question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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Are Toll-like receptors (TLRs) induced by microbes? | Yes,
Gram-negative bacteria and endogenous molecules coordinate to trigger inflammatory cascades via Toll-like receptor 4 to induce excessive expression of cytokines such as tumor necrosis factor-α and to activate NLRP3 inflammasome, a multiprotein complex that processes pro-interleukin-1β into its mature form. | Host-directed therapies are gaining considerable impetus because of the
emergence of drug-resistant strains of pathogens due to antibiotic therapy.
Therefore, there is an urgent need to exploit alternative and novel strategies
directed at host molecules to successfully restrict infections. The C-type
lectin recepto... |
What is a decoy exosome? | exosomes display a large repertoire of tumor antigens that induce autoantibodies and exert a decoy function against complement-mediated cytotoxicity. | Immune evasion from NK surveillance related to inadequate NK-cell function has
been suggested as an explanation of the high incidence of relapse and fatal
outcome of many blood maligcies. In this report we have used Jurkat and Raji
cell lines as a model for studies of the NKG2D receptor-ligand system in T-and B
cel... |
Can you summarize Myasthenia Gravis? | Myasthenia gravis (MG) is a neuromuscular disease which affects the central nervous system, dorsal root ganglia of the spinal cord, heart and in certain cases the pancreas. Two thirds of MG cases result from sporadic genetic mutations, not inheritance, but their offspring may inherit it from them. | Myasthenia gravis is a common autoimmune disorder characterized by the presence
of pathogenic antibodies directed against the acetylcholine receptor. Patients
present with variable degrees and distribution of fluctuating weakness at times
life threatening. Clinical manifestations, establishment of diagnosis, the
na... |
What 3 disorders are commonly associated with Kaufman-McKusick syndrome? | McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children. It is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. | McKusick-Kaufman syndrome is an autosomal recessive multiple malformation
syndrome characterized by hydrometrocolpos and polydactyly. We report on a
patient with McKusick-Kaufman syndrome and severe hydrops. This case illustrates
the necessity of genetic evaluations for all patients with unexplained hydrops. The Kau... |
Is Ixodes a species of tick? | Ixodes is a family of hard ticks. | From September 1997 through July 1999, 300 individuals and 46 species of birds
were mist-netted and screened for ticks and spirochetes on St. Catherine's
Island, Liberty County, GA. Seventy-six (25%) of the birds were parasitized by a
meal intensity of 4.6 ticks. Seasonally, more birds were infested with ticks
duri... |
What is the active ingredient in the most common hand sanitizer? | Evaluation of a benzalkonium chloride hand sanitizer in reducing transient Staphylococcus aureus bacterial skin contamination in health care workers. | BACKGROUND: Alcohol-based hand rubs (ABHRs) are the primary method of hand
hygiene in health-care settings. ICPs increasingly are assessing ABHR product
efficacy data as improved products and test methods are developed. As a result,
ICPs need better tools and recommendations for how to assess and compare ABHRs.
METH... |
Which was the first oral drug for the treatment of multiple sclerosis by the US Food and Drug Administration (FDA)? | FTY720 (Fingolimod) was approved as the first oral drug for the treatment of multiple sclerosis by the US Food and Drug Administration (FDA) in 2010. | FTY720 (Fingolimod) is a known sphingosine-1-phosphate (S1P) receptor agonist
that exerts strong anti-inflammatory effects and was approved as the first oral
drug for the treatment of multiple sclerosis by the US Food and Drug
Administration (FDA) in 2010. FTY720 is mainly associated with unique functional
"antagon... |
Which S1P receptors does fingolimod bind to? | Pharmacologically, fingolimod has been characterized as a non-selective agonist of all of the S1P receptors (S1PR), with the exception of S1P2. | |
What was fingolimod synthesized from? | FTY720 (fingolimod, Gilenya®) was synthesized from myriocin, one of the metabolites of the fungus Isaria sinclairii known from traditional Chinese medicine for its antibacterial and energy boosting effect. | |
What does fingolimod do to the grey matter of the brain? | Fingolimod has been shown to reduce/prevent both focal and diffuse grey matter (GM) damage in active multiple sclerosis. The percentage of patients with new cortical lesions (CL) (13.5 vs. 89%, p < 0.001) and the percentage of GM volume change was lower in the fingolimod treated group (p < 0.001). The regional analysis... | INTRODUCTION: The mechanism of action of fingolimod within the central nervous
system and its efficacy in reducing/preventing both focal and diffuse grey
matter (GM) damage in active multiple sclerosis (MS) are not completely
understood.
METHODS: In this longitudinal, 2-year prospective, phase IV, single-blind study... |
What doses of fingolimod were administered during the FREEDOMS trial? | In the FREEDOMS trial fingolimod was administered at 0.5mg or 1.25mg doses. | BACKGROUND: Fingolimod 0·5 mg once daily is approved for treatment of relapsing
multiple sclerosis (MS). In the phase 3, 2-year FREEDOMS (FTY720 Research
Evaluating Effects of Daily Oral therapy in MS) study, fingolimod significantly
reduced annualised relapse rates (ARRs) and the risk of confirmed disability
progr... |
How many patients were enrolled in the FREEDOMS clinical trial? | FREEDOMS study, a randomised, double-blind study included 1272 patients with relapsing-remitting MS. | BACKGROUND: Fingolimod 0·5 mg once daily is approved for treatment of relapsing
multiple sclerosis (MS). In the phase 3, 2-year FREEDOMS (FTY720 Research
Evaluating Effects of Daily Oral therapy in MS) study, fingolimod significantly
reduced annualised relapse rates (ARRs) and the risk of confirmed disability
progr... |
What is blepharospasm? | The neurophysiological disruptions underlying blepharospasm, a disabling movement disorder characterized by increased blinking and involuntary muscle spasms of the eyelid, remain poorly understood. | Blepharospasm is a cranial nerve dysfunction in which involuntary and
uncontrollable forcible lid closure occurs. Surgical treatment is far from
ideal, but the condition can be improved by sectioning the branches of the
facial nerve plexus which supply the orbicularis oculi, the frontalis and
corrugator muscles, an... |
Explain the action of Balovaptan. | Balovaptan is a low-molecular-weight, orally active, hydrophilic non-peptide molecule that blocks Vasopressin-1a. It is approved for the treatment of autism spectrum disorders (ASD). | INTRODUCTION: Balovaptan, an investigational vasopressin 1a receptor antagonist
that has been evaluated for improvement of social communication and interaction,
is primarily metabolized by cytochrome P450 3A4 (CYP3A4).
METHODS: Two single-center, non-randomized, two-period, phase 1 studies assessed
the effect of the... |
what is the effect of Bisphenol A in the body? | Bisphenol A (BPA) is an endocrine-disruptor compound that exhibits estrogenic activit | Bisphenol A is a widely used industrial chemical with many potential sources of
human exposure. Bisphenol A is a weak estrogen and has been implicated as an
"endocrine disruptor". This term is used for a variety of chemicals encountered
in the environment which have estrogenic activity. It has been postulated that
... |
List the main proteins found in human saliva. | Amylases
Cystatins
Immunoglobulins
Mucins | Recent characterization of the whole saliva proteome led to contradictory
pictures concerning the complexity of its proteome. In this work, 110 proteins
were analysed by mass spectrometry allowing the identification of 10 accessions
previously not detected on protein two-dimensional maps, including myosin heavy
cha... |
Is HbA1c an ideal biomarker of well-controlled diabetes? | No. The HbA1c is a biomarker with a central role in the diagnosis and follow-up of patients with diabetes mellitus, although not a perfect one. It is associated with high morbidity and mortality, and is not an ideal biomarker for assessment of well-controlled diabetes. | HbA1c is a biomarker with a central role in the diagnosis and follow-up of
patients with diabetes, although not a perfect one. Common comorbidities
encountered in patients with diabetes mellitus, such as renal insufficiency,
high output states (iron deficiency anaemia, haemolytic anaemia,
haemoglobinopathies and pr... |
Which tool has been developed for microRNA-target enrichment and network-based analysis? | MIENTURNET (MicroRNA ENrichment TURned NETwork) is a web tool that receives in input a list of miRNAs or mRNAs and tackles the problem of prioritizing miRNA-target interactions by performing a statistical analysis followed by a fully featured network-based visualization and analysis. The statistics is used to assess th... | |
List example genes that SWIM tool has identified and which are down-regulated in glioblastoma | SWIM is a software able to unveil a small pool of genes - called switch genes - critically associated with drastic changes in cell phenotype. Applying SWIM to the expression profiling of glioblastoma stem-like cells and conventional glioma cell lines identifies switch genes related to stem-like phenotype. SWIM identifi... | BACKGROUND: It is well-known that glioblastoma contains self-renewing, stem-like
subpopulation with the ability to sustain tumor growth. These cells - called
cancer stem-like cells - share certain phenotypic characteristics with
untransformed stem cells and are resistant to many conventional cancer
therapies, which... |
Describe SWItchMiner (SWIM) | SWItchMiner (SWIM) is a wizard-like software implementation of a procedure, previously described, able to extract information contained in complex networks. Specifically, SWIM allows unearthing the existence of a new class of hubs, called "fight-club hubs", characterized by a marked negative correlation with their firs... | SWItchMiner (SWIM) is a wizard-like software implementation of a procedure,
previously described, able to extract information contained in complex networks.
Specifically, SWIM allows unearthing the existence of a new class of hubs,
called "fight-club hubs", characterized by a marked negative correlation with
their ... |
What promotes amyloid-peptide beta 42 (Aβ42) accumulation in neuroblastoma cells? | The apolipoprotein (apo) E4 isoform is the strongest risk factor for late-onset Alzheimer's disease (AD). ApoE4 is more susceptible to proteolysis than apoE2 and apoE3 isoforms and carboxyl-terminal truncated apoE4 forms have been found in AD patients' brain. A specific apoE4 fragment, apoE4-165, promotes amyloid-pepti... | The apolipoprotein (apo) E4 isoform is the strongest risk factor for late-onset
Alzheimer's disease (AD). ApoE4 is more susceptible to proteolysis than apoE2
and apoE3 isoforms and carboxyl-terminal truncated apoE4 forms have been found
in AD patients' brain. We have previously shown that a specific apoE4 fragment, ... |
Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation? | EpiMethylTag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA. | Author information:
(1)New York University Langone Health, New York, NY, USA.
(2)New York Genome Center, New York, NY, USA.
(3)Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
(4)Laura and Isaac Perlmutter Cancer Center, NYU School of Medicine, New York,
NY, USA.
(5)Skirball Institute of Biomolecular Me... |
Which protein is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks? | KLF4 is involved in the organization and regulation of pluripotency-associated three-dimensional enhancer networks. | Author information:
(1)Sanford I Weill Department of Medicine, Sandra and Edward Meyer Cancer
Center, Weill Cornell Medicine, New York, NY, USA.
(2)Department of Pathology, NYU School of Medicine, New York, NY, USA.
(3)Developmental Biology Program, Memorial Sloan Kettering Cancer Center, New
York, NY, USA.
(4)Weill-... |
Where is the agouti-related peptide expressed? | Function. Agouti-related protein is expressed primarily in the adrenal gland, subthalamic nucleus, and hypothalamus, with lower levels of expression in the testis, kidneys, and lungs. | Energy metabolism and bone homeostasis share several neuronal regulatory
pathways. Within the ventral hypothalamus (VHT), the orexigenic neurons
co-express Agouti-related peptide (AgRP) and neuropeptide Y (NPY) and the
anorexigenic neurons co-express, α-melanocyte stimulating hormone derived from
proopiomelanocorti... |
What is the function of ketohexokinase-A? | The central fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two isoforms: KHK-A and KHK-C. | Fructose is a major component of dietary sugar and its overconsumption
exacerbates key pathological features of metabolic syndrome. The central
fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two
isoforms: KHK-A and KHK-C, generated through mutually exclusive alternative
splicing of KHK pre-mR... |
Are the major royal jelly proteins similar to the yellow proteins? | Yes,
Major royal jelly proteins (named MRJP1-5) of honeybee (Apis mellifera), yellow proteins of Drosophila, together with putative proteins found in several bacteria, form a protein family termed the MRJP/yellow family. | The yellow locus in Drosophila is involved in both cuticle development and
behaviour. However, the function of the encoded protein is unknown. Here we have
characterised the sequence and expression pattern of a new Drosophila gene,
designated yellow-B, encoding a 453-amino-acid protein that is 57% identical to
Yell... |
Which R packages have been developed for studying TADs? | TADCompare is an R Package for differential and temporal analysis of Topologically Associated Domains. SpectralTAD is an R package for defining a hierarchy of topologically associated domains using spectral clustering. | BACKGROUND: The three-dimensional (3D) structure of the genome plays a crucial
role in gene expression regulation. Chromatin conformation capture technologies
(Hi-C) have revealed that the genome is organized in a hierarchy of
topologically associated domains (TADs), sub-TADs, and chromatin loops.
Identifying such ... |
Which bioconductor tool has been developed for accessing bacterial regulatory networks? | The Regutools R package to facilitates programmatic access to RegulonDB data in computational biology. regutools gives researchers the possibility of writing reproducible workflows with automated queries to RegulonDB. The regutools package serves as a bridge between RegulonDB data and the Bioconductor ecosystem by reus... | SUMMARY: RegulonDB has collected, harmonized and centralized data from hundreds
of experiments for nearly two decades and is considered a point of reference for
transcriptional regulation in Escherichia coli K12. Here, we present the
regutools R package to facilitate programmatic access to RegulonDB data in
computa... |
Is the Apis mellifera genome available? | Yes,
the Apis mellifera genome is available since 2006. | Phenotypic plasticity, the ability of an organism to alter its phenotype in
response to an environmental cue, facilitates rapid adaptation to changing
environments. Plastic changes in morphology and behavior are underpinned by
widespread gene expression changes. However, it is unknown if, or how, genomes
are struct... |
What genes is implicated in myotonic goats and other nondystrophic myotonias? | The gene encoding clcn1, mBNl1, gcic-1, scn4a, clc-1 and dmpk are implicated in myotonic goats and other nondystrophic myotonias. | Certain forms of myotonia, a condition characterized by delayed relaxation of
muscle secondary to sarcolemmal hyperexcitability, are caused by diminished
chloride conductance in the muscle cell membrane. We have investigated the
molecular basis for decreased muscle chloride conductance in the myotonic goat,
an hist... |
Has the olive tree pollen proteome been studied? | Yes,
Olive pollen is a major allergenic source worldwide due to its extensive cultivation. We have combined available genomics data with a comprehensive proteomics approach to get the annotated olive tree (Olea europaea L.) pollen proteome and define its complex allergenome. | |
Is cadherin a plasma membrane marker? | Yes,
cadherin is a plasma membrane protein marker. | AIMS: Hepatocyte growth factor-regulated tyrosine kinase substrate (Hgs), a key
component of the endosomal sorting complex required for transport (ESCRT), has
been implicated in many essential biological processes. However, the
physiological role of endogenous Hgs in the vascular system has not previously
been expl... |
What impacts stability of genomic imprinting in mouse pluripotent stem cells? | A susceptibility locus on chromosome 13 profoundly impacts the stability of genomic imprinting in mouse pluripotent stem cells. | Author information:
(1)Skirball Institute of Biomolecular Medicine, Department of Cell Biology, NYU
Langone Medical Center, New York, NY 10016, USA; Helen L. and Martin S. Kimmel
Center for Biology and Medicine, NYU Langone Medical Center, New York, NY 10016,
USA; Laura and Isaac Perlmutter Cancer Center, NYU Langon... |
What are the end products of the shikimate pathway? | The shikimate pathway responsible for the generation of aromatic amino acids | The most common route to produce aromatic chemicals - organic compounds
containing at least one benzene ring in their structure - is chemical synthesis.
These processes, usually starting from an extracted fossil oil molecule such as
benzene, toluene, or xylene, are highly environmentally unfriendly due to the
use o... |
What are the uber-operons? | Uber-operons are groups of functionally or transcriptionally related operons, whose gene sets are conserved across multiple reference genomes. Many of the uber-operons correspond to parts of known regulons or biological pathways or are involved in highly related biological processes based on their Gene Ontology (GO) as... | We present a study on computational identification of uber-operons in a
prokaryotic genome, each of which represents a group of operons that are
evolutionarily or functionally associated through operons in other (reference)
genomes. Uber-operons represent a rich set of footprints of operon evolution,
whose full uti... |
Which key gene is involved in syndromic obesity phenotype of patients with 1p21.3 microdeletions? | MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21. 3 microdeletions. | BACKGROUND: Deletions in the long arm of chromosome 1 have been described in
patients with a phenotype consisting primarily of obesity, intellectual
disability and autism-spectrum disorder. The minimal region of overlap comprises
two genes: DPYD and MIR137.
CASE PRESENTATION: We describe a 10-year-old boy with syndr... |
Is cabergoline used for treatment of the Nelson's syndrome ? | Yes, cabergoline has been shown to be effective for treatment of the Nelson's syndrome. | A woman affected by Cushing's disease underwent bilateral adrenalectomy followed
by radiotherapy of the hypothalamic-pituitary area when she was 18 years old.
Thereafter, she used hydrocortisone acetate replacement therapy (35.5 mg divided
into two daily doses). At the age of 26 years, the patient exhibited the
cli... |
Are mucins glycosylated proteins? | Yes,
Many members of the mucin family are evolutionarily conserved and are often aberrantly expressed and glycosylated in various benign and malignant pathologies leading to tumor invasion, metastasis, and immune evasion. | Mucin-type O-linked glycosylation, a posttranslational modification affecting
the stability and biophysical characteristics of proteins, requires C1GalT1 (T
synthase) and its obligate, X-linked chaperone Cosmc. Hypomorphic C1GalT1
mutations cause renal failure via not yet established mechanisms. We hypothesize
that... |
Is carpal tunnel syndrome a type of nerve entrapment? | Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy in humans. | The carpal tunnel syndrome is the most frequent entrapment syndrome of
peripheral nerves. Either a diminution of the volume of the whole carpal tunnel
or increasement of the intracarpal structures can enhance the pressure on the
median nerve and so develop a carpal tunnel syndrome. Fibrosis or thickening of
the syn... |
What is the main manifestation of Liebenberg syndrome? | Liebenberg syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly. | We report a case of Liebenberg syndrome in a 6-year-old girl, including the
clinical, radiological, angiographic, and operative findings. We note that the
forearm and hand malformations have similarities to leg and foot anatomy. Our
observations may help provide insight into the etiology of this unusual
condition. ... |
Which IDH inhibitors by Agios Pharmaceuticals have been approved by the FDA? | Enasidenib and ivosidenib, the IDH2 and IDH1 inhibitors developed by Agios Pharmaceuticals, have been approved by the Food and Drug Administration | Isocitrate dehydrogenase (IDH) is a key enzyme involved in the conversion of
isocitrate to α-ketoglutarate (α-KG) in the tricarboxylic acid (TCA) cycle. IDH
mutation produces a neomorphic enzyme, which can lead to the abnormal
accumulation of R-2-HG and promotes leukemogenesis. IDH mutation occurs in 20%
of acute m... |
What is RADICL-seq? | Mammalian genomes encode tens of thousands of noncoding RNAs. Most noncoding transcripts exhibit nuclear localization and several have been shown to play a role in the regulation of gene expression and chromatin remodeling. To investigate the function of such RNAs, methods to massively map the genomic interacting sites... | |
Which disease is treated with Anti–Siglec-8 Antibody? | Anti-Siglec-8 Antibody was shown to be effective for Eosinophilic Gastritis and Duodenitis. It is also undergoing clinical investigation for treatment of allergic, inflammatory, and proliferative diseases. | PURPOSE OF REVIEW: Hypereosinophilic syndrome (HES) is characterized by
persistent hypereosinophilia associated with end-organ damage. As our
understanding of the pathogenesis of various forms of HES broadens, so does our
ability to tailor steroid-sparing therapies for each subtype. The purpose of
this review is to... |
What is known about mammalian melatonin receptors? | Melatonin receptors MT1 and MT2 (genes officially named MTNR1A and MTNR1B, respectively) play crucial roles in melatonin-mediated regulation of circadian rhythms, the immune system, and control of reproduction in seasonally breeding animals.
The melatonin receptor family is a small group of receptors within the G prote... | The pineal hormone, melatonin, is an important regulator of seasonal
reproduction and circadian rhythms. Its effects are mediated via high-affinity
melatonin receptors, located on cells of the pituitary pars tuberalis (PT) and
suprachiasmatic nucleus (SCN), respectively. Two subtypes of mammalian melatonin
receptor... |
What is holoprosencephaly? | Holoprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis . The most common developmental defect is characterized by inadequate or absent midline division of the forebrain into cerebral hemispheres wit... | Holoprosencephaly is a brain anomaly of varying severity with associated
extracranial, symptomatic abnormalities in only a minority of cases. The class
of brain defects known as holoprosencephaly represents a continuum usually
divided into three types: alobar, semilobar, and lobar. Each has both
distinctive radiolo... |
What is the effect of notch in the division of neural progenitor cells in Drosophila? | The Notch pathway mediates the differentiation of neural progenitor cells in Drosophila. It's an important part of the development of neural stem cells, which are the cells that make up the brain. Notch/HES signaling and MIR-9 signaling are very important for the homeostasis of neural cells. It is thought that notch ac... | Asymmetric division is a fundamental mechanism for generating cellular
diversity. Studies on Drosophila neural progenitors have provided valuable
insight into how evolutionarily conserved protein cassettes may be
differentially deployed in different developmental contexts to mediate
asymmetric divisions. Recent fin... |
In what clinical trials has SAR425899 been tested? | Subcutaneous administrations of SAR425899 were tested in two randomized, placebo-controlled, double-blind clinical trials. In the first trial, healthy overweight volunteers (body mass index [BMI] 25-30 kg/m2 ; n = 32) received single-ascending doses (0.01-0.1 mg) of SAR425899 or placebo. In the second, a multiple-ascen... | AIMS: To evaluate the safety, pharmacokinetics and pharmacodynamics of
SAR425899, a novel polypeptide, active as an agonist at both the glucagon-like
peptide-1 receptor (GLP-1R) and the glucagon receptor (GCR), in healthy
volunteers and in overweight/obese patients with type 2 diabetes (T2D).
METHODS: Subcutaneous a... |
Is there a link between rare variants in PPARG and type 1 diabetes? | No. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. | |
What is the mechanisms of action of pexidartinib? | Pexidartinib is small-molecule tyrosine kinase inhibitor that has strong selectivity against colony-stimulating factor 1 receptor. | Background Pexidartinib, a novel, orally administered small-molecule tyrosine
kinase inhibitor, has strong selectivity against colony-stimulating factor 1
receptor. This phase I, nonrandomized, open-label multiple-dose study evaluated
pexidartinib safety and efficacy in Asian patients with symptomatic, advanced
sol... |
List pore forming toxins. | cytolysin A
α-hemolysin
Streptolysin O
pneumolysin
listeriolysin
leukocidin
Glabralysin | Host-pathogen interactions are central to understanding microbial pathogenesis.
The staphylococcal pore-forming cytotoxins hijack important immune molecules but
little is known about the underlying molecular mechanisms of cytotoxin-receptor
interaction and host specificity. Here we report the structures of a
staphy... |
What syndrome is associated with mutations in lysine methyltransferase 2D KMT2D? | Mutations in lysine methyltransferase 2D (KMT2D) gene, which encodes the catalytic core of a multisubunit chromatin remodeling enzyme, are responsible for the neurodegenerative disorder Kabuki syndrome. | CHARGE syndrome is a complex developmental disorder caused by mutations in the
chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another
developmental disorder, is characterized by typical facial features in
combination with developmental delay, short stature, prominent digit pads and
visceral abnormali... |
Does steroid 5A-Reductase deficiency lead to hermaphroditism? | Yes, steroid 5A-reductase deficiency can lead to hermaphroditism. | During a 10-year period 65 children and adolescents with ambiguous genitalia
from the Dominican Republic, not known through kindred studies of 5
alpha-reductase deficiency, were evaluated. Plasma androgen determinations were
performed before and/or after Leydig cell stimulation of the testes with human
chorionic go... |
Has ubrogepant entered clinical phase III trials? | Yes, ubrogepant has entered phase III trials. | Ubrogepant (MK-1602) is a novel, oral, calcitonin gene-related peptide receptor
antagonist in clinical development with positive phase III outcomes for acute
treatment of migraine. This paper describes the population exposure-response
(E-R) modeling and simulations, which were used to inform the phase III
dose-sele... |
How many nucleotides long is the HOTAIR CNE? | The HOTAIR CNE is a 32-nucleotide long conserved noncoding element | Author information:
(1)Biotech Research and Innovation Centre, Department of Health and Medical
Sciences, University of Copenhagen, Ole Maaløes Vej 5, 2200 Copenhagen N,
Denmark. Electronic address: chirag.nepal@bric.ku.dk.
(2)Biotech Research and Innovation Centre, Department of Health and Medical
Sciences, Univers... |
What symptoms are included in the narcolepsy pentad? | Narcolepsy is a chronic sleep disorder characterized by a pentad of excessive daytime sleepiness (EDS), cataplexy, sleep paralysis, hypnagogic/hypnopompic hallucinations, and disturbed nocturnal sleep. | Narcolepsy is a chronic sleep disorder characterized by a pentad of excessive
daytime sleepiness (EDS), cataplexy, sleep paralysis, hypnagogic/hypnopompic
hallucinations, and disturbed nocturnal sleep. While non-pharmacological
treatments are sometimes helpful, more than 90% of narcoleptic patients require
a pharma... |
What is the function of osteolectin? | C-type lectin domain family 11 member A (Clec11a), also known as stem cell growth factor (SCGF), C-type lectin superfamily member 3 (CLECSF3), or osteolectin was initially identified as a growth factor for hematopoietic progenitor cells. | C-type lectin domain family 11 member A (Clec11a), also known as stem cell
growth factor (SCGF), C-type lectin superfamily member 3 (CLECSF3), or
osteolectin was initially identified as a growth factor for hematopoietic
progenitor cells. The human Clec11a gene encodes a polypeptide of 323 amino
acids with character... |
What is ECMO? | Extracorporeal membrane oxygenation (ECMO) is an increasingly prevalent treatment for acute respiratory failure (ARF) | BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is a form of long-term
cardiopulmonary bypass used to treat infants, children, and adults with
respiratory and/or cardiac failure despite maximal medical therapy. Mechanical
emergencies on extracorporeal membrane oxygenation (ECMO) have an associated
mortality ... |
Which diseases are associated with the Yaa gene? | The Y-linked autoimmune accelerating gene mutation (yaa), first discovered in the BXSB mouse strain, is known to accelerate spontaneous autoantibody production and subsequent development of lupus disease. It has also been shown to be associated with various autoimmune conditions such as lupus-like syndrome, collagen in... | The BXSB/MpJ (BXSB) murine strain (H-2b) spontaneously develops an autoimmune
syndrome with features of systemic lupus erythematosus (SLE) that affects males
much earlier than females. A mutant gene located on the BXSB Y chromosome,
designated Yaa (Y chromosome-linked autoimmune acceleration), is responsible for
th... |
Which receptors does bimagrumab block? | Bimagrumab blocks the activin type II receptors. | RATIONALE: Bimagrumab is a fully human monoclonal antibody that blocks the
activin type II receptors, preventing the activity of myostatin and other
negative skeletal muscle regulators.
OBJECTIVES: To assess the effects of bimagrumab on skeletal muscle mass and
function in patients with chronic obstructive pulmonary... |
Are PDXK mutations linked to polyneuropathy? | Yes, PDXK mutations are linked to polyneuropathy. | Author information:
(1)Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC),
Institute of Genetics, and Center for Rare Diseases Cologne, University of
Cologne, Cologne, Germany.
(2)Molecular and Clinical Sciences Institute, St. George's University of London,
Cranmer Terrace, London SW17 0RE, UK... |
Is avelumab effective for urothelial carcinoma? | Yes. Avelumab is an anti-programmed death-ligand 1 monoclonal antibody that is approved for the treatment of urothelial carcinoma. | Purpose We assessed the safety and antitumor activity of avelumab, a fully human
anti-programmed death-ligand 1 (PD-L1) IgG1 antibody, in patients with
refractory metastatic urothelial carcinoma. Methods In this phase Ib,
multicenter, expansion cohort, patients with urothelial carcinoma progressing
after platinum-b... |
What tissues have been studied by circadian proteomics? | Retina
Liver | The circadian clock in the retina regulates a variety of physiological phenomena
such as disc shedding and melatonin release. Although these events are critical
for retinal functions, it is almost unknown how the circadian clock controls the
physiological rhythmicity. To gain insight into the processes, we performed... |
Is MIS-C or Multisystem Inflammatory syndrome in children a complication of Covid-19? | Is MIS-C or Multisystem Inflammatory Syndrome in children a complication of Covid-19? Yes, it is. | Author information:
(1)Division of Critical Care Medicine, Children's Hospital of Philadelphia,
Philadelphia, Pennsylvania, USA.
(2)Division of Infectious Diseases, Children's Hospital of Philadelphia,
Philadelphia, Pennsylvania, USA.
(3)Perelman School of Medicine, University of Pennsylvania, Philadelphia,
Pennsylv... |
Which RNA polymerase transcribes enhancer RNAs? | Analogously to mRNAs, the non-protein-encoding enhancer RNAs are synthesized by RNA Pol II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail. | We have cloned and sequenced a 977bp DNA fragment, pXTU6-2, that represents the
transcription unit for a Xenopus tropicalis U6 RNA gene. This basic repeating
unit is reiterated ca.500-fold per haploid genome. Oocyte injections of pXTU6-2
led to the transcription of a mature-sized U6 RNA that, however, lacked interna... |
Name the three phase 3, randomized, double-blind, placebo-controlled that assessed galcanezumab? | Galcanezumab has been assessed in the phase 3, randomized, double-blind, placebo-controlled EVOLVE-1, EVOLVE-2 and REGAIN studies. | Migraine is a debilitating neurologic disease. People who experience migraine
can have substantial disability, impaired functioning and a decreased quality of
life (QoL). Expert recommendations suggest that people with frequent migraine
attacks or severe impairment related to attacks may benefit from preventive
tre... |
Is co-loss of BRCA2-RB1 associated with better prognosis for prostate cancer patients? | No. Co-loss of BRCA2-RB1 in human prostate cancer cells induces an epithelial-to-mesenchymal transition, which is associated with invasiveness and a more aggressive disease phenotype. | PURPOSE: Previous sequencing studies revealed that alterations of genes
associated with DNA damage response (DDR) are enriched in men with metastatic
castration-resistant prostate cancer (mCRPC). BRCA2, a DDR and cancer
susceptibility gene, is frequently deleted (homozygous and heterozygous) in men
with aggressive ... |
Which drugs were investigated in the ALPHEUS trial? | ALPHEUS study examined if ticagrelor was superior to clopidogrel in reducing periprocedural myocardial necrosis in stable coronary patients undergoing high-risk elective percutaneous coronary intervention (PCI). | BACKGROUND: Percutaneous coronary intervention (PCI)-related myonecrosis is
frequent and can affect the long-term prognosis of patients. To our knowledge,
ticagrelor has not been evaluated in elective PCI and could reduce
periprocedural ischaemic complications compared with clopidogrel, the currently
recommended tr... |
Which cell secretes the enzyme tryptase? | Degranulation of mast cells (MCs) releases several mediators such as vascular endothelial growth factor (VEGF), chymase, tryptase, histamine, and cytokines. | Mast cells (MCs) are known to participate in a variety of patho-physiological
processes depending largely on the intragranular mediators and the production of
cytokines and chemokines during degranulation. Recently, extracellular vesicles
(EVs) have been implicated important functions for MCs, but the components of ... |
What disease does BCG immunotherapy used to treat? | Bacillus Calmette-Guérin (BCG) immunotherapy is used for treatment of bladder cancer. | The results of various in vitro analyses indicate there is an active immune
response against antigens associated with human maligcies. This immune
response apparently can be augmented by nonspecific immunologic stimulates such
as BCG. These agents are effective for destroying tumor when injected locally
into intrac... |
Which epigenetic marks are deposited by PRC1? | PRC2 induces histone H3 lysine 27 (H3K27) trimethylation (H3K27me3), which is subsequently read by PRC1 that further catalyzes H2A monoubiquitination (H2Aub1), creating a transcriptional silent chromatin conformation. | BACKGROUND: The INK4/ARF locus encodes three tumor suppressor genes (p15(Ink4b),
Arf and p16(Ink4a)) and is frequently inactivated in a large number of human
cancers. Mechanisms regulating INK4/ARF expression are not fully characterized.
PRINCIPAL FINDINGS: Here we show that in young proliferating embryonic
fibrobla... |
Does erenumab target the calcitonin gene-related peptide? | No, erenumab targets the calcitonin gene-related peptide receptor. | |
Which key gene is involved in interstitial 6q25 microdeletion syndrome? | Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, microcephaly, and non-specific multiple... | Interstitial deletions of the long arm of chromosome 6 are rare. Clinically,
these deletions are considered to be part of a unique microdeletion syndrome
associated with intellectual disability and speech impairment, typical
dysmorphic features, structural anomalies of the brain, microcephaly, and
non-specific mult... |
Brensocatib was tested for treatment of which disease? | Brensocatib was tested for bronchiectasis. Brensocatib in patients with bronchiectasis was associated with improvements in bronchiectasis clinical outcomes. | |
What is the function of the protein Cuf1? | Cuf1 is a copper-sensing transcription factor. | Copper is an essential nutrient that serves as a co-factor for enzymes involved
in critical cellular processes including energy generation, peptide hormone
maturation, oxidative stress protection, and iron homeostasis. Although genes
have been identified from yeast and mammals encoding a homologous subunit of a
pla... |
How many groups of viruses exist in the Baltimore Classification? | There are seven "Baltimore classes" (BCs) that define the major features of virus reproduction. | The innate immune system of humans and other mammals responds to
pathogen-associated molecular patterns (PAMPs) that are conserved across broad
classes of infectious agents such as bacteria and viruses. We hypothesized that
a blood-based transcriptional signature could be discovered indicating a host
systemic respo... |
What is the effect of Dkk1 in Wnt signaling? | Transcriptional silencing of the Wnt-antagonist DKK1 is a secreted protein that antagonizes Wnt signaling and plays essential roles in vertebrate embryogenesis. | mRNA injection into the ventral blastomeres of Xenopus embryos of mRNA encoding
Wnt pathway genes induces a secondary axis with complete head structures. To
identify target genes of the pre-MBT dorsalization pathway that might be
responsible for head formation in zebrafish, we have cloned zebrafish dickkopf1
(dkk1)... |
What is bimagrumab | Bimagrumab is a fully human monoclonal antibody that blocks the activin type II receptors, preventing the activity of myostatin and other negative skeletal muscle regulators. | Bimagrumab (BYM338) is a novel fully human monoclonal antibody that exerts
strong promyogenic effects on skeletal muscle by blocking activin type II
receptors (ActRII). We investigated whether such blockade of ActRII by
bimagrumab manifests any detrimental effect on outcomes of bone healing in a rat
fibula osteotom... |
List orally bioavailable MPS1 kinase inhibitors | 1 h-pyrrolo [3,2-c] pyridine, cct271850, nms-p715, 4-aminopyrazalo,bos172722 and cct251455. | MPS1 kinase is a key regulator of the spindle assembly checkpoint (SAC), a
mitotic mechanism specifically required for proper chromosomal alignment and
segregation. It has been found aberrantly overexpressed in a wide range of human
tumors and is necessary for tumoral cell proliferation. Here we report the
identifi... |
Can radiosurgery be used for the DNET tumors? | Yes, radiosurgery is used for the DNET (Dysembryoplastic neuroepithelial) tumors. However, the level of evidence is limited. | Two rare cases of intractable epilepsy caused by Dysembryoplastic
Neuroepithelial Tumours (DNET) are reported and their different management
discussed. The first case required vagal nerve stimulation and radiosurgery
while the later was operated with the help of neuronavigation. Both had good
outcome according to E... |
What are commensal bacteria? | The gut microbiota is composed of a large number of microbes, usually regarded as commensal bacteria. Maintenance of the commensal bacteria that comprise the gut microbiome is essential to both gut and systemic health. | Maintece of the commensal bacteria that comprise the gut microbiome is
essential to both gut and systemic health. Traumatic injury, such as burn,
elicits a number of changes in the gut, including a shift in the composition of
the microbiome (dysbiosis), increased gut leakiness, and bacterial translocation
into the ... |
What disease is associate with defects in both the KDM6A (lysine specific demethylase 6A) and KMT2D (lysine methyltransferase 2D) | Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A] | KBG syndrome is a rare, autosomal domit disorder caused by mutations or
deletions leading to haploinsufficiency for the Ankrin Repeating
Domain-Containing protein 11 (ANKRD11) at chromosome 16q24.3. Kabuki syndrome is
caused by mutations or deletions of lysine (K)-specific methyltransferase 2D
(KMT2D) and lysine-sp... |
Which transcription factor regulates emergency granulopoiesis? | The transcription factor CCAAT/enhancer binding protein β (C/EBPβ) plays critical roles in the differentiation and proliferation of hematopoietic stem cells. | Severe congenital neutropenia (CN) is a heterogeneous hematopoietic syndrome
with a typical "maturation arrest" of granulocytic precursors at the
promyelocytic stage, inherited in an autosomal domit or recessive manner.
Intriguingly, CN patients have the same bone marrow and blood phenotypes
irrespective of inherit... |
When did eptinezumab get its first FDA approval? | In February 2020, eptinezumab was approved in the USA for the preventive treatment of migraine in adults. | Eptinezumab-jjmr (referred to as eptinezumab hereafter; Vyepti™) is a humanised
monoclonal antibody that binds to calcitonin gene-related peptide (CGRP) and
blocks its binding to the receptor. CGRP is believed to play a major role in the
pathophysiology of migraine. Eptinezumab, delivered by intravenous (IV)
admini... |
Which database exists that contains regulatory sites for splicing in human basal ganglia? | Braineacv2 has been identified as a database that contains regulatory sites for splicing in human basal ganglia. | |
Should minocycline be used for mild Alzheimer disease? | No. Minocycline did not delay the progress of cognitive or functional impairment in people with mild Alzheimer disease during a 2-year period. | IMPORTANCE: There are no disease-modifying treatments for Alzheimer disease
(AD), the most common cause of dementia. Minocycline is anti-inflammatory,
protects against the toxic effects of β-amyloid in vitro and in animal models of
AD, and is a credible repurposed treatment candidate.
OBJECTIVE: To determine whether... |
What is pyroptosis? | Pyroptosis is an inflammatory form of cell death triggered by certain inflammasomes, leading to the cleavage of gasdermin D (GSDMD) and activation of inactive cytokines like IL-18 and IL-1β. Pyroptosis has been reported to be closely associated to some diseases like atherosclerosis and diabetic nephropathy. Recently, s... | Pyroptosis is a pro-inflammatory form of programmed cell death, whose genesis
directly depended on caspase-1 activation. Pulmonary hypertension (PH) is a
disease characterized, in part, by vascular fibrosis. Up to now, there is no
report on the relationship between pyroptosis and vascular fibrosis in PH. Here,
we c... |
What is a HapMap | HapMap is a international effort for creating an annotated haplotype map of the world’s most commonhaplotype sequences. | Understanding of linkage disequilibrium (LD) in human populations could
facilitate the discovery of genes that influence complex human diseases. The
"HapMap" project is now underway to characterize patterns of LD in the human
genome. A pilot study showed "haplotype blocks" in 51 regions scattered
throughout the gen... |
Which cancer types are associated with mutations in the TWIST1 gene? | Loss-of-function mutations of TWIST1, a catalytic component of polycomb repressive complex 1, are observed in ~\n10% of all human cancers, including gastric, non-small cell lung, breast ductal carcinoma, nonsmall cell lung cancer, prostate cancer, ovarian cancer, breast tumor, papillary thyroid cancer, and gastric canc... | The Saethre-Chotzen syndrome is an autosomal, domitly inherited
craniosynostosis caused by mutations in the basic helix-loop-helix transcription
factor gene TWIST1. This syndrome has hitherto not been associated with an
increased risk of cancer. However, recent studies, using a murine breast tumor
model, have shown... |
What did the RESILIENT study investigate? | A global, randomized, double-blind placebo-controlled study was conducted to confirm that BYM338 (bimagrumab), an anti-activin type II receptor antibody, improves motor function in patients with sporadic inclusion body myositis after 52 weeks' treatment consisting of intravenous administration every 4 weeks at doses of... | A global, randomized, double-blind placebo-controlled study was conducted to
confirm that BYM338 (bimagrumab), an anti-activin type II receptor antibody,
improves motor function in patients with sporadic inclusion body myositis after
52 weeks' treatment consisting of intravenous administration every 4 weeks at
dose... |
List features of the Thrombotic Thrombocytopenic Purpura pentad. | Thrombotic thrombocytopenic purpura (TTP) is typically characterized by the symptomatic pentad of fever, thrombocytopenia, microangiopathic hemolytic anemia, neurologic abnormalities, and renal failure. | Thrombotic thrombocytopenic purpura (TTP) is characterized by the pentad of
fever, thrombocytopenia, microangiopathic hemolytic anemia, fluctuating
neurologic symptoms, and renal dysfunction. Thrombotic thrombocytopenic purpura
has recently been reported in association with rheumatic diseases (RDs). The
authors pre... |
What are organoids? | Organoids are 3D physiological in vitro structures that recapitulate morphological and functional features of in vivo tissues and offer significant advantages over traditional cell culture methods. | To generate a reliable preclinical model system exhibiting the molecular
features of salivary adenoid cystic carcinoma (ACC) whose biology is still
unclear due to the paucity of stable cell cultures. To develop new in vitro and
in vivo models of ACC, the techniques of organoid culture and patient-derived
tumor xeno... |
List 3 therapeutic uses for botulism toxin. | Botulinum toxin injections are effective in relieving focal spasticity resulting from upper motor neuron injuries, migraine headaches, over active bladder and to relieve pain in the Sacroiliac Joint. | CONTEXT: Botulism is a potentially lethal paralytic disease caused primarily by
toxins of the anaerobic, spore-forming bacterium Clostridium botulinum. Although
botulinum toxin A is available by prescription for cosmetic and therapeutic use,
no cases of botulism with detectable serum toxin have previously been attri... |
What is the role of Tcf3 in the maintenance of pluripotency? | Tcf3 is an integral component of the core regulatory circuitry of ES cells, which includes an autoregulatory loop involving the pluripotency regulators. Tcf3 co-occupies promoters throughout the genome in association with the pluripotency regulators Oct4 and Nanog. Tcf3 down-regulation modulates the lineage differentia... | Self-renewal of rodent embryonic stem cells is enhanced by partial inhibition of
glycogen synthase kinase-3 (Gsk3; refs 1, 2). This effect has variously been
attributed to stimulation of Wnt signalling by β-catenin, stabilization of Myc
protein and global de-inhibition of anabolic processes. Here we demonstrate that... |
What pathological condition is MK-1602 used for? | MK-1602 has been assessed in clinical trials for the acute treatment of migraine. | AIM: The aim of this trial was to evaluate the efficacy and tolerability of
ubrogepant (MK-1602), a calcitonin gene-related peptide receptor antagonist
(CGRP-RA), for the acute treatment of migraine.
METHODS: This double-blind, placebo-controlled study randomized 834 participants
to treat one migraine attack with ub... |
Is there an association of alterations in ADCY7 and ulcerative colitis? | Yes. Genome-wide analyses indicate a association between mutations in ACVR1 and ulcerative colitis due to loss-of-function mutations in ADCY7. | Author information:
(1)Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
(2)Division of Genetics and Rheumatology, Brigham and Women's Hospital, Harvard
Medical School, Boston, MA, USA.
(3)Program in Medical and Population Genetics, Broad Institute of Harvard and
MIT, Cambridge, MA, USA.
(4)... |
What is the mechanism of action of satralizumab? | Satralizumab is a humanized anti-interleukin-6 (IL-6) receptor monoclonal recycling antibody that has been approved for the treatment of neuromyelitis optica spectrum disorder (NMOSD). | Author information:
(1)Biopathologie de la Myéline, Neuroprotection et Stratégies Thérapeutiques,
INSERM U1119, Fédération de Médecine Translationnelle de Strasbourg (FMTS),
Université de Strasbourg, Bâtiment 3 de la Faculté de Médecine, 11 rue Humann,
67000, Strasbourg, France. nicolas.collongues@chru-strasbourg.fr... |
Are mucin overexpression associated with disease? | Yes,
mucins are overexpressed in various malignancies and inflammations. | MUC1 is a membrane glycoprotein, which in adenocarninomas is overexpressed and
exhibits truncated O-glycosylation. Overexpression and altered glycosylation
make MUC1 into a candidate for immunotherapy. Monoclonal antibodies directed
against MUC1 frequently bind an immunodomit epitope that contains a single
site for... |
What are the 4 types of holoprosencephaly? | Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees . Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar, and Middle interhemispheric fusion v... | Five cases are presented to demonstrate the computed tomographic (CT) spectrum
of holoprosencephaly. The classifications of alobar, semilobar, and lobar types
A and B holoprosencephaly are each represented, with an additional case of
semilobar holoprosencephaly complicated by a subdural effusion. Holoprosencephaly... |
Which yeast genes encode for condensin? | Smc2-Smc4 forms the core of the Saccharomyces cerevisiae condensin, which promotes metaphase chromosome compaction . Both SMC2 and SMC4 are essential for chromosome transmission in anaphase . Smc 2-8 suppresses catenanes accumulation, mitotic arrest and growth defects induced by histone depletion at semi-permissive tem... | The condensin complex in frog extracts, containing two SMC (structural
maintece of chromosomes) and three non-SMC subunits, promotes mitotic
chromosome condensation, and its supercoiling activity increases during mitosis
by Cdc2 phosphorylation. Here, we report that fission yeast has the same
five-member condensin ... |
What is another name for the drug AMG334? | AMG334 is also called erenumab. | PURPOSE OF REVIEW: The results of phase 2 randomized controlled trials for the
prevention of episodic and chronic migraine demonstrating the efficacy and
safety of four mAbs targeting the calcitonin gene-related peptide (CGRP) pathway
[ALD403 (eptinezumab), AMG334 (erenumab), LY2951742 (galcanezumab) and TEV48125
(... |
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