question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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Which test is used to diagnose colour synesthesia? | A standardized test battery for the study of synesthesia. We used synesthetic versions of the Stroop test with colored letters and numbers presented either in the right or the left visual field of thirty-four synesthetes. Assessment of the hemispheric lateralization of grapheme-color synesthesia with Stroop-type tests.... | Synesthesia is an unusual condition in which stimulation of one modality evokes
sensation or experience in another modality. Although discussed in the
literature well over a century ago, synesthesia slipped out of the scientific
spotlight for decades because of the difficulty in verifying and quantifying
private pe... |
How does increased GDF15 affect body weight? | In humans, elevated GDF15 correlates with weight loss, and the administration of GDF15 to mice with obesity reduces body weight, at least in part, by decreasing food intake. | Growth differentiation factor 15 (GDF15), a distant member of the transforming
growth factor (TGF)-β family, is a secreted protein that circulates as a 25-kDa
dimer. In humans, elevated GDF15 correlates with weight loss, and the
administration of GDF15 to mice with obesity reduces body weight, at least in
part, by ... |
Which are the best methods for the prediction of circular RNA (circRNA)? | A circRNA prediction software for plants . Circular RNA profile in gliomas revealed by identification tool UROBORUS. Numerous algorithms that are used to detect genome-wide circRNA expression from RNA sequencing data have been developed in the past few years, but there is little overlap in their predictions and no cle... | MOTIVATION: Circular RNAs (circRNAs) are a poorly characterized class of
molecules that have been identified decades ago. Emerging high-throughput
sequencing methods as well as first reports on confirmed functions have sparked
new interest in this RNA species. However, the computational detection and
quantification... |
What is inhibited by a drug rilotumumab? | Rilotumumab is a fully human monoclonal antibody that selectively targets the hepatocyte growth factor (HGF). It is used for treatment of cancer. | PURPOSE: To evaluate the efficacy, safety, biomarkers, and pharmacokinetics of
rilotumumab, a fully human, monoclonal antibody against hepatocyte growth factor
(HGF)/scatter factor, combined with mitoxantrone and prednisone (MP) in patients
with castration-resistant prostate cancer (CRPC).
EXPERIMENTAL DESIGN: This ... |
Which RNA polymerase II subunit carries RNA cleavage activity? | The eukaryotic transcription factor TFIIS enhances elongation and nascent transcript cleavage activities of RNA polymerase II in a stalled elongation complex. | Ternary complexes of vaccinia virus RNA polymerase containing 3'-OMeGMP-arrested
transcripts were purified by native gel electrophoresis. These complexes resumed
elongation in situ when gel slices were incubated with magnesium and NTPs.
Elongation occurred in the absence of pyrophosphate, suggesting that the
blocki... |
Which is the transcriptome of RNA polymerase III? | RNA polymerase III (Pol III) transcribes a limited set of short genes in eukaryotes producing abundant small RNAs, mostly tRNA. The originally defined yeast Pol III transcriptome appears to be expanding owing to the application of new methods. Newly identified Pol III transcripts include small nucleolar RNAs, microRNAs... | RNA polymerase III (Pol III) transcribes small untranslated RNAs, such as tRNAs.
To define the Pol III transcriptome in Saccharomyces cerevisiae, we performed
genome-wide chromatin immunoprecipitation using subunits of Pol III, TFIIIB and
TFIIIC. Virtually all of the predicted targets of Pol III, as well as several ... |
How many PML isoforms exist in the human genome? | PML, the organizer of nuclear bodies (NBs), is expressed in several isoforms designated PMLI to VII which differ in their C-terminal region due to alternative splicing of a single gene. | The small nuclear structures known as ND10 or PML nuclear bodies have been
implicated in a variety of cellular processes including response to stress and
interferons, oncogenesis, and viral infection, but little is known about their
biochemical properties. Recently, a ubiquitin-specific protease enzyme (named
HAUSP... |
Do cephalopods use RNA editing less frequently than other species? | Extensive messenger RNA editing generates transcript and protein diversity in genes involved in neural excitability, as previously described, as well as in genes participating in a broad range of other cellular functions. | Coleoid cephalopods like squids have a camera-type eye similar to vertebrates.
On the other hand, Nautilus (Nautiloids) has a pinhole eye that lacks lens and
cornea. Since pygmy squid and Nautilus are closely related species they are
excellent model organisms to study eye evolution. Having being able to collect
Nau... |
Is there an RNAi drug being developed to treat amyloidosis? | Yes, patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (hATTR) amyloidosis. | BACKGROUND: Patisiran is an investigational RNA interference (RNAi) therapeutic
in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a
progressive disease associated with significant disability, morbidity, and
mortality.
METHODS: Here we describe the rationale and design of the Phase 3 APOLLO stu... |
Which receptor does GDF15 bind? | GDF15 binds specifically to GDNF family receptor α-like (GFRAL) | Growth differentiation factor 15 (GDF15; also known as MIC-1) is a divergent
member of the TGF-β superfamily and is associated with body-weight regulation in
humans and rodents. However, the cognate receptor of GDF15 is unknown. Here we
show that GDF15 binds specifically to GDNF family receptor α-like (GFRAL) with
... |
Is there an association between carcinoid syndrome and mitral valve disease? | Yes, mitral valve damage was reported in patients with carcinoid syndrome. | An observation of carcinoid syndrome in a woman of 47 suffering from maligt
carcinoid of the ileum with metastases into the liver and right ovary is
described. The clinical picture included diarrhea, heat waves, bronchospasms,
hypertension, hyperserotoninemia, affection of the mitral valve and left atrium.
"Carcino... |
How many of the human PML isoforms are cytosolic? | Using a system in which only a single EYFP-linked PML isoform is expressed, we demonstrate that PMLI, PMLII and PMLVI accumulate in the cytoplasm following arsenic treatment, whereas PMLIII, PMLIV and PMLV do not the PML isoforms that are most sensitive to virus infection correspond closely to those which have recently... | The small nuclear structures known as ND10 or PML nuclear bodies have been
implicated in a variety of cellular processes including response to stress and
interferons, oncogenesis, and viral infection, but little is known about their
biochemical properties. Recently, a ubiquitin-specific protease enzyme (named
HAUSP... |
Which tendons are affected in the Dequervain's tenosynovitis? | DeQuervain's tenosynovitis is a common cause of radial-sided wrist pain. Symptoms result from a narrow first dorsal compartment and associated tendinosis of the enclosed extensor pollicis brevis and/or abductor pollicis longus. | DeQuervain tenosynovitis, which involves the abductor pollicis longus and
extensor pollicis brevis tendons, is much more common in women than men and is
due to repetitive movements of the hand such as grasping and twisting.
Housewives and persons involved in manual occupations using the hands and wrists
account for... |
Are there RNAi approaches considered for the treatment of kidney injury? | Yes, RNAi approaches are being considered for the treatment of kidney injury. | RNA interference has tremendous yet unrealized potential to treat a wide range
of illnesses. Innovative solutions are needed to protect and selectively deliver
small interfering RNA (siRNA) cargo to and within a target cell to fully exploit
siRNA as a therapeutic tool in vivo. Herein, we describe ammonium-functional... |
What does davunetide do to microtubules? | Davunetide or NAP is a microtubule-stabilizer. | |
Is propranolol used for treatment of infantile hemangioma? | Yes, propranolol is becoming the treatment of choice for complicated infantile hemangioma. | The objective of this study is to describe the initial use of propranolol as the
sole treatment for focal infantile airway hemangiomas, and to report on
available literature describing the use of propranolol for airway lesions. This
retrospective case series was carried out at a tertiary pediatric medical
center. W... |
Can the CEP290 gene mutations be targeted by AAV-mediated gene therapy? | The large size of the CEP290 gene prevents its use in adeno-associated virus (AAV)-mediated gene augmentation therapy. | As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a
severe retinal dystrophy caused by mutations in the CEP290 gene. The most
frequent mutation found in patients with LCA10 is a deep intronic mutation in
CEP290 that generates a cryptic splice donor site. The large size of the CEP290
gene prev... |
Which proteins are controlling sterol metabolism in S. cerevisiae? | The yeast genome encodes seven oxysterol binding protein homologs, Osh1p-Osh7p, which have been implicated in regulating intracellular lipid and vesicular transport The yeast genome encodes seven oxysterol binding protein homologs, Osh1p-Osh7p, which have been implicated in regulating intracellular lipid and vesicular ... | There is an intimate association between sterol biosynthesis in yeast and
aerobicity. Besides the requirement for molecular oxygen for the epoxidation of
squalene, cytochrome hemoproteins are involved in demethylation and desaturation
steps. Regulatory effects of hemes on sterol formation have been demonstrated
usi... |
Which enzymes are responsible for base J creation in Trypanosoma brucei? | The base is synthesized in a two-step pathway. Initially, a thymidine residue in DNA is hydroxylated by a thymidine hydroxylase (TH). This intermediate (HOMedU) is then glucosylated to form base J. Two proteins involved in J synthesis, JBP1 (J binding protein 1) and JBP2, contain a putative TH domain related to the fam... | Synthesis of the modified thymine base, beta-d-glucosyl-hydroxymethyluracil or
J, within telomeric DNA of Trypanosoma brucei correlates with the bloodstream
form specific epigenetic silencing of telomeric variant surface glycoprotein
genes involved in antigenic variation. In order to analyze the function of base
J ... |
Which method for subsampling of NGS reads requires only gene counts? | SamExploreR : exploring reproducibility and robustness of RNA-seq results based on SAM files.We introduce the subseq r package, which uses a novel efficient approach to perform this subsampling and to calculate informative metrics at each depth required to inform a broad range of functional and evolutionary studies.Our... | Whole-genome hybridization studies have suggested that the nuclear genomes of
accessions (natural strains) of Arabidopsis thaliana can differ by several
percent of their sequence. To examine this variation, and as a first step in the
1001 Genomes Project for this species, we produced 15- to 25-fold coverage in
Illu... |
Which topoisomerase is essential in yeast? | Eukaryotic DNA topoisomerase II is an abundant nuclear enzyme that is essential for cell proliferation. Yeast DNA topoisomerase II is encoded by a single-copy, essential gene. | The decatenation activity of DNA topoisomerase II is essential for viability as
eukaryotic cells traverse mitosis. Phosphorylation has been shown to stimulate
topoisomerase II activity in vitro. Here we show that topoisomerase II is a
phosphoprotein in yeast and that the level of incorporated phosphate is
significa... |
What is the genetic basis of Ohdo syndrome? | MED12 cause X-linked Ohdo syndromeIn | We report a series of eight patients with the Say/Barber/Biesecker/Young-Simpson
(SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We
expand on the type, frequency and severity of the clinical characteristics in
this condition; comment on the natural history of Ohdo syndrome and further
... |
Which drugs were tested in the KEYNOTE-006 study? | KEYNOTE-006 study compared pembrolizumab versus ipilimumab for advanced melanoma. | BACKGROUND: The immune checkpoint inhibitor ipilimumab is the standard-of-care
treatment for patients with advanced melanoma. Pembrolizumab inhibits the
programmed cell death 1 (PD-1) immune checkpoint and has antitumor activity in
patients with advanced melanoma.
METHODS: In this randomized, controlled, phase 3 stu... |
What is the purpose of the FRAX scale? | The FRAX score (The WHO Fracture Risk Assessment Tool), is a free web-based clinical scale assessing the 10-year probability of major osteoporotic fracture risk and need for lifestyle advice/reassurance, dual X-ray absorptiometry (DEXA) scanning or preventive treatment. | AIM: Osteoporosis is a frequent comorbidity in patients with chronic obstructive
pulmonary disease (COPD). We have studied the risk of major osteoporotic
fracture and hip fracture in patients with COPD.
PATIENTS AND METHODS: A multicenter cross-sectional study was performed in Spain
in 26 hospitals of 16 regional co... |
Are mutations in the nf1 gene associated with memory? | Yes, distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation. | Neurofibromatosis type 1 (NF1) is a domit genetic disorder that causes tumors
of the peripheral nervous system. In addition, >40% of afflicted children have
learning difficulties. The NF1 protein contains a highly conserved
GTPase-activating protein domain that inhibits Ras activity, and the C-terminal
region regul... |
Has Cas9 gene editing the potential to correct inhereted hearing loss? | CRISPR/Cas9-mediated genome editing can be efficiently performed in the mammalian inner ear in vivo.
The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss (caused by hereditary factors) is a promising method for its treatment. The correc... | Author information:
(1)Department of Otolaryngology, University of Miami Miller School of Medicine,
Miami, FL 33136, USA.
(2)Department of Biology, University of Miami, Miami, FL 33146, USA.
(3)Department of Otology and Laryngology, Harvard Medical School and
Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirm... |
How may CTCF mediate splicing? | Two different mechanisms convey DNA methylation information into the regulation of alternative splicing. The first involves modulation of the elongation rate of RNA polymerase II (Pol II) by CCCTC-binding factor (CTCF) and methyl-CpG binding protein 2 (MeCP2); the second involves the formation of a protein bridge by he... | Alternative splicing of pre-messenger RNA is a key feature of transcriptome
expansion in eukaryotic cells, yet its regulation is poorly understood.
Spliceosome assembly occurs co-transcriptionally, raising the possibility that
DNA structure may directly influence alternative splicing. Supporting such an
association... |
Is ACI-35 a passive vaccine? | No, ACI-35 is an active vaccine. | Author information:
(1)Neurodegenerative Disease Unit, Department of Basic Medicine, Neuroscience, &
Sense Organs, University of Bari Aldo Moro, Bari, Italy.
(2)Department of Clinical Research in Neurology, University of Bari Aldo Moro,
'Pia Fondazione Cardinale G. Panico,' Tricase, Lecce, Italy.
(3)Geriatric Unit & ... |
Which main ribotype of Clostridium difficile is responsible of the recent outbreak? | The outbreak of the hypervirulent strain belonging to ribotype 027 has increased the incidence and severity of CDI in some countries. | Author information:
(1)Department of clinical laboratory, China-Japan Friendship Hospital, No. 2
Yinghua Dongjie, Chaoyang, Beijing, 100029, China.
(2)Institute of Infectious Diseases, Beijing Ditan Hospital, Capital Medical
University, and Beijing Key Laboratory of Emerging infectious Diseases, No. 8
Jingshundongji... |
What is the function of the TFIIS transcriptional factor (Dst1) in yeast? | TFIIS, an elongation factor encoded by DST1 in Saccharomyces cerevisiae, stimulates transcript cleavage in arrested RNA polymerase II. | TFIIS promotes the intrinsic ability of RNA polymerase II to cleave the 3'-end
of the newly synthesized RNA. This stimulatory activity of TFIIS, which is
dependent upon Rpb9, facilitates the resumption of transcription elongation when
the polymerase stalls or arrests. While TFIIS has a pronounced effect on
transcri... |
Is DNA methylation correlated with nucleosome occupancy? | DNA methylation can determine nucleosome positioning. Using a novel bioinformatics pipeline, we show a striking anti-correlation between nucleosome occupancy and DNA methylation at CTCF regions that is not present at promoters. DNA methylation determines nucleosome occupancy in the 5'-CpG islands of tumor suppressor ge... | BACKGROUND: CpG islands and nucleosome-free regions are both found in promoters.
However, their association has never been studied. On the other hand, DNA
methylation is absent in promoters but is enriched in gene bodies. Intragenic
nucleosomes and their modifications have been recently associated with RNA
splicing... |
Which R/Bioconductor package has been developed for the analysis of psychiatric disease genes? | PsyGeNET is a knowledge resource on psychiatric diseases and their genes, developed by text mining and curated by domain experts. Psygenet2r is an R package that contains a variety of functions for leveraging PsyGeNET database and facilitating its analysis and interpretation. The package offers different types of queri... | |
Which Janus kinase does decernotinib target? | Decernotinib (VX-509) is a potent and selective inhibitor of janus kinase 3 (JAK3). | Cytokines, growth factors, and other chemical messengers rely on a class of
intracellular nonreceptor tyrosine kinases known as Janus kinases (JAKs) to
rapidly transduce intracellular signals. A number of these cytokines are
critical for lymphocyte development and mediating immune responses. JAK3 is of
particular i... |
What is the genetic basis of the Delayed Sleep-Phase Syndrome (DSPS)? | Circadian gene mutations are also associated with circadian rhythm disorders such as familial advanced sleep phase syndrome, delayed sleep phase syndrome, and non-24-hour sleep-wake syndrome. Possible association of human leucocyte antigen DR1 with delayed sleep phase syndrome. The study investigated the human leucocy... | The study investigated the human leucocyte antigen (HLA), types A, B and DR, of
42 patients with delayed sleep phase syndrome (DSPS) and compared the
frequencies of the antigens with those in 117 healthy controls. The comparison
revealed that the gene frequencies and positivities of HLA-A, -B and -DR, except
for DR... |
What are jakinibs? | Jakinibs are Janus kinase (JAK) inhibitors. They are considered a new class of kinase inhibitors in cancer and autoimmune disease. Jakinibs can differ substantially in their selectivity against JAKs. | Cytokines are critical for normal cell growth and immunoregulation but also
contribute to growth of maligt cells and drive immune-mediated disease. A
large subset of immunoregulatory cytokines uses the type I and type II cytokine
receptors and pharmacological targeting of these cytokines/cytokines receptors
has pro... |
What is the function of the gene MDA5? | Melanoma differentiation-associated gene 5 (MDA5) is a pattern recognition receptor that recognizes cytoplasmic viral double-stranded RNA (dsRNA) and initiates rapid innate antiviral responses. MDA5 forms a filament-like multimer along the dsRNA leading to oligomerization, which in turn activates the adaptor protein mi... | Sensing of viral RNA by the cytosolic receptors RIG-I and melanoma
differentiation-associated gene 5 (MDA5) leads to innate antiviral response. How
RIG-I and MDA5 are dynamically regulated in innate antiviral response is not
well understood. Here, we show that TRIM38 positively regulates MDA5- and
RIG-I-mediated in... |
Which is the conserved motif of DEAD box proteins? | The conserved motif is: Asp(D)-Glu-(E)-Ala(A)-Asp(D) | |
Which individuals show preferential colonization of the Prevotellaceae bacteria in their guts? | Although the distinction of enterotypes as either discrete clusters or a continuum will require additional investigation, numerous studies have demonstrated the co-exclusion of the closely related Prevotellaceae and Bacteroides genera in the gut microbiota of healthy human subjects where Prevotella appears to be a disc... | Recent evidence suggests that the microbial community in the human intestine may
play an important role in the pathogenesis of obesity. We examined 184,094
sequences of microbial 16S rRNA genes from PCR amplicons by using the 454
pyrosequencing technology to compare the microbial community structures of 9
individua... |
Describe GARLIC (GWAS-based Prediction Toolkit for Connecting Diseases and Cell Types) | GARLIC (GWAS-based Prediction Toolkit for Connecting Diseases and Cell Types) is a bioinformatic toolkit for aetiologically connecting diseases and cell type-specific regulatory maps. GARLIC can be used to retrieve potential disease-causative genetic variants overlapping regulatory sequences of interest. Overall, GARLI... | Genome-wide association studies (GWAS) have emerged as a powerful tool to
uncover the genetic basis of human common diseases, which often show a complex,
polygenic and multi-factorial aetiology. These studies have revealed that 70-90%
of all single nucleotide polymorphisms (SNPs) associated with common complex
dise... |
How does Dst1 knock-out affect transcription in yeast? | While TFIIS has a pronounced effect on transcription elongation in vitro, the deletion of DST1 has no major effect on cell viability. We showed that: dst1 and rpb9 mutants have a synthetic growth defective phenotype when combined with fyv4, gim5, htz1, yal011w, ybr231c, soh1, vps71, and vps72 mutants that is exacerbat... | Deletions of three yeast genes, SET2, CDC73, and DST1, involved in
transcriptional elongation and/or chromatin metabolism were used in conjunction
with genetic array technology to screen approximately 4700 yeast deletions and
identify double deletion mutants that produce synthetic growth defects. Of the
five deleti... |
Which drug can be reversed with idarucizumab? | Idarucizumab is an antibody fragment that specifically reverses dabigatran mediated anticoagulation. | Urgent surgery or life-threatening bleeding requires prompt reversal of the
anticoagulant effects of dabigatran. This study assessed the ability of three-
and four-factor prothrombin complex concentrate (PCC) and idarucizumab (specific
antidote for dabigatran) to reverse the anticoagulant effects of dabigatran in a ... |
What is the function of the TMEM132 genes? | The extra-cellular portions of TMEM132 proteins contain five conserved domains including three tandem immunoglobulin domains, and a cohesin domain homologue, the first such domain found in animals. These findings strongly predict a cellular adhesion function for TMEM132 family, connecting the extracellular medium with ... | |
Does DDX54 play a role in DNA damage response? | Yes. DDX54, a candidate genotoxic stress responsive RNA helicase, regulates transcriptome dynamics during DNA damage response. | The cellular response to genotoxic stress is mediated by a well-characterized
network of DNA surveillance pathways. The contribution of post-transcriptional
gene regulatory networks to the DNA damage response (DDR) has not been
extensively studied. Here, we systematically identified RNA-binding proteins
differentia... |
List main clinical features of the POEMS syndrome. | POEMS is an acronym for the main clinical features of the syndrome, namely, Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin abnormalities. Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis, and Castleman disease. It is a multisystemc disorder wit... | POEMS syndrome, a rare multisystem disease, is a variant of osteosclerotic
myeloma and is characterized by polyneuropathy, organomegaly, endocrinopathy,
monoclonal proteins, and skin changes. Presented herein is a case of POEMS
syndrome with flushing. The flushing was intermittent, involving the face and
upper thir... |
Which retinal dystrophy related gene is targeted by the AAV2-hRPE65v2 drug? | AAV2-hRPE65v2, also called voretigene neparvovec, targets the RPE65 gene, whose mutations lead to retinal dystrophy. | Conflict of interest statement: Declaration of interests SR’s institution has
received grants from Spark Therapeutics and he has provided presentations on
behalf of Spark Therapeutics. DC and AD have received grants from Spark
Therapeutics. JB has received grants from the Foundation Fighting Blindness, the
National... |
What is the function of yeast TERRA RNAs? | The ends of linear eukaryotic chromosomes are transcribed into different species of non-coding transcripts (the telomeric transcriptome), including TERRA (telomeric repeat-containing RNA) molecules. TERRA are part of the DNA damage response triggered by dysfunctional telomeres. In addition to its role as a template-en... | Telomere-repeat-encoding RNA (referred to as TERRA) has been identified as a
potential component of yeast and mammalian telomeres. We show here that TERRA
RNA interacts with several telomere-associated proteins, including telomere
repeat factors 1 (TRF1) and 2 (TRF2), subunits of the origin recognition complex
(ORC... |
What are the 4 cardinal signs of inflammation according to Celsus? | redness or rubor , heat or calor, swelling or tumor, and pain or dolor | John Hunter's A Treatise on the Blood, Inflammation and Gunshot Wounds was
published in 1794. Throughout the nineteenth century this was considered the
most important study of inflammation and has been widely quoted since. After a
section on the nature of blood and the circulatory system, in which he describes
the ... |
Do bacteria from the genus Morexella cause respiratory infections? | Bacteria from the genus Morexella can cause respiratory infections | The efficacy and safety of oral ofloxacin, 400 mg once daily, for the treatment
of patients with lower respiratory tract infections were studied. The most
common species recovered from the sputum specimens of these patients were
Haemophilus influenzae, followed by Streptococcus pneumoniae (S. pneumoniae),
Staphyloc... |
Which two genes are implicated in Juvenile polyposis syndrome? | Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation being identified in about 40-50% of patients. | BACKGROUND: In patients with juvenile polyposis syndrome (JPS) the frequency of
large genomic deletions in the SMAD4 and BMPR1A genes was unknown.
METHODS: Mutation and phenotype analysis was used in 80 unrelated patients of
whom 65 met the clinical criteria for JPS (typical JPS) and 15 were suspected to
have JPS.
R... |
Do chromatin features predict genes associated with eQTLs? | Yes, genomic proximity plus five TF and chromatin features are able to predict>90% of target genes within 1 megabase of eQTLs | Cell type-specific gene expression in humans involves complex interactions
between regulatory factors and DNA at enhancers and promoters. Mapping studies
for expression quantitative trait loci (eQTLs), transcription factors (TFs) and
chromatin markers have become widely used tools for identifying gene regulatory
el... |
List the 6 genes associated with the autosomal recessive form of Osteogenesis imperfecta | There are at least 6 genes associated with osteogenesis imperfecta, Sp7/Osx, FK506-binding protein, Hsp47/SERPINH1, WNT1, CRTAP, P3H1, and PPIB, LEPRE1,PLOD2, TMEM38B | Classic osteogenesis imperfecta, an autosomal domit disorder associated with
osteoporosis and bone fragility, is caused by mutations in the genes for type I
collagen. A recessive form of the disorder has long been suspected. Since the
loss of cartilage-associated protein (CRTAP), which is required for
post-translat... |
What is masitinib an inhibitor of? | Masitinib is an inhibitor of mast cell-glia axis and a Fyn kinase blocker. It is an oral tyrosine kinase inhibitor with activity against c-Kit and platelet-derived growth factor receptors (PDGFR). | This study evaluated the therapeutic potential of masitinib, an oral tyrosine
kinase inhibitor with activity against c-Kit and platelet-derived growth factor
receptors (PDGFR), to reduce ischemic brain area and neurological deficit. Using
a well-established filament model of ischemic stroke in rats, the responses to... |
What is the name of the RNAi investigational drug being developed against hereditary amyloidosis? | Patisiran. | BACKGROUND: Patisiran is an investigational RNA interference (RNAi) therapeutic
in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a
progressive disease associated with significant disability, morbidity, and
mortality.
METHODS: Here we describe the rationale and design of the Phase 3 APOLLO stu... |
What is the function of the H19 (ICR) locus in the human genome? | We found that localized DNA demethylation at the H19 imprinting control region (ICR) induced by 5-AzaCdR, reduced IGF2, increased H19 expression, increased CTCF and cohesin recruitment and changed histone modifications. | We have identified a region with characteristics of a paternal-specific
methylation imprint at the human H19 locus. This region, extending from -2.0 kb
upstream to the start of transcription, is heavily methylated in sperm and on
the paternal allele in somatic cells. This methylation was preserved during
pre-implan... |
What is the mode of action of teriparatide? | Teripartide is is an effective anabolic (i.e., bone growing) agent used in the treatment of some forms of osteoporosis. | An 18-month randomized double-blind study was conducted in postmenopausal women
with osteoporosis to compare the effects of once-daily teriparatide 20 microg
with alendronate 10 mg on bone histomorphometry. Biopsies were obtained from 42
patients. Indices of bone formation were significantly higher after 6 or 18
mo... |
What is the Strelka workflow? | Whole genome and exome sequencing of matched tumor-normal sample pairs is becoming routine in cancer research. The consequent increased demand for somatic variant analysis of paired samples requires methods specialized to model this problem so as to sensitively call variants at any practical level of tumor impurity. St... | MOTIVATION: Whole genome and exome sequencing of matched tumor-normal sample
pairs is becoming routine in cancer research. The consequent increased demand
for somatic variant analysis of paired samples requires methods specialized to
model this problem so as to sensitively call variants at any practical level of
tu... |
Describe the Manta algorithm for detection of structural variants | Manta is a method to discover structural variants and indels from next generation sequencing data. Manta is optimized for rapid germline and somatic analysis, calling structural variants, medium-sized indels and large insertions on standard compute hardware in less than a tenth of the time that comparable methods requi... | : We describe Manta, a method to discover structural variants and indels from
next generation sequencing data. Manta is optimized for rapid germline and
somatic analysis, calling structural variants, medium-sized indels and large
insertions on standard compute hardware in less than a tenth of the time that
comparab... |
Is Kummell’s disease an avascular necrosis of the vertebral body? | Yes, Kummell’s disease is an avascular necrosis of the vertebral body. | Avascular necrosis of a vertebral body, a relatively uncommon entity, is caused
by maligcy, infection, radiation, systemic steroid treatment, trauma, and the
like.1 Vertebral osteonecrosis induced by trauma is called Kvmell's disease,
because it was initially described by Hermann Kvmell of Germany in 1891.2 This
pa... |
What causes "Puffy hand syndrome"? | Puffy hand syndrome is a complication of intravenous drug abuse. | The incidence of vascular complications due to drug abuse is at present
increasing due to new types of drugs and to the different ways of intake of such
substances. The vascular complications related to drug abuse may affect venous,
arterious and lymphatic districts and in particular: ischemia following
intra-arter... |
Describe mechanism of action of Ozanimod. | Ozanimod is a novel, selective, oral sphingosine-1-phosphate (1 and 5) receptor modulator in clinical development for the treatment of chronic immune-mediated, inflammatory diseases, such as multiple sclerosis and inflammatory bowel disease. Yet its exact mechanism of action is unknown. | Sphingosine 1-phosphate (S1P) receptor modulators possess a unique mechanism of
action as disease-modifying therapy for multiple sclerosis (MS). Subtype 1 S1P
receptors are expressed on the surfaces of lymphocytes and are important in
regulating egression from lymph nodes. The S1P receptor modulators indirectly
ant... |
Describe swirl sign in intracerebral hemorrhage. | Swirl sign is described as areas of low attenuation, radiolucency or irregular density. It was previously described in epidural hematomas. In intracerebral hemorrhage swirl sign is associated with greater hematoma volume, unfavorable outcomes and greater mortality risk. | BACKGROUND: Swirl sign has previously been described in epidural hematomas as
areas of low attenuation, radiolucency or irregular density. The aims of this
study were to describe swirl sign in ICH, study its prevalence, study the
reliability of the subjective evaluation on computed tomography (CT), and to
explore i... |
What is Morgellons disease? | It is a skin condition in which individuals have skin lesions that contain some kind of fibers. Patients often complain of bugs crawling under their skin. The disease is of unknown origin and may be psychosomatic, however recent evidence indicates it could be transmitted by a tick. | Morgellons disease is a controversial and poorly defined symptom cluster of skin
lesions and somatic symptoms, most notably 'fibers' in the skin. Because of
widespread coverage in the media and on the Internet, there are an increasing
number of patients presenting to dermatologists. We present three patients who
be... |
What is Cellbase? | CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources. | During the past years, the advances in high-throughput technologies have
produced an unprecedented growth in the number and size of repositories and
databases storing relevant biological data. Today, there is more biological
information than ever but, unfortunately, the current status of many of these
repositories ... |
What is the asosciation between the eustachian tube and the palatine muscle of the uvula? | Palatal musculature is known to be responsible for the active opening of the eustachian tube. | |
Are Conserved Nonexonic Elements (CNEEs) important in phylogenomics research? | Yes. Conserved Nonexonic Elements (CNEEs) appear to be promising as phylogenomic markers, yielding phylogenetic resolution as high as for UCEs and introns but with fewer gaps, less ambiguity in alignments and with patterns of nucleotide substitution more consistent with the assumptions of commonly used methods of phylo... | Noncoding markers have a particular appeal as tools for phylogenomic analysis
because, at least in vertebrates, they appear less subject to strong variation
in GC content among lineages. Thus far, ultraconserved elements (UCEs) and
introns have been the most widely used noncoding markers. Here we analyze and
study ... |
What is the definition of General Regulatory Factors (GRFs)? | GRFs, which bind to sites scattered throughout the genome within promoters, would not only play a key role in regulating gene expression but also partition the genome in functionally independent domains. | Insulators are sequences that uncouple adjacent chromosome domains. Here we have
shown that Saccharomyces cerevisiae Rap1p and Abf1p proteins are endowed with a
potent insulating capacity. Insulating domains in Rap1p coincide with previously
described transcription activation domains, whereas four adjacent subdomain... |
Which virus can be diagnosed with the monospot test? | Epstein-Barr virus (EBV) can be detected with the monospot test. EBV is a highly prevalent virus, transmitted via saliva, which often causes asymptomatic infection in children but frequently results in infectious mononucleosis in adolescents. | Infectious Mononucleosis (IM), a benign lymphoproliferative disease, is the best
known clinical syndrome caused by Epstein-Barr Virus (EBV). It usually resolves
over a period of weeks or months without sequelae but may occasionally be
complicated by a wide variety of neurologic, hematologic, hepatic, respiratory,
a... |
Why is the Fyn kinase considered a promising therapeutic target for Alzheimer's Disease? | Fyn is an attractive target for AD therapeutics, not only based on its activation by Aβ via cellular prion protein but also due to its known interaction with tau, uniquely linking the two key pathologies in AD. | The past decade has brought tremendous progress in unraveling the
pathophysiology of Alzheimer's disease (AD). While increasingly sophisticated
immunotherapy targeting soluble and aggregated brain amyloid-beta (Aβ) continues
to dominate clinical research in AD, a deeper understanding of Aβ physiology has
led to the... |
What is the link between TADs and GRBs? | Topologically associating domains (TADs) are ancient features that coincide with Metazoan clusters of extreme noncoding conservation (aka GRBs). | Developmental genes in metazoan genomes are surrounded by dense clusters of
conserved noncoding elements (CNEs). CNEs exhibit unexplained extreme levels of
sequence conservation, with many acting as developmental long-range enhancers.
Clusters of CNEs define the span of regulatory inputs for many important
developm... |
What is Target Explorer? | Target Explorer is an automated tool for the identification of new target genes for a specified set of transcription factors. It was specifically designed for the well-annotated Drosophila melanogaster genome, but most options can be used for sequences from other genomes as well. Target Explorer is available at http://... | |
Can the yeast protein Abf1 act as insulator? | Saccharomyces cerevisiae Rap1p and Abf1p proteins are endowed with a potent insulating capacity | Insulators are sequences that uncouple adjacent chromosome domains. Here we have
shown that Saccharomyces cerevisiae Rap1p and Abf1p proteins are endowed with a
potent insulating capacity. Insulating domains in Rap1p coincide with previously
described transcription activation domains, whereas four adjacent subdomain... |
What does the human IVIG treatment for Alzheimer's disease contain? | Human intravenous immunoglobulin (IVIG) is a mixture of polyclonal IgG antibodies isolated and pooled from thousands of healthy human donors. | Alzheimer's disease (AD) is a chronic neurodegenerative disease associated with
intracerebral accumulation of aggregated amyloid-beta (Aβ) and tau proteins, as
well as neuroinflammation. Human intravenous immunoglobulin (IVIG) is a mixture
of polyclonal IgG antibodies isolated and pooled from thousands of healthy hu... |
Is there any linear-time and linear-space algorithm for the computation of avoided words in biological sequences? | Yes. There is a linear-time and linear-space algorithm for the computation of avoided words of length k in a given sequence x. | |
What is the mechanism of the auxin-inducible degron system? | Fusion of inducible degradation signals, so-called degrons, to cellular proteins is an elegant method of controlling protein levels in vivo. The auxin-inducible degron (AID) system allows the rapid and reversible proteolysis of proteins of interest, and enables the generation of conditional mutants of budding yeast. S... | BACKGROUND: Inducible inactivation of a protein is a powerful approach for
analysis of its function within cells. Fission yeast is a useful model for
studying the fundamental mechanisms such as chromosome maintece and cell
cycle. However, previously published strategies for protein-depletion are
successful only for... |
Which bacteria causes erythrasma? | Corynebacterium minutissimum is the bacteria that leads to cutaneous eruptions of erythrasma and is the most common cause of interdigital foot infections. | Infective embolic retinopathy as a sequela of bacterial endocarditis is
described in a 31-year-old woman with mitral valve prolapse. The infective
organism, Corynebacterium minutissimum, has not been previously found to cause
ocular or multisystem diseases. It is a common mucocutaneous inhabitant which
causes eryth... |
Mutations in which gene cause Schimke immune-osseous dysplasia? | SMARCAL1, also known as HARP, is an ATP-dependent annealing helicase that stabilizes replication forks during DNA damage. Mutations in this gene are the cause of Schimke immune-osseous dysplasia, an autosomal recessive disorder characterized by T-cell immunodeficiency and growth dysfunctions. | Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive
pleiotropic disorder with the diagnostic features of spondyloepiphyseal
dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide
linkage mapping and a positional candidate approach, we determined that
mutations in SMARC... |
What is the most common histological diagnosis of "butterfly glioma"? | Butterfly glioma is glioblastoma multiforme invading corpus callosum . | A 45 year-old male with a butterfly glioma received stereotactic biopsy for
histologic confirmation of the clinical diagnosis. Microscopically, the results
were controversial since some biopsy specimens showed distinct inflammatory
changes, while others displayed typical features of a maligt glioma. The
patient die... |
Which chromosomes are implicated in the Emanuel syndrome? | Emanuel syndrome is associated with supernumerary chromosome t(11;22)(q23;q11), which consists of the extra genetic material from chromosomes 11 and 22. | Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear
anomalies, heart defects, genital anomalies, hypotonia, and mental retardation
are the main features of the syndrome. We report a nine-year-old boy with the
t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his
mother, and... |
Is a CpG island methylator phenotype involved in ependymomas? | Although devoid of recurrent single nucleotide variants and focal copy number aberrations, poor-prognosis hindbrain ependymomas exhibit a CpG island methylator phenotype | Epigenetic alterations, including methylation, have been shown to be an
important mechanism of gene silencing in cancer. Ependymoma has been well
characterized at the DNA copy number and mRNA expression levels. However little
is known about DNA methylation changes. To gain a more global view of the
methylation prof... |
Are loop domains preserved upon cohesin loss? | No. Degradation of cohesin leads to elimination of loop domains. Neither compartment domains nor histone marks are affected. Loss of loop domains does not lead to widespread ectopic gene activation but does affect a significant minority of active genes. | Author information:
(1)The Center for Genome Architecture, Baylor College of Medicine, Houston, TX
77030, USA; Department of Molecular and Human Genetics, Baylor College of
Medicine, Houston, TX 77030, USA; Department of Structural Biology, Stanford
University School of Medicine, Stanford, CA 94305, USA.
(2)The Cent... |
Which workflow in Bioconductor has been developed for accessing human RNA-seq samples? | The recount2 resource is composed of over 70,000 uniformly processed human RNA-seq samples spanning TCGA and SRA, including GTEx. | The recount2 resource is composed of over 70,000 uniformly processed human
RNA-seq samples spanning TCGA and SRA, including GTEx. The processed data can be
accessed via the recount2 website and the recount Bioconductor package. This
workflow explains in detail how to use the recount package and how to integrate
it ... |
What does VBP15 do to skeletal muscle? | VBP15 protects and promotes efficient repair of skeletal muscle cells. Potent inhibition of NF-κB is mediated through protein interactions of the glucocorticoid receptor, however VBP15 shows significantly reduced hormonal receptor transcriptional activity. In DMD model mice it improves muscle strength, live-imaging an... | Absence of dystrophin makes skeletal muscle more susceptible to injury,
resulting in breaches of the plasma membrane and chronic inflammation in
Duchenne muscular dystrophy (DMD). Current management by glucocorticoids has
unclear molecular benefits and harsh side effects. It is uncertain whether
therapies that avoi... |
What is filgotinib? | Filgotinib is an oral selective Janus kinase inhibitor. It has been tested in patients with rheumatoid arthritis and Chroni's disease, and has been shown to be safe and efficacious. | BACKGROUND: Filgotinib (GLPG0634, GS-6034) is a once-daily, orally administered,
Janus kinase 1 (JAK1)-selective inhibitor. The FITZROY study examined the
efficacy and safety of filgotinib for the treatment of moderate-to-severe
Crohn's disease.
METHODS: We did a randomised, double-blind, placebo-controlled phase 2 ... |
What is Q-nexus? | Q-nexus is a comprehensive and efficient analysis pipeline designed for ChIP-nexus. | Author information:
(1)Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin,
Augustenburger Platz 1, Berlin, 13353, Germany.
(2)Berlin Brandenburg Center for Regenerative Therapies (BCRT),
Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353,
Germany.
(3)Centre for Genomi... |
What is the mechanism of action of Tisagenlecleucel? | Tisagenlecleucel CD19-directed chimeric antigen receptor T cells (CART19) product that cause reprogramming a patient's own T cells with a transgene encoding a chimeric antigen receptor to identify and eliminate CD19-expressing cells. Its is is approved for children and young adults with relapsed or refractory B-cell ac... | An expert panel recommended approval of Novartis's experimental chimeric antigen
T-cell therapy, tisagenlecleucel, for children and young adults with relapsed or
refractory B-cell acute lymphoblastic leukemia. The therapy would be the first
of its kind approved for cancer and has the potential to transform standard ... |
What is LHON, also known as Lebers syndrome? | Leber's hereditary optic neuropathy (LHON) is a common inherited mitochondrial disorder that is characterized by the degeneration of the optic nerves, leading to vision loss. | Leber hereditary optic neuropathy (LHON) presents with sudden onset of visual
loss mainly in young adult males. LHON is not uncommon in Australia, accounting
for 2% of invalid blind pensions. We have identified 20 unrelated families
carrying mitochondrial DNA mutations associated with LHON and 135 of 291
individual... |
What is the ReliableGenome? | The increasing adoption of clinical whole-genome resequencing (WGS) demands for highly accurate and reproducible variant calling (VC) methods. The observed discordance between state-of-the-art VC pipelines, however, indicates that the current practice still suffers from non-negligible numbers of false positive and nega... | MOTIVATION: The increasing adoption of clinical whole-genome resequencing (WGS)
demands for highly accurate and reproducible variant calling (VC) methods. The
observed discordance between state-of-the-art VC pipelines, however, indicates
that the current practice still suffers from non-negligible numbers of false
p... |
List polyubiquitin binding proteins involved in NF-kappaB signaling. | NEMO
A20
ABIN-1
ABIN-2
optineurin
p62 | Attachment of ubiquitin to proteins represents a central mechanism for the
regulation of protein metabolism and function. In the NF-kappaB pathway, binding
of NEMO to polyubiquitinated substrates initiates the pathway in response to
cellular stimuli. Other polyubiquitin binding proteins can antagonize this
pathway ... |
What are the prednisone side effects in DMD patients? | Side effects of prednisone in DMD patients include reduced growth rate and increase in body weight. | |
Which is the specificity of deubiquitinase USP25? | Ubiquitin Specific Protease 25 (USP25), a member of the deubiquitinase family, is involved in several disease-related signal pathways including myogenesis, immunity and protein degradation. It specially catalyzes the hydrolysis of the K48-linked and K63-linked polyubiquitin chains. | Ubiquitin Specific Protease 25 (USP25), a member of the deubiquitinase family,
is involved in several disease-related signal pathways including myogenesis,
immunity and protein degradation. It specially catalyzes the hydrolysis of the
K48-linked and K63-linked polyubiquitin chains. USP25 contains one
ubiquitin-asso... |
Is Loss of function one of the cardinal signs of inflammation? | Functio Laesa also known as loss of function is considered to be the 5th cardinal sign of inflammation. | The concept of the four cardinal signs of acute inflammation comes from
antiquity as rubor et tumor cum calore et dolore, (redness and swelling with
heat and pain) extended later by functio laesa (loss of function). The
contemporary understanding of this process we owe to 19th-century milestone
discoveries by Rudol... |
Does the association of PARP1 and CTCF follow a circadian rhythm? | Synchronization of the circadian rhythm by serum shock induces oscillations in PARP1-CTCF interactions, which is accompanied by oscillating recruitment of circadian loci to the lamina, followed by the acquisition of repressive H3K9me2 marks and transcriptional attenuation. Furthermore, depletion of H3K9me2/3, inhibitio... | |
What induces Arabidopsis ROF1 expression? | The abundance of ROF1 increased several-fold under stress conditions such as wounding, heat stress or exposure to elevated NaCl levels. | We have isolated clones of an Arabidopsis gene (ROF1, for rotamase FKBP)
encoding a high molecular weight member of the FK506 binding protein (FKBP)
family. The deduced amino acid sequence of ROF1 predicts a 551-amino acid, 62
kDa polypeptide which is 44% identical to human FKBP59 - a 59 kDa FKBP which
binds to the... |
What is the preferred orientation of CTCF binding sites for chromatin looping? | chromatin loops preferentially form between CTCF binding sites oriented in a convergent manner. CTCF sites at loop anchors occur predominantly (>90%) in a convergent orientation, with the asymmetric motifs "facing" one another. | Author information:
(1)The Center for Genome Architecture, Baylor College of Medicine, Houston, TX
77030, USA; Department of Molecular and Human Genetics, Baylor College of
Medicine, Houston, TX 77030, USA; Department of Computer Science, Department of
Computational and Applied Mathematics, Rice University, Houston,... |
Does erythromycin increase risk of hypertrophic pyloric stenosis? | Yes, post-natal erythromycin exposure is associated with increased risk of hypertrophic pyloric stenosis. The association is stronger when exposure occurs in the first 2 weeks of life. | OBJECTIVES: To evaluate the risk for infantile hypertrophic pyloric stenosis
(IHPS) among infants prescribed systemic erythromycin, infants prescribed a
course of erythromycin ophthalmic ointment, and infants whose mothers were
prescribed a macrolide antibiotic during pregcy.
STUDY DESIGN: Retrospective cohort study... |
How many amino acids does davunetide consist of? | Davunetide or NAP is an eight amino acid peptide. | Genome-wide association studies have identified strong associations between the
risk of developing Parkinson's disease (PD) and polymorphisms in the genes
encoding α-synuclein and the microtubule-associated protein tau. However, the
contribution of tau and its phosphorylated form (p-tau) to α-synuclein-induced
path... |
Can a circRNA be translated into protein? | Circ-ZNF609 is associated with heavy polysomes, and it is translated into a protein in a splicing-dependent and cap-independent manner, providing an example of a protein-coding circRNA in eukaryotes.
Circular RNAs (circRNAs) represent a large class of noncoding RNAs (ncRNAs) that have recently emerged as regulators of ... | Circular RNAs (circRNAs) are long, non-coding RNAs that result from the
non-canonical splicing of linear pre-mRNAs. However, the characteristics and the
critical role of circRNA in co-/post-transcriptional regulation were not well
recognized until the "microRNA sponge" function of circRNA is discovered. Recent
stud... |
What is the phenomenon of gene kissing? | Clustering of genes with similar expression patterns constitutes a phenomenon sometimes called "gene kissing." | At certain evolutionary junctures, two or more mutations participating in the
build-up of a new complex function may be required to become available
simultaneously in the same individuals. How could this happen in higher
organisms whose populations are small compared to those of microbes, and in
which chances of co... |
What protein is the most common cause of hereditary renal amyloidosis? | The most common cause of hereditary renal amyloidosis is over expression of a mutant form of the Fibrinogen A Alpha protein | A French kindred with autosomal domit hereditary renal amyloidosis was found
to have a novel mutation in the fibrinogen Aalpha-chain gene. In this kindred,
renal disease appeared early in life and led to terminal renal failure at an
early age. Renal transplantation resulted in rapid destruction of the allograft
by ... |
What are the side effects of deflazacort in DMD patients? | The side effects observed in DMD patients following deflazacort treatment include growth failure and weight gain, facial fullness, blood pressure, bone health, cataracts, gastrointestinal symptoms, behavior, hypertrichosis, and need for medication interventions. |
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