question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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Which is the protein encoded by the human gene GRIK? | Glutamate Receptor Ionotropic Kainate | Functional impairment of the orbital and medial prefrontal cortex underlies
deficits in executive control that characterize addictive disorders, including
alcohol addiction. Previous studies indicate that alcohol alters glutamate
neurotransmission and one substrate of these effects may be through the
reconfiguratio... |
Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies? | Alpha-synuclein phosphorylated at serine 129 (S129) is highly elevated in Parkinson's disease patients where it mainly accumulates in the Lewy bodiesApproximately 90% of α-syn deposited in Lewy bodies is phosphorylated at serine 129 (Ser129). In contrast, only 4% or less of total α-syn is phosphorylated at this residue... | The deposition of the abundant presynaptic brain protein alpha-synuclein as
fibrillary aggregates in neurons or glial cells is a hallmark lesion in a subset
of neurodegenerative disorders. These disorders include Parkinson's disease
(PD), dementia with Lewy bodies (DLB) and multiple system atrophy, collectively
ref... |
Is paroxetine effective for treatment of premenstrual dysphoric disorder? | Yes, paroxetine is effective and FDA approved treatment of women with premenstrual dysphoric disorder. A number of well designed clinical trials have confirmed efficacy and safety of both continuous or intermittent regiments of paroxetine for treatment of premenstrual dysphoric disorder. A number of other antidepressa... | Research into the psychobiology of premenstrual dysphoric disorder (PDD) finds
alterations in markers associated with serotonergic neurotransmission.
Supporting this is work showing that patients with PDD respond to some agents
that block the reuptake of serotonin. In this open trial, patients were treated
for one ... |
What is known about thalidomide therapy and survival of glioblastoma patients? | Findings regarding clinical value of thalidomide in terms of survival in patients with glioblastoma remain mixed. It has been shown that thalidomide can improve survival of recurrent glioblastoma patients. However, other authors have not confirmed these findings. Furthermore, thalidomide did not improve survival of new... | PURPOSE: Little progress has been made in the treatment of adult high-grade
gliomas over the last two decades, thus necessitating a search for novel
therapeutic strategies. Maligt gliomas are vascular or angiogenic tumors,
which leads to the supposition that angiogenesis inhibition may represent a
potentially promi... |
Is endostatin a proangiogenic factor? | No, endostatin is an antiangiogenic factor | INTRODUCTION: Angiogenesis activation plays a crucial role in tumoral growth and
metastases dissemination. This review summarizes and analyzes current knowledge
on molecular mechanisms related to angiogenesis and the prognostic value of its
effectors. It also focuses on the therapeutical relevance of various drugs t... |
List Genes associated with adolescent idiopathic scoliosis | Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis.Overall, these findings demonstrate a novel role for kif6 in spinal development and identify a new candidate gene for human idiopathic scoliosis. | The etiology of idiopathic scoliosis remains unknown. The condition results in a
characteristic deformity of the spine and surrounding tissues. Both Types I and
II collagen are important constituents of the affected tissues, and thus
defective collagens are reasonable candidates for the primary abnormality in
adole... |
Can botulism poisoning of a pregnant woman harm her fetus? | Botulinum toxin, which causes botulism, is not expected to be present in systemic circulation following proper intramuscular or intradermal injection. Moreover, botulinum toxin has a high molecular weight, and does not appear to cross the placenta. Based on the study cases reported in the literature, botulism poisoning... | During 1985-2005, a total of 91 laboratory-confirmed outbreaks of foodborne
botulism occurred in Canada; these outbreaks involved 205 cases and 11 deaths.
Of the outbreaks, 75 (86.2%) were caused by Clostridium botulinum type E,
followed by types A (7, 8.1%) and B (5, 5.7%). Approximately 85% of the
outbreaks occur... |
List the off-label use of SSRIs | depression during childhood and adolescence
Premature ejaculation (PE)
erectile dysfunction
Insomnia
postprostatectomy established stress urinary incontinence.
mood and anxiety disorders during pregnancy and breast feeding
symptoms of vasomotor dysregulation (hot flashes) associated with the menopausal transition and s... | BACKGROUND: The last few years have seen a remarkable rise in the off-label use
of trazodone for inducing sleep in nondepressed patients, to a degree that it is
prescribed for this purpose as commonly as the leading hypnotic. In view of this
widespread popularity, it seems prudent to review what is known of the safe... |
Which is the definition of pyknons in DNA? | Pyknons are non-random sequence patterns significantly repeated throughout non-coding genomic DNA, which have additional nonoverlapping instances in the untranslated and protein-coding regions. They are found more frequently in the 3' untranslated regions of genes than in other regions of the human genome. | We describe current research that applies epigenetics to a novel understanding
of the immuno-neuropathogenesis of HIV-1 viral infection and NeuroAIDS. We
propose the hypothesis that HIV-1 alters the structure-function relationship of
chromatin, coding DNA and non-coding DNA, including RNA transcribed from these
reg... |
Does a linker histone exist in the yeast genome? | Here, we present our results showing a connection between the linker histones, the higher-order chromatin structures, and the process of chronological lifespan of yeast cells. Characteristically, linker histone depleted chromatin generally exhibited longer chromatin loops than the wild-type. These results suggest that ... | There is currently no published report on the isolation and definitive
identification of histone H1 in Saccharomyces cerevisiae. It was, however,
recently shown that the yeast HHO1 gene codes for a predicted protein homologous
to H1 of higher eukaryotes (Landsman, D. (1996) Trends Biochem. Sci. 21,
287-288; Ushinsk... |
What is the role of deadenylases in the cell? | The 3'-poly(A) tail, found on mRNAs, is enzymatically shortened by a process referred to as "deadenylation" which is carried out by deadenylases. Deadenylases are magnesium dependent exoribonucleases that specifically catalyze the degradation of eukaryotic mRNA poly(A) tail in the 3'-->5' direction with the release of ... | The CCR4 family proteins are 3'-5'-deadenylases that function in the first step
of the degradation of poly(A) mRNA. Here we report the purification to
homogeneity of the yeast CCR4 protein and the analysis of its substrate
specificities. CCR4 deadenylated a 7N+23A substrate (seven nucleotides followed
by 23 A resid... |
What molecule is targeted by brodalumab? | Interleukin-17. Brodalumab is anti interleukin-17 monoclonal antibody. | BACKGROUND: In this phase 2, randomized, double-blind, placebo-controlled,
dose-ranging study, we assessed the efficacy and safety of brodalumab (AMG 827),
a human anti-interleukin-17-receptor monoclonal antibody, for the treatment of
moderate-to-severe plaque psoriasis.
METHODS: We randomly assigned patients with a... |
How long, in kb (kilobases), is a "Long interspersed nuclear element"? | The retrotransposon known as long interspersed nuclear element-1 (L1) is 6-7 kb long, | Leukemic cells of a patient diagnosed with chronic myeloid leukemia (CML) showed
a complex BCR-ABL1 rearrangement hidden within a normal appearing karyotype.
Previous molecular studies had established that the 3' BCR had recombined at a
novel site within the variable region of the immunoglobulin lambda locus ( IGL).... |
Which is the gene mutated in type 1 neurofibromatosis? | NF1 gene, encoding neurofibromin 1 | Neurofibromatosis type 1 (NF1) is caused by deletions, insertions,
translocations, and point mutations in the NF1 gene, which spans 350 kb on the
long arm of human chromosome 17. Although several point mutations have been
described, large molecular abnormalities have rarely been characterized in
detail. We describe... |
List receptors of the drug Cilengitide | Cilengitide binds αvβ3 and αvβ5 integrins. It inhibits attachment and invasion of malignant cells. Thus, cilengitide is being tested for treatment of cancer patients. | Two randomized trials demonstrated an improvement in survival with
docetaxel-based chemotherapy for patients with metastatic, androgen-independent
prostate disease. However, the effect of current therapy is suboptimal in that
it is complicated by toxicities and has no curative potential. Cilengitide
(EMD121974; NSC... |
Can protein coding exons originate from ALU sequences? | Yes. Intronic ALUs can evolve into exons by the activation of splice signals residing within the ALU sequence. While most ALU exons do not add or modify the coding capacity of the resulting transcript, examples have been identified of ALU exons becoming protein coding. | Alu repetitive elements can be inserted into mature messenger RNAs via a
splicing-mediated process termed exonization. To understand the molecular basis
and the regulation of the process of turning intronic Alus into new exons, we
compiled and analyzed a data set of human exonized Alus. We revealed a mechanism
that... |
How could U1 small nuclear RNA be used in therapeutics? | Until now, two main types of therapeutic strategies have been developed using U1 small nuclear RNA (snRNA): 1) Production of a defective, but partially functional protein, with the help of exon skipping, through modulation of pre-mRNA splicing, and 2) Correction of pathogenic effects of splice donor site mutations with... | We describe a gene silencing method that employs a mechanism of action distinct
from those of antisense and RNA interference. U1 Adaptors are bifunctional
oligonucleotides with a 'target domain' complementary to a site in the target
gene's terminal exon and a 'U1 domain' that binds to the U1 small nuclear RNA
compo... |
What is the influence of patent expiry on ACE inhibitor prescribing. | Patent expiry has different effects on prescribing in different systems. It leads to decreased cost but no decreased refill compliance in countries like Sweden, Germany etc. In countries like Taiwan, where doctors profit directly from dispensing, patients are switched to ARBs which are more costly. | BACKGROUND: In order to increase price competition, government regulations focus
on controlling drug costs. Drug costs after patent expiry are an area of
particular interest because the substitution of branded medication with generics
represents an opportunity for lowering drug costs. However, drug costs may not
de... |
Is there evidence that tomato juice lowers cholesterol levels? | Yes, there is evidence to suggest that tomato juice (and other tomato products) can decrease cholesterol concentrations. It was shown that tomatoes inhibit cholesterol biosynthesis. | High dietary intakes of tomato products are often associated with a reduced risk
of CVD, but the atheroprotective mechanisms have not been established. This
study was conducted to investigate the effects of increased dietary intake of
tomato products on plasma lipids and LDL oxidation. The diet intervention
include... |
Are there transposon-free regions in mammalian genomes? | Yes. Despite the presence of over 3 million transposons separated on average by approximately 500 bp, the human and mouse genomes each contain almost 1000 transposon-free regions (TFRs) over 10 kb in length. The majority of human TFRs correlate with orthologous TFRs in the mouse, despite the fact that most transposons ... | BACKGROUND: We recently reported the existence of large numbers of regions up to
80 kb long that lack transposon insertions in the human, mouse and opossum
genomes. These regions are significantly associated with loci involved in
developmental and transcriptional regulation.
RESULTS: Here we report that transposon-f... |
Are messenger RNA molecules epigenetically methylated? | Yes, methyltranscriptome is an exciting new area that studies the mechanisms and functions of methylation in transcripts. | Methyltranscriptome is an exciting new area that studies the mechanisms and
functions of methylation in transcripts. The MethylTranscriptome DataBase
(MeT-DB, http://compgenomics.utsa.edu/methylation/) is the first comprehensive
resource for N6-methyladenosine (m(6)A) in mammalian transcriptome. It includes
a datab... |
Which genes are more frequently affected by somatic mutations in Chronic Lymphocytic Leukemia | TP53, ATM, NOTCH1, XPO1, MYD88, KLHL6, SF3B1, ZMYM3, MAPK1, FBXW7 and DDX3X | Although B cell chronic lymphocytic leukemia (B-CLL) has been traditionally
viewed as a tumor of virgin B cells, this notion has been recently questioned by
data suggesting that a fraction of B-CLL derives from antigen experienced B
cells. In order to further clarify the histogenetic derivation of this
lymphoprolif... |
How effective is the dentritic cells treatment on cancer? | Another approach to cancer therapy takes advantage of the normal role of the dendritic cell as an immune educator. Dendritic cells grab antigens from viruses, bacteria, or other organisms and wave them at T cells to recruit their help in an initial T cell immune response. This works well against foreign cells that ente... | Dendritic cells are critical initiators of immune responses. They not only
activate pathogen-specific T and B lymphocytes, they also stimulate cells of the
innate immune system. Furthermore, dentritic cells are involved in immunological
tolerance induction through the elimination of autoreactive T lymphocytes. Over ... |
What is the mode of inheritance of nemaline myopathy? | Nemaline myopathy has a autosomal dominant or recessive mode of inheritance. | We present comparisons of the clinical pictures in a series of 60 patients with
nemaline myopathy in whom mutations had been identified in the genes for nebulin
or skeletal muscle alpha-actin. In the patients with nebulin mutations, the
typical form of nemaline myopathy predominated, while severe, mild or
intermedi... |
Which syndrome is NHE6 associated with? | Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset ... | Neuronal arborization is regulated by cell-autonomous and nonautonomous
mechanisms including endosomal signaling via BDNF/TrkB. The endosomal Na⁺/H⁺
exchanger 6 (NHE6) is mutated in a new autism-related disorder. NHE6 functions
to permit proton leak from endosomes, yet the mechanisms causing disease are
unknown. We... |
What is known about the reimbursement of Viagra | Coverage of Viagra/Sildenafil for erectile dysfunction by health insurance plans is a contentious issue in developed countries. There are data of the limitations (6 per month) and co-payments (26.6%) by patients in the US.
The costs for Viagra/Sildenafil for PAH (pulmonary artery hypertension) appear to be covered by ... | The article describes the controversy about the question whether statutory
social health insurances are obliged to reimburse the costs for the treatment of
erectile dysfunction. Next to the question whether the 'Bundesausschuss der
Arzte und Krankenkassen' was entitled to decide it was highly controversial
whether ... |
Why is lock mass used in Orbitrap measurements? | The lock mass is a compound of known mass and is used to compensate for drifts in instrument calibration. | The positive role and application of highly accurate mass measurements in
proteomics is well documented. The new generation of hybrid FTMS and Q-TOF
instruments, including the LTQ-Orbitrap (OT), is remarkable in their ability to
routinely produce single-digit to subppm statistical mass accuracy while
maintaining hi... |
Which virus is Cidofovir (Vistide) indicated for? | Cidofovir is commonly used in the treatment of cytomegalovirus (CMV) infection and disease. | A retrospective study was performed to collect information regarding efficacy
and toxicity of cidofovir (CDV) in allogeneic stem cell transplant patients.
Data were available on 82 patients. The indications for therapy were
cytomegalovirus (CMV) disease in 20 patients, primary preemptive therapy in 24
patients, and... |
Have gnotobiotic animal models been used for the study of bowel disease? | Yes, gnotobiotic animals (e.g. mice) have been used for the study of bowel disease (e.g. inflammatory bowel disease). | The pathogenesis of enteric changes was studied in gnotobiotic piglets which,
after hysterectomy had been infected orally with Campylobacter jejuni on the
first day of their life. The involvement of the entire large intestine became
clinically manifest by scouring on days post infection (DPI) 4 to DPI 5, and
pathom... |
List chromosomes that have been linked to Arnold Chiari syndrome in the literature. | Chromosomes 1, 3, 5, 6, 8, 9, 12, 13, 15, 16, 18, 22, X and Y have been reported in association with Arnold Chiari syndrome in genetic linkage studies and individual case reports. | A variety of anomalies of the central nervous system are observed in trisomy 18.
The present case describes an infant having a type II Arnold-Chiari malformation
without spina bifida. One previous case of an Arnold-Chiari malformation was
reported in trisomy 18 but that infant also had a lumbar meningomyelocoele.
A... |
Which translocation is the hallmark of Ewing sarcoma? | Tumours defined as Ewing sarcoma (ES) constitute a group of highly malignant neoplasms that most often affect children and young adults in the first 2 decades of life. The EWS/Fli-1 fusion gene, a product of the translocation t(11;22) (q24; 12), is detected in 95% of ES patients | PURPOSE: To describe a patient with metastasis of Ewing sarcoma to the choroid
and the molecular genetics of the tumor.
METHODS: A 26-year-old woman with metastatic Ewing sarcoma developed large
choroidal masses in the left eye and died 2 months later. Autopsy of the eyes
was performed. Dual-color fluorescent in sit... |
Is invasion and metastasis one of the hallmarks of cancer? | Yes, invasion and metastasis are one of the so-called hallmarks of cancer. | Maligt mesothelioma (MM) is a maligt tumor derived from mesothelial cells,
native cells of the body cavities. Exposure to asbestos is the most strongly
established etiologic factor, predomitly for the most common disease form,
pleural mesothelioma. The pathogenesis of MM involves the accumulation of
extensive cytog... |
Is it possible to detect survivin protein expression in normal human adult tissues? | No. Survivin is an inhibitor of apoptosis that is undetectable in normal differentiated tissues of adult human. | Recently, a novel antiapoptosis gene, i.e., survivin, was identified as a
structurally unique member of the inhibitor of apoptosis protein family.
Survivin expression is turned off during fetal development and not found in
non-neoplastic adult human tissues but is again turned on in the most common
human cancers. T... |
List symptoms of Meigs' Syndrome. | Meigs' syndrome is a benign ovarian tumor associated with ascites and pleural effusion. | BACKGROUND: The Meigs' syndrome is a rare but well-known syndrome defined as the
triad of benign solid ovarian tumor, ascites, and pleural effusion. Meigs'
syndrome always requires surgical treatment. However, the optimal approach for
its management has not been sufficiently investigated.
CASE PRESENTATION: We repor... |
What is the effect of CRD-BP on the stability of c-myc mRNA? | The c-myc mRNA coding region determinant-binding protein (CRD-BP) has high affinity for the coding region determinant (CRD) of c-myc mRNA. Such affinity is believed to protect c-myc CRD from endonucleolytic attack. | We previously isolated and characterized a coding region determit-binding
protein (CRD-BP) that might regulate c-myc mRNA post-transcriptionally. CRD-BP
binds specifically to the coding region of c-myc mRNA and might stabilize c-myc
mRNA in vitro by protecting it from endonucleolytic cleavage. Since c-myc
abundance... |
What is the molecular function of psoralen photobinding on DNA? | The interaction of two water-soluble furocoumarins, 8-(omega-diethyl aminopropyloxy)psoralen hydrochloride (I) and its 5-isomer (II), with DNA has been investigated by spectroscopic, equilibrium dialysis, hydrodynamic and chiroptical techniques. Both compounds intercalate into the polynucleotide double helix. | The effects of different DNA sequences on the photoreaction of various
furocoumarin derivatives was investigated from a quantitative point of view
using a number of self-complementary oligonucleotides. These contained 5'-TA and
5'-AT residues, having various flanking sequences. The furocoumarins included
classical ... |
Is progesterone effective for treatment of patients with traumatic brain injury based on clinical trial data? | No. Progesterone has been associated with robust positive effects in animal models of traumatic brain injury (TBI) and with clinical benefits in two phase 2 randomized, controlled trials. However, a recent large clinical trial showed no clinical benefit of progesterone in patients with severe TBI. These data stand in c... | PURPOSE OF REVIEW: Translating the efficacy of neuroprotective agents in
experimental traumatic brain injury to clinical benefit has proven an extremely
complex and, to date, unsuccessful undertaking. The focus of this review is on
neuroprotective agents that have recently been evaluated in clinical trials and
are ... |
Is there a role for the cylindromatosis tumor suppressor (CYLD) in lung cancer? | To explore a correlation between CYLD expression and responsiveness to TRAIL in lung cancer cell lines, we established lung cancer cell lines that stably express CYLD. Our data provided the first evidence that increased expression of CYLD directly blocks TRAIL-induced NF - B activation, and consequently increases TRAIL... | Cyld encodes a 956-amino acid deubiquitinating enzyme (CYLD), which is a
negative regulator of nuclear factor kappaB and mitogen-activated protein kinase
pathways. Mutations that truncate and inactivate the carboxyl-terminal
deubiquitinating domain of CYLD underlie the development of skin appendage
tumors in humans... |
Which medical diagnostic tests are used to test kidney function? | Most common tests used in diagnosing normal kidney function include blood tests such as serum creatinine levels, glomerular filtration rate (GFR) and blood urea nitrogen (BUN) levels, also medical imaging tests like ultrasound and CT Scan. Additionally kidney biopsy is used in more direct but invasive approach. Lastly,... | Eighty measurements of plasma creatinine concentration, height:creatinine ratio,
and plasma beta 2 microglobulin concentration were made on 72 children (age 4
months-18.5 years) with known renal disease. Results were compared with
simultaneous measurements of glomerular filtration rate using plasma clearance
of 51C... |
Against which protein is the antibody used for immonostaining of Lewy bodies raised? | alpha-Synuclein is a presynaptic protein, which was identified as a specific component of Lewy bodies (LB) and Lewy neurites. Therefore, immunostaining for detecting the presence of Lewy bodies is carried out using antibodies against alpha-synuclein. | A mutation in the alpha-synuclein gene has recently been linked to some cases of
familial Parkinson's disease (PD). We characterized the expression of this
presynaptic protein in the midbrain, striatum, and temporal cortex of control,
PD, and dementia with Lewy bodies (DLB) brain. Control brain showed punctate
peri... |
Which are the main causes of fetal echogenic bowel? | Fetal echogenic bowel is mainly associated to feto-maternal, intramniotic bleeding but in several cases it is linked to cystic fibrosis, cytomegalovirus (CMV), herpes simplex virus and other viral infections and fetal aneuploidy. | Congenital cytomegalovirus infection with oligohydramnios and echogenic bowel at
14 weeks' gestation. Though echogenic fetal bowel has been associated with meconium ileus and/or
peritonitis, it may be a normal finding in the second trimester. The purpose of
this study is to determine which characteristics might dist... |
How does trimetazidine affect intracellular kinase signaling in the heart? | Trimetazidine activates AMPK in diabetic myocardium. Trimetazidine when administered before reperfusion results in activation of p38 mitogen-activated protein kinase and Akt signaling. Trimetazidine when administered during reperfusion does not affect p38MAPK and JNK activation. | The present study investigated the tolerance of the isolated rat heart to
ischemia-reperfusion after administration of trimetazidine (TMZ) at different
experimental phases, as well as the possible involvement of p38 MAPK and JNKs in
this response. Isolated rat hearts were perfused in Langendorff mode. Untreated
hea... |
Which is the enzymatic activity of the myotubularin family of proteins? | The myotubularin family of proteins are lipid inositol phosphatases | The myotubularin-related genes define a large family of eukaryotic proteins,
most of them initially characterized by the presence of a ten-amino acid
consensus sequence related to the active sites of tyrosine phosphatases,
dual-specificity protein phosphatases and the lipid phosphatase PTEN.
Myotubularin (hMTM1), t... |
Can we detect DNA strand asymmetries using dinucleotide relative abundance "genomic signatures"? | The set of dinucleotide relative abundances can be regarded as a genomic signature because, despite diversity between species, it varies little between 50 kilobase or longer windows on a given genome. Thus, dinucleotide relative abundance profiles are species-type specific. These profiles are computed from the base ste... | Early biochemical experiments established that the set of dinucleotide odds
ratios or 'general design' is a remarkably stable property of the DNA of an
organism, which is essentially the same in protein-coding DNA, bulk genomic DNA,
and in different renaturation rate and density gradient fractions of genomic DNA
in... |
What is the percentage of responders to tetrabenazine treatment for dystonia in children? | Tetrabenazine is used empirically in the treatment of dystonia in children with variable success. Observational studies report improvement of up to > 60% of the patients. | We retrospectively reviewed the clinical course and response to treatment of 67
patients with tardive dystonia. The age at onset ranged from 13 to 72 years
without predilection to any particular age group or sex. Patients developed
tardive dystonia even after relatively short duration of exposure to dopamine
antago... |
Is there any relationship between histone ubiquitylation and splicing? | Yes, in the case of histone H2B | Pre-messenger RNA splicing is carried out by a large ribonucleoprotein complex
called the spliceosome. Despite the striking evolutionary conservation of the
spliceosomal components and their functions, controversy persists about the
relative importance of splicing in Saccharomyces cerevisiae-particularly given
the ... |
Which disease can be treated with Delamanid? | Delamanid is used in patients with multidrug-resistant tuberculosis. | The advent of antibiotics for the treatment of tuberculosis (TB) represented a
major breakthrough in the fight against the disease. However, since its first
use, antibiotic therapy has been associated with the emergence of resistance to
drugs. The incorrect use of anti-TB drugs, either due to prescription errors,
l... |
What was the aim of the COSS (Carotid Occlusion Surgery Study) clinical trial? | The Carotid Occlusion Surgery Study (COSS) was conducted to determine if superficial temporal artery-middle cerebral artery (STA-MCA) bypass, when added to the best medical therapy, would reduce subsequent ipsilateral stroke in patients with complete internal carotid artery (ICA) occlusion and an elevated oxygen extrac... | Intracranial atherosclerotic disease (ICAD) is the most common proximate
mechanism of ischemic stroke worldwide. Approximately half of those affected are
Asians. For diagnosis of ICAD, intra-arterial angiography is the gold standard
to identify extent of stenosis. However, noninvasive techniques including
transcran... |
What are the advantages of the top down mass spectrometric analysis of histones? | Top down mass spectrometry is a way to analyze intact proteins thus enabling: isoform characteriztion and analysis of post-translational modifications. | For more complete characterization of DNA-predicted proteins (including their
posttranslational modifications) a "top-down" approach using high-resolution
tandem MS is forwarded here by its application to methanogens in both
hypothesis-driven and discovery modes, with the latter dependent on new
automation benchmar... |
What is situs inversus? | Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs. | The authors reported a 73-year-old alcoholic man with previously-unrecognized
situs inversus totalis suffering from left upper quadrant pain. Acute myocardial
infarction was diagnosed and coronary angioplasty was performed immediately.
However, the massive bleeding from the previously-unfound hepatomas caused
hypov... |
Can SUMO affect calcium homeostasis? | Yes, SUMO proteins can affect calcium homeostasis. | The calcium-transporting ATPase ATP2A2, also known as SERCA2a, is a critical
ATPase responsible for Ca(2+) re-uptake during excitation-contraction coupling.
Impaired Ca(2+) uptake resulting from decreased expression and reduced activity
of SERCA2a is a hallmark of heart failure. Accordingly, restoration of SERCA2a
... |
What is the indication of Daonil (Glibenclamide)? | Glibenclamide is an antidiabetic and antiglycemic, used in severe NIDDM, and increasingly viewed as a rational alternative to insulin therapy. | We have investigated the presence of diazoxide- and nicorandil-activated K+
channels in rat skeletal muscle. Activation of potassium transport in the rat
skeletal muscle myoblast cell line L6 caused a stimulation of cellular oxygen
consumption, implying a mitochondrial effect. Working with isolated rat skeletal
mus... |
Which is the most typical peptide sequence responsible for retrieval of endoplasmic reticulum (ER) lumenal proteins from the Golgi apparatus? | The lumenal endoplasmic reticulum (ER) proteins carry a specific sorting signal which enables their retrieval from multiple post-ER compartments (up to the TGN along the exocytotic pathway), back to the ER. The most typical such signal is the carboxyl-terminal Lys-Asp-Glu-Leu (KDEL), which is bound by a KDEL receptor i... | In eukaryotic cells, protein secretion provides a complex organizational
problem. Secretory proteins are first transported, in an unfolded state, across
the membrane of the endoplasmic reticulum (ER), and are then carried in small
vesicles to the Golgi apparatus and finally to the cell membrane. The ER
contains sol... |
What are the clinical trial outcomes of metformin use in polycystic ovary disease? | Metformin treatment vs placebo significantly but modestly improves ovulation frequency in women with abnormal ovarian function/oligomenorrhea and polycystic ovaries, the lower BMI women were more likely to become pregnant. While in naturally conceiving normal weight PCOS women pre-treatment with metformin tends to im... | BACKGROUND: Metformin, an insulin-sensitizing agent, has been used successfully
as the first-line drug to induce ovulation in women with polycystic ovary
syndrome. There are, however, very few studies evaluating metformin treatment in
women with clomiphene citrate (CC)-resistant polycystic ovaries (PCO).
METHODS: Tw... |
List the main proteases used for sample digestion in proteomics. | Trypsin is the main protease used in proteomics followed by Asp-N, chymotrypsin, LysC, GluC and thermolysin. | Quantitative proteomics using isobaric labeling typically involves sample
digestion, peptide-level labeling and 2D LC-MS/MS. Proteomic analysis of complex
samples can potentially be performed more comprehensively with GeLC-MS/MS.
However, combining this approach with peptide-level labeling of multiple in-gel
digest... |
Which proteins act as factors that promote transcription-coupled repair in bacteria? | Transcription coupled nucleotide excision repair (TC-NER or TCR) is a cellular process by which UV-induced damage and other road-blocks encountered in the transcribed strand are restored. Bacterial transcription-coupled repair is initiated when RNA polymerase stalled at a DNA lesion is removed by Mfd (Mutation frequenc... | Heterogeneity of DNA repair has been observed at different levels of genomic
organization, including chromatin domains, expressed genes and DNA strands. If
heterogeneity also existed intragenically, it could reveal fine details of the
excision repair mechanism in vivo. Here we measure the frequency of UV-induced
cy... |
What is the association between Generalized anxiety disorder and mortality risk? | Numerous studies have demonstrated that Generalized anxiety disorder is associated with increased mortality risk in different populations, including veterans and non demented elderly individuals. Anxiety disorders predict greater mortality, particularly when present with other psychiatric disorders. However, one study ... | Over the past two decades, anxiety disorders have become the focus of much
research after years of relative obscurity. The accumulating data has suggested
that anxiety disorders may have many consequences including decreased quality of
life, economic dependence, multiple somatic complaints, maladaptive personality
... |
Which molecule is targeted by a monoclonal antibody Mepolizumab? | Mepolizumab is a humanized monoclonal antibody that binds to and inactivates interleukin-5 that has been shown to reduce asthma exacerbations in patients with severe eosinophilic asthma. | The role of eosinophils as effector cells in asthma pathogenesis has been
questioned since an anti-interleukin (IL)-5 monoclonal antibody (mepolizumab),
which depleted blood and sputum eosinophils, failed to inhibit allergen-induced
bronchoconstriction and airway hyperresponsiveness. However, the effect of IL-5
blo... |
Which is the major symptom of the Doose syndrome? | Myoclonic astatic epilepsy is the major symptom of the Doose syndrome, which is a difficult to treat idiopathic generalized epilepsy of early childhood. | We studied 36 drop seizures in 5 patients with myoclonic astatic epilepsy of
early childhood (MAEE) with simultaneous split-screen video recording and
polygraph. Sixteen were falling attacks and 20 were either less severe attacks
exhibiting only deep head nodding or seizures equivalent to drop attacks in
terms of i... |
Have mutations in the GARS gene been identified to cause Charcot-Marie-Tooth Disease Type 2D (CMT2D)? | Charcot-Marie-Tooth disease type 2D (CMT2D) is caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). | We describe clinical, electrophysiological, histopathological and molecular
features of a unique disease caused by mutations in the glycyl-tRNA synthetase
(GARS) gene. Sixty patients from five multigenerational families have been
evaluated. The disease is characterized by adolescent onset of weakness, and
atrophy o... |
Which treatment leads to an increase in neutrophil counts in severe congenital neutropenia? | In phase I/II/III studies in patients with severe congenital and cyclic neutropenia, treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) resulted in a rise in the absolute neutrophil counts (ANC) and a reduction in infections | Severe congenital neutropenia (SCN) is a disorder of myelopoiesis characterized
by severe neutropenia or absence of blood neutrophils secondary to a
maturational arrest at the level of promyelocytes. We examined peripheral blood
mononuclear cells (PBMC) of SCN patients who demonstrated normalization of their
blood ... |
Which genes are affected in ROMANO-WARD syndrome? | The genes involved in ROMANO-WARD syndrome are KCNQ1, KCNE1, KCNE2, KCNH2, SCN5A, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5 and Ankyrin-B. | Once limited to discussions of the Jervell and Lange-Nielsen syndrome and
Romano-Ward syndrome, the long QT syndrome (LQTS) is now understood to be a
collection of genetically distinct arrhythmogenic cardiovascular disorders
resulting from mutations in fundamental cardiac ion channels that orchestrate
the action po... |
Does melanoma occur in people of African origin ? | Yes. Africans with dark skin have a reduced risk of getting all types of skin cancer as compared with Caucasians. The incidence of malignant melanoma in Johannesburg Black was 1,2 per 100 000 and accounted for 2% of all cancers. The largest number of cases occurred in the 50- 70-year age group and there was a female pr... | The incidences of maligt melanoma recorded by 59 population-based cancer
registries were investigated to determine the effects of racial and skin-colour
differences. White populations exhibited a wide range of melanoma incidences and
females commonly, though not invariably, had a higher incidence than males.
Non-wh... |
What is the effect of resveratrol on mTOR activity? | Resveratrol (RSV) inhibits leucine-stimulated mTORC1 activation by promoting mTOR/DEPTOR. | Here we demonstrated that, at cytostatic, near-toxic concentrations, resveratrol
inhibited S6 phosphorylation and prevented the senescence morphology in human
cells. Using a sensitive functional assay, we found that resveratrol partially
prevented loss of the proliferative potential associated with cellular
senesce... |
Are people with blood group O protected against severe Malaria? | It appears that individuals who are of blood-group O are relatively resistant to the severe disease caused by P. falciparum infection. | Although the ABO blood group of the human host has been reported to influence
malarial infection, there have been few clinical observations on this effect. A
hospital-based, comparative study was therefore performed to investigate the
relationship between blood-group type and severe disease i nPlasmodium
falciparum... |
Which eye condition is managed by the athens protocol? | The athens protocol (transepithelial topography-guided PRK therapeutic remodeling, combined with same-day, collagen cross-linking) was developed for the management of cornea blindness due to severe corneal scarring. | PURPOSE: To evaluate a series of patients with corneal ectasia after LASIK that
underwent the Athens Protocol: combined topography-guided photorefractive
keratectomy (PRK) to reduce or eliminate induced myopia and astigmatism followed
by sequential, same-day ultraviolet A (UVA) corneal collagen cross-linking
(CXL).... |
What is the role of AMPK kinase in myocardial remodeling after myocardial infarction | AMP-activated protein kinase (AMPK) is a key sensor of cellular energy. The activation of AMPK by metformin prevents cardiac remodeling after myocardial infarction (MI).
Adiponectin protects the heart from ischemia-reperfusion injury through an AMPK-dependent mechanism.
AMPK activation by metformin and the subsequent ... | Obesity-related disorders are associated with the development of ischemic heart
disease. Adiponectin is a circulating adipose-derived cytokine that is
downregulated in obese individuals and after myocardial infarction. Here, we
examine the role of adiponectin in myocardial remodeling in response to acute
injury. Is... |
What is the mechanism of action of solanezumab? | Solanezumab is a monoclonal anti-amyloid beta peptide (Aβ) antibody. It has been tested for treatment of Alzheimer's disease patients. | OBJECTIVES: Active and passive immunization strategies have been suggested as
possible options for the treatment of Alzheimer disease (AD). LY2062430
(solanezumab) is a humanized monoclonal antibody being studied as a putative
disease-modifying treatment of AD.
METHODS: Patients with mild to moderate AD were screene... |
What are the major clinical Villefranche criteria for classic Ehlers-Danlos syndrome? | The major clinical Villefranche criteria for classic Ehlers-Danlos syndrome are skin hyperextensibility, dystrophic scarring, and joint hypermobility. | Type V collagen mutations are associated with classic Ehlers-Danlos Syndrome
(EDS), but it is unknown for which proportion they account and to what extent
other genes are involved. We analyzed COL5A1 and COL5A2 in 126 patients with a
diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect
wa... |
What is the treatment of neuropathic pain in children? | It is unclear if any treatment is registered for pediatric use. The reported treatments are:
Oxcarbazepine
Opioids alone, in rotations or with Analgesics (e.g. Ketamine and Lidocaine infusion)
Opioids and Benzodiazepines
Pregabalin - is one of the first drugs registered for the treatment of neuropathic pain. It is u... | Oral amitriptyline has been used as an analgesic in a wide range of pain
settings. Despite long-term availability of a parenteral form, the few reports
about this formulation have been limited to pharmacokinetic studies in normal
volunteers, trials in depressed patients, and analyses of electroencephalogram
(EEG) a... |
Which phenomenon is known as the "calcium paradox" in the isolated perfused heart? | When hearts are reperfused with Ca++ after a short period of Ca++-free perfusion, irreversible loss of electrical and mechanical activity is observed. This phenomenon, first described by Zimmerman and Hulsmann, was termed the "calcium paradox". This phenomenon is concomitant with a rapid consumption of myocardial high-... | Injury is sustained by isolated hearts on repletion with calcium after a short
period of perfusion with calcium-free medium at 37 degrees. A possible mechanism
for the 'calcium paradox' is that exposure to a calcium-fre medium removes
extracellular calcium rendering the sarcolemma more permeable to calcium. On
calc... |
Is there a crystal structure of the full-length of the flaviviridae NS5(Methyltransferase - RNA depended RNA Polymerase) ? | Yes, there is the crystal Structure of the full-length Japanese encephalitis virus (Flaviviridae) NS5 - PDB:4K6M | The West Nile virus (WNV) NS5 protein contains a methyltransferase (MTase)
domain involved in RNA capping and an RNA-dependent RNA polymerase (RdRp) domain
essential for virus replication. Crystal structures of individual WNV MTase and
RdRp domains have been solved; however, the structure of full-length NS5 has not ... |
How do Hsp70 and Hsp110 affect mRNA stability? | Hsp70 and Hsp110 act as RNA-binding entities in vivo to guide the appropriate folding of RNA substrates for subsequent regulatory processes such as mRNA degradation and/or translation. | In this study, in vitro RNA binding by members of the mammalian 70-kDa heat
shock protein (Hsp) family was examined. We show that Hsp/Hsc70 and Hsp110
proteins preferentially bound AU-rich RNA in vitro. Inhibition of RNA binding by
ATP suggested the involvement of the N-terminal ATP-binding domain. By using
deletio... |
What is Prudent Diet? | The Prudent dietary pattern is characterised by high intakes of vegetables, fruits, whole grain products and low intakes of refined grain products, legumes, fish, poultry. Generally recommendations are to use saturated/trans fat intake less than 10% of total calories and cholesterol less than 300 mg/day and/or fiber in... | 14 previously untreated patients with hyperlipoproteinemia type IIa according to
Fredrickson underwent a controlled clinical trial. The study was designed to
clarify the effects of clofibrate on the bloodlipids. All patients were willing
to cooperate. After leaving their usual dietary habits all of them were given
... |
What is the role of necroptosis in cancer therapy? | Necroptosis, a novel form of programmed cell death (PCD), is caspase independent but RIPK and RIPK3 dependent. The apoptotic, autophagic and necroptotic pathways of PCD were shown to be interconnected, with molecules such as FLIP acting as a bridge between them. Therefore, simultaneous activation of the three PCD pathw... | Cancerous growth is one of the most difficult diseases to target as there is no
one clear cause, and targeting only one pathway does not generally produce
quantifiable improvement. For a truly effective cancer therapy, multiple
pathways must be targeted at the same time. One way to do this is to find a gene
that is... |
Can venlafaxine block NET and SERT? | Yes, venlafaxine inhibits both the NET and SERT. | Venlafaxine hydrochloride (Effexor) is a structurally novel antidepressant that
inhibits reuptake of 5-hydroxytryptamine and noradrenaline, but unlike the older
antidepressants, has few side-effects. The objective of this study was to
determine whether venlafaxine relieves thermal hyperalgesia in rats with
neuropat... |
Is Rheumatoid Arthritis more common in men or women? | Disease patterns in RA vary between the sexes; the condition is more commonly seen in women, who exhibit a more aggressive disease and a poorer long-term outcome. | The present case-control study was conducted to investigate the relationship
between smoking and rheumatoid arthritis, and to investigate formally the
interaction between sex, smoking, and risk for developing rheumatoid arthritis.
The study was performed in the Central District of Finland. Cases were patients
with ... |
What is FINDbase? | Frequency of INherited Disorders database (FINDbase) (http://www.findbase.org) is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related ge... | Frequency of INherited Disorders database (FIND base; http://www.findbase.org)
records frequencies of causative genetic variations worldwide. Database records
include the population and ethnic group or geographical region, the disorder
name and the related gene, accompanied by links to any related external
resource... |
Can vitamin B1 deficiency cause encephalopathy? | Wernicke's encephalopathy (WE) is a severe neurological syndrome caused by thiamine (vitamin B1) deficiency and clinically characterized by the sudden onset of mental status changes, ocular abnormalities, and ataxia. It is commonly associated with heavy alcohol consumption. Other clinical associations are with hypereme... | Wernicke's encephalopathy is a serious neurological manifestation of vitamin B1
deficiency. We report a case occurring secondary to hyperemesis gravidarum. The classic signs of vitamin deficiency only occur in states of extreme
depletion and are unreliable indicators for early treatment or prophylaxis of
alcoholic... |
Which methyl-CpG-binding protein when mutant becomes the hallmark for Rett syndrome? | Rett syndrome (RTT) was shown to be caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, with molecular studies identifying MECP2 mutations in up to 80% of classic RTT patients. MECP2 protein was found to assist in the transcriptional silencing process via DNA methylation. We therefore hypothesize that... | Rett syndrome (RTT) is an X-linked domit neurodevelopmental disorder that
manifests in females, typically after the first year of life. It is a leading
cause of mental retardation and autistic behavior in girls and women; a hallmark
of the disease is incessant hand movements in the form of wringing, twisting, or
cl... |
Are epigenetic modifications implicated in cardiovascular development and disease? | Genetic and epigenetic factors are of great importance in cardiovascular biology and disease. Aberrant epigenetic mechanisms may lead to pathological consequences such as cardiovascular disease (CAD).Recent studies have greatly expanded our understanding of the regulation of cardiovascular development at the chromatin ... | Cellular commitment to a specific lineage is controlled by differential
silencing of genes, which in turn depends on epigenetic processes such as DNA
methylation and histone modification. During early embryogenesis, the mammalian
genome is 'wiped clean' of most epigenetic modifications, which are
progressively re-e... |
Which deiodinases are present in skeletal muscle? | Type 2 and Type 3 deiodinases are expressed in skeletal muscle and their expression is modulated by disease state and fasting. | The relative roles of the types 1 and 2 iodothyronine deiodinases (D1 and D2) in
extrathyroidal 3,5,3'-triiodothyronine (T3) production in humans are unknown. We
calculated the rate of thyroxine (T4) to T3 conversion by intact cells
transiently expressing D1 or D2 at low (2 pM), normal (20 pM), and high (200 pM)
fr... |
Which genes are involved in patient response to warfarin? | The following genes have been associated with patient response to warfarin: CYP2C9, VKORC1, ORM1, CYP4F2, EPHX1, CYP2C18, CYP2C19, CYP3A5, protein S, clotting factor V, PROC, GGCX. | Warfarin is an anticoagulant available as a racemic mixture. The R- and
S-isomers differ with respect to relative plasma concentrations, clearance,
potency, sites of metabolism, and cytochrome P450 (CYP) isoenzymes responsible
for metabolism. S-Warfarin, the more potent isomer, is metabolized primarily by
CYP2C9. G... |
Which is the molecular weight of the protein angiogenin? | The molecular weight of angiogenin is 14,120 Da. The bovine angiogenin is 14,595 Da | Angiogenin is a potent blood-vessel-inducing polypeptide with a molecular weight
of 14,000 that has a unique ribonucleolytic activity. First isolated from the
conditioned medium of tumour cells, angiogenin has since been purified from
normal plasma, which suggested that its propensity to induce neovascularization
s... |
List sodium glucose co-transporter-2 (SGLT2) inhibitors that have been FDA approved for type 2 diabetes mellitus treatment. | Canagliflozin, along with dapagliflozin and empagliflozin, are SGLT2 inhibitors approved by the US FDA for use in the treatment of type 2 diabetes. | OBJECTIVE: To review the literature and describe the pharmacologic,
pharmacokinetic, and pharmacodynamic properties; clinical safety; and efficacy
of dapagliflozin, a new drug currently under review by the Food and Drug
Administration (FDA) for the treatment of type 2 diabetes.
DATA SOURCES: A MEDLINE (1995-November... |
What is the gene mutated in the Gaucher disease? | The glucocerebrosidase gene (GBA) | Gaucher disease is inherited in an autosomal recessive manner and is the most
prevalent lysosomal storage disease. Gaucher disease has marked phenotypic
variation and molecular heterogeneity, and several simple and complex alleles of
the acid beta-glucosidase gene have been identified as causal to this disease.
Cer... |
Why does the prodrug amifostine (ethyol) create hypoxia? | After the administration of Prodrug amifostine the cells of the tissue prefer anaerobic glycolysis rather than regular cellular aerobic respiration. By the beggining of anaerobic glycolysis the inducible by hypoxia proteins are induced and by all these molecules the hypoxic conditions consist of. | Controlled clinical trials indicate that amifostine (WR-2721, Ethyol) confers
protection from the cumulative hematologic toxicities associated with alkylating
agents and organoplatinums. To determine whether amifostine protects primitive
hematopoietic progenitors from the cytotoxicity of functionally diverse
antine... |
What is considered a reliable technique for the definitive cytogenetic diagnosis of Fanconi anemia homozygosity? | In vitro enhancement of chromosome breakage by diepoxybutane (DEB) and mitomycin C (MMC) are reliable techniques for the definitive cytogenetic diagnosis of Fanconi anemia homozygosity. | BACKGROUND: Patients with bone marrow failure and undiagnosed underlying Fanconi
anemia may experience major toxicity if given standard-dose conditioning
regimens for hematopoietic stem cell transplant. Due to clinical variability
and/or potential emergence of genetic reversion with hematopoietic somatic
mosaicism,... |
Can exosomes be detected in urine? | Yes, urinary exosomes can be detected in urine. | Exosomes are ovesicles secreted into the extracellular environment upon
internal vesicle fusion with the plasma membrane. The molecular content of
exosomes is a fingerprint of the releasing cell type and of its status. For this
reason, and because they are released in easily accessible body fluids such as
blood and... |
What is the role of lysine-specific demethylase 1 (LSD1) in hematopoiesis? | LSD1 represents a central regulator of hematopoietic stem and progenitor cells. LSD1 knockdown (LSD1-kd) expanded progenitor numbers by enhancing their proliferative behavior. LSD1-kd led to an extensive expansion of granulomonocytic, erythroid and megakaryocytic progenitors. In contrast, terminal granulopoiesis, eryth... | Gfi-1 and Gfi-1b are homologous transcriptional repressors involved in diverse
developmental contexts, including hematopoiesis and oncogenesis. Transcriptional
repression by Gfi proteins requires the conserved SNAG domain. To elucidate the
function of Gfi proteins, we purified Gfi-1b complexes and identified
intera... |
For the treatment of which conditions can atypical neuroleptic drugs be used? | Atypical neuroloeptic drugs are antipsychotics used in patients with schizophrenia, schizoaffective disorder, delusional disorder, psychotic disorders, psychotic relapse in neuroleptic malignant syndrome and attention deficit hyperactivity disorder when presenting with negativism and conduct disorder. | Acute and late onset movement disorders frequently complicate the treatment of
psychosis with typical neuroleptic drugs like haloperidol, but not with atypical
neuroleptic drugs like clozapine. Although the neural mechanisms underlying
neuroleptic-induced movement disorders remain unknown, alterations in basal
gang... |
Which are the characteristics of Andersen syndrome? | the characteristics of Andersen syndrome are abnormal QT-U complex, ventricular arrhythmia, periodic paralysis, and facial and skeletal dysmorphisms | Andersen's syndrome is a clinically distinct form of potassium-sensitive
periodic paralysis associated with cardiac dysrhythmias. The subtle nature of
the cardiac and dysmorphic features may delay the recognition of this syndrome
and its potentially lethal cardiac dysrhythmias. The genetic defect in
Andersen's synd... |
How are induced pluripotent stem cells used in the study and treatment of cardiovascular diseases? | The major goal within the field of cardiovascular regenerative medicine is to replace lost or damaged cardiac muscle and coronaries following ischaemic disease. At present, de novo cardiomyocytes can be generated either in vitro, using directed differentiation of embryonic stem cells or induced pluripotent stem cells, ... | PURPOSE OF REVIEW: The development of induced pluripotent stem cell (iPSC)
technology has led to many advances in the areas of directed cell
differentiation and characterization. New methods for generating iPSC-derived
cardiomyocytes provide an invaluable resource for the study of certain
cardiovascular disorders. ... |
Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome? | Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or cont... | We describe a brother and sister with Hirschsprung disease, hypotonia, and
ptosis. Their condition resembles that in 2 sibs reported by Goldberg and
Shprintzen. We conclude that the clinical characteristics in 8 reported cases
with similar clinical manifestations represent a distinct autosomal recessive
syndrome, G... |
Which protein is causing Netherton syndrome? | Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the gene SPINK5 (serine protease inhibitor Kazal type 5) which encodes for a serine protease inhibitor LEKTI (lymphoepithelial Kazal type-related inhibitor) | Deficiency in the serine protease inhibitor LEKTI is the etiological origin of
Netherton syndrome, which causes detachment of the stratum corneum and chronic
inflammation. Here we show that the membrane protease matriptase initiates
Netherton syndrome in a LEKTI-deficient mouse model by premature activation of a
pr... |
Mutations in which gene and which protein are associated with Netherton syndrome? | NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial tissues. | We describe here eleven different mutations in SPINK5, encoding the serine
protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS,
MIM256500). Most of these mutations predict premature termination codons. These
results disclose a critical role of SPINK5 in epidermal barrier function and
immunity, and ... |
Which disease of the central nervous system is characterized by the presence of Lewy bodies? | Parkinson s disease (PD) is one of the most common degenerative disorders of the central nervous system that produces motor and non-motor symptoms. The majority of cases are idiopathic and characterized by the presence of Lewy bodies containing fibrillar α-synuclein | A number of neurodegenerative diseases including Parkinson's disease, dementia
with Lewy bodies (DLB) and multiple system atrophy are characterized by the
formation and intraneuronal accumulation of fibrillar aggregates of
alpha-synuclein (alpha-syn) protein in affected brain regions. These and other
findings sugge... |
Which deiodinase is known to be present in liver? | High D1 and D3 activities are present in fetal human liver, and high D1 and mostly absent D3 activities are present in adult human liver. | In systemic nonthyroidal illness (NTI), peripheral production of T3 from T4 is
decreased, resulting in a decreased serum T3 concentration. We investigated
whether factors in serum of NTI patients may play a role in this energy-saving
adaptation mechanism. Metabolism of T4 and T3 by rat hepatocytes in primary
cultur... |
Which proteins participate in the formation of the Notch transcriptional activation complex? | The Notch intracellular domain (NICD) forms a transcriptional activation complex with the DNA-binding factor CSL and a transcriptional co-activator of the Mastermind family (MAML). ICN binds to a highly conserved DNA-binding transcription factor called CSL (also known as RBP-Jkappa, CBF1, Suppressor of Hairless, and La... | Mastermind (Mam) is a component of Notch pathway signaling. In combination with
the intracellular domain of Notch and Suppressor of Hairless, Mam forms a
transcriptional activation complex. We have initiated a genetic approach to
identify other loci involved in Mam function. The screen utilizes engineered
mutations... |
How is the sequence variability defined in antibodies? | The variability at each position of the polypeptide chain is defined as:
Variability = number of different amino acids at a given position / frequency of the most common amino acid at given position. | Five murine epitopes were defined and mapped within IgA1 protease produced by
Neisseria meningitidis. Epitopes 1 and 2 were present in IgA1 protease from all
strains, and from Neisseria gonorrhoeae. Epitopes 3 through to 5 varied between
subgroups of serogroup A meningococci, but have remained constant over decades ... |
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