methyltransferase (EC
2.1.1.37) suggest that it is the enzyme that maintains patterns of methylation
in the human genome. Proposals for the enzyme's mechanism of action suggest that
5-methyldeoxycytidine is produced from deoxycytidine via a dihydrocytosine
int... |
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. | The histogenesis of Ewing sarcoma, the second most frequent bone tumor in
humans, remains controversial. Four Ewing cell lines were analyzed by
immunological methods. A panel of antibodies directed to T, B, and
myelomonocytic markers gave negative results. Surface antigens recognized on
Ewing cells were found to be... |
Which signaling pathway does sonidegib inhibit? | Sonidegib is a Hedghog signalling pathway inhibitor. | PURPOSE: This phase I trial was undertaken to determine the maximum tolerated
dose (MTD), dose-limiting toxicities (DLT), safety, tolerability,
pharmacokinetics, pharmacodynamics, and preliminary antitumor activity of the
novel smoothened inhibitor sonidegib (LDE225), a potent inhibitor of hedgehog
signaling, in pa... |
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 ... | Fanconi anemia (FA) is a genetic disorder defined by cellular hypersensitivity
to DNA cross-linking agents, such as mitomycin C (MMC). MMC causes increased FA
cell death, chromosome breakage, and accumulation in the G2 phase of the cell
cycle. Recently, Fanconi anemia complementation group C (fac) gene knock-out
mi... |
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 repl... | Immunoglobulin H class-switch recombination (CSR) occurs between switch regions
and requires transcription and activation-induced cytidine deaminase (AID).
Transcription through mammalian switch regions, because of their GC-rich
composition, generates stable R-loops, which provide single-stranded DNA
substrates for... |
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. | CONTEXT: An association between germline aryl hydrocarbon receptor-interacting
protein (AIP) gene mutations and pituitary adenomas was recently shown.
OBJECTIVE: The objective of the study was to assess the frequency of AIP gene
mutations in a large cohort of patients with familial isolated pituitary adenoma
(FIPA).... |
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 | We investigated structural and functional aspects of the first mutation in
TNNC1, coding for the calcium-binding subunit (cTnC) of cardiac troponin, which
was detected in a patient with hypertrophic cardiomyopathy [ Hoffmann B,
Schmidt-Traub H, Perrot A, Osterziel KJ & Gessner R (2001) Hum Mut17, 524]. This
mutatio... |
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 ... | BACKGROUND: Tobacco smoking is a major cause of preventable disease and
premature death. Physicians should play an active role in the control of smoking
by encouraging cessation and helping the smoker to choose the most suitable aid
to cessation.
AIM: To evaluate a simple, ear acupuncture treatment for the cessation... |
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 associa... | Histone methylation was first described more than 35 years ago, but its role has
remained enigmatic. Proposed functions range from transcriptional regulation to
the higher-order packaging of chromatin in preparation for mitotic condensation.
Histone methylation can occur on Arg or Lys residues, with an exquisite sit... |
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. | Pancreatic cancer has a very high mortality rate and affects approximately
230,000 individuals worldwide. Gemcitabine has become established as the
standard therapy for advanced pancreatic cancer; however, the survival advantage
is small. Adjuvant chemotherapy using either 5-fluorouracil or gemcitabine is
now estab... |
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. | NF-kappaB (nuclear factor-kappaB) is a collective name for inducible dimeric
transcription factors composed of members of the Rel family of DNA-binding
proteins that recognize a common sequence motif. NF-kappaB is found in
essentially all cell types and is involved in activation of an exceptionally
large number of ... |
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 nucl... | Acute irreparable UV-induced DNA damage leads to apoptosis of epidermal
keratinocytes (KC) and the formation of sunburn cells, whereas less severely
damaged cells survive but harbor the potential of tumor formation. Here we
report that hepatocyte growth factor/scatter factor (HGF/SF) prevents
UVB-induced apoptosis ... |
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 th... | BACKGROUND: Pregt women have been identified as a group at risk of increased
morbidity and mortality associated with the pandemic H1N1 influenza A 2009
(H1N1/09) outbreak.
METHODS: Six hospitals in the state of Victoria, Australia, contributed
retrospective and prospective demographic and clinical data, reason for
... |
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. | Experimental evidence suggests that half or more of the mammalian transcriptome
consists of noncoding RNA. Noncoding RNAs are divided into short noncoding RNAs
(including microRNAs) and long noncoding RNAs (lncRNAs). We defined
complementary DNAs (cDNAs) lacking any positive-strand open reading frames
(ORFs) longer... |
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. | Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid
syndrome, characterized by congenital hypothyroidism (CH), infant respiratory
distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of
the present study were (i) detection of NKX2-1 mutations in patients with CH
a... |
What is clathrin? | Clathrin helps build small vesicles in order to safely transport molecules within and between cells. | Author information:
(1)Department of Cell Biology and Physiology, University of Pittsburgh School of
Medicine, Pittsburgh, Pennsylvania, USA. traub@pitt.edu Author information:
(1)Department of Cell Biology and Physiology, University of Pittsburgh School of
Medicine, Pittsburgh, Pennsylvania, United States of America... |
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 de... | In mammalian oocytes, cyclic AMP-dependent protein kinase (PKA) is responsible
for maintaining meiotic arrest. We examined the role of the predomit
regulatory subunit, RIalpha in regulating PKA activity during mouse oocyte
maturation by knocking down the protein levels using an RNA interference
approach. In oocytes... |
Is TENS machine effective in pain? | Transcutaneous electrical nerve stimulation is widely used in pain management | The hypoalgesic effect of transcutaneous electrical nerve stimulation (TENS) at
2 different frequencies was assessed under double-blind conditions using a
standardised form of the submaximum effort tourniquet technique. For the purpose
of pain induction, 32 healthy naive female subjects attended on 2 occasions, the ... |
Is there any algorithm for enhancer identification from chromatin state? | yes | The chemical modification of histones at specific DNA regulatory elements is
linked to the activation, inactivation and poising of genes. A number of tools
exist to predict enhancers from chromatin modification maps, but their practical
application is limited because they either (i) consider a smaller number of
mar... |
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 a... | Telomeres and telomerase play essential roles in the regulation of the lifespan
of human cells. While normal human somatic cells do not or only transiently
express telomerase and therefore shorten their telomeres with each cell
division, most human cancer cells typically express high levels of telomerase
and show u... |
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. | PURPOSE OF REVIEW: A small proportion of patients with asthma have severe
disease characterized by persistent airflow obstruction, airway
hyperresponsiveness and eosinophilic airway inflammation. This review focuses on
the clinical efficacy of inhibiting T helper 2-cytokine-mediated inflammatory
responses using mon... |
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, ... | Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor
3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20
unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The
discovery of this apparently common mutation has resulted in the definition of a
r... |
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 ortho... | Different classes of non-coding RNAs, including microRNAs, have recently been
implicated in the process of tumourigenesis. In this study, we examined the
expression and putative functions of a novel class of non-coding RNAs known as
transcribed ultraconserved regions (T-UCRs) in neuroblastoma. Genome-wide
expressio... |
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. | Women with hormone receptor-positive, human epidermal growth factor receptor 2-
negative breast cancer-the most common subtype-have new options as palbociclib
and similar drugs debut. This article outlines the rationale and evidence for
their use. |
Do patients with Pendred syndrome present congenital deafness? | Congenital deafness is one of the characteristics of Pendred syndrome patients. | Although 5% of all cases of congenital deafness are caused by Pendred's
syndrome, there are few reports in the literature. Seven patients with Pendred's
syndrome in three families living in the same village were detected. For that
reason, the syndrome is reviewed in light of the literature. The sex
distribution of ... |
List side effects of SGLT2 inhibitors? | SGLT2 inhibitors can be associated with urogenital infections related to the enhanced glycosuria, and low blood pressure. | BACKGROUND: The kidney plays an important role in glucose metabolism, and has
been considered a target for therapeutic intervention. The sodium-glucose
cotransporter type 2 (SGLT2) mediates most of the glucose reabsorption from the
proximal renal tubule. Inhibition of SGLT2 leads to glucosuria and provides a
unique... |
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) | A thorough literature search revealed no previous reports of this entity, and we
are the first to describe a case of a high-grade sarcoma arising from a
recurrent immature teratoma misdiagnosed as growing teratoma syndrome. The
patient was a 23-yr-old female, diagnosed at the age of 20 with a Stage IIIB
immature ov... |
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. | Chlorobaculum (Cba.) tepidum is a green sulfur bacterium that oxidizes sulfide,
elemental sulfur, and thiosulfate for photosynthetic growth. To gain insight
into the sulfur metabolism, the proteome of Cba. tepidum cells sampled under
different growth conditions has been quantified using a rapid gel-free,
filter-aid... |
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 malf... | The extracellular signal-related kinases 1 and 2 (ERK1/2) are key proteins
mediating mitogen-activated protein kinase signaling downstream of RAS:
phosphorylation of ERK1/2 leads to nuclear uptake and modulation of multiple
targets. Here, we show that reduced dosage of ERF, which encodes an inhibitory
ETS transcrip... |
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 peopl... | There is a strong association between both acute and chronic dysfunction of the
heart and kidneys with respect to morbidity and mortality. The complex
interrelationships of longitudinal changes in both organ systems have been
difficult to describe and fully understand due to a lack of categorization of
the common c... |
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. | We studied the temporal relationship between pain and activity in patients with
acute or chronic low back pain. We studied 15 patients with acute low back pain
and 15 patients with chronic low back pain over 3 wk. The activity levels were
collected automatically using a wrist accelerometer and were sampled every
mi... |
List the releases of JASPAR database | JASPAR, JASPAR CORE, JASPAR FAM, JASPAR phyloFACTS, JASPAR 2008 update, JASPAR 2010, JASPAR 2014. | The analysis of regulatory regions in genome sequences is strongly based on the
detection of potential transcription factor binding sites. The preferred models
for representation of transcription factor binding specificity have been termed
position-specific scoring matrices. JASPAR is an open-access database of
ann... |
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. | We report on a boy with short stature, mental retardation, seizures, follicular
ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia,
congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other
anomalies, and a normal chromosome constitution. The clinical findings include
... |
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 dr... | BACKGROUND AND PURPOSE: There is considerable variability in the antiplatelet
effects of the thienopyridine agent "clopidogrel." We tested for an association
of gene sequence variations in P2Y12 and occurrence of neurological adverse
events in patients with symptomatic peripheral artery disease (PAD) during
clopido... |
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. | PURPOSE: Valproic acid (VA) is an antiepileptic drug (AED) and histone
deacetylase (HDAC) inhibitor taken by patients with glioblastoma (GB) to manage
seizures, and it can modulate the biologic effects of radiation therapy (RT). We
investigated whether VA use during RT for GB was associated with overall
survival (O... |
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. | Mammalian target of rapamycin (mTOR) complex 1 (mTORC1) is an important, highly
conserved, regulator of cell growth. Ancient among the signals that regulate
mTORC1 are nutrients. Amino acids direct mTORC1 to the surface of the late
endosome/lysosome, where mTORC1 becomes receptive to other inputs. However, the
inte... |
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 v... | Mersacidin is an antibiotic peptide produced by Bacillus sp. strain HIL
Y-85,54728 that belongs to the group of lantibiotics. Its activity in vivo
against methicillin-resistant Staphylococcus aureus strains compares with that
of the glycopeptide antibiotic vancomycin (S. Chatterjee, D. K. Chatterjee, R.
H. Jani, J.... |
Can Levoxyl (levothyroxine sodium) cause insomnia? | Levoxyl monotherapy is associated with increased insomnia compared to a combination of levothyroxine and liothyronine. | OBJECTIVES: To examine the efficacy of combination therapy with levothyroxine
and liothyronine in improvement of general health, psychological problems, and
metabolic status in primary hypothyroidism.
METHODS: Seventy-one patients diagnosed with primary hypothyroidism were
randomly allocated into two study groups: t... |
Is fatigue prevalent in patients receiving treatment for glioblastoma? | Yes, fatigue is a common complication of glioblastoma patients receiving chemotherapy or radiotherapy. | In the 1950's it was first observed that mammalian cells exposed to the
halogenated deoxyuridines were more sensitive to ultraviolet light and radiation
than untreated cells. This prompted early clinical trials with bromodeoxyuridine
(BUdR) which showed mixed results. More recently, several Phase I studies, while
e... |
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 anoma... | Trichothiodystrophy (brittle sulfur-deficient hair) is a marker for several
autosomal recessive neurocutaneous syndromes with neurological manifestations
and mental retardation. In Tay syndrome, the trichothiodystrophy is accompanied
by congenital ichthyosis, short stature, delayed physical and mental development
a... |
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, ac... | The proteins of homeobox (HOX) genes are transcription regulators involved in
cell type-specific differentiation and patterning of the body plan in
vertebrates. Particularly, the HOXD family is involved in limb formation in mice
and chicks. There is also some evidence that the HOXD9 gene, a member of the
HOXD famil... |
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... | Using the NEO Personality Inventory (NEO-PI), we evaluated caregivers'
perceptions of personality prior to symptom onset and current personality in 36
individuals with a clinical diagnosis of dementia of the Alzheimer's type (DAT).
Caregivers also completed the self form of the NEO-PI and an index of objective
and ... |
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. | BACKGROUND: Target of rapamycin inhibitors (TOR-I) have a novel mode of action
but uncertain clinical role. We performed a systematic review of randomized
trials where immunosuppressive regimens containing TOR-I were compared with
other regimens as initial therapy for kidney transplant recipients.
METHODS: Databases... |
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. | BACKGROUND: To elucidate mechanisms involved in multiple sclerosis (MS), we
studied genetic regulation of experimental autoimmune encephalomyelitis (EAE) in
rats, assuming a conservation of pathogenic pathways. In this study, we focused
on Eae23, originally identified to regulate EAE in a (LEW.1AV1xPVG.1AV1)F2
cros... |
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). | The t(11.22)(q24.q12) results in expression of a chimeric RNA product, EWS-FLI1.
This RNA product is expressed in over 85% of tumours belonging to the Ewing's
family, and is increasingly used as a definitive characteristic of these
tumours. In this study, we evaluated reverse transcriptase-polymerase chain
(RT-PCR)... |
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. | Cohesin is required to prevent premature dissociation of sister chromatids after
DNA replication. Although its role in chromatid cohesion is well established,
the functional significance of cohesin's association with interphase chromatin
is not clear. Using a quantitative proteomics approach, we show that the STAG1 ... |
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 co... | Protein-protein interactions play a pivotal role in coordinating many cellular
processes. Determination of subcellular localization of interacting proteins and
visualization of dynamic interactions in living cells are crucial to elucidate
cellular functions of proteins. Using fluorescent proteins, we previously
dev... |
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 ven... | Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous autosomal
domit heart disease characterised by left ventricular hypertrophy in the
absence of another cardiac or systemic disease that is capable of producing
significant wall thickening. Microscopically it is characterised by
cardiomyocyte hypertrophy... |
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... | The Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial
abnormalities, broad thumbs, broad big toes and mental retardation as the main
clinical features. Many patients with RTS have been shown to have breakpoints
in, and microdeletions of, chromosome 16p13.3 (refs 4-8). Here we report that
all th... |
What is the function of the viral KP4 protein? | The virally encoded fungal toxin KP4 specifically blocks L-type voltage-gated calcium channels. | Killer toxins are polypeptides secreted by some fungal species that kill
sensitive cells of the same or related species. In the best-characterized cases,
they function by creating new pores in the cell membrane and disrupting ion
fluxes. Immunity or resistance to the toxins is conferred by the preprotoxins
(or prod... |
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