question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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Does Vitamin D induce autophagy? | Yes, vitamin D induces autophagy. | We evaluated the effects of administration of 1,25-dihydroxyvitamin D
(1,25(OH)2D) during pregcy on relieving adverse outcomes of preeclampsia and
the pathologic and biochemical changes in reduction in uteroplacental perfusion
(RUPP) model of rats. On day 1, 7, and 14 of pregcy, rats in pregt RUPP
plus 1,25(OH)2D (... |
What is sQTLseekeR? | sQTLseekeR is an R package for the identification of genetic variants associated with alternative splicing. It is based on a statistical framework that uses a distance-based approach to compute the variability of splicing ratios across observations, and a non-parametric analogue to multivariate analysis of variance. | |
What is Creutzfeldt-Jakob Disease (CJD)? | Creutzfeldt-Jakob disease (CJD) is the most prevalent of the human prion diseases, which are fatal and transmissible neurodegenerative diseases caused by the infectious prion protein (PrP(Sc)). The origin of CJD is unknown, although the initiating event is thought to be the stochastic misfolding of endogenous prion pro... | Creutzfeldt-Jakob disease (CJD) is presumably caused by a slow infectious
pathogen or prion. The principal clinical features of Creutzfeldt-Jakob disease
are dementia, pyramidal and extrapyramidal symptoms and signs, cerebellar
dysfunction, and myoclonus. The patient rapidly deteriorates, declines to a
vegetative s... |
Describe what is athelia syndrome? | Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. | The absence of nipple-areola complex is a rare entity and is always associated
with other anomalies. This paper described a case of bilateral athelia without
other alterations. The atrophy of the dense mesenchyme due to absence of
parathyroid hormone-related protein produced in epithelium may lead to nipple
involut... |
Is RASA2 involved in melanoma? | Yes. Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas. Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration. RASA2 expression was lost in ≥30% of human melanomas and was associate... | Author information:
(1)Molecular Cell Biology Department, Weizmann Institute of Science, Rehovot,
Israel.
(2)Melanoma Institute Australia, Sydney, New South Wales, Australia.
(3)Discipline of Pathology, Sydney Medical School, University of Sydney, Sydney,
New South Wales, Australia.
(4)National Human Genome Research ... |
What is BioCreative? | A community wide effort to evaluate biomedical information extraction and text mining. | We present a maximum entropy-based system for identifying named entities (NEs)
in biomedical abstracts and present its performance in the only two biomedical
named entity recognition (NER) comparative evaluations that have been held to
date, namely BioCreative and Coling BioNLP. Our system obtained an exact match
F... |
What is Contrave prescribed for? | Contrave(?) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity | In March 2010, Orexigen(R) Therapeutics submitted a new drug application (NDA)
for approval of naltrexone sustained release (SR)/bupropion SR (Contrave(R)) for
the treatment of obesity in the US. The tablet contains naltrexone SR 32 mg and
bupropion SR 360 mg. The drug has been tested in four randomized, double-blin... |
Which is the chromosome area that the human gene coding for the dopamine transporter (DAT1) is located to? | The gene encoding DAT1 consists of 15 exons spanning 60 kb and is located on chromosome 5p15.3. | The human dopamine transporter (DAT1) gene is localized to chromosome 5p15.3 by
in situ hybridization and PCR amplification of rodent somatic cell hybrid DNA.
Analysis of a 40-bp repeat in the 3' untranslated region of the message revealed
variable numbers of the repeat ranging from 3 to 11 copies. These results wil... |
What type of mutation is causing the industrial melanism phenotype in peppered moths? | The mutation event giving rise to industrial melanism in Britain was the insertion of a large, tandemly repeated, transposable element into the first intron of the gene cortex. | Industrial melanism in peppered moths has been studied most intensively in
Britain. The first melanic phenotype (effectively solid black) was recorded near
Manchester in 1848. By 1895 about 98% of the specimens near Manchester were
melanic, and this once rare phenotype had spread across regions of the country
black... |
What gene is mutated in Huntington's disease? | Huntington disease (HD; OMIM 143100), a progressive neurodegenerative disorder, is caused by an expanded trinucleotide CAG (polyQ) motif in the HTT gene. Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD). | Huntingtons disease (HD) is a hereditary disorder involving the central nervous
system. Its effects are devastating, to the affected person as well as his
family. The Department of Medical and Molecular Genetics at Indiana University
(IU) plays an integral part in Huntingtons research by providing computerized
repo... |
Which software package is available for the analysis of conserved genomic loci? | PHYLUCE is a software package for the analysis of conserved genomic loci. It identifies targeted, enriched loci from the off-target background data; aligns enriched contigs representing conserved loci to one another; and prepare and manipulate these alignments for subsequent phylogenomic inference. PHYLUCE is an effici... | Targeted enrichment of conserved and ultraconserved genomic elements allows
universal collection of phylogenomic data from hundreds of species at multiple
time scales (<5 Ma to > 300 Ma). Prior to downstream inference, data from these
types of targeted enrichment studies must undergo preprocessing to assemble
conti... |
Mutation of which gene is implicated in the Christianson syndrome? | Christianson syndrome is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. | Interstitial deletions of chromosome band Xq26.3 are rare. We report on a
2-year-old boy in whom array comparative genomic hybridization analysis revealed
an interstitial 314 kb deletion in Xq26.3 affecting SLC9A6 and FHL1. Mutations
in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic
for... |
What is Eteplirsen (Exondys 51)? | Eteplirsen (Exondys 51) is an antisense oligonucleotide designed to induce exon 51 skipping that is developed by Sarepta Therapeutics. Intravenous eteplirsen has received accelerated approval from the US FDA for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation of the DMD gene ame... | AVI-4658 is a phosphorodiamidate morpholino oligomer (PMO) designed to induce
skipping of dystrophin exon 51 and restore its expression in patients with
Duchenne muscular dystrophy (DMD). Preclinically, restoration of dystrophin in
the dystrophic mdx mouse model requires skipping of exon 23, achieved with the
mouse... |
What are the SINEUPs? | SINEUPs represent a new class of natural and synthetic antisense long non-coding RNAs that activate translation. These molecules have been named SINEUPs since their function requires the activity of an embedded inverted SINEB2 sequence to UP-regulate translation. Natural SINEUPs suggest that embedded Transposable Eleme... | Antisense (AS) transcripts are RNA molecules that are transcribed from the
opposite strand to sense (S) genes forming S/AS pairs. The most prominent
configuration is when a lncRNA is antisense to a protein coding gene. Increasing
evidences prove that antisense transcription may control sense gene expression
acting ... |
What is trichotillomania? | Trichotillomania is a hair pulling disorder. | Trichotillomania (hair pulling disorder, HPD) is characterized by significant
psychological distress, childhood-onset, and, in adults, certain cognitive
deficits such as inhibitory control. A total absence of such literature exists
within pediatric HPD samples, including research investigating neurocognitive
aspect... |
What is the mechanism of action of raxibacumab? | Raxibacumab is a recombinant human IgG1 monoclonal antibody that binds the protective antigen of Bacillus anthracis, thus blocking toxin effects.
It is approved to treat inhalational anthrax. | BACKGROUND: Inhalational anthrax caused by Bacillus anthracis is associated with
high mortality primarily due to toxin-mediated injury. Raxibacumab is a human
IgG1lambda monoclonal antibody directed against protective antigen, a component
of the anthrax toxin.
METHODS: We evaluated the efficacy of raxibacumab as a p... |
What is the effect of CPEB3 binding to the CPE domain? | The cytoplasmic polyadenylation element (CPE) is the binding platform for CPE-binding protein (CPEB), which promotes polyadenylation-induced translation. | Nearly two decades ago, Xenopus oocytes were found to contain mRNAs harboring a
small sequence in their 3' untranslated regions that control cytoplasmic
polyadenylation and translational activation during development. This
cytoplasmic polyadenylation element (CPE) is the binding platform for
CPE-binding protein (CP... |
Is SUMOylation a post-translational modification in eukaryotes? | Yes, SUMOylation that is the conjugation of target proteins with SUMO (small ubiquitin-related modifier), is a type of post-translational modification in eukaryotes. | Post-translational modification is a major mechanism by which protein function
is regulated in eukaryotes. Instead of single-site action, many proteins such as
histones, p53, RNA polymerase II, tubulin, Cdc25C and tyrosine kinases are
modified at multiple sites by modifications like phosphorylation, acetylation,
me... |
What is the Shelterin complex? | Human telomeres are associated with the shelterin complex which consists of six telomere-associated proteins that specifically bind to telomeric DNA. Alterations or removal of individual shelterin components would lead to telomere uncapping and telomere dysfunction, resulting in cellular senescence and transformation t... | Telomeres interact with numerous proteins, including components of the shelterin
complex, whose alteration, similarly to proliferation-induced telomere
shortening, initiates cellular senescence. In tumors, telomere length is
maintained by Telomerase activity or by the Alternative Lengthening of Telomeres
mechanism,... |
What disease is the drug aducanumab targeting? | Aducanumab is an anti-Aβ antibody being developed for the treatment of Alzheimer's disease (AD). | Despite continuing debate about the amyloid β-protein (or Aβ hypothesis, new
lines of evidence from laboratories and clinics worldwide support the concept
that an imbalance between production and clearance of Aβ42 and related Aβ
peptides is a very early, often initiating factor in Alzheimer's disease (AD).
Confirma... |
Which human syndromes have been detected with Fluorescence in situ hybridization (FISH)? | To explore the clonal evolution of monosomy 7 in patients with aplastic anemia (AA).Monosomy 7 (-7) in 81 AA patients with normal karyotype at diagnosis and 46 AA treated with immunosuppressive therapy (IST) and more than 6 months of recombinant human granulocyte colony-stimulating factor (rhuG-CSF) were detected by in... | A 15-year-old male with myelodysplastic syndrome (MDS) characterized by monosomy
7 was cytogenetically evaluated by metaphase karyotyping and fluorescence in
situ hybridization (FISH) of interphase cells at six different points during the
course of his disease. At diagnosis, there was complete agreement between
met... |
List symptoms of EAST syndrome. | Epilepsy, ataxia, sensorineural deafness, and tubulopathy comprise EAST syndrome that is associated with recessive mutations in the KCNJ10 gene. | Mutations of the KCNJ10 (Kir4.1) K(+) channel underlie autosomal recessive
epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy
(EAST) syndrome. We investigated the localization of KCNJ10 and the homologous
KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in
our... |
When did the polio vaccine becomes available? | Inactivated poliovirus vaccine (IPV), developed in the USA by Jonas Salk in the early 1950s, was field tested in 1954, | It has been suggested that the human immunodeficiency virus (HIV), and thus the
acquired immunodeficiency syndrome (AIDS) it causes, was inadvertently
introduced to humans by the use of an oral polio vaccine (OPV) during a
vaccination campaign launched by the Wistar Institute, Philadelphia, PA, USA, in
the Belgian ... |
Is Annexin V an apoptotic marker? | Yes, annexin V is an early apoptotic marker. | In the early stages of apoptosis changes occur at the cell surface, which until
now have remained difficult to recognize. One of these plasma membrane
alterations is the translocation of phosphatidylserine (PS) from the inner side
of the plasma membrane to the outer layer, by which PS becomes exposed at the
externa... |
Which are the lipid lowering drugs administered in patients with Coronary Artery Disease (CAD)? | The lipid lowering drugs administered in patients with Coronary Artery Disease (CAD) are:
1) Statins
2) Fibrates
3) Resins
4) Niacin
5) Cholesterol absorption-inhibiting drugs. | BACKGROUND: Recent studies have confirmed that treatment with lipid-lowering
drugs decreases cardiovascular morbidity and mortality in primary as well as
secondary prevention of cardiovascular diseases. In 1999, new Swiss
recommendations for treatment with lipid-lowering drugs have been published. We
therefore perf... |
What are PD-1 inhibitors? | The programmed death-1 (PD-1) pathway negatively regulates T-cell activation and has an important role in regulating antitumor host immunity. Monoclonal antibodies directed against PD-1 or the PD-1 ligand (PD-L1) are used to treat cancer. | The receptor programmed death 1 (PD-1) inhibits T cell proliferation and plays a
critical role in suppressing self-reactive T cells, and it also compromises
antiviral and antitumor responses. To determine how PD-1 signaling inhibits T
cell proliferation, we used human CD4(+) T cells to examine the effects of PD-1
s... |
Is the protein lefty an inhibitor of nodal? | Yes, lefty is an inhibitor of nodal. | The nodal signaling pathway has been shown to play crucial roles in inducing and
patterning the mesoderm and endoderm, as well as in regulating neurogenesis and
left-right axis asymmetry. Here, we present the first complete cDNA and genomic
sequences as well as the promoter predication of the Dnah9 gene in the Japan... |
List drugs withdrawn from the market for cardiovascular adverse events. | Over the years, a number of different drugs have been withdrawn for Cardiotoxicity. Drugs like Clobutinol, that induce cardiac arrhythmias by a blockade of the potassium channel coded by the hERG channel, sibutramine for weight loss and Cox2 inhibitors, Rofecoxib and Valdecoxib have been withdrawn from the market. | In a very short time, COX-2 enzyme inhibitors have gone from the darlings to the
pariahs of the pharmaceutical industry. These drugs were developed based on the
hypothesis whereby selective inhibition of the COX enzyme would lead to
reduction in pain and inflammation without associated gastrointestinal and
bleeding... |
Is Migalastat used for treatment of Fabry Disease? | Yes, Migalastat is approved for treatment of Fabry disease. Migalastat is an oral pharmacological chaperone developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking. | Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA
gene. Fabry disease (FD) is an X-linked lysosomal storage disorder with a
heterogeneous spectrum of clinical manifestations that are caused by the
deficiency of α-galactosidase A (α-Gal-A) activity. Although useful for
diagnosis in males... |
Where are Paneth cells located? | Paneth cells are located in the intestinal crypt base columnar cells (CBCCs). | In about 70% of patients Crohn's disease (CD) affects the small intestine. This
disease location is stable over time and associated with a genetic background
different from isolated colonic disease. A characteristic feature of small
intestinal host defense is the presence of Paneth cells at the bottom of the
crypts... |
Which are the types of viral meningitis? | Aseptic meningitis is the most common type of meningitis and is characterized by meningeal inflammation that is not linked to identifiable bacterial pathogens in cerebrospinal fluid (CSF). It can be originated from infection from:
1) Varicella-zoster virus (VZV)
2) Herpes simplex types I and II (HSV-1, HSV-2)
3) Epstei... | The majority of viral meningitis cases is known to be due to ECHO virus
infections on one hand, and mumps on the other. While the latter can be
diagnosed by IgM antibody detection from one serum sample in the acute stage,
diagnosis of enterovirus infections is by virus isolation and typing. An
IgM-antibody test for... |
What are the different classes of orally administered drugs used to treat diabetes | There are a number of classes of medications tha are used to treat Type 2 diabetes. These include biguanides like metformin, which decreased hepatic glucose release; sulfonyureas like Glimepride, metglitinides like repaglin and d-phenylalanine derivatives, all of which stimulate pancreatic insulin release; Glitizones o... | Diabetes mellitus is a multifaceted disease which intervenes in the personal
lives of those afflicted in many different ways. In this study prescription drug
use among diabetics was analyzed in order to shed light on the characteristics
of diabetic morbidity. Prescription drug use among diabetics and non-diabetics
... |
Which pipelines are used for analyzing data from ChIP-nexus experiments? | PeakXus and Q-nexus enable comprehensive transcription factor binding site discovery from ChIP-nexus experiments. | MOTIVATION: Transcription factor (TF) binding can be studied accurately in vivo
with ChIP-exo and ChIP-Nexus experiments. Only fraction of TF binding mechanisms
are yet fully understood and accurate knowledge of binding locations and
patterns of TFs is key to understanding binding that is not explained by simple
po... |
What do statins do? | Statins lower high cholesterol | Recent large clinical trials have demonstrated that HMG-CoA reductase
inhibitors, or statins, markedly reduce morbidity and mortality when used in the
primary and secondary prevention of cardiovascular disease. It has been
established that the benefits of statin therapy in cardiovascular disease can be
explained no... |
Which cells secretes alpha defensin 5? | Human enteric α-defensins (HD5 and HD6), major antimicrobial peptides produced by Paneth cells in the intestine, play important roles in intestinal innate immunity. | Human enteric α-defensins (HD5 and HD6), major antimicrobial peptides produced
by Paneth cells in the intestine, play important roles in intestinal innate
immunity. Since their expression is decreased in Crohn's disease (CD), with
decreased expression being more pronounced in the presence of NOD2 mutations, it
woul... |
Do statins cause diabetes? | The relationship between T2DM and statins is further complicated since these drugs can cause new onset diabetes (NOD) although there is an overall benefit in terms of preventing vascular events. | BACKGROUND: The survival benefit of statins in nontrial populations of persons
with diabetes is unknown.
OBJECTIVE: : We sought to determine all-cause mortality in fiscal year 2001
(FY01) after statin initiation in FY 99 and/or FY00 in individuals with diabetes
in the Veterans Healthcare Administration (VHA).
METHOD... |
What is the effect of nocodazole cell treatment? | Nocodazole trigger mitotic arrest. | Zinc finger proteins are a massive, diverse family of proteins that serve a wide
variety of biological functions. However, the roles of them during meiosis are
not yet clearly defined. Here, we report that Zfp207 localizes at the
kinetochores during mouse oocyte meiotic maturation. Depletion of Zfp207 leads
to a si... |
What is Path2PPI? | Path2PPI is an R package to identify protein-protein interaction (PPI) networks for fully sequenced organisms for which nearly none PPI are known. Path2PPI predicts PPI networks based on sets of proteins from well-established model organisms, providing an intuitive visualization and usability. It can be used to combine... | |
SPAG5 was implicated in which cancers? | SPAG5 was implicated in prostate cancer, lung cancer and cervical cancer. | OBJECTIVES: Despite the well-defined histological types of non-small cell lung
cancer (NSCLC), a given stage is often associated with wide-ranging survival
rates and treatment outcomes. This disparity has led to an increased demand for
the discovery and identification of new informative biomarkers.
METHODS: In the c... |
What are some of the effects of Zika Virus in infected individuals? | While most of the symptoms of zika virus are relatively mild, zika virus in pregnant mothers can cause microcephaly and other congenital defects in the fetus. | Conflict of interest statement: Disclosure: Jason C. Kwong has received
ficial assistance from Pfizer to attend an international conference. Karin
Leder has received funding from GlaxoSmithKline for a study on hepatitis B, and
ficial assistance from GlaxoSmithKline and Sanofi Pasteur to attend
international confere... |
What is the function of Oseltamivir when administered during flu? | Oseltamivir (has known by its brand name 'Tamiflu') is a prodrug, requiring ester hydrolysis for conversion to the active form, Oseltamivir carboxylate. Oseltamivir is the first orally active neuraminidase inhibitor and it is an antiviral drug for the treatment of Swine Flu. | BACKGROUND: Safe and effective antiviral agents are needed to prevent infection
with influenza A and B virus. Oseltamivir (GS4104), which can be administered
orally, is the prodrug of GS4071, a potent and selective inhibitor of
influenzavirus neuraminidases. We studied the use of oseltamivir for long-term
prophylax... |
What is the composition of the gamma-secretase complex? | Gamma-secretase is a multisubunit enzyme complex which is consists of four proteins: presenilin 1 (PS1) or presenilin 2 (PS2), nicastrin, Aph-1 and Pen-2. | Presenilin heterodimers apparently contain the active site of gamma-secretase, a
polytopic aspartyl protease involved in the transmembrane processing of both the
Notch receptor and the amyloid-beta precursor protein. Although critical to
embryonic development and the pathogenesis of Alzheimer's disease, this proteas... |
List kinases that phosphorylates the protein Bora. | During cell division Bora becomes multiply phosphorylated by a variety of cell cycle kinases, including Aurora A and Plk1, and GSK3β and Cdk1 albeit at distinctive sites. | Cdk1 and Plk1/Plx1 activation leads to their inactivation through negative
feedback loops. Cdk1 deactivates itself by activating the APC/C, consequently
generating embryonic cell cycle oscillations. APC/C inhibition by the mitotic
checkpoint in somatic cells and the cytostatic factor (CSF) in oocytes sustain
the mi... |
Are deletions of chromosomal regulatory boundaries associated with congenital disease? | Yes. Enhancer adoption caused by deletions of regulatory boundaries may contribute to a substantial minority of copy-number variation phenotypes and should thus be taken into account in their medical interpretation. | BACKGROUND: Recent data from genome-wide chromosome conformation capture
analysis indicate that the human genome is divided into conserved megabase-sized
self-interacting regions called topological domains. These topological domains
form the regulatory backbone of the genome and are separated by regulatory
boundary... |
What is the role of the UBC9 enzyme in the protein sumoylation pathway? | The small ubiquitin-like modifier (SUMO) pathway in eukaryotes is an essential post-translational modification required for a variety of cellular processes, development and organelle biogenesis. SUMO-conjugating enzyme (Ubc9) is the sole conjunction enzyme in the SUMO pathway. | The activity of the p53 tumor suppressor protein and the c-Jun protooncogene is
regulated by posttranslational modifications, such as phosphorylation or
ubiquitination. In addition, covalent attachment of the ubiquitin-like modifier
SUMO appears to modulate their transcriptional activity. Sumoylation proceeds
via a... |
Can the Micro-C XL method achieve mononucleosome resolution? | Yes. Micro-C XL is an improved method for analysis of chromosome folding at mononucleosome resolution. | We present Micro-C XL, an improved method for analysis of chromosome folding at
mononucleosome resolution. Using long crosslinkers and isolation of insoluble
chromatin, Micro-C XL increases signal-to-noise ratio. Micro-C XL maps of
budding and fission yeast genomes capture both short-range chromosome fiber
features... |
Can Diabetes be caused by a defect in a potassium chanel? | Mutations in the KATP channel can lead to neonatal diabetes. | OBJECTIVE: The increased perinatal morbidity in diabetes may be partly related
to vascular dysfunction. Because potassium channels play an important role in
the regulation of vascular tone, this study explores the impact of diabetes on
potassium channel function in the fetoplacental vascular bed.
STUDY DESIGN: Vascu... |
Which fimA genotypes are associated with disease? | FimA has been characterized as an important virulence factor for P. gingivalis, and many studies, both animal experiments and clinical investigations, have characterized fimA genotypes II, Ib, and IV to be associated with disease (periodontitis and cardiovascular disease) | OBJECTIVE: Long fimbriae (FimA) are important virulence factors of Porphyromonas
gingivalis. Based on the diversity of the fimA gene, this species is classified
into 6 genotypes. This study surveyed samples from primary endodontic infections
for the presence of these P. gingivalis fimA variants.
STUDY DESIGN: Genomi... |
Is rucaparib used for ovarian cancer treatment? | Yes, rucaparib is a PARP inhibitor that is used for ovarian cancer treatment. | Here, we investigate the potential role of the PARP inhibitor rucaparib (CO-338,
formerly known as AG014699 and PF-01367338) for the treatment of sporadic
ovarian cancer. We studied the growth inhibitory effects of rucaparib in a panel
of 39 ovarian cancer cell lines that were each characterized for mutation and
me... |
What is the role of cohesins at the IFNG locus? | Cohesins form cell-type-specific long-range chromosomal cis-interactions at the developmentally regulated IFNG locus. Hence, the ability of cohesin to constrain chromosome topology is used not only for the purpose of sister chromatid cohesion, but also to dynamically define the spatial conformation of specific loci. Th... | Cohesin-mediated sister chromatid cohesion is essential for chromosome
segregation and post-replicative DNA repair. In addition, evidence from model
organisms and from human genetics suggests that cohesin is involved in the
control of gene expression. This non-canonical role has recently been
rationalized by the fi... |
Describe Wellens' Syndrome. | Wellens Syndrome (WS) is a condition characterized by typical changes in ECG, which are biphasic T-wave inversions (less common) or symmetric and deeply inverted T waves (including 75%) in lead V2-V3 chest derivations. | The pattern of clinical findings and electrocardiography (ECG) changes known as
Wellens' syndrome is associated with significant stenosis of the proximal left
anterior descending coronary artery. Cases can be classified according to the
ECG pattern into type 1 (biphasic T waves) or type 2 (deeply inverted T waves,
... |
Which human disease is associated with mutated UBQLN2 | Ggene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS). | Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in
adults. Classical ALS is characterized by the death of upper and lower motor
neurons leading to progressive paralysis. Approximately 10 % of ALS patients
have familial form of the disease. Numerous different gene mutations have been
fo... |
Which ApoE isoform is associated with hyperlipoproteinemia? | Type III hyperlipoproteinemia (HLP) is characterized by the accumulation of remnant lipoproteins in the plasma and it is associated with ApoE2 isoform. ApoE2 binds poorly to low density lipoprotein receptors, resulting in defective remnant lipoprotein clearance. | Type III hyperlipoproteinemia typically is associated with homozygosity for
apolipoprotein (apo) E2(Arg158----Cys). Domit expression of type III
hyperlipoproteinemia associated with apoE phenotype E3/3 is caused by
heterozygosity for a human apoE variant, apoE3(Cys112----Arg, Arg142----Cys).
However, this apoE3 var... |
Could hypophosphatemic rickets cause craniosynostosis? | Yes, hypophosphatemic rickets could cause craniosynostosis. | A report of three cases of craniosynostosis in X-linked hypophosphataemic
rickets (XLH) is presented. The literature is reviewed, suggesting that
craniosynostosis is relatively common in XLH and that boys may be more at risk
than girls. It is recommended that radiological screening be offered to all
patients with X... |
Is vortioxetine effective for treatment of depression? | Yes. Vortioxetine is the most recently approved medication for the treatment of major depressive disorder. | Lu-AA21004, an oral, multimodal serotonergic agent, is currently under
development by H Lundbeck and Takeda Pharmaceutical, for the potential treatment
of depression and anxiety. Lu-AA21004 belongs to a novel chemical class of
antidepressant agents, the bisarylsulfanyl amines, and possesses a novel
pharmacological ... |
Which server is used for simulation of macromolecular diffusional association? | Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulatio... | Macromolecular interactions play a crucial role in biological systems.
Simulation of diffusional association (SDA) is a software for carrying out
Brownian dynamics simulations that can be used to study the interactions between
two or more biological macromolecules. webSDA allows users to run Brownian
dynamics simul... |
Can beans induce apoptosis? | White kidney bean lectin has been shown to exert anti-proliferative and apoptotic effects on cancer cells | Treatment of human stomach cancer KATO III cells with hot-water extracts from
adzuki beans led to their growth inhibition as well as apoptosis induction.
There are morphological changes in the cultured cells treated with the extracts,
by which DNA fragmentation characteristic of apoptosis was actualized both
concen... |
What is the function of transthyretin in cerebrospinal fluid? | Transthyretin (TTR) is a protein synthesized in the choroid plexus, which forms the blood-cerebrospinal fluid barrier. TTR is the physiological carrier of thyroxine (T4) and retinol from the blood into the cerebrospinal fluid and their distribution in the brain. The transport of T4 is important for normal development ... | This paper reviews studies on the synthesis and secretion of the thyroid
hormone-binding protein, transthyretin by the choroid plexus. The secretion of
transthyretin by the choroid plexus into the cerebrospinal fluid may have an
important function in the transport of thyroxine from the blood to the brain.
The trans... |
Can you define iatrogenic disease? | An iatrogenic disease is one that arises from treatment of another illness, such as an arrythmia that results from surgery or and hospital aquired infection in an immunocompromised patient. | A report of a patient with granulomatous peritonitis following general surgery
is presented. Laparoscopy was performed as the final diagnostic procedure.
Prevention is the remedy for this iatrogenic problem. A 3-year-old child diagnosed as having acute lymphatic leukemia (ALL), developed
meningeal leukemia 36 month... |
Where do the Schwann cells and melanocytes originate from? | Schwann cells and melanocytes originate from the multipotent population of neural crest cells. | The presence of melanin granules in Schwann cells of unmyelinated nerve fibres
in the normal skin of a black woman is demonstrated by electron microscopy.
Pathological conditions associated with the differentiation ability of Schwann
cells for melanogenic are reviewed. This capacity may be due to the common
origin ... |
Please list 3 diseases associated with the PIEZO2 gene. | Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. | Mechanotransduction, the pathway by which mechanical forces are translated to
biological signals, plays important but poorly characterized roles in
physiology. PIEZOs are recently identified, widely expressed, mechanically
activated ion channels that are hypothesized to play a role in
mechanotransduction in mammals... |
Is treatment resistant depression related to vitamin B9? | Treatment with SAMe, as well as with various formulations of folates and analogues, appears to be efficacious and well tolerated in reducing depressive symptoms in treatment resistant depression. | BACKGROUND: Although major depressive disorder (MDD) is a treatable disease, the
remission rates associated with antidepressant monotherapy are still far from
optimal. Folate is an inexpensive, easily tolerated natural augmenting agent,
which has been reported to improve medication treatment outcomes in patients
wi... |
Where is the protein slitrk1 localized? | Slitrk1 is enriched in postsynaptic fractions and is localized to excitatory synapses. | Slitrks are a family of structurally related transmembrane proteins belonging to
the leucine-rich repeat (LRR) superfamily. Six family members exist (Slitrk1-6)
and all are highly expressed in the central nervous system (CNS). Slitrks have
been implicated in mediating basic neuronal processes, ranging from neurite
... |
Describe clinical manifestation of the Harlequin syndrome. | Harlequin syndrome is characterized by the sudden onset of unilateral facial flushing and sweating, often preceded by exercise, excessive heat, or, rarely, regional anesthesia. It is a rare autonomic disorder due to a hemifacial cutaneous sympathetic denervation. | A 45-year-old woman presented with a 10 year history of asymmetrical facial
flushing and sweating after exertion or in hot weather. During these episodes
the right side of her face remained dry and white, while the left side normally
flushed. Sweating was impaired on the left side in the limbs and trunk. She also
h... |
What is the role of the constitutive photomorphogenesis 9 signalosome (CSN)? | The constitutive photomorphogenesis 9 (COP9) signalosome (CSN) is a protein complex involved in the ubiquitin proteasome system and plays a role in regulating the degradation of polyubiquitinated proteins. The mammalian CSN is also involved in embryonic development, in cancer and the DNA damage response, whereas in pla... | SCF ubiquitin ligases control various processes by marking regulatory proteins
for ubiquitin-dependent proteolysis. To illuminate how SCF complexes are
regulated, we sought proteins that interact with the human SCF component CUL1.
The COP9 signalosome (CSN), a suppressor of plant photomorphogenesis, associated
with... |
Is adalimumab effective for hidradenitis suppurativa? | Yes, Adalimumab, a recombinant, fully humanized, anti-tumor necrosis factor alpha (anti-TNF-α) monoclonal antibody, is the only officially approved treatment for the management of moderate-to-severe hidradenitis suppurativa. | Adalimumab is a biological agent, one of the tumour necrosis factor-alpha
inhibitors. Pivotal studies evaluating its efficacy in plaque psoriasis
(CHAMPION, REVEAL) and psoriatic arthritis (PsA) (ADEPT) were carried out in
recent years. Adalimumab proved highly effective in psoriasis patients and in
PsA patients pr... |
What is Legg-Calvé-Perthes Disease | Legg-Calve-Perthes disease is idiopathic avascular necrosis of the hip, usually occurring in pediatric populations. | BACKGROUND: Legg-Perthes disease is associated with ischemia of the capital
femoral epiphysis in children. Thrombophilia has been implicated as a potential
cause of the condition, and screening of patients with Legg-Perthes disease for
thrombophilia has been recommended. We analyzed the value of screening for
inher... |
What is promoted by ERAP1-ERAP2 dimerization? | ERAP1-ERAP2 dimerization increases peptide-trimming efficiency. | The endoplasmic reticulum aminopeptidases (ERAP)1 and ERAP2 play a critical role
in the production of final epitopes presented by MHC class I molecules.
Formation of heterodimers by ERAP1 and ERAP2 has been proposed to facilitate
trimming of epitope precursor peptides, but the effects of dimerization on ERAP
functi... |
What is plantar fasciitis | Plantar fascia (PF) disorders like plantar fasciitis commonly cause heel pain and disability and are thought to be degenerative rather than inflammatory in nature | The authors review histologic findings from 50 cases of heel spur surgery for
chronic plantar fasciitis. Findings include myxoid degeneration with
fragmentation and degeneration of the plantar fascia and bone marrow vascular
ectasia. Histologic findings are presented to support the thesis that "plantar
fasciitis" i... |
Which is the enzymatic activity of OTULIN? | OTULIN is a deubiquitinase, that specifically cleaves Met1-linked polyUb. | The linear ubiquitin (Ub) chain assembly complex (LUBAC) is an E3 ligase that
specifically assembles Met1-linked (also known as linear) Ub chains that
regulate nuclear factor κB (NF-κB) signaling. Deubiquitinases (DUBs) are key
regulators of Ub signaling, but a dedicated DUB for Met1 linkages has not been
identifie... |
List diseases that could be targeted by disaggregases? | UBQLN2 acts with the HSP70-HSP110 disaggregase machinery to clear protein aggregates via the 26S proteasome. UBQLN2 recognizes client-bound HSP70 and links it to the proteasome to allow for the degradation of aggregated and misfolded proteins. We further show that this process is active in the cell nucleus, where anoth... | The structural basis by which Hsp104 dissolves disordered aggregates and prions
is unknown. A single subunit within the Hsp104 hexamer can solubilize disordered
aggregates, whereas prion dissolution requires collaboration by multiple Hsp104
subunits. Here, we establish that the poorly understood Hsp104 N-terminal do... |
Can NEECHAM Confusion Scale be used for evaluation of postoperative delirium? | Yes, NEECHAM Confusion Scale can be used for evaluation of postoperative delirium. | PURPOSE: To determine if elderly patients undergoing hip surgery became
delirious postoperatively and, if so, whether age and/or time of day were
related to delirium.
DESIGN: Repeated measures.
SAMPLE: A convenience sample of 70 hip surgery patients 60 years of age and
older at a large Midwestern teaching hospital w... |
What is adhesive capsulitis | Adhesive capsulitis also known as "frozen shoulder" is characterized by painful, gradual loss of active and passive shoulder motion resulting from fibrosis and contracture of the joint capsule. | Adhesive capsulitis of the shoulder is an idiopathic condition characterized
clinically by pain and limitation of movement. The characteristic arthrographic
features are those of limited capacity of the joint, pain during injection, and
retracted recesses. Progressive distension of the capsule with 1% lidocaine and ... |
Describe the applicability of Semantic MediaWiki in the case of FANTOM5 | To make the heterogeneous data set accessible and useful for investigators, a web-based database called Semantic catalog of Samples, Transcription initiation And Regulators (SSTAR) has been developed. SSTAR utilizes the open source wiki software MediaWiki along with the Semantic MediaWiki (SMW) extension, which provide... | Author information:
(1)Division of Genomic Technologies (DGT), RIKEN Center for Life Science
Technologies (CLST), Kanagawa 230-0045, Japan.
(2)RIKEN Omics Science Center (OSC), 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama
230-0045, Japan.
(3)Division of Genomic Technologies (DGT), RIKEN Center for Life Science
Technolog... |
Is there an association between Muenke Syndrome and FGFR3 gene mutation? | Yes, Muenke syndrome is caused by point mutation (C749G) in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. It affects 1 in 30,000 newborns and accounts for 25% to 30% of genetic causes of craniosynostosis. | Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs
between 1 in 15,000 and 40,000 live births. More than 90% of cases are sporadic
and there is, on average, an increased paternal age at the time of conception of
affected individuals. More then 97% of persons with achondroplasia have a
G... |
Which R package is used for visualization of linear and circular karyotypes? | The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The output graphics, saved in two different formats (EPS and SVG), can be easily imported to and modified in presentation and image-editing computer progr... | Species-specific sets of chromosomes-karyotypes-are traditionally depicted as
linear ideograms with individual chromosomes represented by vertical bars.
However, linear visualization has its limitations when the shared collinearity
and/or chromosomal rearrangements differentiating two or more karyotypes need to
be ... |
Has small pox been eradicated from the world? | smallpox is now eradicated. | At the beginning of this century the compulsory vaccination and revaccination
which was legally founded after the introduction of the vaccination by Jenner
(1796) led to the removal of the smallpox in Europe and Northern America.
However, up to the sixties in the developing countries of Asia, Africa as well
as of S... |
Where is Akkermansia muciniphila found? | Akkermansia muciniphila is a Gram-negative mucin-degrading bacterium that resides in the gastrointestinal tracts of humans and animals. | OBJECTIVE: Individuals with obesity and type 2 diabetes differ from lean and
healthy individuals in their abundance of certain gut microbial species and
microbial gene richness. Abundance of Akkermansia muciniphila, a mucin-degrading
bacterium, has been inversely associated with body fat mass and glucose
intoleranc... |
Is there alternative polyadenylation during zebrafish development? | Yes. There is extensive alternative polyadenylation during zebrafish development. | The post-transcriptional fate of messenger RNAs (mRNAs) is largely dictated by
their 3' untranslated regions (3' UTRs), which are defined by cleavage and
polyadenylation (CPA) of pre-mRNAs. We used poly(A)-position profiling by
sequencing (3P-seq) to map poly(A) sites at eight developmental stages and
tissues in th... |
Which NADPH oxidase family member requires interaction with NOXO1 for function? | NADPH oxidase 1 (NOX1) requires interaction with NOXO1 for function. | The members of the NOX family of enzymes are expressed in a variety of tissues
and serve a number of functions. There is a high level of conservation of
primary protein sequence, as well as functional features, although specialized
responses are beginning to emerge. In this context, our data demonstrate that
the NO... |
Are alterations in ultraconserved elements implicated in breast cancer? | Yes. SNPs in ultraconserved elements (UCEs) might be associated with cancer risk. | Ultraconserved elements (UCEs) are segments of >200 bp length showing absolute
sequence identity between orthologous regions of human, rat and mouse genomes.
The selection factors acting on these UCEs are still unknown. Recent studies
have shown that UCEs function as long-range enhancers of flanking genes or are
in... |
What is the mechanism of action of Osimertinib? | Osimertinib is a third-generation irreversible tyrosine kinase inhibitor of both activating EGFR mutations and resistance-associated T790M point mutation. | EGFR mutated lung cancer accounts for a significant subgroup of non-small-cell
lung cancer (NSCLC). Over the last decade, multiple EGFR tyrosine kinase
inhibitors (EGFR-TKIs) have been developed to target mutated EGFR. However,
there is little information regarding mutation specific potency of EGFR-TKIs
against var... |
What is Bartter syndrome? | All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism | Five patients with pseudo-Bartter's syndrome from surreptitious diuretic abuse
were compared with six patients with true Bartter's syndrome, diagnosed as a
normotensive, hyperreninaemic, hypokalaemic metabolic alkalosis with normal
urine chloride excretion, low CH2O/(CH2O+CCl) ratio during maximal water
diuresis an... |
Is there any tool that facilitates the functional analysis of cis-regulatory regions in zebrafish? | Yes. The zebrafish enhancer detection (ZED) vector is a tool that facilitates transgenesis and the functional analysis of cis-regulatory regions in zebrafish. | |
List RNA modifications databases | RMBase and MODOMICS | MODOMICS is a database of RNA modifications that provides comprehensive
information concerning the chemical structures of modified ribonucleosides,
their biosynthetic pathways, RNA-modifying enzymes and location of modified
residues in RNA sequences. In the current database version, accessible at
http://modomics.ge... |
Please list the 3 findings in HELLP syndrome. | hemolysis, elevated liver enzymes and low platelets constitute the hellp syndrome. | OBJECTIVE: Our objective was to categorize the histologic findings in the liver
in patients with HELLP syndrome (hemolysis, elevated liver enzymes, and low
platelet count) and to correlate these findings with the severity of clinical
laboratory abnormalities.
STUDY DESIGN: Eleven patients with laboratory criteria fo... |
Which mutated gene is associated with Waardenburg and Tietz syndromes? | Mutations in microphthalmia-associated transcription factor (MITF) gene cause Waardenburg and Tietz syndromes. | On some occasions, mutations of a gene cause different syndromes that may have
similar phenotypes. For example, mutations of the MITF gene cause Waardenburg
syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz
syndrome (Smith et al, 1997). On other occasions, mutations of different genes
... |
List the three most abundant bacterial phyla present in mouse feces. | Firmicutes
Proteobacteria
Bacteroidetes | An extraction method was developed to recover high-quality RNA from rumen
digesta and mouse feces for phylogenetic analysis of metabolically active
members of the gut microbial community. Four extraction methods were tested on
different amounts of the same samples and compared for efficiency of recovery
and purity ... |
What gene is mutated in Sickle Cell Anemia? | Sickle cell anemia (SCA) is an autosomal recessive disease caused by by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. | Sickle-cell anemia results from an A leads to T transversion in the second
nucleotide of codon 6 of the beta-globin gene. We now report an uncommon
beta-thalassemia gene that contains a deletion of this nucleotide. Thus, one
mutation (GAG leads to GTG) produces sickle-cell anemia, while the other (GAG
leads to GG) ... |
What is the function of the Indian hedgehog protein in chondrocytes? | Indian hedgehog is a protein that regulates endochondral differentiation and ossification in both a parathyroid hormone-related protein (PTHrP)-dependent and -independent manner by activating transcriptional mediator Gli2 and is an essential factor for proper skeletal development. | Proper regulation of chondrocyte differentiation is necessary for the
morphogenesis of skeletal elements, yet little is known about the molecular
regulation of this process. A chicken homolog of Indian hedgehog (Ihh), a member
of the conserved Hedgehog family of secreted proteins that is expressed during
bone forma... |
What is the function of R-spondin 1 and noggin in non-damaged gallbladders? | R-spondin 1 and noggin facilitate expansion of resident stem cells from non-damaged gallbladders. | |
List the classical triad of symptoms of the Melkersson–Rosenthal syndrome. | The Melkersson-Rosenthal syndrome consists of the classical triad of symptoms:
1) orofacial oedema
2) fissured tongue (lingua plicata) and
3) facial paralysis. | Melkersson-Rosenthal syndrome (MRS) is characterized by the triad of facial
paralysis, facial oedema, and lingua plicata in association with other symptoms,
such as headache and mental changes. Because the origin of this syndrome is
still unknown, only symptomatic treatment is possible. In 18 patients suffering
fro... |
Which disease is treated with taliglucerase alfa? | Taliglucerase alfa, the first available plant cell-expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease. | Gaucher disease is inherited as an autosomal recessive disorder. The absence of
β-glucocerebrosidase whose purpose is to cleave the glucose from ceramide
results in accumulation of glucocerebroside; storage of this glycolipid results
in Gaucher disease. There is tremendous clinical heterogeneity: prediction of
onse... |
What is formin associated with in the snail? | Formin is associated with Left-Right asymmetry in the pond snail and the frog. | While components of the pathway that establishes left-right asymmetry have been
identified in diverse animals, from vertebrates to flies, it is striking that
the genes involved in the first symmetry-breaking step remain wholly unknown in
the most obviously chiral animals, the gastropod snails. Previously, research o... |
What is the major difference between eucaryotes and procaryotes? | Eucaryotes have a nucleolus, Procaryotes do not. Eucrayotes have a nuclear membrane, organelles and differ in transcription and translation. Procaryotes have polycistronic RNA and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in euc... | In eucaryotes the 5'-terminal guanylate moiety of mature tRNAHis is added
posttranscriptionally. To determine whether the same mechanism occurs in
procaryotes, we processed in vitro-derived Escherichia coli tRNAHis precursors
to mature tRNA, either in E. coli extracts or by using pure M1-RNA, the
catalytic componen... |
What is the HSP70-HSP110 disaggregase machinery? | Clearance of misfolded and aggregated proteins is central to cell survival. UBQLN2 acts with the HSP70-HSP110 disaggregase machinery to clear protein aggregates via the 26S proteasome. UBQLN2 recognizes client-bound HSP70 and links it to the proteasome to allow for the degradation of aggregated and misfolded proteins. ... | Author information:
(1)Institute of Molecular, Cell and Systems Biology, College of Medical,
Veterinary and Life Sciences, Davidson Building, Henry Wellcome Lab of Cell
Biology, University of Glasgow, G12 8QQ Glasgow, UK; The MRC Protein
Phosphorylation and Ubiquitylation Unit, The Sir James Black Centre, College of... |
Has whole exome sequencing been performed in Alzheimer patients? | Yes, numerous whole exome sequencing studies of ALzheimer patients have been conducted. | Alzheimer's disease (AD) is a genetically complex disorder for which the
definite diagnosis is only accomplished postmortem. Mutations in 3 genes (APP,
PSEN1, and PSEN2) are known to cause AD, but a large number of familial cases do
not harbor mutations in these genes and several unidentified genes that contain
dis... |
Which is the genome browser database for DNA shape annotations? | 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 framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track for... | 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
... |
Is Stat4 a transcription factor? | Yes, Stat4 is a transcription factor.
Stat4 is a member of the signal transducer and activator of transcription (STAT) family of molecules that localizes to the cytoplasm. STAT4 regulates various genes expression as a transcription factor after it is phosphorylated, dimerizes and translocates to the nucleus. | STAT4 is a latent cytosolic factor that encodes a transcription factor
transmitting signals stimulated by cytokines. Previous studies with different
study designs in diverse ethnic populations have assessed the influence of STAT4
rs7574865 polymorphism on HBV-induced HCC risk. The aim of the current study was
to in... |
Have the promoter regions of the genes implicated in Rett Syndrome been characterized with CAGE? | Yes. Promoter regions of the genes implicated in Rett Syndrome have been characterized using CAGE. |
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