question stringlengths 13 215 | ground_truth stringlengths 2 3.15k | context stringlengths 0 157k |
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Which human disease is experimental autoimmune encephalomyelitis (EAE) model for? | Experimental autoimmune encephalomyelitis (EAE) is an animal model of MS (Multiple Sclerosis). | OBJECTIVES: It has been shown that calcitriol and all-trans retinoic acid (ATRA)
have modulatory effects on the immune system. The present study investigates the
synergistic effects of combination treatment of calcitriol and ATRA in
experimental autoimmune encephalomyelitis (EAE), an animal model of multiple
sclero... |
What is the cause if the rare disease cystinosis? | Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. | Cystinosis is a rare, autosomal recessive disorder leading to defective
transport of cystine out of lysosomes. Subsequent cystine crystal accumulation
can occur in various tissues, including the ocular surface. This review explores
the efficacy of cysteamine hydrochloride eye drops in the treatment of corneal
cysti... |
Is lithium effective for treatment of amyotrophic lateral sclerosis? | No, lithium is not effective for treatment of amyotrophic lateral sclerosis. | ALS is a devastating neurodegenerative disorder with no effective treatment. In
the present study, we found that daily doses of lithium, leading to plasma
levels ranging from 0.4 to 0.8 mEq/liter, delay disease progression in human
patients affected by ALS. None of the patients treated with lithium died during
the ... |
Should dacomitinib be used for treatment of glioblastoma patients? | No, dacomitinib has a limited single-agent activity in recurrent glioblastoma with EGFR amplification. | BACKGROUND: We conducted a multicenter, 2-stage, open-label, phase II trial to
assess the efficacy and safety of dacomitinib in adult patients with recurrent
glioblastoma (GB) and epidermal growth factor receptor gene (EGFR) amplification
with or without variant III (EGFRvIII) deletion.
METHODS: Patients with first ... |
Which molecular does daratumumab target? | Daratumumab is an anti-CD38 antibody. | Natural killer (NK) cell-based immunotherapy is a promising novel approach to
treat cancer. However, NK cell function has been shown to be potentially
diminished by factors common in the tumor microenvironment (TME). In this study,
we assessed the synergistic potential of antibody-dependent cell-mediated
cytotoxici... |
What is etarfolatide used for? | Etarfolatide in the form of 99mTc-etarfolatide is used as a companion imaging agent | PURPOSE: Vintafolide (EC145) is a folic acid-desacetylvinblastine conjugate that
binds to the folate receptor (FR), which is expressed on the majority of
epithelial ovarian cancers. This randomized phase II trial evaluated vintafolide
combined with pegylated liposomal doxorubicin (PLD) compared with PLD alone. The
... |
What is the function of Plasminogen activator inhibitor 1? | Plasminogen activator inhibitor-1 (PAI-1) is an important physiological inhibitor of tissue-type plasminogen activator (tPA) and plays a critical role in fibrinolysis. | OBJECTIVES: Plasminogen activator inhibitor-1 (PAI-1), a crucial regulator of
fibrinolysis, is increased in sepsis, but its values in predicting disease
severity or mortality outcomes have been controversial. Therefore, we conducted
a systematic review and meta-analysis of its predictive values in sepsis.
METHODS: P... |
What is the mechanism of action of durvalumab? | Durvalumab is a selective, high-affinity, human IgG1 monoclonal antibody that blocks PD-L1, which binds to PD-1 and CD80, but not to PD-L2. It is Immune checkpoint inhibitor used of treating advanced cancer patients, principally antibodies against CTLA-4 and PD-1 or PD-L1. | Anti-programmed cell death-1 and anti-programmed cell death ligand-1 (PD-L1)
monotherapies have shown promising clinical activity in advanced, refractory
non-small-cell lung cancer (NSCLC), but antitumor activity appears to be greater
in patients with PD-L1(+) tumors compared with patients harboring PD-L1(-)
tumors... |
Which tool has been developed for GPU-accelerated alignment of bisulfite-treated DNA sequences? | The alignment of bisulfite-treated DNA sequences (BS-seq reads) to a large genome involves a significant computational burden beyond that required to align non-bisulfite-treated reads. In the analysis of BS-seq data, this can present an important performance bottleneck that can be mitigated by appropriate algorithmic a... | MOTIVATION: The alignment of bisulfite-treated DNA sequences (BS-seq reads) to a
large genome involves a significant computational burden beyond that required to
align non-bisulfite-treated reads. In the analysis of BS-seq data, this can
present an important performance bottleneck that can be mitigated by appropriat... |
Which disease is gemtuzumab ozogamicin used for? | Gemtuzumab ozogamicin is used for the treatment of acute myeloid leukemia | Gemtuzumab ozogamicin (GO) is an anti-CD33 antibody-drug conjugate for the
treatment of acute myeloid leukemia (AML). Although GO shows a narrow
therapeutic window in early clinical studies, recent reports detailing a
modified dosing regimen of GO can be safely combined with induction
chemotherapy, and the combinat... |
What is GeneWeaver used for? | GeneWeaver: a web-based system for integrative functional genomics. | High-throughput genome technologies have produced a wealth of data on the
association of genes and gene products to biological functions. Investigators
have discovered value in combining their experimental results with published
genome-wide association studies, quantitative trait locus, microarray,
RNA-sequencing a... |
Are there ultraconserved regions in the budding yeast (Saccharomyces cerevisiae)? | Yes. In addition to some fundamental biological functions, ultraconserved regions play an important role in the adaptation of Saccharomyces cerevisiae to the acidic environment. | MOTIVATION: In the evolution of species, a kind of special sequences, termed
ultraconserved sequences (UCSs), have been inherited without any change, which
strongly suggests those sequences should be crucial for the species to survive
or adapt to the environment. However, the UCSs are still regarded as mysterious
g... |
Which disease can be classified with the Awaji Criteria? | Awaji Criteria are used for amyotrophic lateral sclerosis. | The Awaji Commission recently proposed a modification of the electrodiagnostic
criteria for ALS. We assessed whether the Awaji recommendations improve the
sensitivity of the early diagnosis of ALS. In a retrospective study we reviewed
clinical and neurophysiological data for 213 patients who visited our motor
neuro... |
Endolymphatic hydrops is associated with Meniere’s disease. Please provide a summary of endoymphatic hydrops including the symptoms and affected body part. | Endolymphatic hydrops is a disorder of the inner ear. It consists of an excessive build-up of the endolymph fluid, which fills the hearing and balance structures of the inner ear. The symptoms of endolymphatic hydrops include the feeling of pressure or fullness in the ears, hearing loss, tinnitus (ringing in the ears) ... | CONCLUSION: All definite Meniere's disease (MD) had endolymphatic hydrops (EH)
at least in the cochlea or the vestibule. Symptoms of MD may appear after
formation of EH. It is assumed that the probability of immediate progression to
bilateral MD from unilateral MD is very low in patients without EH on the
non-affec... |
Where does gemtuzumab ozogamicin bind? | Gemtuzumab ozogamicin binds to CD33 | |
Where, in what US state, was there a measles outbreak in an Amish community | The measles outbreak started an Amish community in Ohio | Measles outbreaks in the United States continue to occur in subpopulations with
sufficient numbers of undervaccinated individuals, with a 2014 outbreak in Amish
communities in Ohio pushing the annual cases to the highest national number
reported in the last 20 years. We adapted an individual-based model developed to... |
Is there any role for HUWE1 in MYC signalling? | Yes. HUWE1 is a critical colonic tumour suppressor gene that prevents MYC signalling, DNA damage accumulation and tumour initiation. | Cancer genome sequencing projects have identified hundreds of genetic
alterations, often at low frequencies, raising questions as to their functional
relevance. One exemplar gene is HUWE1, which has been found to be mutated in
numerous studies. However, due to the large size of this gene and a lack of
functional an... |
List MHC-I-associated inflammatory disorders. | ankylosing spondylitis
birdshot chorioretinopathy
Behçet's disease
psoriasis | Birdshot chorioretinopathy is a rare ocular inflammation whose genetic
association with HLA-A*29:02 is the highest between a disease and a major
histocompatibility complex (MHC) molecule. It belongs to a group of
MHC-I-associated inflammatory disorders, also including ankylosing spondylitis,
psoriasis, and Behçet's... |
What is the predicted function for TMEM132 family? | The TMEM132 family proteins are strongly predicted to have a cellular adhesion function, connecting the extracellular medium with the intracellular actin cytoskeleton. | |
What type of topoisomerase inhibitor is gepotidacin? | Gepotidacin is a type IIA topoisomerase inhibitor. | Gepotidacin, a novel triazaacenaphthylene antibacterial agent, is the first in a
new class of type IIA topoisomerase inhibitors with activity against many
biothreat and conventional pathogens, including Neisseria gonorrhoeae To assist
ongoing clinical studies of gepotidacin to treat gonorrhea, a multilaboratory
qua... |
What is the mechanism of action of Alpelisib? | Alpelisib is selective inhibitor of Phosphatidylinositol 3-Kinase α (PI3Kα). It is used for treatment of cancer. | The PI3K-AKT-mTOR pathway is frequently activated in cancer. PI3K inhibitors,
including the pan-PI3K inhibitor buparlisib (BKM120) and the PI3Kα-selective
inhibitor alpelisib (BYL719), currently in clinical development by Novartis
Oncology, may therefore be effective as anticancer agents. Early clinical
studies wit... |
What is the normal function p53? | Wild-type p53 can suppress tumour development by multiple pathways. | P53 tumor suppressor gene mutations occur in the majority of human cancers and
contribute to tumor development, progression and therapy resistance. Direct
functional restoration of p53 as a transcription factor has been difficult to
achieve in the clinic. We performed a functional screen using a
bioluminescence-bas... |
What is eravacycline? | Finafloxacin is a fluoroquinolone antimicrobial agent that exhibits optimum efficacy in slightly acidic environments. It is being developed to treat serious bacterial infections associated with an acidic environment, including urinary tract infections, complicated urinary tract infections, pyelonephritis and Helicobact... | |
What is PEGylation? | Attachment of a chain of poly(ethylene glycol) (PEG) to a therapeutic protein, a process widely known as PEGylation, can lead to several beneficial effects. It has the potential to significantly delay aggregation of the protein by steric shielding, a frequently encountered issue in the development of protein drugs. Mor... | Attachment of a chain of poly(ethylene glycol) (PEG) to a therapeutic protein, a
process widely known as PEGylation, can lead to several beneficial effects. It
has the potential to significantly delay aggregation of the protein by steric
shielding, a frequently encountered issue in the development of protein drugs. ... |
What is the 3D tomography imaging technique for diagnosis of eye disease? | Currently, eye care professionals use optical coherence tomography (OCT) scans to help diagnose eye conditions. | Glaucoma is a chronic neurodegenerative disease characterized by loss of retinal
ganglion cells, resulting in distinctive changes in the optic nerve head (ONH)
and retinal nerve fiber layer (RNFL). Important advances in technology for
non-invasive imaging of the eye have been made providing quantitative tools to
me... |
Which was the first mutant IDH2 inhibitor to be approved for patients with acute myeloid leukemia? | Enasidenib was the first mutant IDH2 inhibitor to be approved for the treatment of refractory and relapsed acute myeloid leukemia. | BACKGROUND: Acute myeloid leukemia is the collective name for different types of
leukemias of myeloid origin affecting blood and bone marrow. The overproduction
of immature myeloblasts (white blood cells) is the characteristic feature of
AML, thus flooding the bone marrow and reducing its capacity to produce normal ... |
What part of the body is affected by Meniere's disease? | The inner ear is the body part that is associated with Meniere's disease. | Meniere's disease is a disease of the inner ear characterized by a triad of
symptoms: vestibular symptoms, auditory symptoms, and pressure. The pathologic
correlate of Meniere's disease is endolymphatic hydrops and the etiopathogenesis
involves a deficiency in the absorption of endolymph. The pathophysiology of the ... |
Which two drugs are included in the MAVYRET pill? | MAVYRET pill includes glecaprevir and pibrentasvir. It is used for treatment of hepatitis C infection. | |
Describe the 4D-CHAINS algorithm | 4D-CHAINS/autoNOE-Rosetta is a complete pipeline for NOE-driven structure determination of medium- to larger-sized proteins. The 4D-CHAINS algorithm analyzes two 4D spectra recorded using a single, fully protonated protein sample in an iterative ansatz where common NOEs between different spin systems supplement convent... | Automated methods for NMR structure determination of proteins are continuously
becoming more robust. However, current methods addressing larger, more complex
targets rely on analyzing 6-10 complementary spectra, suggesting the need for
alternative approaches. Here, we describe 4D-CHAINS/autoNOE-Rosetta, a complete
... |
What is an organoid? | Organoids are a three-dimensional in vitro culture platform constructed from self-organizing stem cells. They can almost accurately recapitulate tumor heterogeneity and microenvironment "in a dish," which surpass established cell lines and are not as expensive and time-consuming as PDTXs. As an intermediate model, tumo... | Author information:
(1)Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, PR China.
(2)Department of Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji
University School of Medicine, Shanghai 200433, PR China.
(3)Department of Neurosurgery, General Hospital of Ji Military Command, Ji
250031, ... |
Do raspberries improve postprandial glucose and acute and chronic inflammation in adults with type 2 Diabetes? | yes, raspberries improve postprandial glucose and acute and chronic inflammation in adults with type 2 Diabetes. | |
Are Mesenchymal stem cells (MSC) multipotent cells? | Yes, Mesenchymal stem cells (MSC) are multipotent cells. | |
Which two drugs are included in the Entresto pill? | Entresto includes Sacubitril and Valsartan. | Sacubitril/valsartan (Entresto) for chronic heart failure; brexpiprazole
(Rexulti) for major depressive disorder and schizophrenia; and
lumacaftor/ivacaftor (Orkambi) for cystic fibrosis involving specific CFTR
mutations. ▼ Sacubitril valsartan (Entresto-Novartis) is a new oral drug licensed for the
treatment of... |
Is there a deep-learning algorithm for protein solubility prediction? | Yes. DeepSol is a novel deep learning-based protein solubility predictor. It is a convolutional neural network that exploits k-mer structure and additional sequence and structural features extracted from the protein sequence. | MOTIVATION: Protein solubility plays a vital role in pharmaceutical research and
production yield. For a given protein, the extent of its solubility can
represent the quality of its function, and is ultimately defined by its
sequence. Thus, it is imperative to develop novel, highly accurate in silico
sequence-based... |
Have machine learning methods been used to predict the severity of major depressive disorder(MDD)? | Machine-learning (ML) models developed from self-reports can be used to predict persistence and severity of major depressive disorder(MDD) | Quantitative abnormalities of brain structure in patients with major depressive
disorder have been reported at a group level for decades. However, these
structural differences appear subtle in comparison with conventional
radiologically defined abnormalities, with considerable inter-subject
variability. Consequentl... |
What is known about the gut bacteria and depression. | Evidence indicates that major depression is accompanied by increased translocation of gut commensal Gram-negative bacteria (leaky gut) and consequent activation of oxidative and nitrosative (O&NS) pathways.
Major depressive disorder (MDD) is a highly prevalent and debilitating mental illness, which is associated with ... | The human gut is a composite anaerobic environment with a large, diverse and
dynamic enteric microbiota, represented by more than 100 trillion
microorganisms, including at least 1000 distinct species. The discovery that a
different microbial composition can influence behavior and cognition, and in
turn the nervous ... |
Can midostaurin inhibit angiogenesis? | Yes, midostaurin can inhibit angiogenesis through the inhibition of ithe vascular endothelial growth factor receptor. | |
For which indications has midostaurin received FDA and EMA approval? | Midostaurin was approved by the Food and Drug Administration (FDA) and the European Medical Agency (EMA) for acute myeloid leukemia with activating FLT3 mutations in combination with intensive induction and consolidation therapy as well as aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated he... | Midostaurin (PKC412, Rydapt®) is an oral multiple tyrosine kinase inhibitor.
Main targets are the kinase domain receptor, vascular endothelial-, platelet
derived-, and fibroblast growth factor receptor, stem cell factor receptor
c-KIT, as well as mutated and wild-type FLT3 kinases. Midostaurin was approved
by the F... |
Does Groucho related gene 5 (GRG5) have a role only in late development? | Groucho related gene 5 (GRG5) has been described as a multifunctional protein that has been implicated in late embryonic and postnatal mouse development. By both loss and gain of function approaches ablation of GRG5 has been shown to deregulate the Embryonic Stem Cell (ESC) pluripotent state whereas its overexpression ... | Groucho related gene 5 (GRG5) is a multifunctional protein that has been
implicated in late embryonic and postnatal mouse development. Here, we describe
a previously unknown role of GRG5 in early developmental stages by analyzing its
function in stem cell fate decisions. By both loss and gain of function
approaches... |
Which drugs are included in the Orkambi pill? | Orkambi pill includes lumacaftor combined with ivacaftor. It is approved for treatment of cystic fibrosis with F508del-CFTR mutation. | Sacubitril/valsartan (Entresto) for chronic heart failure; brexpiprazole
(Rexulti) for major depressive disorder and schizophrenia; and
lumacaftor/ivacaftor (Orkambi) for cystic fibrosis involving specific CFTR
mutations. ORKAMBI (ivacaftor-lumacaftor [LUMA]) and KALYDECO (ivacaftor; IVA) are two new
breakthrough c... |
List available R packages for processing NanoString data | NanoStringNorm and NanoStringNormCNV. | SUMMARY: The NanoString System is a well-established technology for measuring
RNA and DNA abundance. Although it can estimate copy number variation,
relatively few tools support analysis of these data. To address this gap, we
created NanoStringNormCNV, an R package for pre-processing and copy number
variant calling... |
Which disease is PGT121 used for? | The broadly neutrilizing antibody PGT121 is being tested against HIV-1. | |
What is the mechanism of action of anlotinib? | Anlotinib is a receptor tyrosine kinase inhibitor targeting vascular endothelial growth factor receptors (VEGFR1, VEGFR2/KDR, and VEGFR3), stem cell factor receptor (C-kit), platelet-derived growth factor (PDGFβ), and fibroblast growth factor receptors (FGFR1, FGFR2, and FGFR3). It is used for treatment of cancer. | BACKGROUND: Anlotinib is a novel multi-target tyrosine kinase inhibitor that is
designed to primarily inhibit VEGFR2/3, FGFR1-4, PDGFR α/β, c-Kit, and Ret. We
aimed to evaluate the safety, pharmacokinetics, and antitumor activity of
anlotinib in patients with advanced refractory solid tumors.
METHODS: Anlotinib (5-1... |
Describe Canvas SPW | Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. Joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples with... | MOTIVATION: Whole genome sequencing is becoming a diagnostics of choice for the
identification of rare inherited and de novo copy number variants in families
with various pediatric and late-onset genetic diseases. However, joint variant
calling in pedigrees is hampered by the complexity of consensus breakpoint
alig... |
List phagosomal markers. | Rab7
LAMP1
Cathepsin D
Rab9
V-ATPase
CD63 | The acid sphingomyelinase (ASMase) localizes to the lumen of endosomes,
phagosomes and lysosomes as well as to the outer leaflet of the plasma membrane
and hydrolyses sphingomyelin to ceramide and phosphorylcholine. Using the
facultative intracellular bacterium Listeria monocytogenes, we show that
maturation of pha... |
List bacterial families for which delafloxacin has been shown to be effective. | Delafloxacin has been shown to be effective against multiple gram-positive and gram-negative bacteria, including Strepotococcus pneumoniae, Haemophilus influenzae, Moraxella atarrhalis, Staphylococcus aureus, Klebsiella pneumoniae and more. | Delafloxacin is a broad-spectrum anionic fluoroquinolone under development for
the treatment of bacterial pneumonia. The goal of the study was to determine the
pharmacokinetic/pharmacodynamic (PK/PD) targets in the murine lung infection
model for Staphylococcus aureus, Streptococcus pneumoniae, and Klebsiella
pneum... |
What is the cause of Sandhoff disease? | Sandhoff disease (SD) is a genetic disorder caused by a mutation of the β-subunit gene β-hexosaminidase B (HexB) in humans, which results in the massive accumulation of the ganglioside GM2 and related glycosphingolipids in the nervous system. | Approximately 70 lysosomal storage diseases are currently known, resulting from
mutations in genes encoding lysosomal enzymes and membrane proteins. Defects in
lysosomal enzymes that hydrolyze sphingolipids have been relatively well
studied. Gaucher disease is caused by the loss of activity of
glucocerebrosidase, l... |
Are there tools for reviewing variant calls? | Yes. Tools such as the Variant InsPector and Expert Rating tool (VIPER) have been developed that speed up the manual inspection of variant calls by integrating the Integrative Genomics Viewer into a web application. Analysts can then quickly iterate through variants, apply filters and make decisions based on the genera... | |
Name one CCR4 targeted drug. | Mogamulizumab is an anti-CCR4 monoclonal antibody. | BACKGROUND: Human T-lymphotropic virus type 1 (HTLV-1) causes the debilitating
neuroinflammatory disease HTLV-1-associated myelopathy-tropical spastic
paraparesis (HAM-TSP) as well as adult T-cell leukemia-lymphoma (ATLL). In
patients with HAM-TSP, HTLV-1 infects mainly CCR4+ T cells and induces
functional changes,... |
What is the mechanism of action of cemiplimab? | Cemiplimab is human programmed death receptor-1 (PD-1) monoclonal antibody that binds to PD-1 and blocks its interaction with programmed death ligands 1 (PD-L1) and 2 (PD-L2). It is approved to treat patients with metastatic or locally advanced cutaneous squamous cell carcinoma who are not candidates for surgery or rad... | Vascular endothelial growth factor (VEGF) has emerged as a therapeutic target in
several maligcies, including cervical cancer. Chemotherapy doublets combined
with the fully humanized monoclonal antibody, bevacizumab, now constitute
first-line therapy for women struggling with recurrent/metastatic cervical
carcinoma... |
Which algorithm has been developed for finding conserved non-coding elements (CNEs) in genomes? | CNEFinder is a tool for identifying CNEs between two given DNA sequences with user-defined criteria. | MOTIVATION: Conserved non-coding elements (CNEs) represent an enigmatic class of
genomic elements which, despite being extremely conserved across evolution, do
not encode for proteins. Their functions are still largely unknown. Thus, there
exists a need to systematically investigate their roles in genomes. Towards t... |
What causes Bathing suit Ichthyosis(BSI)? | Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. | Bathing suit ichthyosis (BSI) is a striking and unique clinical form of
autosomal recessive congenital ichthyosis characterized by pronounced scaling on
the bathing suit areas but sparing of the extremities and the central face. Here
we report on a series of 10 BSI patients. Our genetic, ultrastructural and
biochem... |
What type of data does the UK biobank resource contain? | The UK Biobank contains deep phenotyping and genomic data. A rich variety of phenotypic and health-related information is available on each participant, including biological measurements, lifestyle indicators, biomarkers in blood and urine, and imaging of the body and brain. Follow-up information is provided by linking... | Author information:
(1)Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
(2)Procter & Gamble, Brussels, Belgium.
(3)Department of Statistics, University of Oxford, Oxford, UK.
(4)Melbourne Integrative Genomics and the Schools of Mathematics and Statistics,
and BioSciences, The University of Melbour... |
Has ivosidenib been FDA approved for use against acute myeloid leukemia? | The FDA approved ivosidenib for patients with IDH1-mutant relapsed/refractory acute myeloid leukemia. | The FDA approved ivosidenib for patients with IDH1-mutant relapsed/refractory
acute myeloid leukemia. The approval was based on results of a phase I trial in
which 32.8% of patients treated with the drug had a complete remission or a
complete remission with a partial hematologic recovery. |
Which two surgical methods were compared in the RAZOR trial? | The RAZOR trial compared open radical cystectomy vs. robot-assisted radical cystectomy in patients with bladder cancer. | The purpose of the RAZOR (randomized open vs robotic cystectomy) study is to
compare open radical cystectomy (ORC) vs robot-assisted RC (RARC), pelvic lymph
node dissection (PLND) and urinary diversion for oncological outcomes,
complications and health-related quality of life (HRQL) measures with a primary
endpoint... |
Are Copy Number Variants (CNVs) depleted in regions of low mappability? | No. Low-mappability regions are approximately 5 times more likely to harbor germline CNVs, in stark contrast to the nearly uniform distribution observed for somatic CNVs in 95 cancer genomes. | |
List potential reasons regarding why potentially important genes are ignored | Differences in attention can be explained, to a large extent, exclusively from a small set of identifiable chemical, physical, and biological properties of genes. Together with knowledge about homologous genes from model organisms, these features accurately predict the number of publications on individual human genes, ... | Biomedical research has been previously reported to primarily focus on a
minority of all known genes. Here, we demonstrate that these differences in
attention can be explained, to a large extent, exclusively from a small set of
identifiable chemical, physical, and biological properties of genes. Together
with knowl... |
Which random forest method has been developed for detecting Copy Numbers Variants (CNVs)? | CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing. | Simultaneous detection of small copy number variations (CNVs) (<0.5 kb) and
single-nucleotide variants in clinically significant genes is of great interest
for clinical laboratories. The analytical variability in next-generation
sequencing (NGS) and artifacts in coverage data because of issues with
mappability alon... |
What is the indication for Truvada? | Truvada is used for HIV pre-exposure prophylaxis (PrEP) in high risk individuals | Chronic hepatitis B affects 5-10% of HIV patients in Western countries.
Lamivudine should no longer be used as a single anti-HBV agent in HIV-HBV
co-infected patients, given its limited antiviral potency and high risk of
selection of resistance, which further results in wide cross-resistance to all
other nucleoside... |
Is Adar3 involved in learning and memory? | Yes. Adar3 is involved in learning and memory in mice. Mice lacking exon 3 of Adar3 (which encodes two double stranded RNA binding domains) have increased levels of anxiety and deficits in hippocampus-dependent short- and long-term memory formation. RNA sequencing revealed a dysregulation of genes involved in synaptic ... | |
List STING agonists. | CDN 3'3'-cGAMP
dimethylxanthenone-4-acetic acid
α-Mangostin | Author information:
(1)Biomedical Engineering, Johns Hopkins University School of Medicine,
Baltimore, MD, USA; Translational Tissue Engineering Center, Johns Hopkins
University School of Medicine, Baltimore, MD, USA; Institute for
Nanobiotechnology, Johns Hopkins University School of Medicine, Baltimore, MD,
USA.
... |
List drugs that were tested in the CheckMate 214 trial. | CheckMate 214 clinical trial compared Nivolumab plus Ipilimumab versus Sunitinib in Advanced Renal-Cell Carcinoma. | BACKGROUND: Nivolumab plus ipilimumab produced objective responses in patients
with advanced renal-cell carcinoma in a pilot study. This phase 3 trial compared
nivolumab plus ipilimumab with sunitinib for previously untreated clear-cell
advanced renal-cell carcinoma.
METHODS: We randomly assigned adults in a 1:1 rat... |
Mutations in which gene have been found in patients with the CLAPO syndrome? | CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. In a cohort of 13 patients with CLAPO, five activating mutations have been identified in the PIK3CA gene in affecte... | Author information:
(1)Vascular Malformations Section, Institute of Medical and Molecular Genetics,
INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
(2)Bioinformatics Section, Institute of Medical and Molecular Genetics,
INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
(3)CIBERER, Centro de In... |
What is CamurWeb? | CamurWeb is a classification software and a large knowledge base for gene expression data of cancer. It is a web-based software that is able to extract multiple and equivalent classification models in form of logic formulas ("if then" rules) and to create a knowledge base of these rules that can be queried and analyzed... | BACKGROUND: The high growth of Next Generation Sequencing data currently demands
new knowledge extraction methods. In particular, the RNA sequencing gene
expression experimental technique stands out for case-control studies on cancer,
which can be addressed with supervised machine learning techniques able to
extrac... |
Describe SLIC-CAGE | SLIC-CAGE is a Super-Low Input Carrier-CAGE approach to capture 5' ends of RNA polymerase II transcripts from as little as 5-10 ng of total RNA. This dramatic increase in sensitivity is achieved by specially designed, selectively degradable carrier RNA. SLIC-CAGE can generate data for genome-wide promoterome with 1000-... | |
There is no drug available to prevent HIV infection, Pre-exposure prophylaxis (PrEP), yes or no? | Pre-exposure prophylaxis (PrEP) with the drug combination Truvada can substantially decrease HIV transmission in individuals at risk. | Pre-exposure prophylaxis (PrEP) is an experimental approach to HIV prevention
and consists of antiretroviral drugs to be taken before potential HIV exposure
in order to reduce the risk of HIV infection and continued during periods of
risk. An effective PrEP could provide an additional safety net to sexually
active ... |
Burosumab is used for treatment of which disease? | Burosumab is a fully human IgG1 monoclonal antibody directed at fibroblast growth factor 23 (FGF23), is indicated for the treatment of X-linked hypophosphatemia (XLH), a condition associated with excessive FGF23 production. | Phosphate plays essential roles in many biological processes, and the serum
phosphate level is tightly controlled. Chronic hypophosphatemia causes impaired
mineralization of the bone matrix and results in rickets and osteomalacia.
Fibroblast growth factor 23 (FGF23) is a bone-derived hormone that regulates
phosphat... |
What is the most common monogenic cause of common variable immunodeficiency (CVID) in Europeans? | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. | Author information:
(1)Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall
d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and
Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia,
Spain; Jeffrey Model Foundation Excellence Center, Barcelona, Catalon... |
List two indications of Letermovir? | Letermovir is approved for the prophylaxis of CMV infection and disease in adult CMV-seropositive recipients of an allogeneic haematopoietic stem cell transplant (HSCT). | Letermovir is being developed for human cytomegalovirus infection treatment and
prophylaxis. In patients receiving transplants, antivirals are coadministered
with cyclosporine A (CsA) or tacrolimus (TAC) immunosuppressants. Therefore, we
investigated the potential for letermovir-immunosuppressant interactions. In 2 ... |
What is achalasia? | Achalasia is a primary esophageal motility disorder characterized by aperistalsis of the esophagus and failed relaxation of the lower esophageal sphincter that presents rarely in childhood. | Achalasia is a motility disorder of the esophagus characterized by total loss of
esophageal peristalsis and by defective lower esophageal sphincter function. The
etiology of achalasia is poorly understood. Achalasia occurs across the
lifespan, but is uncommon in children. Most patients have progressive dysphagia
fo... |
Does allele phasing improve the phylogenetic utility of ultraconserved elements? | Yes. Allele phasing greatly improves the phylogenetic utility of ultraconserved elements. Analyzing allele sequences leads to more accurate estimates of tree topology and divergence times than the more common approach of using contig sequences. | Advances in high-throughput sequencing techniques now allow relatively easy and
affordable sequencing of large portions of the genome, even for nonmodel
organisms. Many phylogenetic studies reduce costs by focusing their sequencing
efforts on a selected set of targeted loci, commonly enriched using sequence
capture... |
What is Burning Mouth Syndrome(BMS)? | Burning Mouth Syndrome (BMS), a chronic intraoral burning sensation or dysesthesia without clinically evident causes, is one of the most common medically unexplained oral symptoms/syndromes. It predominately affects middle-aged women in the postmenopausal period. The condition is distinguished by burning symptoms of th... | The burning mouth syndrome is characterized by an unpleasant sensation of
burning in the oral cavity, without clinical signs. Causal factors may be
psychogenic, systemic or local. The aim of the study was to determine the
significance of contact allergy in the pathogenesis of burning mouth syndrome.
Fifteen patient... |
When is serum AFP used as marker? | Serum α-Fetoprotein (AFP) is a widely used diagnostic biomarker, but it has limited sensitivity and is not elevated in all Hepato cellular carcinoma (HCC) cases so, we incorporate a second blood-based biomarker, des'γ carboxy-prothrombin (DCP), that has shown potential as a screening marker for HCC. | BACKGROUND AND AIM: Extremely poor prognosis in hepatocellular carcinoma (HCC)
patients with progressing disease was denoted by vascular invasion. Cytokeratin
18 (CK18) has been shown to be overexpressed in hepatocellular carcinoma so it
is a valuable tumor marker; however, its role in vascular invasion is still
un... |
Have yeast prions become important models for the study of the basic mechanisms underlying human amyloid diseases? | infectious proteins) were discovered by their outré genetic properties and have become important models for an array of human prion and amyloid diseases. | More than 20 human diseases are related to protein misfolding which causes
formation of amyloids, fibrillar aggregates of normally soluble proteins. Such
diseases are called amyloid diseases or amyloidoses. Of them only prion diseases
are transmissible. Amyloids of the prion type are described in lower eukaryotes.
... |
RV3-BB vaccine is used for prevention of which viral infection? | The RV3-BB human neonatal rotavirus vaccine aims to provide protection from severe rotavirus disease from birth. | INTRODUCTION: RV3 is a human neonatal rotavirus strain (G3P[6]) that has been
associated with asymptomatic neonatal infection and replicates well in the
infant gut. RV3-BB rotavirus vaccine has been developed as a rotavirus vaccine
candidate for administration at birth.
METHODS: A single-centre, double-blind, random... |
Is dupilumab effective for treatment of asthma? | Yes, dupilumab is effective for treatment of asthma. It works by simultaneous targeting of both IL-4 and IL-13 by blocking IL-4 receptor α. | Simultaneously with the steady progress towards a better knowledge of the
pathobiology of asthma, the potential usefulness of anticytokine therapies is
emerging as one of the key concepts in the newly developing treatments of this
widespread airway disease. In particular, given the key role played by
interleukin (I... |
What is the role of the Mcm2-Ctf4-Polα axis? | The Mcm2-Ctf4-Polα axis facilitates parental histone H3-H4 transfer to lagging strands. | |
What is anophthalmia? | Microphthalmia, anophthalmia are the malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball. | BACKGROUND: Developmental eye anomalies, which include anophthalmia (absent eye)
or microphthalmia (small eye) are an important cause of severe visual impairment
in infants and young children. Heterozygous mutations in SOX2, a SOX1B-HMG box
transcription factor, have been found in up to 10% of individuals with sever... |
What are the roles of LEM-3? | LEM-3 is a midbody-tethered DNA nuclease that resolves chromatin bridges during late mitosis. The conserved LEM-3/Ankle1 nuclease is involved in the combinatorial regulation of meiotic recombination repair and chromosome segregation in Caenorhabditis elegans. LEM-3 is able to process erroneous recombination intermediat... | |
What is the contribution of ultraconserved elements in Australasian smurf-weevils? | Ultraconserved elements (UCEs) resolve the phylogeny of Australasian smurf-weevils. | Weevils (Curculionoidea) comprise one of the most diverse groups of organisms on
earth. There is hardly a vascular plant or plant part without its own species of
weevil feeding on it and weevil species diversity is greater than the number of
fishes, birds, reptiles, amphibians and mammals combined. Here, we employ
... |
How does botulism toxin act on the muscle? | . The seven immunologically distinct serotypes of BoNTs (A-G), each produced by various strains of Clostridium botulinum, act on the neuromuscular junction by blocking the release of the neurotransmitter acetylcholine, thereby resulting in flaccid muscle paralysis. | The neurotoxins produced by Clostridium botulinum are the most potent acute
toxins known and are the causative agents of the neuroparalytic disease
botulism. The toxins act primarily at peripheral cholinergic synapses by
blocking the evoked release of the neurotransmitter acetylcholine. There are
seven distinct ser... |
What is the most common pediatric glioma? | Pilocytic astrocytoma is the most common pediatric glioma. | Gliomas are the most common maligt primary brain tumors, of which
glioblastoma is the most maligt form (WHO grade IV), and notorious for
treatment resistance. Over the last decade mutations in epigenetic regulator
genes have been identified as key drivers of subtypes of gliomas with distinct
clinical features. Most... |
What is the function of the protein encoded by the gene STING? | Stimulator of interferon genes (STING) is an adaptor protein that plays an important role in the activation of type I interferons in response to cytosolic nucleic acid ligands. Recent evidence indicates involvement of the STING pathway in the induction of antitumor immune response. | Stimulator of interferon genes (STING) is an adaptor protein that plays an
important role in the activation of type I interferons in response to cytosolic
nucleic acid ligands. Recent evidence indicates involvement of the STING pathway
in the induction of antitumor immune response. Therefore, STING agonists are now ... |
List uniparental disomy (UPD) detection algorithms | UPDtool and AsCNAR are tools for detecting uniparental disomy (UPD). UPDtool is a computational tool for detection and classification of uniparental disomy (UPD) in trio SNP-microarray experiments. AsCNAR (allele-specific copy-number analysis using anonymous references) detects the copy-number neutral LOH, or uniparent... | Loss of heterozygosity (LOH), either with or without accompanying copy-number
loss, is a cardinal feature of cancer genomes that is tightly linked to cancer
development. However, detection of LOH is frequently hampered by the presence of
normal cell components within tumor specimens and the limitation in availabilit... |
Describe the mechanism of action of apalutamide. | Apalutamide is a second-generation antiandrogen that inhibits the binding of androgen to androgen receptor (AR), nuclear translocation of the androgen-AR complex, and binding of AR transcription complex to DNA-binding sites and transcription elements. It does not show antagonist-to-agonist switch like bicalutamide. It ... | Conflict of interest statement: Ficial disclosures: Matthew R. Smith
certifies that all conflicts of interest, including specific ficial interests
and relationships and affiliations relevant to the subject matter or materials
discussed in the manuscript (eg, employment/affiliation, grants or funding,
consultancies,... |
Which molecule is inhibited by larotrectinib? | Larotrectinib is oral, potent, and selective inhibitor of tropomyosin receptor kinases (TRK). It demonstrated unprecedented efficacy on unresectable or metastatic solid tumors with neurotrophic tropomyosin receptor kinase (NTRK)-fusion proteins in adult and pediatric patients. | Larotrectinib, a selective TRK tyrosine kinase inhibitor (TKI), has demonstrated
histology-agnostic efficacy in patients with TRK fusion-positive cancers.
Although responses to TRK inhibition can be dramatic and durable, duration of
response may eventually be limited by acquired resistance. LOXO-195 is a
selective ... |
What is Bayesian haplotyping used for? | Bayesian haplotype inference is used for phylogenetic analysis, specifcially multiple linked single-nucleotide polymorphisms and analysis of chromosome copy number and deletions. | BACKGROUND: Australian scorpions have received far less attention from
researchers than their overseas counterparts. Here we provide the first insight
into the molecular variation and evolutionary history of the endemic Australian
scorpion Urodacus yaschenkoi. Also known as the inland robust scorpion, it is
widely ... |
List major features of TEMPI Syndrome. | TEMPI syndrome includes telangiectasias, erythrocytosis with elevated erythropoietin, monoclonal gammopathy, perinephric fluid collections, intrapulmonary shunting. It is a newly described clinical entity that is generally considered a plasma cell dyscrasia with multiple system involvement. | TEMPI syndrome (telangiectasias, elevated erythropoietin level and
erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and
intrapulmonary shunting) is a recently described syndrome that, owing to
erythrocytosis, may be confused with polycythemia vera. It is best classified as
a type of plasma cell... |
Describe Herpetic Whitlow. | Herpetic whitlow is an acute viral infection of the hand caused by either herpes simplex virus (HSV) 1 or 2. Its characteristic findings are significant pain and erythema with overlying nonpurulent vesicles. It can be confirmed by polymerase chain reaction testing. | Herpetic whitlow is a herpes simplex virus infection of the finger. It may be
caused by either herpes simplex type 1 or 2. It is characterized by pain,
erythema, and nonpurulent vesicle or bullae formation. It may be due to a
primary or recurrent infection. It is a common infection in health care
professionals who ... |
Sweat Chloride Testing is used for which disease? | Sweat Chloride Testing is used to diagnose cystic fibrosis. CFTR dysfunction can be demonstrated using sweat chloride testing. | In cystic fibrosis (CF), sweat chloride concentration has been proposed as an
index of CFTR function for testing systemic drugs designed to activate mutant
CFTR. This suggestion arises from the assumption that greater residual CFTR
function should lead to a lower sweat chloride concentration, as well as
protection ... |
What is nyctinasty in plants? | Nyctinasty is the circadian rhythmic nastic movement of leguminous plants in response to the onset of darkness; a unique and intriguing phenomenon that has attracted attention for centuries. | The chemical aspects of the circadian leaf movement known as "nyctinasty" are
discussed in this paper. Each of the nyctinastic plants of five different genera
so far examined contained a pair of factors, one of which induced leaf closure
and another induced leaf opening. The relative contents of the closing and
ope... |
Does Eucommia ulmoides leaf extract ameliorates steatosis/fatty liver induced by high-fat diet? | Yes, Eucommia ulmoides leaf extract can ameliorate steatosis induced by high-fat diet. | This study examined the effect of a Du-zhong (Eucommia ulmoides Oliver) leaf
extract (0.175 g/100 g diet) that was supplemented with a high-fat diet (10%
coconut oil, 0.2% cholesterol, wt/wt) on hyperlipidemic hamsters. Hamsters fed
with Du-zhong leaf extract for 10 weeks showed a smaller size of epididymal
adipocy... |
List the releases of tmVar | TmVar is a text mining approach for extracting sequence variants in biomedical literature. TmVar 2.0 integrates genomic variant information from literature with dbSNP and ClinVar for precision medicine. | MOTIVATION: Despite significant efforts in expert curation, clinical relevance
about most of the 154 million dbSNP reference variants (RS) remains unknown.
However, a wealth of knowledge about the variant biological function/disease
impact is buried in unstructured literature data. Previous studies have
attempted t... |
Which deep learning algorithm has been developed for variant calling? | A deep convolutional neural network can call genetic variation in aligned next-generation sequencing read data by learning statistical relationships between images of read pileups around putative variant and true genotype calls. The approach, called DeepVariant, outperforms existing state-of-the-art tools. The learned ... | |
What 2 biological processes are regulated by STAMP2 in adipocytes? | Inflammation, insulin resistance and metabolic response are regulated by STAMP2 in adipocytes. | Metabolic and inflammatory pathways crosstalk at many levels, and, while
required for homeostasis, interaction between these pathways can also lead to
metabolic dysregulation under conditions of chronic stress. Thus, we
hypothesized that mechanisms might exist to prevent overt inflammatory responses
during physiolo... |
What is the mechanism of action of Pitolisant? | Pitolisant is an antagonist/inverse agonist of the human histamine H3 receptor thus increasing histaminergic tone in the wake promoting system of the brain. It is used for the treatment of narcolepsy. | OBJECTIVE: Narcolepsy is a rare disabling sleep disorder characterized by
excessive daytime sleepiness and cataplexy (sudden loss of muscle tone). Drugs
such as pitolisant, which block histamine H3 autoreceptors, constitute a newly
identified class of stimulants because they increase brain histamine and enhance
wak... |
Which methods have been developed for extracting sequence variants from the literature? | TmVar and nala | MOTIVATION: The extraction of sequence variants from the literature remains an
important task. Existing methods primarily target standard (ST) mutation
mentions (e.g. 'E6V'), leaving relevant mentions natural language (NL) largely
untapped (e.g. 'glutamic acid was substituted by valine at residue 6').
RESULTS: We in... |
Which molecules are targeted by defactinib? | PURPOSE: VS-6063 (also known as defactinib or PF-04554878) is a second-generation inhibitor of focal adhesion kinase and proline-rich tyrosine kinase-2. | Resistance to currently available targeted therapies significantly hampers the
survival of patients with prostate cancer with bone metastasis. Here we
demonstrate an important resistance mechanism initiated from tumor-induced bone.
Studies using an osteogenic patient-derived xenograft, MDA-PCa-118b, revealed
that t... |
What is Chrysophanol? | Chrysophanol is an anthraquinone compound, which exhibits anticancer effects on certain types of cancer cells | Chrysophanol is an anthraquinone compound, mainly isolated from rhubarb, with
anti-cancer effects on some types of cancer cells. However, effects of
chrysophanol on human choriocarcinoma cells are not known. Therefore, the
objective of this study was to determine effects of chrysophanol on
choriocarcinoma cells (JA... |
What is the percentage of individuals at risk of dominant medically actionable disease? | 1 in 38 individuals at risk of a dominant medically actionable disease. | Clinical genomic sequencing can identify pathogenic variants unrelated to the
initial clinical question, but of medical relevance to the patients and their
families. With ongoing discussions on the utility of disclosing or searching for
such variants, it is of crucial importance to obtain unbiased insight in the
pr... |
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