question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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What is the function of the AIRE gene at the embryonic stage? | Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells. Aire and Deaf1 help regulate the ectopic expression of diverse tissue-specific antigens to establish self-immune tolerance. Knockdown of Aire in mouse ESCs resulted in significantly decreased clone-forming effici... | The negative selection of T cells in the thymus is necessary for the maintece
of self tolerance. Medullary thymic epithelial cells have a key function in this
process as they express a large number of tissue-specific self antigens that are
presented to developing T cells. Mutations in the autoimmune regulator (AIRE)... |
What is the principle of the PAR-CLIP methodology? | In particular, PAR-CLIP utilizes a photoactivatable nucleoside for more efficient crosslinking. A recent method, PAR-CLIP, uses photoreactive nucleosides to crosslink RBPs to target RNAs in cells prior to immunoprecipitation. One characteristic feature of cDNA libraries prepared by PAR-CliP is that the precise positi... | RNA transcripts are subject to posttranscriptional gene regulation involving
hundreds of RNA-binding proteins (RBPs) and microRNA-containing
ribonucleoprotein complexes (miRNPs) expressed in a cell-type dependent fashion.
We developed a cell-based crosslinking approach to determine at high resolution
and transcript... |
Which drugs are utilized to treat amiodarone-induced thyroitoxicosis? | Amiodarone-induced thyrotoxicosis treatment includes anti-thyroid drugs and steroid therapy
Radio Iodine Treatment (RIT) may be a safe and useful method of AIT therapy in patients with low RAIU, in whom other treatment methods are contraindicated.
Lithium is a useful and safe medication for treatment of iodine-induced ... | Treatment of amiodarone-induced thyrotoxicosis (AIT) with thionamide, lithium or
radioactive iodine is ineffective. This particular form of hyperthyroidism is
long-lasting because of the slow elimination of amiodarone. Therefore, an
alternative therapy is necessary, especially for patients who need to continue
perm... |
How is spastic diplegia diagnosed? | Diagnosis of spastic diplegia is mainly carried out with through clinical gait analysis (CGA), with variations such as 1-minute walk, LSU, and 10-meter walk tests, or Gross Motor Function Measure-88 (GMFM-88). Other methods used for evaluation of patients include brain magnetic resonance imaging (MRI) and motor functio... | Leg movements in the supine position of 49 infants with spastic diplegia (three
to 11 months corrected age) were examined. Only simultaneous flexion and
extension of the hips and knees were seen, with exceptional isolated hip
movements; the simultaneous movements had synergic features. When the knees were
flexed, t... |
Which is the genetic defect causing Neurofibromatosis type 1? | Neurofibromatosis type 1 (NF1) is due to all types of mutations in the neurofibromin (NF1) gene. | The locus for the gene causing neurofibromatosis type 1 (NF1) was bracketed to a
region on the long arm of chromosome 17 by means of genetic linkage analysis.
When the limits of resolution for genetic mapping were reached physical mapping
methods were used to map the NF1 gene precisely, with reference to translocati... |
Which is the human selenoprotein that contains several Se-Cys residues? | Selenoprotein P, that contains 10 selenocysteines. | When cDNA containing proteins enriched in the bovine cerebellar cortex were
cloned, a clone which seemed to encode a selenoprotein P-like protein was
isolated. The coding nucleotide sequence of its cDNA insert displayed high
homology to rat and human selenoprotein P cDNA but contained 12 rather than 10
TGAs (12 rat... |
Which package is available for analysing genomic interactions in R/Bioconductor? | r3Cseq is an R/Bioconductor package designed to perform 3C-seq data analysis in a number of different experimental designs. The package reads a common aligned read input format, provides data normalization, allows the visualization of candidate interaction regions and detects statistically significant chromatin interac... | The coupling of chromosome conformation capture (3C) with next-generation
sequencing technologies enables the high-throughput detection of long-range
genomic interactions, via the generation of ligation products between DNA
sequences, which are closely juxtaposed in vivo. These interactions involve
promoter regions... |
How many clinical trials for off-label drugs in neonates are cited in the literature. | There are no reports on clinical trials of off-label drugs in neonates. An analysis of Pediatric Investigation Plans submitted between 2007 and 2010 shows that neonates were included in the study of 4 products, but it is unknown if the trial drugs are off-label and if the trials are being conducted at all. | |
Are stress granules involved in the pathogenesis of Amyotrophic Lateral Sclerosis? | Stress granules are cytoplasmic inclusions that repress translation of a subset of RNAs in times of cellular stress, and several proteins implicated in neurodegeneration (i.e. Ataxin-2 and SMN) interact with stress granules. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. ... | Mutations in fused in sarcoma (FUS) are a cause of familial amyotrophic lateral
sclerosis (fALS). Patients carrying point mutations in the C-terminus of FUS
show neuronal cytoplasmic FUS-positive inclusions, whereas in healthy controls,
FUS is predomitly nuclear. Cytoplasmic FUS inclusions have also been
identified... |
Does TGF-beta play a role in cardiac regeneration after myocardial infarction? | TGFβ signaling orchestrates the beneficial interplay between scar-based repair and cardiomyocyte-based regeneration to achieve complete heart regeneration. | Members of the transforming growth factor beta1 (TGF-beta) superfamily--namely,
TGF-beta and BMP2--applied to undifferentiated murine embryonic stem cells
up-regulated mRNA of mesodermal (Brachyury) and cardiac specific transcription
factors (Nkx2.5, MEF2C). Embryoid bodies generated from stem cells primed with
the... |
Is there a genetic component for happiness? | Results of studies on genetic factors indicated an average effectiveness of genetic about 35 -50 percent on happiness. The MAOA gene predicts happiness in women. The heritability of happiness was estimated at 22% for males and 41% in females. | Although there is considerable evidence linking success -- including wealth,
marriage, and friendships -- to happiness, this relationship might not reflect,
as is often assumed, the effects of the proximate environment on well-being.
Such an interpretation is contravened by evidence that both happiness and the
envi... |
What enzyme is inhibied by Opicapone? | Opicapone is a novel catechol-O-methyltransferase (COMT) inhibitor to be used as adjunctive therapy in levodopa-treated patients with Parkinson's disease | BACKGROUND AND OBJECTIVES: Opicapone is a novel catechol-O-methyltransferase
(COMT) inhibitor. The purpose of this study was to evaluate the tolerability,
pharmacokinetics (including the effect of food) and pharmacodynamics (effect on
COMT activity) following single oral doses of opicapone in young healthy male
vol... |
What kind of affinity purification would you use in order to isolate soluble lysosomal proteins? | The rationale for purification of the soluble lysosomal proteins resides in their characteristic sugar, the mannose-6-phosphate (M6P), which allows an easy purification by affinity chromatography on immobilized M6P receptors. | The lysosomal compartment of human monocytic cells has never been investigated
by a proteomic approach. By a combination of one-dimensional (1-D) and
two-dimensional (2-D) gel electrophoresis, protein identification by N-terminal
sequencing, matrix assisted laser desorption/ionization-mass spectrometry
(MALDI-MS) p... |
Which are the genes thought to be regulated by EWS/FLI? | The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor. EWS/FLI dysregulates gene expression during tumorigenesis by abnormally activating or repressing genes. The expression levels of a significant number of genes are affected in Ewing sarcoma, some of... | One hallmark of Ewing's sarcoma/peripheral neuroectodermal tumors is the
presence of the Ews/Fli-1 chimeric oncogene. Interestingly, infection of
neuroblastoma tumor cell lines with Ews/Fli-1 switches the differentiation
program of neuroblastomas to Ewing's sarcoma/peripheral neuroectodermal tumors.
Here we examine... |
Do archaeal genomes contain one or multiple origins of replication? | Some archaea replicate from single origins but most archaea and all eukaryotes replicate using multiple origins. | Halobacterium halobium contains two gas vacuole protein genes that are located
in plasmid pHH1 (p-vac) and in the chromosomal DNA (c-vac). The mutation
frequency for these genes is different: the constitutively expressed p-vac gene
is mutated with a frequency of 10(-2), while the chromosomal gene expressed in
the s... |
Which pathological conditions are caused by mutations in the CYLD gene? | Since loss of CYLD expression can be observed in different types of human cancer, it is now well established that CYLD acts as a tumor suppressor gene. Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. CY... | Familial cylindromatosis (turban tumor syndrome; Brooke-Spiegler syndrome) (OMIM
numbers 123850, 132700, 313100, and 605041) is a rare autosomal domitly
inherited tumor syndrome. The disorder can present with cutaneous adnexal tumors
such as cylindromas, trichoepitheliomas, and spiradenomas, and tumors preferably
d... |
Which is the genetic basis of Spinal Muscular Atrophy (SMA)? | The molecular genetic basis of spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (SMN1). Mutations of the SMN1 gene are responsible for SMA. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular... | Amyotrophic lateral sclerosis (ALS) is found in a familial form in around 5-10%
of cases. Of these familial cases around 20% are associated with mutations of
SOD-1. The genetic basis of the disease in the remaining familial cases, and
genetic risk factors in sporadic cases, are unknown. Recently, the common forms
o... |
Which are the common symptoms of Cushing's syndrome? | Cushing syndrome is the constellation of signs and symptoms caused by protracted exposure to glucocorticoids. Presenting features commonly include weight gain, growth retardation, hirsutism, obesity, striae, acne and hypertension. | CONTEXT: Carney complex (CNC), a familial multiple neoplasm syndrome with
domit autosomal transmission, is characterized by tumors of the heart, skin,
endocrine and peripheral nervous system, and also cutaneous lentiginosis. This
is a rare syndrome and its main endocrine manifestation, primary pigmented
nodular adr... |
Which is the third subunit of the TSC1-TSC2 complex upstream of mTORC1? | TBC1D7 was identified as a stably associated and ubiquitous third core subunit of the TSC1-TSC2 complex. It was demonstrated that TSC1-TSC2-TBC1D7 (TSC-TBC) is the functional complex that senses specific cellular growth conditions and possesses Rheb-GAP activity to negatively regulate mTORC1 activity. In agreement with... | |
Which kinase is inhibited by the small molecule KN-93? | The calcium/calmodulin-dependent protein kinase-II (CaMK-II) is inhibited by the small molecule KN-93. KN-93 is a membrane-permeant calcium/calmodulin- dependent kinase II (CaMK-II)-selective inhibitor | We reported that one of the isoquinolinesulfonamide derivatives, KN-62, is a
potent and specific inhibitor of Ca2+/calmodulin-dependent protein kinase II
(CaMKII) (Tokumitsu, H., Chijiwa, T., Hagiwara, M., Mizutani, A., Terasawa, M.
and Hidaka, H. (1990) J. Biol. Chem. 265, 4315-4320). We have now investigated
the ... |
What is the effect of Chk2 splice variants on wild-type Chk2 kinase activity? | Chk2 splice variants have been demonstrated to exert a dominant-negative effect on wild-type Chk2 kinase activity. | While the majority of RNA transcripts from protein-encoding genes in the human
genome are subject to physiological splicing, pathological splicing is
increasingly reported in cancer tissue. Previously, we identified >90 different
splice variants of Chk2, a gene encoding a serine/threonine kinase propagating
the DNA... |
List genes that have been found mutated in CMT1A (Charcot-Marie-Tooth disease type 1 A). | PMP22 is the common gene found mutated through a duplication in CMT1A. Other genes are
MPZ and SH3TC2 | Charcot-Marie-Tooth (CMT) diseases include a group of clinically heterogeneous
inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and
intermediate CMT forms. CMTs are associated with different genes, although
mutations in some of these genes may cause both clinical pictures. To date, more
th... |
Which viruses are best known to cause myocarditis? | The most frequent viruses causing myocarditis are Enterovirus, Adenovirus and Coxsackie B viruses. | The results are presented of serological tests by the neutralization method for
antigens of Coxsackie B group, and by the haemagglutination inhibition method
for three types of parainfluenza and sporadic influenza virus in 529 patients
with myocarditis. In 7 cases the virus was isolated from stools. Virus aetiology ... |
Which genes have been associated with Cerebral Cavernous Malformation? | Loss-of-function mutations in genes encoding CCM1 (also known as KRIT1), CCM2 (also known as OSM and malcavernin) or CCM3 (also known as PDCD10) cause cerebral cavernous malformations (CCMs). | Mutations in the Kritl gene have been recently discovered as the cause of
hereditary cerebral cavernous angioma. We sought the possibility that de novo,
noninherited mutations of Kritl also cause cavernous angioma. A patient with two
cerebral malformations carries a heterozygous deletion of two base pairs
(741delTC... |
Is DITPA a thyroid hormone analog utilized in experimental and clinical studies | There is very large body of evidence that DITPA is a true thyroid hormone analog, largely utilized in experimental and clinical studies. | The possibility that thyroid hormone or a thyroid hormone analogue that improves
cardiac performance might be useful in the treatment of heart failure has-been
examined. In the rat postinfarction model of heart failure, treatment with low
doses (1.5 micrograms/100 g) of thyroxine (T4) for 3 days produced a positive ... |
What is Tarlov Cyst? | Tarlov or perineural cysts are nerve root cysts found most commonly at the sacral spine level arising between covering layers of the perineurium and the endoneurium near the dorsal root ganglion and are usually asymptomatic. | We report the case of a 40-year-old man remitted to our department with a
history of lower back pain and sciatica with no history of trauma. The
laboratory analyses showed normal values whereas plain radiographs showed a
sacrum rarefaction area. A 99mTc-MDP bone scintigraphy was performed to evaluate
the lumbosacra... |
What are 'vildagliptin', 'sitagliptin', 'saxagliptin', 'alogliptin', 'linagliptin', and 'dutogliptin'? | "Sitagliptin," "vildagliptin," "saxagliptin," "alogliptin," "linagliptin," and "dutogliptin" are dipeptidyl peptidase-4 (DPP-4) inhibitors. | Vildagliptin is a dipeptidyl peptidase-4 (DPP-4) inhibitor that is being
evaluated in the treatment of patients with type 2 diabetes mellitus. It
improves glycaemic control by inhibiting DPP-4 from inactivating the incretin
hormones glucagon-like peptide-1 and glucose-dependent insulinotropic
polypeptide, prolongin... |
Which is the most important prognosis sub-classification in Chronic Lymphocytic Leukemia? | The mutational status of the immunoglobulin heavy variable (IGHV) genes, defines two subsets: mutated and unmutated CLL. Unmutated CLL patients show a shorter progression-free and overall survival than mutated CLL patients. | The ataxia telangiectasia mutated (ATM) protein is the principal activator of
the p53 protein in the response to DNA double-strand breaks. Mutations in the
ATM gene have been previously found in B-cell chronic lymphocytic leukemias
(B-CLLs) but their clinical significance is unknown. We analyzed 155 CLL tumors
and ... |
Is MammaPrint cleared by the United States Food and Drug Administration? | Yes. MammaPrint is cleared by the FDA for breast cancer recurrence. | BACKGROUND: Numerous studies have used microarrays to identify gene signatures
for predicting cancer patient clinical outcome and responses to chemotherapy.
However, the potential impact of gene expression profiling in cancer diagnosis,
prognosis and development of personalized treatment may not be fully exploited
... |
Is amantadine effective for treatment of disorders conciousness? | Amantadine, a dopaminergic agent, has been shown to be effective for induction of recovery from disorders of consciousness. Amantadine is a commonly prescribed medication for patients with prolonged disorders of consciousness after traumatic brain injury. Amantadine accelerates the pace of functional recovery during ac... | OBJECTIVES: To develop predictive models of recovery from the vegetative state
(VS) and minimally conscious state (MCS) after traumatic brain injury (TBI) and
to gather preliminary evidence on the impact of various psychotropic medications
on the recovery process to support future randomized controlled trials. Desig... |
What is needed for MMP proteins to be functional? | Extracellular matrix metalloproteinases (MMPs) are a family of zinc-dependent neutral endopeptidases. | Extracellular matrix metalloproteinases (MMPs) are a family of endopeptydases
which recquire a zinc ion at their active site, for proteolityc activity. There
are six members of the MMP family: matrilysins, collagenases, stromelysins,
gelatinases, membrane MMPs and other MMPs. Activity of MMPs is regulated at the
le... |
What is hyperosmia | Hyperosmia is increased olfactory acuity | Hyperosmia is increased olfactory acuity, and hypoosmia is diminished olfactory
acuity. Anosmia, the inability to recognize odors, may be unilateral or
bilateral. Dysosmia is an abnormal sense of smell. We investigated everyday odor experiences in 55 people (14-75 years old) who
rated their sense of smell as far bet... |
What is the number of long non coding RNAs in the human genome | Different estimates put currently the number of human long non coding RNAs between 10,000 and 20,000 | Long noncoding RNAs (lncRNAs) have been detected in nearly every cell type and
found to be fundamentally involved in many biological processes. The
characterization of lncRNAs has immense potential to advance our comprehensive
understanding of cellular processes and gene regulation, along with implications
for the ... |
Which is the most known bacterium responsible for botulism (sausage-poisoning)? | Botulism is a severe neuroparalytic disease caused by botulinum neurotoxin (BoNT), and affects humans, all warm-blooded animals, birds, and some fishes. Botulinum toxin is produced under anaerobic conditions by the bacterium Clostridium botulinum, which is the most known etiological agent of the disease, and some other... | Botulinumtoxin (BTX) is a neurotoxin produced from Clostridium botulinum under
anaerobic conditions and is responsible for botulism, a notifiable, bacterial
form of food poisoning. The first case of botulism is believed to have occurred
in 1735. An epidemic in Southern Germany in 1793 claimed the death of over the
... |
What is the association of spermidine with α-synuclein neurotoxicity? | Spermidine protects against α-synuclein neurotoxicity. In the fruit fly, simple feeding with spermidine inhibited loss of climbing activity and early organismal death upon heterologous expression of human α-synuclein, which is thought to be the principal toxic trigger of Parkinson's Disease (PD). In this line, administ... | As our society ages, neurodegenerative disorders like Parkinson`s disease (PD)
are increasing in pandemic proportions. While mechanistic understanding of PD is
advancing, a treatment with well tolerable drugs is still elusive. Here, we show
that administration of the naturally occurring polyamine spermidine, which
... |
List symptoms of 4H leukodystrophy. | Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are major symptoms of 4H leukodystrophy. | AIM: To report one patient with slowly progressive encephalopathy, ataxia,
central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H
syndrome. This clinical picture has been described recently and there are only
four patients reported previously.
CASE REPORT: A girl with a previously normal early... |
What is the extracellular core "matrisome"? | The "matrisome" is defined as the ensemble of extracellular matrix proteins (ECM) proteins and associated factors. The core matrisome have been defined in mammals through the analysis of whole genome sequences and comprises of ~ 300 proteins. | Completion of genome sequences for many organisms allows a reasonably complete
definition of the complement of extracellular matrix (ECM) proteins. In mammals
this "core matrisome" comprises ∼300 proteins. In addition there are large
numbers of ECM-modifying enzymes, ECM-binding growth factors, and other
ECM-associ... |
Is GAGA associated with nucleosome-free regions (NFR)? | The GAGA factor is a protein known to be involved in the formation and/or maintenance of nucleosome-free regions of chromatin. The interactions of GAGA factor and heat shock factor with their binding sites in chromatin occurred in two modes. Their interaction with binding sites in the nucleosome-free regions did not re... | The chromatin structure at the Drosophila hsp26 promoter in vivo is
characterized by two DNase I-hypersensitive (DH) sites harboring regulatory
elements. Proximal and distal DH sites are separated by a positioned nucleosome.
To study the contribution of transcription factors to the establishment of this
specific ch... |
Which are the plant DNA (cytosine-5) methyltransferase families? | The plant DNA (cytosine-5)methyltransferases are classified into the families: MET, CMT, and the de novo DRM. | Using the 1kb 3' terminal DNA fragment of the mouse methyltransferase cDNA as a
probe and low stringent hybridisation conditions, a new potential
methyltransferase (MTase) gene family was isolated from an Arabidopsis thaliana
genomic DNA library. One clone (MTase-11), which gave the strongest signal at
the Northern... |
Where is the histone variant CENPA preferentially localized? | Centromere protein A (Cenpa for mouse, CENP-A for other species) is an essential histone H3-like protein that localizes to the centromeric region of eukaryotic chromosomes, where it replaces conventional histone H3 and together with centromere-specific-DNA-binding factors directs the assembly of active kinetochores. | We have determined the genomic structure and organization of the mouse Cenpa and
Cenpc genes. CENPA is a member of the histone H3-like proteins and is thought to
replace histone H3 in centromeric nucleosomes. CENPC is a DNA-binding protein
that is located at the inner kinetochore plate of active mammalian centromere... |
In which proteins is the chromodomain present? | The chromodomain (chromatin organizer modifier domain) is a highly conserved motif, 40-50 amino acids in length, present in a wide range of animal and plant proteins involved in chromatin organization. Chromodomain-containing proteins can be classified into boader families based, particularly, on the presence of other ... | Two overlapping cDNAs that encode a 197-kDa sequence-selective DNA-binding
protein were isolated from libraries derived from mouse lymphoid cell mRNA. In
addition to a DNA-binding domain, the protein contains both a chromodomain,
which occurs in proteins that are implicated in chromatin compaction, and an
SNF2/SWI2... |
What is Genomicus? | Genomicus had been developed as a database and a browser to study gene synteny in modern and ancestral genomes. It allows easy comparative genomic visualization in >150 eukaryote genomes and in four different phyla (Vertebrate, Fungi, Metazoan and Plants). It provides a way to explore spatial information related to gen... | Comparative genomics remains a pivotal strategy to study the evolution of gene
organization, and this primacy is reinforced by the growing number of full
genome sequences available in public repositories. Despite this growth,
bioinformatic tools available to visualize and compare genomes and to infer
evolutionary e... |
Is amiodarone a class I anti-arrhythmic drug? | Although considered to be a class III anti-arrhythmic, amiodarone also has class I, II and IV actions, which gives it a unique pharmacological and anti-arrhythmic profile | Amiodarone has been used as an anti-arrhythmic drug since the 1970s and has an
established role in the treatment of ventricular tachyarrhythmias. Although
considered to be a class III anti-arrhythmic, amiodarone also has class I, II
and IV actions, which gives it a unique pharmacological and anti-arrhythmic
profile... |
Which is the prognostic meaning of delayed enhancement documented in patients hypertrophic cardiomyopathy? | Delayed enhancement by CMR has prognostic value in predicting adverse cardiovascular events among HCM patients, and is associated with cardiovascular mortality, heart failure death, and all-cause mortality in HCM. | Myocardial fibrosis can occur in patients who have hypertrophic cardiomyopathy
in the absence of epicardial coronary disease. In such patients, myocardial
fibrosis has been linked to a poorer prognosis than in those without fibrosis.
Gadolinium-DTPA delayed-enhancement magnetic resoce imaging (de-MRI)
accurately id... |
What is the COUGER tool? | COUGER takes as input two sets of genomic regions bound by paralogous TFs, and it identifies a small set of putative co-factors that best distinguish the two sets of sequences. | Most transcription factors (TFs) belong to protein families that share a common
DNA binding domain and have very similar DNA binding preferences. However, many
paralogous TFs (i.e. members of the same TF family) perform different regulatory
functions and interact with different genomic regions in the cell. A potenti... |
Are there drugs for Tick-borne Encephalitis? | No drug therapy available today | To assess B-cell function in patients under immunoglobulin (IgG)-replacement
therapy, the non-licensed artificial bacteriophage (ΦX174)-neo-antigen may be
used despite limited availability and experience. Active immunization against
tick-borne encephalitis (TBE) is performed in few European countries. To test
the f... |
Is SLC22A3 expressed in the brain? | Yes, SLC22A3 (organic cation transporter (OCT3)) is widely expressed in various organs in humans, and involved in the disposition of many exogenous and endogenous compounds. Several lines of evidence have suggested that OCT3 expressed in the brain plays an important role in the regulation of neurotransmission. | Organic cation transporters (OCTs) are carrier-type permeases known to
participate in general detoxification functions in peripheral tissues. Previous
in vitro studies have suggested that OCTs ensure Uptake2, a low-affinity,
corticosteroid-sensitive catecholamine removal system, which was characterized
initially in... |
Has the protein TIEG1 been associated with apoptosis? | Yes, TIEG1 (also known as KLF10) seems to play a role in regulating apoptosis. | Transforming growth factor beta(1) (TGF-beta(1))-inducible transcription factors
have recently elicited interest because of their critical role in the regulation
of cell proliferation, differentiation, and apoptosis. We have previously
reported that the TGF-beta(1)-inducible transcription factor, TIEG1, induces
apo... |
Which is the cellular localization of the protein Opa1? | The Opa1 protein localizes to the mitochondria. | Optic atrophy type 1 (OPA1, MIM 165500) is a domitly inherited optic
neuropathy occurring in 1 in 50,000 individuals that features progressive loss
in visual acuity leading, in many cases, to legal blindness. Phenotypic
variations and loss of retinal ganglion cells, as found in Leber hereditary
optic neuropathy (LH... |
Which are the drugs utilized for the burning mouth syndrome? | Dopaminergic drugs should be given in patients with BMS.
Catuama reduces the symptoms of BMS and may be a novel therapeutic strategy for the treatment of this disease.
Capsaicin, alpha-lipoic acid (ALA), and clonazepam were those that showed more reduction in symptoms of BMS.
Treatment with placebos produced a respons... | Burning mouth syndrome is characterized by a burning sensation in one or several
oral structures. Multiple causal factors have been proposed, and reports on
their relative importance are conflicting. Lack of diagnostic criteria,
differences in sampling procedures, incomplete workups, and lack of controlled
studies ... |
Is PTEN involved in follicular thyroid carcinoma? | The PTEN mutation frequency in unselected cases of follicular thyroid carcinoma was 4.8%. | The PTEN (MMAC1/TEP1) tumor suppressor gene was recently isolated and mapped to
human chromosome band 10q23. Homozygous deletions and mutations of PTEN were
observed in cell lines and sporadic cancers of the breast, kidney, and central
nervous system. Germline mutations in PTEN were recently found in Cowden
disease... |
Which genome browser database for DNA shape annotations is available? | The Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape frame... | Many regulatory mechanisms require a high degree of specificity in protein-DNA
binding. Nucleotide sequence does not provide an answer to the question of why a
protein binds only to a small subset of the many putative binding sites in the
genome that share the same core motif. Whereas higher-order effects, such as
... |
What is known about clinical efficacy of ceftriaxone for treatment of amyotrophic lateral sclerosis? | There have been a few case reports to suggest that ceftriaxone can be effective for treatment of amyotrophic lateral sclerosis. However, other case reports did not report clinical benefit of ceftriaxone therapy for ALS. Ceftriaxone has been reported to reduce neuronal damage in amyotrophic lateral sclerosis a through i... | We describe two patients with lateral amyotrophic sclerosis who, after informed
consent, received empirical treatment with intravenous cephtriaxone at a dose of
2 g/24 hours for three weeks, with no positive results. The pharmacokinetics of
this cephalosporin is analyzed, along with the relationship between motor ne... |
What is the relationship between TailorX and Oncotype? | The TAILORx trial uses the Oncotype DX recurrence score to assign estrogen receptor-positive (ER+), node-negative patients to chemotherapy plus hormonal therapy versus hormonal therapy alone. | Novel genetic profiling tests of breast cancer tissue have been shown to be
prognostic for overall survival and predictive of local and distant rates of
recurrence in breast cancer patients. One of these tests, Oncotype DXtrade mark,
is a diagnostic test comprised of a 21-gene assay applied to paraffin-embedded
bre... |
Does strenuous physical activity affect thyroid hormone metabolism? | YES | Serum lipids and thyroxine were determined in 26 men participating in a 90-km
cross-country ski race, before, immediately after, and on the following days.
Serum cholesterol was unchanged immediately after the race, but then fell
significantly and remained low during the observation period. During the race
the fatt... |
Which is the main function of "RNA sponges"? | Natural RNA circles function as efficient microRNA sponges. Recently, miRNA activity has been shown to be affected by the presence of miRNA sponge transcripts, the so-called competing endogenous RNA in humans and target mimicry in plants. | The POU transcription factor OCT4 is a pleiotropic regulator of gene expression
in embryonic stem cells. Recent studies demonstrated that OCT4 is aberrantly
expressed in multiple types of human cancer; however, the underlying molecular
mechanism remains largely unknown. In this study, we report that OCT4-pg4, a
pse... |
Is the gene MAOA epigenetically modified by methylation? | In recent years, the role of epigenetic phenomenon, such as methylation, in mediating vulnerability to behavioral illness has become increasingly appreciated. One prominent locus at which epigenetic phenomena are thought to be in play is the monoamine oxidase A (MAOA) locus.
We conclude that methylation of MAOA may pla... | DNA methylation is a key epigenetic mechanism involved in the developmental
regulation of gene expression. Alterations in DNA methylation are established
contributors to inter-individual phenotypic variation and have been associated
with disease susceptibility. The degree to which changes in loci-specific DNA
methy... |
Which mutations of phopspholamban have been found in patients with cardiomyopathy? | PLN mutation R14del [or c.40_42delAGA(p.Arg14del)] was identified in 12 (12 %) ARVC patients and in 39 (15 %) DCM patients. Another PLN mutation is a T116G point mutation, substituting a termination codon for Leu-39 (L39stop), and it was identified in two families with hereditary heart failure. Hereditary mutants of ph... | Molecular etiologies of heart failure, an emerging cardiovascular epidemic
affecting 4.7 million Americans and costing 17.8 billion health-care dollars
annually, remain poorly understood. Here we report that an inherited human
dilated cardiomyopathy with refractory congestive heart failure is caused by a
domit Arg ... |
Which are the supplemental antioxidant in athletes? | There are several antioxidant supplements belonging to different families, i.e. Vitamins, Polyphenols, alpha-lipoic acid, ubiquinones, n-3- polyunsaturated acids (PUFAs), minerals and others. Nonetheless the widespread use of these supplements, it is still debated their true usefulness, and it is not unanimously advise... | BACKGROUND: A number of clinical trials have successfully been performed using
whey and/or soy proteins in the treatment of many diseases. They both have
antioxidant properties, which appears to be a factor in aerobic physical
performance as well. In addition, these are the most often used supplements that
sportsme... |
Is glycyl-tRNA synthetase gene involved in the development of Charcot-Marie-Tooth disease? | Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot-Marie-Tooth disease, type 2D (CMT2D), predominantly characterized by lower motor nerve degeneration. | Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D
(CMT2D) is caused by domit point mutations in the gene GARS, encoding glycyl
tRNA synthetase (GlyRS). Here we report a domit mutation in Gars that causes
neuropathy in the mouse. Importantly, both sensory and motor axons are affected,
and th... |
Is there any software for automated analysis of FISH images? | FISH is a popular molecular cytogenetic method. The output of a single FISH analysis is a set of several tens or hundreds microscopic images — a single evaluated sample is of roughly 20mm diameter. The goal of an automated evaluation is to replace the subjective evaluation of images by the laboratory technician to achi... | Fluorescence in situ hybridization (FISH) is a molecular diagnostic technique in
which a fluorescent labeled probe hybridizes to a target nucleotide sequence of
deoxyribose nucleic acid. Upon excitation, each chromosome containing the target
sequence produces a fluorescent signal (spot). Because fluorescent spot cou... |
How do histone methyltransferases cause histone modification? | Histone methyltransferases (HMTs) are responsible for the site-specific addition of covalent modifications on the histone tails, which serve as markers for the recruitment of chromatin organization complexes. There are two major types of HMTs: histone-lysine N-Methyltransferases and histone-arginine N-methyltransferase... | The covalent modification of histone tails has regulatory roles in various
nuclear processes, such as control of transcription and mitotic chromosome
condensation. Among the different groups of enzymes known to catalyze the
covalent modification, the most recent additions are the histone
methyltransferases (HMTases... |
Is there an increased risk for cancer in Dyskeratosis Congenita? | People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis | Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome that is
characterized by lacey reticular hyperpigmentation of the skin, dystrophic
nails, mucous membrane leukoplakia and pancytopenia. Diagnosis may be delayed
until clinical signs are apparent. Severe pancytopenia frequently causes early
mor... |
Does MicroRNA-21 (miR-21) contribute to cardiovascular disease? | MicroRNA-21 (miR-21) is a highly expressed microRNA (miRNA) in cardiovascular system. Recent studies have revealed that its expression is deregulated in heart and vasculature under cardiovascular disease conditions such as proliferative vascular disease, cardiac hypertrophy and heart failure, and ischemic heart disease... | MicroRNAs comprise a broad class of small non-coding RNAs that control
expression of complementary target messenger RNAs. Dysregulation of microRNAs by
several mechanisms has been described in various disease states including
cardiac disease. Whereas previous studies of cardiac disease have focused on
microRNAs tha... |
What is the enzymatic activity of the breast cancer associated gene BRCA1? | E3-ubiquitin ligase activity is the only known enzymatic activity of BRCA1, which is mediated by the N-terminal RING finger domain.BRCA1 nuclear transport and ubiquitin E3 ligase enzymatic activity are tightly regulated by the BRCA1 dimeric binding partner BARD1 and further modulated by cancer mutations and diverse sig... | The BRCA1 tumor suppressor gene is expressed in all mammalian cells. Within
these cells, the BRCA1 protein product interacts with several seemingly distinct
nuclear complexes. Proteins within these complexes are potential targets for the
E3-ubiquitin ligase activity associated with BRCA1:BARD1 complexes. Recent
bre... |
List markers for autophagy. | Expression of LC3-II and BECN1 as well as SQSTM1 are used as markers of autophagy activity. | Chlamydia trachomatis is an obligate intracellular bacterium responsible for one
of the most common sexually transmitted diseases. In epithelial cells, C.
trachomatis resides in a modified membrane-bound vacuole known as an inclusion,
which is isolated from the endocytic pathway. However, the maturation process of
... |
Are there any statistical methods for normalizing and identifying differential regions in histone modification ChIP-seq data? | Yes. ChIPnorm is a two-stage statistical method to normalize ChIP-seq data, and to find differential regions in the genome, given two libraries of histone modifications of different cell types. | The advent of high-throughput technologies such as ChIP-seq has made possible
the study of histone modifications. A problem of particular interest is the
identification of regions of the genome where different cell types from the same
organism exhibit different patterns of histone enrichment. This problem turns
out... |
Is CD84 genetically associated with arthritis? | Three members of this gene family, Ly108, Ly9, and CD84, exhibit polymorphisms that strongly influence susceptibility to systemic autoimmunity, notably in mice, but also in some human populations. Our study demonstrates that an allele associated with response to etanercept therapy is also associated with CD84 gene expr... | We performed partial evaluation of pemphigus vulgaris (PV) autoantibody profile
using the protein array technology. The sera from seven patients with acute PV
and five healthy donors were probed for the presence of autoantibodies
characteristic of the organ-non-specific autoimmune disorders rheumatoid
arthritis, lu... |
What is the function of Neu5Gc (N-Glycolylneuraminic acid)? | N-glycolylneuraminic acid (Neu5Gc) is an immunogenic sugar of dietary origin that metabolically incorporates into diverse native glycoconjugates in humans. Humans lack a functional cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) protein and cannot synthesize the sugar Neu5Gc, an innate mammalian sign... | Human heterophile antibodies that agglutinate animal erythrocytes are known to
detect the nonhuman sialic acid N-glycolylneuraminic acid (Neu5Gc). This
monosaccharide cannot by itself fill the binding site (paratope) of an antibody
and can also be modified and presented in various linkages, on diverse
underlying gl... |
Are there any specific antidotes for rivaroxaban? | Currently, there is no specific antidote for rivaroxaban | When a bleeding complication occurs during therapy with heparin or vitamin K
antagonists, there is an option to give a specific antidote. Several new
anticoagulants have been developed that are likely to have some risk of bleeding
complications, for which no specific antidotes are available. Interestingly, it
is un... |
Which metabolite activates AtxA? | Upon infection of a mammalian host, Bacillus anthracis responds to host cues, and particularly to elevated temperature (37°C) and bicarbonate/CO2 concentrations, with increased expression of virulence factors that include the anthrax toxins and extracellular capsular layer. Cultures grown with elevated CO(2) /bicarbona... | Bacillus anthracis plasmid pXO1 carries the structural genes for the three
anthrax toxin proteins, cya (edema factor), lef (lethal factor), and pag
(protective antigen). Expression of the toxin genes by B. anthracis is enhanced
during growth under elevated levels of CO2. This CO2 effect is observed only in
the pres... |
What is the function of 6SRNA in bacteria? | 6S RNA, first described as a ncRNA in E. coli, mimics an open promoter structure, which has a large bulge with two hairpin/stalk structures that regulate transcription through interactions with RNA polymerase. Escherichia coli 6S RNA represents a non-coding RNA (ncRNA), which, based on the conserved secondary structure... | (1) The RNA replicase induced by bacteriophage Qbeta consists of four
non-identical subunits designated as alpha (mol. wt. 74000), beta (mol. wt.
64000), gamma (mol. wt. 47000) and delta (mol. wt. 33000), only one (subunit
beta) of which is specified by the phage genome. (2) Subunit alpha (30 S
ribosomal protein "S... |
Is cytisine superior to nicotine replacement therapy for smoking cessation? | Yes, one clinical trial that directly compared smoking cessation rates with cytisine versus nicotine replacement therapy reported that cytisine was superior to nicotine-replacement therapy in helping smokers quit smoking, but it was associated with a higher frequency of self-reported adverse events. | OBJECTIVES: Cytisine (Tabex) has been licensed in Eastern Europe as an aid to
smoking cessation for 40 years. Cytisine is a partial agonist with high affinity
binding to the alpha4beta2 nicotinic acetylcholine receptor believed to be
central to the rewarding effect of nicotine. There is insufficient information
on ... |
Which amino acid residue appears mutated in most of the cases reported with cadasil syndrome? | CADASIL is caused mostly by missense mutations in the NOTCH3 gene, invariably involving a cysteine residue. | Mutations in NOTCH3 are the cause of cerebral autosomal domit arteriopathy
with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary
angiopathy causing stroke and vascular dementia. All CADASIL mutations
identified so far result in the loss or gain of one cysteine residue within
epidermal growth fac... |
Which syndromes are associated with mutations in the EZH2 gene? | EZH2 mutations that cause Weaver syndrome are primarily missense variants and the rare truncating mutations reported to date are in the last exon, suggesting that simple haploinsufficiency is unlikely to be generating the overgrowth phenotype although the exact mechanism has not yet been determined. Recent studies have... | The EZH2 gene is a homolog of the Drosophila Polycomb group (PcG) gene enhancer
of zest, a crucial regulator of homeotic gene expression. Several lines of
evidence suggest a critical role for the EZH2 protein during normal and
perturbed development of the haematopoietic and central nervous systems. Indeed,
the EZH2... |
Which databases exist for experimentally determined topologies of α-helical transmembrane proteins ? | ExTopoDB and TMPDB. | TMPDB is a database of experimentally-characterized transmembrane (TM)
topologies. TMPDB release 6.2 contains a total of 302 TM protein sequences, in
which 276 are alpha-helical sequences, 17 beta-stranded, and 9 alpha-helical
sequences with short pore-forming helices buried in the membrane. The TM
topologies in TM... |
Which disease is characterized by congenital absence of intrinsic ganglion cells of the gastrointestinal tract? | Hirschsprung disease (HSCR, aganglionic megacolon) is a common congenital malformation leading to bowel obstruction, with an incidence of 1/5,000 live births. It is characterized by the absence of intrinsic ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract. | Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000
newborns) of unknown origin characterized by the absence of parasympathetic
intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion
of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic
aganglionosis, ... |
What is the disease in which patients are sensitive to DNA crosslinking agents, presenting with a high frequency of chromosomal aberrations? | Fanconi anemia (FA) is an autosomal disorder that causes genome instability and manifests by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromosomal aberrations. | Though the roles of some specific DNA lesions in the production of chromosomal
aberrations is clearly established, those of others remain unclear. While the
study of aberration production in human genetic DNA repair deficiency diseases
has been extremely rewarding already, eukaryotic repair systems are obviously
co... |
How is oprozomib administered? | Oprozomib is administered orally. | Proteasome inhibitors (PIs), namely bortezomib, have become a cornerstone
therapy for multiple myeloma (MM), potently reducing tumor burden and inhibiting
pathologic bone destruction. In clinical trials, carfilzomib, a next generation
epoxyketone-based irreversible PI, has exhibited potent anti-myeloma efficacy
and... |
What is a Caveolae? | Caveolae, plasma membrane invaginations of 60-80nm in diameter, are a subset of lipid rafts enriched in cholesterol and sphingolipids. | Caveolae or membrane vesicles are commonly observed in smooth and skeletal
muscle as well as in working heart muscle. Using sections of fixed tissue and
replicas of freeze-cleaved material, we show in this study that caveolae are
also very numerous in sinus node cells of the rabbit, and to a lesser degree, in
the a... |
Which are the roles of chromatin compartments in the eukaryotic nucleus? | The complexity in composition and function of the eukaryotic nucleus is achieved through its organization in specialized nuclear compartments. Chromosome conformation capture approaches have shown that interphase chromatin is partitioned into spatially segregated Mb-sized compartments and sub-Mb-sized topological domai... | Nuclear elimination accompanies differentiation in such specialized cell types
such as erthyrocytes and lens fibre cells. It also accompanies apoptosis which
has suggested that similar processes could operate in both. Denucleation occurs
in the lens in order to reduce light scatter and this process is often disrupte... |
Is the abnormal dosage of ultraconserved elements disfavored in cancer cells? | No. Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells. | Ultraconserved elements (UCEs) are strongly depleted from segmental duplications
and copy number variations (CNVs) in the human genome, suggesting that deletion
or duplication of a UCE can be deleterious to the mammalian cell. Here we
address the process by which CNVs become depleted of UCEs. We begin by showing
th... |
Does thyroid hormone regulate calcium transient in the myocardium? | YES | The purpose of this study was to determine the influence of thyroid hormone on
tension development and the intracellular calcium transient in mammalian
ventricular muscle. A hyperthyroid (H) state was induced in ferrets by
subcutaneous injection of L-thyroxine, 0.3 mg/kg daily, for 2-3 weeks. One-half
of the age ma... |
What are the biological roles proposed for proteins containing the SPRY domain? | defence against retroviral infection
innate and adaptative immunity
vesicular trafficking
neural differentiation
embryonic development | VASA (VAS), a key protein in establishing the specialized translational activity
of the Drosophila pole plasm, accumulates at the posterior pole of the
developing oocyte. We identified a gene, gustavus (gus), that encodes a protein
that interacts with VAS. A gus mutation blocks posterior localization of VAS, as
doe... |
How could we infer functional associations from gene fusion events? | The detection of gene fusion events across genomes can be used for the prediction of functional associations of proteins, based on the observation that related proteins in one organism (including physically interacting proteins/members of complexes, proteins involved in the same pathway) tend to be found in other speci... | A large-scale effort to measure, detect and analyse protein-protein interactions
using experimental methods is under way. These include biochemistry such as
co-immunoprecipitation or crosslinking, molecular biology such as the two-hybrid
system or phage display, and genetics such as unlinked noncomplementing mutant ... |
The protein NONO forms heterodimers. With which proteins? | The protein NONO forms heterodimers with PSPC1, SFPQ. | P54nrb is a protein implicated in multiple nuclear processes whose specific
functions may correlate with its presence at different nuclear locations. Here
we characterize paraspeckles, a subnuclear domain containing p54nrb and other
RNA-binding proteins including PSP1, a protein with sequence similarity to
p54nrb t... |
Which syndrome is associated with mutant DVL1? | Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. | |
Are proteasome inhibitors good candidates for treatment of leukemia and solid tumors? | Yes, several compounds that inhibit different members of the proteasome pathway (for example Bortezomib) are on trial for treatment of leukemia and solid tumors. It seems that a combination with other drugs may be a useful therapy for solid tumors. | PURPOSE: We performed a phase I study of a day (D) 1 and D4 bortezomib
administration once every 2 weeks to determine the recommended phase II dose and
toxicity profile, and the extent of 20S proteasome inhibition obtained.
PATIENTS AND METHODS: Patients with solid tumors or lymphomas were treated with
bortezomib at... |
Is there any link between CTF4 and CTF18 during sister chromatid cohesion? | Yes. CTF4 and CTF18 are required for high-fidelity chromosome segregation. Both exhibit genetic and physical ties to replication fork constituents. Absence of either CTF4 or CTF18 causes sister chromatid cohesion failure and leads to a preanaphase accumulation of cells that depends on the spindle assembly checkpoint. T... | CTF4 and CTF18 are required for high-fidelity chromosome segregation. Both
exhibit genetic and physical ties to replication fork constituents. We find that
absence of either CTF4 or CTF18 causes sister chromatid cohesion failure and
leads to a preanaphase accumulation of cells that depends on the spindle
assembly c... |
What is the Genomic Regions Enrichment of Annotations Tool (GREAT)? | Genomic Regions Enrichment of Annotations Tool (GREAT) is a tool to analyse the functional significance of cis-regulatory regions identified by localised measurements of DNA binding events across an entire genome. Whereas previous methods took into account only binding proximal to genes, GREAT is able to properly incor... | |
What is the target of the drug Olaparib? | The drug Olaparib target the protein poly(ADP-ribose) polymerase. | Single nucleotide polymorphisms (SNPs) are associated with the development of
certain types of cancer. The present study aimed to investigate the association
between X-ray repair complementing defective repair in Chinese hamster cells 2
(XRCC2) SNPs and colorectal cancer (CRC) cell sensitivity to the
poly(ADP-ribos... |
Are thyroid hormone receptor alpha1 mutations implicated in thyroid hormone resistance syndrome? | The lack of TR alpha1 exacerbates the manifestation of RTH in TR betaPV mice. Therefore, TR alpha1 could play a compensatory role in mediating the functions of T3 in heterozygous patients with RTH | Three novel point mutations at nucleotides 1249, 1282, and 1614 (exons 9 and 10)
of the human thyroid hormone receptor-beta gene were observed in six individuals
affected by the syndrome of resistance to thyroid hormone. All three mutations
occurred in a heterozygous pattern and caused the following changes in the
... |
What is the role of RhoA in bladder cancer? | In urinary bladder cancer, RhoA was more commonly found to be activated in the later stages of the disease. This activation was related to poor tumor differentiation, muscle invasion, lymph node metastasis, and shortened disease-free and overall survival. | PURPOSE: The small GTP-binding protein Rho and its best-characterized downstream
effector Rho-associated serine-threonine protein kinase, ROCK, participate in
actin cytoskeleton organization, and are linked to pathogenesis and progression
of several human tumors. We investigated the roles of Rho and ROCK in bladder ... |
List human proteins that are subject to a dimer-to-tetramer transition. | GAC
SHMT2
AMPAR
Orai1
Orai3 | Most fast excitatory synaptic transmission in the nervous system is mediated by
glutamate acting through ionotropic glutamate receptors (iGluRs). iGluRs (AMPA,
kainate, and NMDA receptor subtypes) are tetrameric assemblies, formed as a
dimer of dimers. Still, the mechanism underlying tetramerization--the necessary
... |
Inhibition of which transporter is the mechanism of action of drug Canagliflozin? | Inhibition of sodium glucose co-transporter 2 (SGLT2) is the major mechanism of action of canagliflozin. Canagliflozin is the first SGLT2 inhibitor to be approved in the USA for the treatment of type 2 diabetes and is under regulatory review in the EU. Other SGLT2 inhibitors include dapagliflozin and empagliflozin. | Hyperglycemia is a defining characteristic of type 2 diabetes mellitus and is a
major risk factor associated with the development of many microvascular
complications. There are numerous therapies currently available to treat
hyperglycemia, but glycemic control rates remain poor. One potential reason is
the decline ... |
What is the prognostic role of thyroid hormone in patients with heart failure? | Altered thyroid profile, particularly sick euthyroid syndrome, is an independent predictor of mortality in patients with chronic heart failure, adding prognostic information to conventional clinical and functional cardiac parameters. | Patients with advanced congestive heart failure are often severely ill and may
experience substantial abnormalities in thyroid hormone metabolism. Thus, we
examined this patient population to determine the prevalence and prognostic
significance of altered thyroid hormone concentrations, the course of thyroid
abnorm... |
which mutations of phospholamban gene have been found to cause hypertrophic cardiomyopathy? | The following mutations of the phospholamban gene have been found to be associated with hypertrophic cardiomyopathy: PLN L39X nonsense mutation; PLN Leu39Ter; PLN -42 C>G and PLN -77A-->G | BACKGROUND: Phospholamban is an endogenous sarcoplasmic reticulum calcium ATPase
inhibitor with a regulatory effect on cardiac contraction/relaxation coupling.
Mutations in the phospholamban gene (PLN) have been associated with primary
cardiomyopathies.
AIMS: To screen for PLN mutations in our population of patients... |
Which gene strand is targeted by transcription-coupled repair (TCR)? | Nucleotide Excision Repair (NER) removes a variety of helix-distorting lesions from DNA. It has two sub-pathways, the global genome (gg) NER and the transcription-coupled repair (TCR). TCR is triggered when a RNA polymerase, translocating along the transcribed strand, is arrested at a lesion or unusual structure in the... | Transcription-coupled repair, the targeted repair of the transcribed strands of
active genes, is defective in bacteria, yeast, and human cells carrying
mutations in mfd, RAD26 and ERCC6, respectively. Other factors probably are also
uniquely involved in transcription-repair coupling. Recently, a defect was
describe... |
Abnormalities in which chromosomes were linked to the Moyamoya disease? | chromosomes 3, 6, 8, 12, 15, 17, 21, X and Y were implicated in the Moyamoya disease. | We report a case of Prader-Willi syndrome (PWS) complicated with juvenile
stroke. The patient is a 19-year-old man with right hemiplegia, who has had a
history of non-insulin-dependent diabetes mellitus (NIDDM) for ten years. The
diagnosis of PWS was confirmed genetically by the method of fluorescence in situ
hybri... |
Which is the branch site consensus sequence in U12-dependent introns? | The branch site consensus sequence in U12-dependent introns is UUCCUUAAC. | Highly conserved sequences at the 5' splice site and branch site of
U12-dependent introns are important determits for splicing by U12-dependent
spliceosomes. This study investigates the in vivo splicing phenotypes of
mutations in the branch site consensus sequence of the U12-dependent intron F
from a human NOL1 (P1... |
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