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Is the transcriptional regulator BACH1 an activator or a repressor? | BACH1, a basic leucine zipper mammalian transcriptional repressor, negatively regulates heme oxygenase 1 (HMOX1), a key cytoprotective enzyme that has antioxidant and anti-inflammatory activities. In the absence of elevated intracellular heme or oxidative stress, BACH1 functions as a repressor of the enhancers of heme ... | Heme oxygenase-1 (HO-1) protects cells from various insults including oxidative
stress. Transcriptional activators, including the Nrf2/Maf heterodimer, have
been the focus of studies on the inducible expression of ho-1. Here we show that
a heme-binding factor, Bach1, is a critical physiological repressor of ho-1.
B... |
Is Kanzaki disease associated with deficiency in alpha-N-acetylgalactosaminidase? | Yes, Kanzaki disease is attributable to a deficiency in alpha-N-acetylgalactosaminidase, which hydrolyzes GalNAcalpha1-O-Ser/Thr. | Schindler disease and Kanzaki disease are caused by a deficient lysosomal
enzyme, alpha-N-acetylgalactosaminidase (E.C.3.2.1.49). Two German children were
first reported in 1987 and other two Dutch children were recently reported in
1993. These children were very similar clinically and characterized by maked
neuroa... |
Is Mycobacterium avium less susceptible to antibiotics than Mycobacterium tuberculosis? | Mycobacterium avium causes disseminated infection in patients with acquired immune deficiency syndrome. M tuberculosis disease is preventable and curable and yet communicable, physicians should maintain a high degree of suspicion for tuberculosis in HIV-infected adults. In comparison, the goal of treating M avium compl... | Mycobacterium avium causes disseminated infection in patients with acquired
immune deficiency syndrome. Mycobacterium tuberculosis is a pathogen associated
with the deaths of millions of people worldwide annually. Effective therapeutic
regimens exist that are limited by the emergence of drug resistance and the
inab... |
What molecule is targeted by suvorexant? | Suvorexant is a dual orexin receptor antagonist for the treatment of sleep onset and sleep maintenance insomnia. | The orexin-1 and orexin-2 receptors are two G protein-coupled receptors that
bind the neuropeptides orexin-A and orexin-B. Dual antagonism of the receptors
by small molecules is clinically efficacious in the treatment of insomnia, where
the most advanced molecule suvorexant has recently been approved. The scope of
... |
For which type of diabetes can empagliflozin be used? | The oral antidiabetes agent, empagliflozin, can be used as monotherapy or alongside other glucose-lowering treatments, including insulin, to treat T2DM. | AIM: This Phase IIb, randomized, double-blind, placebo-controlled trial
evaluated the efficacy, safety, tolerability and pharmacokinetics of
empagliflozin in patients with type 2 diabetes.
METHODS: Four hundred and eight patients (treatment-naïve or after a 4-week
wash-out period) were randomized to receive empaglif... |
Which are the main methods for pharmacophore modelling? | A pharmacophore describes the arrangement of molecular features a ligand must contain to efficaciously bind a receptor. Pharmacophore models are developed to improve molecular understanding of ligand–protein interactions, and can be used as a tool to identify novel compounds that fulfil the pharmacophore requirements a... | Generation of reliable pharmacophore models is a key strategy in drug design.
The quality of a pharmacophore model is known to depend on several factors, with
the quality of the conformer sets used perhaps being one of the most important.
The goal of this study was to compare different conformational analysis method... |
Are there conserved noncoding elements identified between genomes of human and teleosts? | Vertebrate genomes contain thousands of conserved noncoding elements (CNEs) that often function as tissue-specific enhancers. In this study, we have identified CNEs in human, dog, chicken, Xenopus, and four teleost fishes (zebrafish, stickleback, medaka, and fugu) using elephant shark, a cartilaginous vertebrate, as th... | Evolutionary sequence conservation is an accepted criterion to identify
noncoding regulatory sequences. We have used a transposon-based transgenic assay
in zebrafish to evaluate noncoding sequences at the zebrafish ret locus,
conserved among teleosts, and at the human RET locus, conserved among mammals.
Most teleos... |
How early during pregnancy does non-invasive cffDNA testing allow sex determination of the fetus? | Using cffDNA from maternal blood, the fetal gender can be determined as early as 6 to 10 weeks of gestation (during the first trimester of pregnancy). | Fetal sex prediction can be achieved using PCR targeted at the SRY gene by
analysing cell-free fetal DNA in maternal serum. Unfortunately, the results
reported to date show a lack of sensitivity, especially during the first
trimester of pregcy. Therefore, determination of fetal sex by maternal serum
analysis could ... |
Does cortical spreading depression appear in ischemic penumbra following ischemic stroke? | Yes, cortical spreading depression appears in ischemic penumbra following ischemic stroke and is associated with expansion of ischemic injury. This has been shown in humans and in animal models. | The classic concept of the viability thresholds of ischemia differentiates
between two critical flow rates, the threshold of electrical failure and the
threshold of membrane failure. These thresholds mark the upper and lower flow
limits of the ischemic penumbra which is thought to suffer only functional but
not str... |
Is phospholamban a regulatory/inhibitory protein of the Ca ATPase SERCA? | Phospholamban (PLB) is a 24- to 27-kDa phosphoprotein that modulates activity of the sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA). Expression of PLB is reportedly limited to cardiac, slow-twitch skeletal and smooth muscle in which PLB is an important regulator of [Ca2+]i and contractility in these muscles.The membr... | Regulation of the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA 2a) depends on
the phosphorylation state of phospholamban (PLB). When PLB is phosphorylated,
its inhibitory effect towards SERCA 2a is relieved, leading to an enhanced
myocardial performance. This process is reversed by a sarcoplasmic reticulum
(SR)-... |
What is TFBSshape? | To utilize DNA shape information when analysing the DNA binding specificities of TFs, the TFBSshape database was developed for calculating DNA structural features from nucleotide sequences provided by motif databases. The TFBSshape database can be used to generate heat maps and quantitative data for DNA structural feat... | |
Is Alpers disease inherited in an autosomal recessive mode? | Alpers disease is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease. | Alpers disease consists of diffuse cerebral degeneration manifested as
developmental delay, seizures, vomiting, and progressive neuromuscular
deterioration, with liver disease and death. We report the clinical course of
the liver disease, histologic progression of the hepatic lesions, and etiologic
investigations i... |
Is vemurafenib effective for hairy-cell leukemia? | Yes, vemurafenib is highly effective in patients with relapsed or refractory hairy-cell leukemia. | The paper describes a case of a patient with refractory hairy cell leukemia. In
spite of the absence of CD25 expression, the disease was classified as a
classical form according to the WHO classification (2008), as also confirmed by
the detection of BRAFV600E mutation. The disease was characterized by resistance
to... |
Which are the inhibitors of histone methyltransferases? | In general, histone methyltransferases (HMTs) have no widely approved high-throughput screening assay format, and therefore reference inhibitors are not available for many of the HMTs. However, there are several selective HMT inhibitors: Trichostatin A (TSA), BIX-01294 and its derivative TM2-115, 2,4-pyridinedicarboxyl... | A copper-mediated aerobic coupling reaction enables direct amidation of
heterocycles or aromatics having weakly acidic C-H bonds with a variety of
nitrogen nucleophiles. These reactions provide efficient access to many
biologically important skeletons, including ones with the potential to serve as
inhibitors of HMT... |
What is the main characteristic of Amyotrophic Lateral Sclerosis? | Amyotrophic lateral sclerosis (ALS) is a progressive degeneration of upper and lower motor neurons. | There are four main hypotheses about the cause of ALS: excitotoxicity linked to
glutamate receptor overactivation; mutation of the superoxide dismutase gene;
production of autoantibodies to calcium channels; neurofilament accumulation.
The motoneuron degeneration characteristic of ALS could be caused by any one or
... |
Which genes are regulated by MEF-2 in the heart? | COX-2, ANF, estrogen receptor (ER)alpha gene, calsequestrin gene, casq2, cTnT, MCK, alpha-cardiac actin, sarco(endo)plasmic reticulum Ca2+-ATPase, SERCA, MLC-2, alpha-cardiac myosin heavy chain gene, phosphoglycerate mutase and PGAM-M are regulated by MEF-2 in the heart | In order to analyze the transcriptional regulation of the muscle-specific
subunit of the human phosphoglycerate mutase (PGAM-M) gene, chimeric genes
composed of the upstream region of the PGAM-M gene and the bacterial
chloramphenicol acetyltransferase (CAT) gene were constructed and transfected
into C2C12 skeletal ... |
Is there an association between TERT promoter mutation and survival of glioma patients? | Yes, TERT mutation is associated with survival of glioma patients and was suggested as a bio-marker of gliomas. | Frequent mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and the
promoter of telomerase reverse transcriptase (TERT) represent two significant
discoveries in glioma genomics. Understanding the degree to which these two
mutations co-occur or occur exclusively of one another in glioma subtypes
presents ... |
Which JAK (Janus kinase) inhibitor is approved for treatment of rheumatoid arthritis? | Tofacitinib (or CP690.550) is an oral JAK (Janus kinase) inhibitor that is approved for treatment of rheumatoid arthritis. Tofacitinib inhibits JAK family kinase members, in particular JAK1 and JAK3, achieving a broad limitation of inflammation by interfering with several cytokine receptors. Tofacitinib has also a prov... | Treatment of rheumatoid arthritis (RA) has developed dramatically by the
appearance of biologics. However the development of a new anti-rheumatic drug is
necessary because of its issue on route of administration and expense. Recently,
inhibitors targeting tyrosine kinase known as Janus kinase (Jak) has shown
promin... |
Which is the mechanism used for synthesis of a highly functional N-truncated dystrophin isoform that attenuates dystrophinopathy? | Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice | Author information:
(1)1] The Center for Gene Therapy, Nationwide Children's Hospital, The Ohio
State University, Columbus, Ohio, USA. [2].
(2)Section of Microbiology and Medical Genetics, Department of Medical Sciences,
University of Ferrara, Ferrara, Italy.
(3)Department of Proteomics and Nanobiotechnology, School ... |
Which are the newly identified DNA nucleases that can be used to treat thalassemia? | Thalassemia is genetic diseases of the blood caused by mutations in the globin gene. Main goal for thalassemia treatment is to develop homologous recombination based gene therapy in order to cure these diseases. Zinc finger nucleases (ZFNs) and TAL effector nucleases (TALENs) are proper targets for the human globin ge... | DNA mismatch repair (MMR) greatly contributes to genome integrity via the
correction of mismatched bases that are mainly generated by replication errors.
Postreplicative MMR excises a relatively long tract of error-containing
single-stranded DNA. MutL is a widely conserved nicking endonuclease that
directs the exci... |
Does ziconotide bind to N-type calcium channels? | Yes, ziconotide/omega-conotoxin MVIIA blocks N-type calcium channels. | Despite their high sequence homology, the peptide neurotoxins omega-conotoxin
MVIIA and MVIIC selectively block N- and P/Q-type calcium channels,
respectively. To study the recognition mechanism of calcium channel subtypes,
two chimeric analogs of omega-conotoxin MVIIA and MVIIC were synthesized by
exchanging their... |
How is OCT3 associated with serotonin? | OCT3 plays a role in serotonin clearance | The serotonin (5HT) transporter (5HTT) regulates serotonergic neurotransmission
by mediating the reuptake of 5HT from the synaptic cleft. Although lacking the
high affinity and selectivity of the 5HTT, the brain expresses a large number of
other transporters, including the polyspecific organic cation transporters
(... |
What constitutes an increased risk for individuals with Fanconi anemia? | Fanconi anemia is a rare genetic disorder associated with an increased risk of leukemias and solid tumors. | Three patients with Fanconi's anemia were analyzed for chromosome breaks. T and
B cells were separated and grown in tissue culture with PHA and pokeweed antigen
to ascertain the rates of breakage in these lymphocytic subpopulations. It has
been found that there is no statistically significant difference in breakage ... |
Is stop codon bypass possible? | In 1999, proof-of-concept for treating these disorders was obtained in a mouse model of muscular dystrophy, when administration of aminoglycosides restored protein translation by inducing the ribosome to bypass a PTC.
Aminoglycosides can bypass nonsense mutations and are the prototypic agents for translational bypass t... | Expression of the RNA replicase domain of tobacco mosaic virus (TMV) and certain
protein-coding regions in other plant viruses, is mediated by translational
readthrough of a leaky UAG stop codon. It has been proposed that normal tobacco
tyrosine tRNAs are able to read the UAG codon of TMV by non-conventional
base-p... |
Is the protein β1-integrin recycled? | Yes, the β1-integrin is recycled. | Integrin trafficking plays an important role in cellular motility and
cytokinesis. Integrins undergo constant endo/exocytic shuttling to facilitate
the dynamic regulation of cell adhesion. Integrin activity toward the components
of the extracellular matrix is regulated by the ability of these receptors to
switch be... |
Are BBS mutations involved in syndromic Hirschsprung disease? | In 3 families with Bardet-Biedl syndrome (BBS) and Hirschsprung disease (HSCR), concomitant mutations in BBS genes and regulatory RET elements have been identified. Analysis of the data suggests that BBS mutations can potentiate HSCR predisposing RET alleles, which by themselves are insufficient to cause disease. | Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy
characterized by incomplete innervation along a variable length of the gut. The
pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR
also presents in various syndromes, including Shah-Waardenburg syndrome (WS),
Down (DS),... |
Which signaling pathway is activating the dishevelled proteins? | Dishevelled (Xdsh) controls cell fate via canonical Wnt signaling | The Dishevelled protein mediates several diverse biological processes.
Intriguingly, within the same tissues where Xenopus Dishevelled (Xdsh) controls
cell fate via canonical Wnt signaling, it also controls cell polarity via the
vertebrate planar cell polarity (PCP) cascade [1, 2, 3, 4, 5, 6, 7, 8 and 9].
The relat... |
Which is the defective protein causing the lysosomal storage disease Fabry? | Anderson-Fabry disease (referred to as Fabry disease) is an X-linked disorder characterized by a deficiency of the lysosomal enzyme alpha-galactosidase A and the subsequent accumulation in various tissues of globotriaosylceramide (Gb(3)), the main substrate of the defective enzyme. | Human alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A) is the lysosomal
exoglycosidase responsible for the hydrolysis of terminal alpha-galactosyl
residues from glycoconjugates and is the defective enzyme causing Fabry disease
(McKusick 301500). An unusally elevated level of plasma alpha-Gal A activity (>
2.5 times... |
Is there any software for automated analysis of immuno-histochemistry images? | In some studies of breast cancer, quantitation of immunohistochemically highlighted microvessel ‘hot spots’ has been shown to be a powerful prognostic tool. However, the antibody used, the number and size of the ‘hot spots’ assessed, and the stratification of patients into high and low vascular groups vary between stud... | PURPOSE: To develop a fully automated algorithm (AP) to perform a volumetric
measure of the optic disc using conventional stereoscopic optic nerve head (ONH)
photographs, and to compare algorithm-produced parameters with manual
photogrammetry (MP), scanning laser ophthalmoscope (SLO) and optical coherence
tomograph... |
Is TALEN being used on stem cells? | Yes, TALEN is being used on stem cells for genome editing. | The rat is the preferred animal model in many areas of biomedical research and
drug development. Genetic manipulation in rats has lagged behind that in mice
due to the lack of efficient gene targeting tools. Previously, we generated a
knockout rat via conventional homologous recombination in rat embryonic stem
(ES)... |
Is there an association between bruxism and reflux | There is an association between bruxism and reflux. | The purpose of this study was to examine the relationships among nocturnal jaw
muscle activities, decreased esophageal pH, and sleep positions. Twelve adult
volunteers, including 4 bruxism patients, participated in this study. Portable
pH monitoring, electromyography of the temporal muscle, and audio-video
recordin... |
what is the role of IGF-1 in cardiac regeneration after myocardial infarction? | Ischemia-reperfusion injury is a strong stimulus for both global and focal cardiomyocyte progenitor cell marker up-regulations, correlating to the endogenous up-regulation of IGF-1. Furthermore, in an animal model of myocardial infarction, intracoronary administration of IGF-1 is shown to reduce pathological cardiac re... | To determine whether IGF-1 opposes the stimulation of myocyte death in the
surviving myocardium after infarction, transgenic mice overexpressing human
IGF-1B in myocytes (FVB.Igf+/-) and wild-type littermates at 1.5 and 2.5 mo of
age were subjected to coronary ligation and killed 7 d later. Myocardial
infarction in... |
What is known about prostate cancer screening in the UK | Screening for early disease has been available for many years, but there is still no national screening programme established in the United Kingdom. Two systematic reviews have concluded that screening should not be carried out. In general, this recommendation has been accepted in the United Kingdom. | OBJECTIVES: To review evidence regarding the potential introduction of prostate
cancer screening programmes and highlight issues pertinent to the management of
screen-detected prostate cancer.
METHODS: Screening for prostate cancer is a controversial health care issue in
general and urological practice. A PubMed dat... |
Can a peptide aptamer be used as protein inhibitor? | Yes, peptide aptamers can be used as inhibitors. | The p16-cyclin D-pRB-E2F pathway is frequently deregulated in human tumors. This
critical regulatory pathway controls the G1/S transition of the mammalian cell
cycle by positive and negative regulation of E2F-responsive genes required for
DNA replication. To assess the value of the transcription factors E2Fs as
tar... |
List inflammatory caspase proteins? | caspase-1
caspase-4
caspase-5 | INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is a worldwide burden
and a major cause of death. The disease is accompanied by chronic inflammation
and increased cellular turnover that is partly due to an overwhelming induction
of apoptosis. In this study, we hypothesized that systemic markers of apoptos... |
List invertebrates where ultraconserved elements have been identified. | Ultraconserved elements have been identified in the following genomes of invertebrates: tunicates, diptera, worm and yeast. | Recently, we identified a large number of ultraconserved (uc) sequences in
noncoding regions of human, mouse, and rat genomes that appear to be essential
for vertebrate and amniote ontogeny. Here, we used similar methods to identify
ultraconserved genomic regions between the insect species Drosophila
melanogaster a... |
Which gene is most commonly associated with severe congenital and cyclic neutropenia? | Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of severe congenital neutropenia (SCN) and cyclic neutropenia (CN). | Severe neutropenia disorders are characterized by extremely low levels of
peripheral blood neutrophils, a maturation block of bone marrow progenitor cells
and recurring severe bacterial and fungal infections. Recent reports indicated
that severe neutropenia is a consequence of an impaired survival and abnormal
cell... |
what is the role of TGFbeta in cardiac regeneration after myocardial injury? | TGFβ is activated in the myocardium in response to injury and plays a crucial role in cardiac repair by suppressing inflammation while promoting myofibroblast phenotypic modulation and extracellular matrix deposition. In fact, upregulation of TGF-beta signaling promotes the formation of a myofibroblast-like phenotype. ... | Myocardial infarction is the most common cause of cardiac injury and results in
acute loss of a large number of myocardial cells. Because the heart has
negligible regenerative capacity, cardiomyocyte death triggers a reparative
response that ultimately results in formation of a scar and is associated with
dilative ... |
List two chemotherapeutic agents that are used for treatment of Subependymal Giant Cell Astrocytoma | Everolimus and rapamycin are chemotherapeutic agents that are used for treatment of Subependymal Giant Cell Astrocytoma. | The authors present a 21-year-old woman who has been receiving rapamycin for 5
months for bilateral subependymal giant cell astrocytomas. The patient was
started at a dose of 0.2 mg/kg/day. Levels were maintained between 11 and 13
ng/mL. Magnetic resoce imaging of the brain 2(1/2) months after initiating
rapamycin ... |
Are integrins part of the extracellular matrix? | Yes, integrins are a central family of extracellular matrix receptors. | Mechanosensitive ion channels (MSCs) have long been the only established
molecular class of cell mechanosensors; however, in the last decade, a variety
of non-channel type mechanosensor molecules have been identified. Many of them
are focal adhesion-associated proteins that include integrin, talin, and actin.
Mecha... |
Is Calcium homeostasis important in cardiac physiology and pathophysiology? | Calcium homeostasis is very important in cardiac physiology and pathophysiology. Maintenance of cellular calcium homeostasis is critical to regulating cardiac contraction. Abnormalities in calcium homeostasis underlie cardiac arrhythmia, contractile dysfunction and cardiac remodelling. | OBJECTIVE: To compare clinically relevant pharmacokinetic, pharmacodynamic and
toxico logical characteristics of calcium-modulating compounds used in ischemic
heart disease.
DATA SOURCES: A MEDLINE search (1990 pt B to 1991 pt A revised for 1993; 1991 pt
B to 1992 revised for 1993; and January to May 1993) combining... |
List available databases containing information about conserved noncoding elements. | Ancora and TFCONES. | BACKGROUND: Transcription factors (TFs) regulate gene transcription and play
pivotal roles in various biological processes such as development, cell cycle
progression, cell differentiation and tumor suppression. Identifying
cis-regulatory elements associated with TF-encoding genes is a crucial step in
understanding... |
What was the purpose of the FANTOM5 project? | The functional annotation of the mammalian genome 5 (FANTOM5) project provides comprehensive expression profiles and functional annotation of mammalian cell-type-specific transcriptomes with wide applications in biomedical research. The FANTOM5 and ENCODE projects represent two independent large scale efforts to map re... | BACKGROUND: Deciphering the most common modes by which chromatin regulates
transcription, and how this is related to cellular status and processes is an
important task for improving our understanding of human cellular biology. The
FANTOM5 and ENCODE projects represent two independent large scale efforts to map
regu... |
Is the gene DUX4 epigenetically regulated in somatic cells? | The human double-homeodomain retrogene DUX4 is expressed in the testis and epigenetically repressed in somatic tissues. Recent studies provide evidence that DUX4 is expressed in the human germline and then epigenetically silenced in somatic cells. | Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene
encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral
dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the
subtelomeric region of chromosome 4. Although it has been reported that the
deletion of ... |
What is the function of the mammalian gene Irg1? | Human IRG1 and mouse Irg1 mediates antiviral and antimicrobial immune responses, without its exact role having been elucidated. Irg1 has been suggested to have a role in apoptosis and to play a significant role in embryonic implantation. Irg1 is reported as the mammalian ortholog of methylcitrate dehydratase. | Implantation of the developing blastocyst is regulated by multiple effectors,
such as steroid hormones, growth factors, and cytokines. To understand how these
diverse signaling pathways interact to modulate uterine gene expression, we
employed a gene expression screen technique to identify the molecules that are
in... |
Have hESC been tested for the treatment of age-related macular degeneration? | Yes, human embryonic stem cell (hESC) therapies are being assessed for age-related macular degeneration (AMD). | Age-related macular degeneration (AMD) is characterized by the loss or
dysfunction of retinal pigment epithelium (RPE) and is the most common cause of
vision loss among the elderly. Stem-cell-based strategies, using human embryonic
stem cells (hESCs) or human-induced pluripotent stem cells (hiPSCs), may provide
an ... |
What disease in Loxapine prominently used for? | The best indication of loxapine is paranoid schizophrenia. | Since the beginning of the neuroleptics in 1952, French psychiatrists have
proposed a classification of neuroleptics, taking into account the
pharmacological and therapeutic differences between these drugs. They
distinguished 3 different clinical effects of neuroleptics: sedative effects,
effects on the positive sy... |
What is the systemic nickel allergy syndrome? | A severe form of this allergy is the Systemic nickel allergy syndrome, clinically characterized by cutaneous manifestions (contact dermatitis, pompholyx, hand dermatitis dyshydrosis, urticaria) with chronic course and systemic symptoms (headache, asthenia, itching, and gastrointestinal disorders related to histopatholo... | Nickel sensitization can not only induce allergic contact dermatitis (ACD), but
also can induce an overlapping disease referred to as "systemic nickel allergy
syndrome" (SNAS), characterized by urticaria/angioedema and gastrointestinal
symptoms correlated to the ingestion of nickel-containing foods. This study was
... |
Which antibodies cause Riedel thyroiditis? | Riedel thyroiditis (Immunoglobulin G4-related thyroid disease) is caused by IgG4 antibodies. It is part of the spectrum of Ig4-related sclerosing disease.
It is associated with fibrosis and inflammation of the thyroid gland. | Patients with IgG4-related disease (IgG4-RD) typically have elevated serum
concentrations of IgG4 and share histopathologic features that are similar
across affected organ(s). IgG4-RD patients frequently require prolonged
treatment with glucocorticoids and are often unable to taper these medications.
Traditional di... |
What are the effects of ILK ablation? | Depending on the tissue or cell where ILK is ablated we see different effects:
Ablation of ILK in heart results in dilated cardiomyopathy and spontaneous heart failure
Ablation of ILK in fibroblasts leads to impaired healing due to a severe reduction in the number of myofibroblasts
Ablation of ILK in osteoclasts inhibi... | Integrin-linked kinase (ILK) has been implicated in the pathogenesis of
proteinuria and congenital nephrotic syndrome. However, the function of ILK in
glomerular podocyte in a physiologic setting remains unknown. In this study, a
mouse model was generated in which ILK gene was selectively disrupted in
podocytes by ... |
Does d-tubocurarine (d-TC) induces irreversible inhibition of nicotinic acetylcholine receptor (nAChR) at the neuromuscular junction? | The d-tubocurarine is a nondepolarizing neuromuscular blocking agent (nondepolarizing muscle relaxant - NDMR). The nondepolarizing muscle relaxants act by blocking the nicotinic acetylcholine receptors of the neuromuscular junction. The neuromuscular blocking action of tubocurarine is reversible and concentration-depen... | 1. Although (+)-tubocurarine (Tc) is classically considered to be a competitive
antagonist at the neuromuscular junction, kinetic details of the interaction
remain unclear. 2. We studied the competitive action of Tc on the nicotinic
receptor at the frog neuromuscular junction using a quantitative analysis of the
ge... |
Which receptors are bound by Tasimelteon? | Tasimelteon (HETLIOZ™) is an orally bioavailable agonist of the melatonin MT1 and MT2 receptors that has been approved in the US for the treatment of non-24-hour sleep-wake disorder. | Tasimelteon, developed by Vanda Pharmaceuticals Inc under license from
Bristol-Myers Squibb Co, is a melatonin receptor agonist. Because of the high
density of melatonin receptors in the circadian pacemaker, the suprachiasmatic
nucleus, melatonergic actions can phase-shift circadian rhythms and promote
sleep. Tasim... |
Is zyxin a focal adhesion protein? | Yes, zyxin is a focal adhesion protein. | BACKGROUND: SIRT1 is a mammalian homologue of NAD+-dependent deacetylase sirtuin
family. It regulates longevity in several model organisms and is involved with
cell survival, differentiation, metabolism among other processes in mammalian
cells. SIRT1 modulates functions of various key targets via deacetylation.
Rec... |
What is the role of ELMO1 gene in cell migration? | ELMO proteins are also known to regulate actin cytoskeleton reorganization through activation of the small GTPbinding protein Rac via the ELMO-Dock180 complex. In mammalian cells, ELMO1 interacts with Dock180 as a component of the CrkII/Dock180/Rac pathway responsible for phagocytosis and cell migration. We also show ... | The C. elegans genes ced-2, ced-5, and ced-10, and their mammalian homologs
crkII, dock180, and rac1, mediate cytoskeletal rearrangements during
phagocytosis of apoptotic cells and cell motility. Here, we describe an
additional member of this signaling pathway, ced-12, and its mammalian homologs,
elmo1 and elmo2. I... |
What is the biological role of K-48 linked protein ubiquitination? | The proteasome, which identifies and destroys unwanted proteins rapidly, plays a vital role in maintaining cellular protein homeostasis. Proteins that are destined for proteasome-mediated degradation are usually tagged with a chain of ubiquitin linked via lysine (K) 48 that targets them to the proteolytic machinery. K(... | Proteins tagged with lysine (Lys, K) 48 polyubiquitins chains are destined for
degradation by the 26S proteasomal system. Impairment of the ubiquitin
proteasome system (UPS) function culminates in the accumulation of
polyubiquitinated proteins in many neurodegenerative conditions including
Parkinson's disease (PD).... |
Could DNA (cytosine-5-)-methyltransferases serve as tumour markers? | Yes. It has been demonstrated in a number of experimental studies that DNA (Cytosine-5-)-methyltransferases (DNMT1, DNMT3A and DNMT3B) are deregulated in several types of cancer (invasive cervical cancer, colon cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, embryonal carcinoma, cervical cancer, aden... | We evaluated the significance of aberrant DNA methyltransferase 1 (DNMT1)
protein expression during gastric carcinogenesis. The protein expression of
DNMT1, Muc2, human gastric mucin, E-cadherin, and proliferating cell nuclear
antigen was examined immunohistochemically in gastric cancers and corresponding
noncancer... |
Which RNA polymerase is used for the replication of viroids? | DNA-dependent RNA polymerase II of plant origin transcribes viroid RNA into full-length copies | Analysis by molecular hybridization of the RNAs transcribed by a cell-free
fraction from avocado infected with avocado sunblotch viroid (ASBV) demonstrated
the presence of newly synthesized viroid-specific sequences, most of which were
of the same polarity as the mature infectious viroid RNA. Treatment of the
cell-... |
List Parkin binding partners | HSP90
CDC37
GRP75
HSP60
LRPPRC
TUFM
PICK1
PSMA7
Pael receptor | Autosomal recessive juvenile parkinsonism (AR-JP) is caused by mutations of the
parkin gene. Parkin is an E3 ubiquitin ligase that specifically recognizes its
substrate protein, promoting its ubiquitination and subsequent degradation.
Accordingly, we hypothesized that AR-JP may be caused by accumulation of an
unide... |
What is generic name of drug Adempas? | Riociguat is generic name of drug Adempas. It is a soluble guanylate cyclase stimulator that was approved for the treatment of patients with chronic thromboembolic pulmonary hypertension and pulmonary arterial hypertension. | Duavee, an oral contraceptive; riociguat (Adempas) for two types of pulmonary
hypertension; and macitentan (Opsumit) for pulmonary arterial hypertension. Pulmonary hypertension (PH) is a progressive disease that is accompanied by a
poor prognosis. Pulmonary vasoconstriction is facilitated through multiple
pathways a... |
What is known about Vancomycin dosing in neonates? | Staphylococcus epidermis, including methicillin-resistant strains, are inhibited by vancomycin concentrations of 1-4 µg/ml.
Staphylococcus pyogenes, Streptococcus pneumonia, and Streptococcus viridans are susceptible to 2 µg/ml vancomycin.
Bacillus spp. are inhibited by 2 µg/ml, Corynebacterium spp. by 0.04-3.1 µg/ml... | Multidose pharmacokinetics of vancomycin were studied in 15 infants with
gestational age less than 36 weeks and suspected or confirmed Staphylococcus
epidermidis infections. Postconceptional age (PCA) at the time of the study
ranged from 26 to 44 weeks. Vancomycin individual doses ranged from 6.7 to 10.6
mg/kg and ... |
Is single guide RNA part of the CRISPR/Cas9 tool or an inhibitor of its function? | Single guide RNA is part of the CRISPR/Cas9 system. | Prokaryotic type II CRISPR-Cas systems can be adapted to enable targeted genome
modifications across a range of eukaryotes. Here we engineer this system to
enable RNA-guided genome regulation in human cells by tethering transcriptional
activation domains either directly to a nuclease-null Cas9 protein or to an
apta... |
What is the target protein of the drug Idelalisib? | Idelalisib represents a first-in-class specific inhibitor of the phosphoinositol-3 kinase (PI3K) delta isoform. | Normal B lymphocytes receive signals from B-cell antigen receptor (BCR) that are
triggered by binding of the BCR to an external antigen. Tonic signaling through
the BCR provides growth and signals to chronic lymphocytic leukemia (CLL) cells,
and plays an important role in the pathogenesis and progression of the dise... |
Which antiepileptic drug is most strongly associated with spina bifida? | Phenytoin is not used in pregnancy as it is associated with a severe fetal deformation. From the other anticonvulsants most studies report the higher association between use during pregnancy and spin bifida to occur with Valproate. | The distribution of anticonvulsant drug therapy was studied in 318 malformed
infants with known histories of maternal epilepsy. Data on the infants was
collected from six birth defect monitoring programs in Europe and South America.
Use of specific types of anticonvulsants varies widely among reporting
countries. H... |
Which bacteria caused plague? | Yersinia pestis is the causative bacteria of the plague. | Protein tyrosine phosphatases (PTPases) and kinases coregulate the critical
levels of phosphorylation necessary for intracellular signalling, cell growth
and differentiation. Yersinia, the causative bacteria of the bubonic plague and
other enteric diseases, secrete an active PTPase, Yop51, that enters and
suppresse... |
The drug JTV519 is derivative of which group of chemical compounds? | The 1,4-benzothiazepine derivative JTV-519 is a new type of calcium ion channel modulator.JTV-519, which has potential use as an antiarrhythmic [285800]. The drug is a novel cardioprotectant derivative of 1,4-benzothiazepine for which phase I trials were completed in the third quarter of 1998 | BACKGROUND: A new 1,4-benzothiazepine derivative, JTV519, has a strong
protective effect against Ca(2+) overload-induced myocardial injury. We
investigated the effect of JTV519 on ischemia/reperfusion injury in isolated rat
hearts.
METHODS AND RESULTS: At 30 minutes of reperfusion after 30-minute global
ischemia, t... |
Is the long non- coding RNA malat-1 up or downregulated in cancer? | Malat-1 expression is upregulated in several tumor types | In early-stage non-small-cell lung cancer (NSCLC), a substantial proportion of
patients can be cured by surgery. Development of distant metastases is the most
frequent cause of therapeutic failure. The possibility to accurately predict a
patient's risk for developing distant metastasis would help to identify patient... |
Oxantel is used for periodontitis treatment. How does it work? | Oxantel, a cholinergic anthelmintic and fumarate reductase inhibitor, significantly inhibited biofilm formation by P. gingivalis and disrupted established biofilms. | Bacterial pathogens commonly associated with chronic periodontitis are the
spirochete Treponema denticola and the Gram-negative, proteolytic species
Porphyromonas gingivalis and Tannerella forsythia. These species rely on complex
anaerobic respiration of amino acids, and the anthelmintic drug oxantel has been
shown... |
What is apelin? | Apelin, a small regulatory peptide, is the endogenous ligand for the apelin receptor (APJ) receptor. | The adipocytokine apelin is a peptide, Apelin and its receptor are abundantly
expressed in the nervous and cardiovascular systems. Previous studies had found
apelin-13 reduces brain injuries and postischemic cerebral edema through
blocking programmed cell death, Apelin-13 is also able to inhibit glucose
deprivation... |
What is the function of the protein encoded by the gene PABPC4? | The main function of PABPC4 is in mRNA stability and translation initiation. PABPC4 may also play a role in chronic inflammation and in the pathogenesis of colorectal cancer. | In testis mRNA stability and translation initiation are extensively under the
control of poly(A)-binding proteins (PABP). Here we have cloned a new human
testis-specific PABP (PABP3) of 631 amino acids (70.1 kDa) with 92.5% identical
residues to the ubiquitous PABP1. A northern blot of multiple human tissues
hybrid... |
What kind of enzyme is encoded by the proto-oncogene ABL1? | ABL-family proteins comprise one of the best conserved branches of the tyrosine kinases. Each ABL protein contains an SH3-SH2-TK (Src homology 3-Src homology 2-tyrosine kinase) domain cassette, which confers autoregulated kinase activity and is common among nonreceptor tyrosine kinases. This cassette is coupled to an a... | The ABL1 proto-oncogene encodes a cytoplasmic and nuclear protein tyrosine
kinase (c-Abl) that has been implicated in processes of cell differentiation,
cell division, cell adhesion and stress response. Alterations of ABL1 by
chromosomal rearrangement or viral transduction can lead to maligt
transformation. Activit... |
What is the mode of inheritance of Romano Ward long QT syndrome? | The Romano Ward long QT syndrome (LQTS) has an autosomal dominant mode of inheritance. | A family with the Romano-Ward syndrome is presented. This family showed typical
features of this syndrome with QT prolongation, torsades de pointes ventricular
tachycardia, sudden death and an autosomal domit inheritance pattern. The
index case presented with an exacerbation of torsades de pointes ventricular
tachy... |
Which histone modifications have been associated to alternative splicing? | H3K36m3 has been systematically associated to exon inclusion in almost all published studies. Other marks have been associated as well in specific studies to exon expression, but it can not be concluded that the effect of these marks in exon expression it is not a consequence of their effect in gene expression. | Variation in patterns of methylations of histone tails reflects and modulates
chromatin structure and function. To provide a framework for the analysis of
chromatin function in Caenorhabditis elegans, we generated a genome-wide map of
histone H3 tail methylations. We find that C. elegans genes show distributions
of... |
Is phospholamban phosphorylated by Protein kinase A? | Phospholamban (PLB) is a sarcoplasmic reticulum (SR) protein that is phosphorylated at Ser16 by PKA. Phosphorylation of PLB by PKA reverses the inhibitory action of PLB. | Phospholamban, the cardiac sarcoplasmic reticulum proteolipid, is phosphorylated
by cAMP-dependent protein kinase, by Ca2+/phospholipid-dependent protein kinase,
and by an endogenous Ca2+/calmodulin-dependent protein kinase, the identity of
which remains to be defined. The aim of this study was therefore to characte... |
Are there telemedicine applications for chronic pain management? | Yes, telemedicine is feasible and cost-effective for education and therapy of patients with chronic pain. | OBJECTIVES: Telemedicine has been used extensively in various settings,
including monitoring patient treatment response and counseling. However, there
are few data on the application of telemedicine to chronic pain patients. The
present study was the first pilot project to determine whether telemedicine
technology ... |
What is a P-body (processing body)? | Processing bodies (P bodies, PB) are cytoplasmic protein complexes involved in degradation and translational arrest of mRNA. | Serine/arginine-rich splicing factor 3 (SRSF3), a member of the serine/arginine
(SR)-rich family of proteins, regulates both alternative splicing of pre-mRNA
and export of mature mRNA from the nucleus. Although its role in nuclear mRNA
processing is well understood, the mechanism by which it alters the fate of
cyto... |
What is the mechanism of action of decitabine? | Decitabine reactivates unmethylated p21WAF1 in some AML cell lines but the possible occurrence of p21WAF1 methylation in AML in vivo has not been studied in detail and decitabine effects on p21WAF1 chromatin remodeling have not been reported. We also discuss the following questions: What is the best administration sche... | Decitabine is a potent demethylating agent that exhibits clinical activity
against myeloid maligcies. Numerous genes silenced by hypermethylation are
reactivated by decitabine through a mechanism involving promoter demethylation
with subsequent release of histone deacetylases (HDACs) and accumulation of
acetylated ... |
Which gene is associated with the Mitchell-Riley syndrome? | Mutations in the gene coding for the transcription factor RFX6 (regulatory factor X,6) have been described as the cause of the Mitchell-Riley syndrome. | Recently, bi-allelic mutations in the transcription factor RFX6 were described
as the cause of a rare condition characterized by neonatal diabetes with
pancreatic and biliary hypoplasia and duodenal/jejunal atresia. A male infant
developed severe hyperglycemia (446 mg/dL) within 24 h of birth. Acute abdominal
conce... |
Is paramyxovirus involved in human subacute thyroiditis? | There is no evidence that paramyxovirus are involved in etiology of subacute thyroiditis. | New data on viruses isolated from patients with subacute thyroiditis de Quervain
are reported. Characteristic morphological, cytological, some physico-chemical
and biological features of the isolated viruses are described. A possible role
of these viruses in human and animal health disorders is discussed. The isolat... |
What are the mobile applications fields of use for patients ? | Weight-loss mobile applications
pediatric obesity prevention and treatment, healthy eating, and physical activity promotion
A total of 229 dermatology-related apps were identified in the following categories: general dermatology reference (61 [26.6%]), self-surveillance/diagnosis (41 [17.9%]), disease guide (39 [17.0%]... | BACKGROUND: Interactive and mobile technologies (i.e., smartphones such as
Blackberries, iPhones, and palm-top computers) show promise as an efficacious
and cost-effective means of communicating health-behavior risks, improving
public health outcomes, and accelerating behavior change. The present study was
conducte... |
Is there any link between the aurora B kinase and the polycomb protein ring1B? | Yes. The aurora B kinase and the polycomb protein ring1B combine to regulate active promoters in quiescent lymphocytes. | Reversible cellular quiescence is critical for developmental processes in
metazoan organisms and is characterized by a reduction in cell size and
transcriptional activity. We show that the Aurora B kinase and the polycomb
protein Ring1B have essential roles in regulating transcriptionally active genes
in quiescent ... |
Which are the genes responsible for Dyskeratosis Congenita? | To date, 8 genes have been associated with Dyskeratosis Congenita development. These are DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, and TCAB1. Seven of these are important in telomere maintenance, because either they encode components of the telomerase enzyme complex (DKC1, TERC, TERT, NOP10, NHP2, and TCAB1) or th... | Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the
early onset of reticulate skin pigmentation, nail dystrophy, and mucosal
leucoplakia. In over 80% of cases bone marrow failure develops and this is the
main cause of early mortality. The DC1 gene responsible for the X linked form
(MIM 305... |
Is CD99 encoded by MIC2 gene? | CD99 is a 32-kDa transmembrane glycoprotein that is encoded by the MIC2 gene | Monoclonal antibody (MAb) HBA71, which was raised against Ewing's sarcoma cells,
recognizes a cell-surface glycoprotein, p30/32MIC2, that is encoded by the MIC2
gene in the pseudoautosomal region of human chromosomes X and Y. This
immunohistochemical study evaluates the specificity and sensitivity of MAb HBA71
for ... |
Name five programs for transcript quantification from RNASeq experiments | Popular programs for transcript quantification from RNASeq experiments include: Cufflinks, RSEM, Flux Capacitor, Mitie, Miso, Tigar, Montebello, Drut, Traph, Pome, IsoformEx, Neuma, | We propose a novel, efficient and intuitive approach of estimating mRNA
abundances from the whole transcriptome shotgun sequencing (RNA-Seq) data. Our
method, NEUMA (Normalization by Expected Uniquely Mappable Area), is based on
effective length normalization using uniquely mappable areas of gene and mRNA
isoform m... |
What are the main characteristics/symptoms of the "Brugada" syndrome | In 1992, Brugada and Brugada first described a new entity, which became known as Brugada syndrome, that is associated with a high risk of ventricular arrhythmias and sudden cardiac death in patients without structural heart disease. This syndrome is characterized by a distinct electrocardiographic phenotype, type 1 Bru... | In 1992 we described a new syndrome consisting of syncopal episodes and/or
sudden death in patients with a structurally normal heart and a characteristic
electrocardiogram displaying a pattern resembling right bundle branch block with
an ST segment elevation in leads V1 to V3. In 1998 it was described that the
dise... |
What is the main component of the Lewy bodies? | Parkinson's disease (PD) is characterized by the progressive degeneration of substantia nigra pars compacta (SNpc) dopaminergic neurones and the formation of Lewy bodies (LB) in a proportion of the remaining neurones. Alpha-synuclein has been identified as the main component of the Lewy bodies. | alpha-Synuclein and ubiquitin are two Lewy body protein components that may play
antagonistic roles in the pathogenesis of Lewy bodies. We examined the
relationship between alpha-synuclein, ubiquitin, and lipids in Lewy bodies of
fixed brain sections or isolated from cortical tissues of dementia with Lewy
bodies. L... |
How does thyroid hormone regulate mitochondrial biogenesis in the myocardium? | T4 increases myocardial mitochondrial bioenergetic capacity, oxygen consumption and markers of mitochondrial biogenesis. The marked, parallel increases in PPARalpha levels suggest its potential involvement in mediating myocardial-specific remodeling of mitochondria in response to T4. T3 induces mitochondrial biogenesi... | The energy relationships between cytosolic and mitochondrial metabolism were
studied in the hearts from euthyroid, hypothyroid, and hyperthyroid rats.
Isolated mitochondria showed high respiratory control ratios and impermeability
to exogenous NADH. Hypo- and hyperthyroidism, respectively, resulted in lower
and hig... |
What is the link between HOT regions and RNA polymerase recruitment? | Most HOT regions co-localize with RNA polymerase II binding sites, but many are not near the promoters of annotated genes. At HOT promoters, TF occupancy is strongly predictive of transcription preinitiation complex recruitment and moderately predictive of initiating Pol II recruitment, but only weakly predictive of el... | BACKGROUND: High-occupancy target (HOT) regions are compact genome loci occupied
by many different transcription factors (TFs). HOT regions were initially
defined in invertebrate model organisms, and we here show that they are a
ubiquitous feature of the human gene-regulation landscape.
RESULTS: We identified HOT re... |
List variants of the MC1R gene. | V60L
D84E
V92M
R151C
R160W
R163Q
D294H | Several MC1R variants are associated with increased risk of maligt melanoma
(MM) in a variety of populations. We aim to examine the influence of the MC1R
variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous
polymorphism T314T) on the MM risk in a population from the Canary Islands.
Overall, 1,046... |
Which is the enzyme that degrades decapped mRNAs? | The removal of the 5'-cap structure by the decapping enzyme DCP2 and its coactivator DCP1 shuts down translation and exposes the mRNA to 5'-to-3' exonucleolytic degradation by XRN1 | |
Which phenotypes are associated with heterozygous mutations of the BSCL2 gene? | Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. | Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy
(OMIM #182960) is a heterogeneous group of disorders characterized by an almost
exclusive degeneration of motor nerve fibers, predomitly in the distal part
of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary
spastic pa... |
Which is the target protein of the drug nivolumab? | Nivolumab was developed as a monoclonal antibody against programmed death receptor-1, an immune checkpoint inhibitor which negatively regulates T-cell proliferation and activation. | Author information:
(1)Scott N. Gettinger and Mario Sznol, Yale Cancer Center, New Haven, CT; Leora
Horn, David P. Carbone, and Jeffrey A. Sosman, Vanderbilt University Medical
Center; David R. Spigel, Sarah Cannon Research Institute/Tennessee Oncology,
Nashville, TN; Leena Gandhi, David M. Jackman, and F. Stephen H... |
The CXCR2 receptor is targeted in cancer. Name five antagonists. | There are numerous CXCR2 receptor antagonists, such as SB225002, G31P, SCH-527123, AZ10397767, SCH-479833. | Molecular analysis of CCR5, the cardinal coreceptor for HIV-1 infection, has
implicated the N-terminal extracellular domain (N-ter) and regions vicinal to
the second extracellular loop (ECL2) in this activity. It was shown that
residues in the N-ter are necessary for binding of the physiologic ligands,
RANTES (CCL5... |
What is the genomic structure of the FAA (FANCA) gene? | The FAA (FANCA) gene contains 43 exons spanning approximately 80 kb. Exons range from 34 to 188 bp, whereas sequence analysis of the 5' region upstream of the putative transcription start site showed no obvious TATA and CAAT boxes, but did show a GC-rich region, typical of housekeeping genes. | |
What is Snord116? | SNORD116 is a small nucleolar (sno) RNA gene cluster (HBII-85) implicated as a major contributor the Prader-Willi phenotype.
SNORD116 genes appears to be responsible for the major features of PWS.
SNORD116 is a paternally expressed box C/D snoRNA gene cluster.
The mouse C/D box snoRNA MBII-85 (SNORD116) is processed ... | Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by
infantile hypotonia and feeding difficulties in infancy, followed by morbid
obesity secondary to hyperphagia. It is caused by deficiency of paternally
expressed transcript(s) within the human chromosome region 15q11.2. PWS patients
harboring ba... |
What is the functional role of the protein Drp1? | Drp1 is involved in the regulation of mitochondrial fission. | The endoplasmic reticulum (ER) can elicit proapoptotic signalling that results
in transmission of Ca(2+) to the mitochondria, which in turn stimulates
recruitment of the fission enzyme DRP1 to the surface of the organelle. Here, we
show that BH3-only BIK activates this pathway at the ER in intact cells,
resulting i... |
Which is the genetic cause for the development of Fanconi anemia complementation group D1? | Fanconi anemia complementation group D1 (FANCD1) was shown to be induced by biallelic mutations in the BRCA2 breast-cancer-susceptibility gene. | Surprisingly, biallelic mutations in the BRCA2 breast-cancer-susceptibility gene
were found in Fanconi anemia (FA), a rare hereditary disorder characterized by
chromosomal instability, hypersensitivity to DNA cross-linking agents, and
cancer susceptibility. This suggests that a defect in the FA pathway might
predis... |
Which diseases are caused by mutations in Calsequestrin 2 (CASQ2) gene? | CASQ2 mutations are associated with autosomal recessive catecholaminergic polymorphic ventricular tachycardia (CPVT) and familial hypertrophic cardiomyopathy. | Catecholamine-induced polymorphic ventricular tachycardia (CPVT), a rare disease
that occurs in subjects without obvious organic heart disease, is characterized
by episodes of syncope, seizures, or sudden death in response to physiologic or
emotional stress. This report reviews evidence that a missense mutation in t... |
What are the most frequent non-canonical sequence motifs at the donor and acceptor splice sites in vertebrates? | There are two major exceptions to the canonical GT-AG dinucleotides at donor and acceptor sites: the GG-AG splice site pairs, recognized through the typical U2 splicing machinery, and the AT-AC splice pairs recognized by the U12 splicing machinery. | A set of 43 337 splice junction pairs was extracted from mammalian GenBank
annotated genes. Expressed sequence tag (EST) sequences support 22 489 of them.
Of these, 98.71% contain canonical dinucleotides GT and AG for donor and
acceptor sites, respectively; 0.56% hold non-canonical GC-AG splice site pairs;
and the ... |
What does isradipine do to L-type channels? | Isradipine antagonizes/blocks the L-type channels. | Previous studies have shown that 17 beta-estradiol (beta-E2) has a direct acute
inhibitory effect on vascular smooth muscle (VSM) contraction. To investigate
the mechanisms underlying this phenomenon, we utilized whole cell patch-clamping
techniques to study effects of beta-E2 on voltage-dependent Ca2+ channels in
... |
Why does cranberry juice help combat urinary tract infections? | Cranberry products affect the surface properties, such as fimbriae and lipopolysaccharides, and adhesion of fimbriated and nonfimbriated E. coli. | Most research suggests that ingestion of cranberry juice may be useful in
preventing urinary tract infections. This pilot study examines the effect of
drinking moderate amounts of commercially available cranberry juice cocktail on
urinary pH in older, institutionalized adults. The results of the study have
implicat... |
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