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http://www.ncbi.nlm.nih.gov/pubmed/27758698,http://www.ncbi.nlm.nih.gov/pubmed/30385269,http://www.ncbi.nlm.nih.gov/pubmed/27377536,http://www.ncbi.nlm.nih.gov/pubmed/27996890
Which human disease is experimental autoimmune encephalomyelitis (EAE) model for?
Experimental autoimmune encephalomyelitis (EAE) is an animal model of MS (Multiple Sclerosis).
http://www.ncbi.nlm.nih.gov/pubmed/29416314,http://www.ncbi.nlm.nih.gov/pubmed/29421779,http://www.ncbi.nlm.nih.gov/pubmed/29467429
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.
http://www.ncbi.nlm.nih.gov/pubmed/23453347,http://www.ncbi.nlm.nih.gov/pubmed/26892289,http://www.ncbi.nlm.nih.gov/pubmed/22091594,http://www.ncbi.nlm.nih.gov/pubmed/21936930,http://www.ncbi.nlm.nih.gov/pubmed/29399045,http://www.ncbi.nlm.nih.gov/pubmed/22378918,http://www.ncbi.nlm.nih.gov/pubmed/29400298,http://www.ncbi.nlm.nih.gov/pubmed/18367867,http://www.ncbi.nlm.nih.gov/pubmed/18250315,http://www.ncbi.nlm.nih.gov/pubmed/20702794,http://www.ncbi.nlm.nih.gov/pubmed/23582371,http://www.ncbi.nlm.nih.gov/pubmed/28978660,http://www.ncbi.nlm.nih.gov/pubmed/20363190
Is lithium effective for treatment of amyotrophic lateral sclerosis?
No, lithium is not effective for treatment of amyotrophic lateral sclerosis.
http://www.ncbi.nlm.nih.gov/pubmed/28575464,http://www.ncbi.nlm.nih.gov/pubmed/30247945
Should dacomitinib be used for treatment of glioblastoma patients?
No, dacomitinib has a limited single-agent activity in recurrent glioblastoma with EGFR amplification.
http://www.ncbi.nlm.nih.gov/pubmed/29500635
Which molecular does daratumumab target?
Daratumumab is an anti-CD38 antibody.
http://www.ncbi.nlm.nih.gov/pubmed/26238440,http://www.ncbi.nlm.nih.gov/pubmed/24667717,http://www.ncbi.nlm.nih.gov/pubmed/25457975,http://www.ncbi.nlm.nih.gov/pubmed/27084348,http://www.ncbi.nlm.nih.gov/pubmed/24742319,http://www.ncbi.nlm.nih.gov/pubmed/24127448
What is etarfolatide used for?
Etarfolatide in the form of 99mTc-etarfolatide is used as a companion imaging agent
http://www.ncbi.nlm.nih.gov/pubmed/29454747,http://www.ncbi.nlm.nih.gov/pubmed/29967603,http://www.ncbi.nlm.nih.gov/pubmed/29228113
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.
http://www.ncbi.nlm.nih.gov/pubmed/29258079,http://www.ncbi.nlm.nih.gov/pubmed/29416316,http://www.ncbi.nlm.nih.gov/pubmed/29545095,http://www.ncbi.nlm.nih.gov/pubmed/28960263,http://www.ncbi.nlm.nih.gov/pubmed/28831813,http://www.ncbi.nlm.nih.gov/pubmed/30013326,http://www.ncbi.nlm.nih.gov/pubmed/30489337,http://www.ncbi.nlm.nih.gov/pubmed/28885881,http://www.ncbi.nlm.nih.gov/pubmed/28471727,http://www.ncbi.nlm.nih.gov/pubmed/29517083,http://www.ncbi.nlm.nih.gov/pubmed/27265743,http://www.ncbi.nlm.nih.gov/pubmed/29069302,http://www.ncbi.nlm.nih.gov/pubmed/28705024,http://www.ncbi.nlm.nih.gov/pubmed/28643244,http://www.ncbi.nlm.nih.gov/pubmed/28403786,http://www.ncbi.nlm.nih.gov/pubmed/29958099,http://www.ncbi.nlm.nih.gov/pubmed/30383184,http://www.ncbi.nlm.nih.gov/pubmed/29773326,http://www.ncbi.nlm.nih.gov/pubmed/26858122,http://www.ncbi.nlm.nih.gov/pubmed/29140105,http://www.ncbi.nlm.nih.gov/pubmed/28717238,http://www.ncbi.nlm.nih.gov/pubmed/30514390,http://www.ncbi.nlm.nih.gov/pubmed/29486607
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.
http://www.ncbi.nlm.nih.gov/pubmed/29554207
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 and software-engineering improvements. One strategy is to modify the read-alignment algorithms by integrating the logic related to BS-seq alignment, with the goal of making the software implementation amenable to optimizations that lead to higher speed and greater sensitivity than might otherwise be attainable. This strategy was evaluated using Arioc, a short-read aligner that uses GPU (general-purpose graphics processing unit) hardware to accelerate computationally-expensive programming logic.
http://www.ncbi.nlm.nih.gov/pubmed/29172076
Which disease is gemtuzumab ozogamicin used for?
Gemtuzumab ozogamicin is used for the treatment of acute myeloid leukemia
http://www.ncbi.nlm.nih.gov/pubmed/24233775,http://www.ncbi.nlm.nih.gov/pubmed/26834590,http://www.ncbi.nlm.nih.gov/pubmed/26092690,http://www.ncbi.nlm.nih.gov/pubmed/22080549,http://www.ncbi.nlm.nih.gov/pubmed/24731198,http://www.ncbi.nlm.nih.gov/pubmed/27933523,http://www.ncbi.nlm.nih.gov/pubmed/25374613,http://www.ncbi.nlm.nih.gov/pubmed/26656951,http://www.ncbi.nlm.nih.gov/pubmed/23195309,http://www.ncbi.nlm.nih.gov/pubmed/24923803
What is GeneWeaver used for?
GeneWeaver: a web-based system for integrative functional genomics.GeneWeaver is a freely available resource for storing, curating and analyzing sets of genes from heterogeneous data sources. GeneWeaver enables researchers to store, share, analyze, and compare results of their own genome-wide functional genomics experiments in an environment containing rich companion data obtained from major curated repositories, including the Mouse Genome Database and other model organism databases, along with derived data from highly specialized resources, publications, and user submissions.GeneWeaver: a web-based system for integrative functional genomics. The freely available GeneWeaver (http://www.GeneWeaver.org) powered by the Ontological Discovery Environment is a curated repository of genomic experimental results with an accompanying tool set for dynamic integration of these data sets, enabling users to interactively address questions about sets of biological functions and their relations to sets of genes. The GeneWeaver.org system provides a platform for cross-species integration and interrogation of heterogeneous curated and experimentally derived functional genomics data.
http://www.ncbi.nlm.nih.gov/pubmed/29028909
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.
http://www.ncbi.nlm.nih.gov/pubmed/28444090,http://www.ncbi.nlm.nih.gov/pubmed/20659815,http://www.ncbi.nlm.nih.gov/pubmed/20928911,http://www.ncbi.nlm.nih.gov/pubmed/27212114,http://www.ncbi.nlm.nih.gov/pubmed/25843898,http://www.ncbi.nlm.nih.gov/pubmed/24575803,http://www.ncbi.nlm.nih.gov/pubmed/21940619,http://www.ncbi.nlm.nih.gov/pubmed/25597926,http://www.ncbi.nlm.nih.gov/pubmed/28249004,http://www.ncbi.nlm.nih.gov/pubmed/28631957,http://www.ncbi.nlm.nih.gov/pubmed/24239347,http://www.ncbi.nlm.nih.gov/pubmed/22892641,http://www.ncbi.nlm.nih.gov/pubmed/21215419,http://www.ncbi.nlm.nih.gov/pubmed/29742797,http://www.ncbi.nlm.nih.gov/pubmed/21764635,http://www.ncbi.nlm.nih.gov/pubmed/22277500,http://www.ncbi.nlm.nih.gov/pubmed/22246871,http://www.ncbi.nlm.nih.gov/pubmed/26821620,http://www.ncbi.nlm.nih.gov/pubmed/20536375,http://www.ncbi.nlm.nih.gov/pubmed/28457490,http://www.ncbi.nlm.nih.gov/pubmed/27117334,http://www.ncbi.nlm.nih.gov/pubmed/23261262,http://www.ncbi.nlm.nih.gov/pubmed/24698287,http://www.ncbi.nlm.nih.gov/pubmed/21437935,http://www.ncbi.nlm.nih.gov/pubmed/23407618,http://www.ncbi.nlm.nih.gov/pubmed/27440148
Which disease can be classified with the Awaji Criteria?
Awaji Criteria are used for amyotrophic lateral sclerosis.
http://www.ncbi.nlm.nih.gov/pubmed/27999985,http://www.ncbi.nlm.nih.gov/pubmed/27564645,http://www.ncbi.nlm.nih.gov/pubmed/30503567,http://www.ncbi.nlm.nih.gov/pubmed/27942898
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) and balance problems.
http://www.ncbi.nlm.nih.gov/pubmed/29476018
Where does gemtuzumab ozogamicin bind?
Gemtuzumab ozogamicin binds to CD33
http://www.ncbi.nlm.nih.gov/pubmed/28302434,http://www.ncbi.nlm.nih.gov/pubmed/26103154,http://www.ncbi.nlm.nih.gov/pubmed/27705270
Where, in what US state, was there a measles outbreak in an Amish community
The measles outbreak started an Amish community in Ohio
http://www.ncbi.nlm.nih.gov/pubmed/28003334
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.
http://www.ncbi.nlm.nih.gov/pubmed/27522479,http://www.ncbi.nlm.nih.gov/pubmed/25892735
List MHC-I-associated inflammatory disorders.
ankylosing spondylitis birdshot chorioretinopathy Behçet's disease psoriasis
http://www.ncbi.nlm.nih.gov/pubmed/29088312
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.
http://www.ncbi.nlm.nih.gov/pubmed/27161642
What type of topoisomerase inhibitor is gepotidacin?
Gepotidacin is a type IIA topoisomerase inhibitor.
http://www.ncbi.nlm.nih.gov/pubmed/27126994,http://www.ncbi.nlm.nih.gov/pubmed/26793003,http://www.ncbi.nlm.nih.gov/pubmed/30167089,http://www.ncbi.nlm.nih.gov/pubmed/29401002,http://www.ncbi.nlm.nih.gov/pubmed/29850984,http://www.ncbi.nlm.nih.gov/pubmed/28852212,http://www.ncbi.nlm.nih.gov/pubmed/29453241,http://www.ncbi.nlm.nih.gov/pubmed/29563327,http://www.ncbi.nlm.nih.gov/pubmed/29284706,http://www.ncbi.nlm.nih.gov/pubmed/28363909,http://www.ncbi.nlm.nih.gov/pubmed/29789630
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.
http://www.ncbi.nlm.nih.gov/pubmed/28749203,http://www.ncbi.nlm.nih.gov/pubmed/28937686,http://www.ncbi.nlm.nih.gov/pubmed/28984872,http://www.ncbi.nlm.nih.gov/pubmed/29242642
What is the normal function p53?
Wild-type p53 can suppress tumour development by multiple pathways.
http://www.ncbi.nlm.nih.gov/pubmed/25808831
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 Helicobacter pylori infections, while it has already received approval for the treatment of acute otitis externa.
http://www.ncbi.nlm.nih.gov/pubmed/26523632
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. Moreover, it can modify the pharmacokinetic profile of the PEGylated protein by delaying renal excretion, leading to a longer half-life (t1/2) of the drug. By steric hindrance, it can also inhibit interactions between the protein drug and proteases as well as the host immune system, thereby inhibiting inactivation of the PEGylated protein and also attenuating its immunogenicity.
http://www.ncbi.nlm.nih.gov/pubmed/25606299,http://www.ncbi.nlm.nih.gov/pubmed/29111842,http://www.ncbi.nlm.nih.gov/pubmed/28782513,http://www.ncbi.nlm.nih.gov/pubmed/20542136,http://www.ncbi.nlm.nih.gov/pubmed/29396390,http://www.ncbi.nlm.nih.gov/pubmed/25570836,http://www.ncbi.nlm.nih.gov/pubmed/28677229
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.
http://www.ncbi.nlm.nih.gov/pubmed/30360730
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.
http://www.ncbi.nlm.nih.gov/pubmed/29283101,http://www.ncbi.nlm.nih.gov/pubmed/28304075,http://www.ncbi.nlm.nih.gov/pubmed/28760332,http://www.ncbi.nlm.nih.gov/pubmed/12486835,http://www.ncbi.nlm.nih.gov/pubmed/21319945
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.
http://www.ncbi.nlm.nih.gov/pubmed/28929412,http://www.ncbi.nlm.nih.gov/pubmed/29089721
Which two drugs are included in the MAVYRET pill?
MAVYRET pill includes glecaprevir and pibrentasvir. It is used for treatment of hepatitis C infection.
http://www.ncbi.nlm.nih.gov/pubmed/29374165
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 conventional through-bond connectivities to establish assignments of sidechain and backbone resonances at high levels of completeness and with a minimum error rate. The 4D-CHAINS assignments are then used to guide automated assignment of long-range NOEs and structure refinement in autoNOE-Rosetta.
http://www.ncbi.nlm.nih.gov/pubmed/30510992,http://www.ncbi.nlm.nih.gov/pubmed/30324441,http://www.ncbi.nlm.nih.gov/pubmed/29174804
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, tumor organoids are also used to study the fundamental issues of tumorigenesis and metastasis. They are specifically applied for drug testing and stored as "living biobanks."
http://www.ncbi.nlm.nih.gov/pubmed/29202274
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.
http://www.ncbi.nlm.nih.gov/pubmed/19886822,http://www.ncbi.nlm.nih.gov/pubmed/27102896
Are Mesenchymal stem cells (MSC) multipotent cells?
Yes, Mesenchymal stem cells (MSC) are multipotent cells.
http://www.ncbi.nlm.nih.gov/pubmed/30084228,http://www.ncbi.nlm.nih.gov/pubmed/27697814,http://www.ncbi.nlm.nih.gov/pubmed/28944989,http://www.ncbi.nlm.nih.gov/pubmed/28676030,http://www.ncbi.nlm.nih.gov/pubmed/26976916,http://www.ncbi.nlm.nih.gov/pubmed/27284124,http://www.ncbi.nlm.nih.gov/pubmed/26975167,http://www.ncbi.nlm.nih.gov/pubmed/29532764,http://www.ncbi.nlm.nih.gov/pubmed/29375230,http://www.ncbi.nlm.nih.gov/pubmed/30276760,http://www.ncbi.nlm.nih.gov/pubmed/29469206,http://www.ncbi.nlm.nih.gov/pubmed/26417173,http://www.ncbi.nlm.nih.gov/pubmed/29352367,http://www.ncbi.nlm.nih.gov/pubmed/28824789,http://www.ncbi.nlm.nih.gov/pubmed/26466333,http://www.ncbi.nlm.nih.gov/pubmed/28883863,http://www.ncbi.nlm.nih.gov/pubmed/29398176,http://www.ncbi.nlm.nih.gov/pubmed/27804100
Which two drugs are included in the Entresto pill?
Entresto includes Sacubitril and Valsartan.
http://www.ncbi.nlm.nih.gov/pubmed/29554211
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.
http://www.ncbi.nlm.nih.gov/pubmed/26821982,http://www.ncbi.nlm.nih.gov/pubmed/29879133,http://www.ncbi.nlm.nih.gov/pubmed/25066141,http://www.ncbi.nlm.nih.gov/pubmed/30286415,http://www.ncbi.nlm.nih.gov/pubmed/27551669,http://www.ncbi.nlm.nih.gov/pubmed/28702811,http://www.ncbi.nlm.nih.gov/pubmed/26728563,http://www.ncbi.nlm.nih.gov/pubmed/22544901,http://www.ncbi.nlm.nih.gov/pubmed/29682732
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)
http://www.ncbi.nlm.nih.gov/pubmed/28215162,http://www.ncbi.nlm.nih.gov/pubmed/29432299,http://www.ncbi.nlm.nih.gov/pubmed/28455694,http://www.ncbi.nlm.nih.gov/pubmed/29134359
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 disorder of gut microbiota.
http://www.ncbi.nlm.nih.gov/pubmed/29487059
Can midostaurin inhibit angiogenesis?
Yes, midostaurin can inhibit angiogenesis through the inhibition of ithe vascular endothelial growth factor receptor.
http://www.ncbi.nlm.nih.gov/pubmed/30069632
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 hematological neoplasm (SM-AHN) or mast cell leukemia (MCL).
http://www.ncbi.nlm.nih.gov/pubmed/30214018
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 leads to enhanced self-renewal and acquisition of cancer cell-like properties. The malignant characteristics of teratomas generated by ESCs that overexpress GRG5 reveal its pro-oncogenic potential.
http://www.ncbi.nlm.nih.gov/pubmed/28667089,http://www.ncbi.nlm.nih.gov/pubmed/28891346,http://www.ncbi.nlm.nih.gov/pubmed/27804127,http://www.ncbi.nlm.nih.gov/pubmed/29351449,http://www.ncbi.nlm.nih.gov/pubmed/26417173,http://www.ncbi.nlm.nih.gov/pubmed/27990075,http://www.ncbi.nlm.nih.gov/pubmed/29903751,http://www.ncbi.nlm.nih.gov/pubmed/29146575,http://www.ncbi.nlm.nih.gov/pubmed/27792891,http://www.ncbi.nlm.nih.gov/pubmed/28611092,http://www.ncbi.nlm.nih.gov/pubmed/28769592
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.
http://www.ncbi.nlm.nih.gov/pubmed/22513995,http://www.ncbi.nlm.nih.gov/pubmed/29112706
List available R packages for processing NanoString data
NanoStringNorm and NanoStringNormCNV.
http://www.ncbi.nlm.nih.gov/pubmed/29321310
Which disease is PGT121 used for?
The broadly neutrilizing antibody PGT121 is being tested against HIV-1.
http://www.ncbi.nlm.nih.gov/pubmed/30098152,http://www.ncbi.nlm.nih.gov/pubmed/29943374,http://www.ncbi.nlm.nih.gov/pubmed/29438373,http://www.ncbi.nlm.nih.gov/pubmed/30139768,http://www.ncbi.nlm.nih.gov/pubmed/30032842,http://www.ncbi.nlm.nih.gov/pubmed/28953502,http://www.ncbi.nlm.nih.gov/pubmed/27716285,http://www.ncbi.nlm.nih.gov/pubmed/29446853,http://www.ncbi.nlm.nih.gov/pubmed/29620050,http://www.ncbi.nlm.nih.gov/pubmed/29454091,http://www.ncbi.nlm.nih.gov/pubmed/29764596,http://www.ncbi.nlm.nih.gov/pubmed/30231931,http://www.ncbi.nlm.nih.gov/pubmed/30146257
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.
http://www.ncbi.nlm.nih.gov/pubmed/29028893
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 within an arbitrary pedigree structure. Canvas SPW is a tool developed for the identification of inherited and de novo copy number variants from pedigree sequencing data. Canvas SPW supports a number of family structures and provides a wide range of scoring and filtering options to automate and streamline identification of de novo variants. The tool is available for download from https://github.com/Illumina/canvas.
http://www.ncbi.nlm.nih.gov/pubmed/26928472,http://www.ncbi.nlm.nih.gov/pubmed/18485117,http://www.ncbi.nlm.nih.gov/pubmed/30201700,http://www.ncbi.nlm.nih.gov/pubmed/29675446,http://www.ncbi.nlm.nih.gov/pubmed/20829607
List phagosomal markers.
Rab7 LAMP1 Cathepsin D Rab9 V-ATPase CD63
http://www.ncbi.nlm.nih.gov/pubmed/27216072,http://www.ncbi.nlm.nih.gov/pubmed/27458220
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.
http://www.ncbi.nlm.nih.gov/pubmed/29847465,http://www.ncbi.nlm.nih.gov/pubmed/29358305,http://www.ncbi.nlm.nih.gov/pubmed/29900534,http://www.ncbi.nlm.nih.gov/pubmed/30236619
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.
http://www.ncbi.nlm.nih.gov/pubmed/29092934,http://www.ncbi.nlm.nih.gov/pubmed/29346510
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 generated images and variant metadata. VIPER was successfully employed in analyses with manual inspection of more than 10 000 calls.
http://www.ncbi.nlm.nih.gov/pubmed/29414279
Name one CCR4 targeted drug.
Mogamulizumab is an anti-CCR4 monoclonal antibody.
http://www.ncbi.nlm.nih.gov/pubmed/30456447,http://www.ncbi.nlm.nih.gov/pubmed/29666026,http://www.ncbi.nlm.nih.gov/pubmed/30377167,http://www.ncbi.nlm.nih.gov/pubmed/29863979,http://www.ncbi.nlm.nih.gov/pubmed/29934319
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 radiation.
http://www.ncbi.nlm.nih.gov/pubmed/30423090
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.
http://www.ncbi.nlm.nih.gov/pubmed/22801880,http://www.ncbi.nlm.nih.gov/pubmed/28403434,http://www.ncbi.nlm.nih.gov/pubmed/25209454,http://www.ncbi.nlm.nih.gov/pubmed/16968736,http://www.ncbi.nlm.nih.gov/pubmed/20522418
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.
http://www.ncbi.nlm.nih.gov/pubmed/30305743,http://www.ncbi.nlm.nih.gov/pubmed/27773354
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 health and medical records. Genome-wide genotype data have been collected on all participants, providing many opportunities for the discovery of new genetic associations and the genetic bases of complex traits.
http://www.ncbi.nlm.nih.gov/pubmed/30093505
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.
http://www.ncbi.nlm.nih.gov/pubmed/30140466,http://www.ncbi.nlm.nih.gov/pubmed/25626182,http://www.ncbi.nlm.nih.gov/pubmed/29976469
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.
http://www.ncbi.nlm.nih.gov/pubmed/30137632
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.
http://www.ncbi.nlm.nih.gov/pubmed/30226837
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, the year of their first report, the levels of funding awarded by the National Institutes of Health (NIH), and the development of drugs against disease-associated genes.
http://www.ncbi.nlm.nih.gov/pubmed/27597741
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.
http://www.ncbi.nlm.nih.gov/pubmed/23226529,http://www.ncbi.nlm.nih.gov/pubmed/24223514,http://www.ncbi.nlm.nih.gov/pubmed/21632769,http://www.ncbi.nlm.nih.gov/pubmed/19731560,http://www.ncbi.nlm.nih.gov/pubmed/29902179,http://www.ncbi.nlm.nih.gov/pubmed/28276922,http://www.ncbi.nlm.nih.gov/pubmed/22581627,http://www.ncbi.nlm.nih.gov/pubmed/22874836,http://www.ncbi.nlm.nih.gov/pubmed/29068302,http://www.ncbi.nlm.nih.gov/pubmed/26411737,http://www.ncbi.nlm.nih.gov/pubmed/26270298,http://www.ncbi.nlm.nih.gov/pubmed/27093238
What is the indication for Truvada?
Truvada is used for HIV pre-exposure prophylaxis (PrEP) in high risk individualspre-exposure prophylaxis (PrEP) and the recent approval by the FDA of the supplemental indication for Truvada as PrEP
http://www.ncbi.nlm.nih.gov/pubmed/29719497
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 function in the hippocampi of Adar3-deficient mice.
http://www.ncbi.nlm.nih.gov/pubmed/29472271,http://www.ncbi.nlm.nih.gov/pubmed/29505322,http://www.ncbi.nlm.nih.gov/pubmed/29127039,http://www.ncbi.nlm.nih.gov/pubmed/30079976,http://www.ncbi.nlm.nih.gov/pubmed/29170142
List STING agonists.
CDN 3'3'-cGAMP dimethylxanthenone-4-acetic acid α-Mangostin
http://www.ncbi.nlm.nih.gov/pubmed/29587324,http://www.ncbi.nlm.nih.gov/pubmed/29728867,http://www.ncbi.nlm.nih.gov/pubmed/30332546,http://www.ncbi.nlm.nih.gov/pubmed/29223605,http://www.ncbi.nlm.nih.gov/pubmed/30187355,http://www.ncbi.nlm.nih.gov/pubmed/29468108,http://www.ncbi.nlm.nih.gov/pubmed/29562145
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.
http://www.ncbi.nlm.nih.gov/pubmed/29446767
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 affected tissues from 6 of the 9 patients studied.
http://www.ncbi.nlm.nih.gov/pubmed/30367574
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. The method is based on an iterative classification procedure and an adaptive feature elimination technique that enables the computation of many rule-based models related to the cancer under study. CamurWeb includes a user friendly interface for running the software, querying the results, and managing the performed experiments.
http://www.ncbi.nlm.nih.gov/pubmed/30404778
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-fold less material than required by existing CAGE methods.
http://www.ncbi.nlm.nih.gov/pubmed/26746652,http://www.ncbi.nlm.nih.gov/pubmed/27900502,http://www.ncbi.nlm.nih.gov/pubmed/28370177,http://www.ncbi.nlm.nih.gov/pubmed/21799568,http://www.ncbi.nlm.nih.gov/pubmed/29278542,http://www.ncbi.nlm.nih.gov/pubmed/27177804,http://www.ncbi.nlm.nih.gov/pubmed/28657199,http://www.ncbi.nlm.nih.gov/pubmed/23570850,http://www.ncbi.nlm.nih.gov/pubmed/23972284,http://www.ncbi.nlm.nih.gov/pubmed/25987851
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.The antiviral agent tenofovir is highly effective for the treatment of HIV and hepatitis B virus infections, and the older prodrug tenofovir disoproxil fumarate (TDF) is also a component of daily preexposure prophylaxis (PrEP) to reduce the risk of HIV infection in high-risk populations.
http://www.ncbi.nlm.nih.gov/pubmed/29896030,http://www.ncbi.nlm.nih.gov/pubmed/29679282,http://www.ncbi.nlm.nih.gov/pubmed/30459508,http://www.ncbi.nlm.nih.gov/pubmed/30269120,http://www.ncbi.nlm.nih.gov/pubmed/30207609,http://www.ncbi.nlm.nih.gov/pubmed/29791829,http://www.ncbi.nlm.nih.gov/pubmed/29381780,http://www.ncbi.nlm.nih.gov/pubmed/29545670,http://www.ncbi.nlm.nih.gov/pubmed/29947083
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.
http://www.ncbi.nlm.nih.gov/pubmed/29477724,http://www.ncbi.nlm.nih.gov/pubmed/30063981
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.Heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of common variable immunodeficiency (CVID), which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells.
http://www.ncbi.nlm.nih.gov/pubmed/28675594,http://www.ncbi.nlm.nih.gov/pubmed/30004790,http://www.ncbi.nlm.nih.gov/pubmed/29578577,http://www.ncbi.nlm.nih.gov/pubmed/28967706,http://www.ncbi.nlm.nih.gov/pubmed/29290671,http://www.ncbi.nlm.nih.gov/pubmed/29746444,http://www.ncbi.nlm.nih.gov/pubmed/29914965,http://www.ncbi.nlm.nih.gov/pubmed/29361041,http://www.ncbi.nlm.nih.gov/pubmed/29288370,http://www.ncbi.nlm.nih.gov/pubmed/29998227
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).
http://www.ncbi.nlm.nih.gov/pubmed/28568312,http://www.ncbi.nlm.nih.gov/pubmed/24259423,http://www.ncbi.nlm.nih.gov/pubmed/28827050,http://www.ncbi.nlm.nih.gov/pubmed/28867969,http://www.ncbi.nlm.nih.gov/pubmed/8286427,http://www.ncbi.nlm.nih.gov/pubmed/12141811,http://www.ncbi.nlm.nih.gov/pubmed/10381906,http://www.ncbi.nlm.nih.gov/pubmed/28919276,http://www.ncbi.nlm.nih.gov/pubmed/18223498,http://www.ncbi.nlm.nih.gov/pubmed/25994244,http://www.ncbi.nlm.nih.gov/pubmed/19253525,http://www.ncbi.nlm.nih.gov/pubmed/28717439
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 primary esophageal motility disorder characterized by aperistalsis of the esophagus and failed relaxation of the lower esophageal sphincter that presents rarely in childhood. Idiopathic achalasia is a rare esophageal motor disorder. The pathophysiology of achalasia is largely unknown, and involves the destruction of ganglion cell in the esophageal myenteric plexus.achalasia is a primary esophageal motility disorderAchalasia 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. Idiopathic achalasia is a rare esophageal motor disorder.Achalasia is a rare idiopathic disease, associated with significant morbidity and negative impact on life quality. The disorder is characterized by impairments in the esophageal motility and loss of the lower esophageal sphincter (LES) relaxation.
http://www.ncbi.nlm.nih.gov/pubmed/29771371
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.
http://www.ncbi.nlm.nih.gov/pubmed/17439072,http://www.ncbi.nlm.nih.gov/pubmed/10431669,http://www.ncbi.nlm.nih.gov/pubmed/20561063,http://www.ncbi.nlm.nih.gov/pubmed/23772971,http://www.ncbi.nlm.nih.gov/pubmed/29284330,http://www.ncbi.nlm.nih.gov/pubmed/23201368,http://www.ncbi.nlm.nih.gov/pubmed/17559486,http://www.ncbi.nlm.nih.gov/pubmed/17849966,http://www.ncbi.nlm.nih.gov/pubmed/20415926,http://www.ncbi.nlm.nih.gov/pubmed/28247977,http://www.ncbi.nlm.nih.gov/pubmed/11871678,http://www.ncbi.nlm.nih.gov/pubmed/12794658,http://www.ncbi.nlm.nih.gov/pubmed/24096230,http://www.ncbi.nlm.nih.gov/pubmed/26863819,http://www.ncbi.nlm.nih.gov/pubmed/23589947,http://www.ncbi.nlm.nih.gov/pubmed/19302167,http://www.ncbi.nlm.nih.gov/pubmed/29257770,http://www.ncbi.nlm.nih.gov/pubmed/27207008,http://www.ncbi.nlm.nih.gov/pubmed/26535101,http://www.ncbi.nlm.nih.gov/pubmed/18624934,http://www.ncbi.nlm.nih.gov/pubmed/15773524,http://www.ncbi.nlm.nih.gov/pubmed/8982420,http://www.ncbi.nlm.nih.gov/pubmed/18625105,http://www.ncbi.nlm.nih.gov/pubmed/27209717,http://www.ncbi.nlm.nih.gov/pubmed/26962284
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 the oral mucosa and the absence of any clinical signs.Burning mouth syndrome (BMS) is a chronic oral pain syndrome that primarily affects peri- and postmenopausal women. It is characterized by oral mucosal burning and may be associated with dysgeusia, paresthesia, dysesthesia, and xerostomia.
http://www.ncbi.nlm.nih.gov/pubmed/28796412,http://www.ncbi.nlm.nih.gov/pubmed/29154784,http://www.ncbi.nlm.nih.gov/pubmed/28361205,http://www.ncbi.nlm.nih.gov/pubmed/28582340,http://www.ncbi.nlm.nih.gov/pubmed/28482112
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.
http://www.ncbi.nlm.nih.gov/pubmed/25631286,http://www.ncbi.nlm.nih.gov/pubmed/29698650,http://www.ncbi.nlm.nih.gov/pubmed/26915272,http://www.ncbi.nlm.nih.gov/pubmed/23379365,http://www.ncbi.nlm.nih.gov/pubmed/29330303,http://www.ncbi.nlm.nih.gov/pubmed/28932898,http://www.ncbi.nlm.nih.gov/pubmed/22052352,http://www.ncbi.nlm.nih.gov/pubmed/23077577,http://www.ncbi.nlm.nih.gov/pubmed/17514901,http://www.ncbi.nlm.nih.gov/pubmed/28148884,http://www.ncbi.nlm.nih.gov/pubmed/23045389
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.Yeast prions have become important models for the study of the basic mechanisms underlying human amyloid diseases and normal yeast cells can eliminate the large majority of prion variants arising.Endogenous yeast amyloids that control heritable traits and are frequently used as models for human amyloid diseases are termed yeast prionsThese infectious yeast amyloidoses are outstanding models for the many common human amyloid-based diseases that are increasingly found to have some infectious characteristics.
http://www.ncbi.nlm.nih.gov/pubmed/26318715,http://www.ncbi.nlm.nih.gov/pubmed/29688121,http://www.ncbi.nlm.nih.gov/pubmed/28059609,http://www.ncbi.nlm.nih.gov/pubmed/30145099,http://www.ncbi.nlm.nih.gov/pubmed/23597719,http://www.ncbi.nlm.nih.gov/pubmed/28481726
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.
http://www.ncbi.nlm.nih.gov/pubmed/27334730,http://www.ncbi.nlm.nih.gov/pubmed/29782217,http://www.ncbi.nlm.nih.gov/pubmed/28085503,http://www.ncbi.nlm.nih.gov/pubmed/28979129,http://www.ncbi.nlm.nih.gov/pubmed/28547386,http://www.ncbi.nlm.nih.gov/pubmed/28971769,http://www.ncbi.nlm.nih.gov/pubmed/28990423,http://www.ncbi.nlm.nih.gov/pubmed/29036019,http://www.ncbi.nlm.nih.gov/pubmed/26428945,http://www.ncbi.nlm.nih.gov/pubmed/25214796,http://www.ncbi.nlm.nih.gov/pubmed/23688323,http://www.ncbi.nlm.nih.gov/pubmed/29059087,http://www.ncbi.nlm.nih.gov/pubmed/30167841,http://www.ncbi.nlm.nih.gov/pubmed/29355679,http://www.ncbi.nlm.nih.gov/pubmed/29939132,http://www.ncbi.nlm.nih.gov/pubmed/29782224,http://www.ncbi.nlm.nih.gov/pubmed/28478972
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.
http://www.ncbi.nlm.nih.gov/pubmed/30244834
What is the role of the Mcm2-Ctf4-Polα axis?
The Mcm2-Ctf4-Polα axis facilitates parental histone H3-H4 transfer to lagging strands.The Mcm2-Ctf4-Polα Axis Facilitates Parental Histone H3-H4 Transfer to Lagging Strands.The Mcm2-Ctf4-Polα Axis Facilitates Parental Histone H3-H4 Transfer to Lagging Strands. Although essential for epigenetic inheritance, the transfer of parental histone (H3-H4)2 tetramers that contain epigenetic modifications to replicating DNA strands is poorly understood.
http://www.ncbi.nlm.nih.gov/pubmed/29753094,http://www.ncbi.nlm.nih.gov/pubmed/17522144,http://www.ncbi.nlm.nih.gov/pubmed/26250054,http://www.ncbi.nlm.nih.gov/pubmed/30515001,http://www.ncbi.nlm.nih.gov/pubmed/20704474,http://www.ncbi.nlm.nih.gov/pubmed/30262714,http://www.ncbi.nlm.nih.gov/pubmed/27785411,http://www.ncbi.nlm.nih.gov/pubmed/25071894,http://www.ncbi.nlm.nih.gov/pubmed/28590501
What is anophthalmia?
Microphthalmia, anophthalmia are the malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball.Anophthalmia is the medical term for the absence of one or both eyes.
http://www.ncbi.nlm.nih.gov/pubmed/29879106,http://www.ncbi.nlm.nih.gov/pubmed/29463814,http://www.ncbi.nlm.nih.gov/pubmed/22383942
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 intermediates that persist into the second meiotic division.
http://www.ncbi.nlm.nih.gov/pubmed/29166661
What is the contribution of ultraconserved elements in Australasian smurf-weevils?
Ultraconserved elements (UCEs) resolve the phylogeny of Australasian smurf-weevils.
http://www.ncbi.nlm.nih.gov/pubmed/9339823,http://www.ncbi.nlm.nih.gov/pubmed/1311751,http://www.ncbi.nlm.nih.gov/pubmed/14747968,http://www.ncbi.nlm.nih.gov/pubmed/28569348,http://www.ncbi.nlm.nih.gov/pubmed/20178376
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.Botulinum toxin (BTX) is widely used to treat muscle spasticity by acting on motor neurons producing a flaccid paralysis. It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromuscular junction.
http://www.ncbi.nlm.nih.gov/pubmed/29241176,http://www.ncbi.nlm.nih.gov/pubmed/29568396,http://www.ncbi.nlm.nih.gov/pubmed/29569086,http://www.ncbi.nlm.nih.gov/pubmed/28830841,http://www.ncbi.nlm.nih.gov/pubmed/29204019,http://www.ncbi.nlm.nih.gov/pubmed/29548059,http://www.ncbi.nlm.nih.gov/pubmed/29170066
What is the most common pediatric glioma?
Pilocytic astrocytoma is the most common pediatric glioma.
http://www.ncbi.nlm.nih.gov/pubmed/29346345,http://www.ncbi.nlm.nih.gov/pubmed/28748479,http://www.ncbi.nlm.nih.gov/pubmed/29367762
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.
http://www.ncbi.nlm.nih.gov/pubmed/17564968,http://www.ncbi.nlm.nih.gov/pubmed/23589652
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 uniparental disomy (UPD), in a large number of acute leukemia samples.
http://www.ncbi.nlm.nih.gov/pubmed/28636139,http://www.ncbi.nlm.nih.gov/pubmed/29381490,http://www.ncbi.nlm.nih.gov/pubmed/30426794,http://www.ncbi.nlm.nih.gov/pubmed/29606109,http://www.ncbi.nlm.nih.gov/pubmed/29420164,http://www.ncbi.nlm.nih.gov/pubmed/29856649,http://www.ncbi.nlm.nih.gov/pubmed/29695920,http://www.ncbi.nlm.nih.gov/pubmed/29734647,http://www.ncbi.nlm.nih.gov/pubmed/29626324,http://www.ncbi.nlm.nih.gov/pubmed/27160947
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 is emerging as additional new option to treat castration-resistant prostate cancer.
http://www.ncbi.nlm.nih.gov/pubmed/30069765,http://www.ncbi.nlm.nih.gov/pubmed/29466156,http://www.ncbi.nlm.nih.gov/pubmed/29568395,http://www.ncbi.nlm.nih.gov/pubmed/29653952,http://www.ncbi.nlm.nih.gov/pubmed/30204247,http://www.ncbi.nlm.nih.gov/pubmed/28578312,http://www.ncbi.nlm.nih.gov/pubmed/30350734,http://www.ncbi.nlm.nih.gov/pubmed/29606586,http://www.ncbi.nlm.nih.gov/pubmed/29764494
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.
http://www.ncbi.nlm.nih.gov/pubmed/29358597,http://www.ncbi.nlm.nih.gov/pubmed/28123903
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.
http://www.ncbi.nlm.nih.gov/pubmed/25216227,http://www.ncbi.nlm.nih.gov/pubmed/27501129,http://www.ncbi.nlm.nih.gov/pubmed/25143825,http://www.ncbi.nlm.nih.gov/pubmed/25911963,http://www.ncbi.nlm.nih.gov/pubmed/30100329
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.
http://www.ncbi.nlm.nih.gov/pubmed/28376707,http://www.ncbi.nlm.nih.gov/pubmed/11585074,http://www.ncbi.nlm.nih.gov/pubmed/26001830,http://www.ncbi.nlm.nih.gov/pubmed/2933494,http://www.ncbi.nlm.nih.gov/pubmed/28065641,http://www.ncbi.nlm.nih.gov/pubmed/25436164,http://www.ncbi.nlm.nih.gov/pubmed/8362051,http://www.ncbi.nlm.nih.gov/pubmed/11921024,http://www.ncbi.nlm.nih.gov/pubmed/17674583
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.
http://www.ncbi.nlm.nih.gov/pubmed/29580829,http://www.ncbi.nlm.nih.gov/pubmed/28193033,http://www.ncbi.nlm.nih.gov/pubmed/28194692,http://www.ncbi.nlm.nih.gov/pubmed/28852705,http://www.ncbi.nlm.nih.gov/pubmed/17405070,http://www.ncbi.nlm.nih.gov/pubmed/23605131,http://www.ncbi.nlm.nih.gov/pubmed/23056867,http://www.ncbi.nlm.nih.gov/pubmed/29436379,http://www.ncbi.nlm.nih.gov/pubmed/18728376,http://www.ncbi.nlm.nih.gov/pubmed/25530017,http://www.ncbi.nlm.nih.gov/pubmed/24485874,http://www.ncbi.nlm.nih.gov/pubmed/15274098,http://www.ncbi.nlm.nih.gov/pubmed/29124052,http://www.ncbi.nlm.nih.gov/pubmed/28208841,http://www.ncbi.nlm.nih.gov/pubmed/28129813,http://www.ncbi.nlm.nih.gov/pubmed/29338740
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.
http://www.ncbi.nlm.nih.gov/pubmed/17304541,http://www.ncbi.nlm.nih.gov/pubmed/14527150,http://www.ncbi.nlm.nih.gov/pubmed/29983317,http://www.ncbi.nlm.nih.gov/pubmed/29998471,http://www.ncbi.nlm.nih.gov/pubmed/20349506
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.Leguminous plants open their leaves during the daytime and close them at night as if sleeping, a type of movement that follows circadian rhythms, and is known as nyctinastic movement
http://www.ncbi.nlm.nih.gov/pubmed/18306452,http://www.ncbi.nlm.nih.gov/pubmed/20691136,http://www.ncbi.nlm.nih.gov/pubmed/24349058,http://www.ncbi.nlm.nih.gov/pubmed/28100919
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.
http://www.ncbi.nlm.nih.gov/pubmed/28968638,http://www.ncbi.nlm.nih.gov/pubmed/23564842
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.
http://www.ncbi.nlm.nih.gov/pubmed/30247488
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 model generalizes across genome builds and mammalian species, allowing nonhuman sequencing projects to benefit from the wealth of human ground-truth data.
http://www.ncbi.nlm.nih.gov/pubmed/29190878,http://www.ncbi.nlm.nih.gov/pubmed/21849520,http://www.ncbi.nlm.nih.gov/pubmed/22704678,http://www.ncbi.nlm.nih.gov/pubmed/18381574,http://www.ncbi.nlm.nih.gov/pubmed/23874564,http://www.ncbi.nlm.nih.gov/pubmed/19289123,http://www.ncbi.nlm.nih.gov/pubmed/17482547
What 2 biological processes are regulated by STAMP2 in adipocytes?
Inflammation, insulin resistance and metabolic response are regulated by STAMP2 in adipocytes.six-transmembrane protein stamp2 as a critical modulator of this integrated response system of inflammation and metabolism
http://www.ncbi.nlm.nih.gov/pubmed/27568835,http://www.ncbi.nlm.nih.gov/pubmed/27438291,http://www.ncbi.nlm.nih.gov/pubmed/27223666,http://www.ncbi.nlm.nih.gov/pubmed/29075190,http://www.ncbi.nlm.nih.gov/pubmed/29802412,http://www.ncbi.nlm.nih.gov/pubmed/27787717,http://www.ncbi.nlm.nih.gov/pubmed/28129985,http://www.ncbi.nlm.nih.gov/pubmed/22820944,http://www.ncbi.nlm.nih.gov/pubmed/30359639,http://www.ncbi.nlm.nih.gov/pubmed/28490912,http://www.ncbi.nlm.nih.gov/pubmed/23472741,http://www.ncbi.nlm.nih.gov/pubmed/22356925,http://www.ncbi.nlm.nih.gov/pubmed/24107292,http://www.ncbi.nlm.nih.gov/pubmed/23327739,http://www.ncbi.nlm.nih.gov/pubmed/28449891,http://www.ncbi.nlm.nih.gov/pubmed/30503715
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.
http://www.ncbi.nlm.nih.gov/pubmed/28200120,http://www.ncbi.nlm.nih.gov/pubmed/23564842
Which methods have been developed for extracting sequence variants from the literature?
TmVar and nala
http://www.ncbi.nlm.nih.gov/pubmed/26530902,http://www.ncbi.nlm.nih.gov/pubmed/30444612,http://www.ncbi.nlm.nih.gov/pubmed/29145097,http://www.ncbi.nlm.nih.gov/pubmed/27025608,http://www.ncbi.nlm.nih.gov/pubmed/26334219,http://www.ncbi.nlm.nih.gov/pubmed/29314097,http://www.ncbi.nlm.nih.gov/pubmed/28881794
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.
http://www.ncbi.nlm.nih.gov/pubmed/30129050,http://www.ncbi.nlm.nih.gov/pubmed/29698620,http://www.ncbi.nlm.nih.gov/pubmed/29344652,http://www.ncbi.nlm.nih.gov/pubmed/29367091,http://www.ncbi.nlm.nih.gov/pubmed/29497904,http://www.ncbi.nlm.nih.gov/pubmed/27171670,http://www.ncbi.nlm.nih.gov/pubmed/29609691
What is Chrysophanol?
Chrysophanol is an anthraquinone compound, which exhibits anticancer effects on certain types of cancer cellsChrysophanol is a unique anthraquinone having broad-spectrum therapeutic potential along with ecological importance. A plethora of literature is available on the pharmacological properties of chrysophanol, which include anticancer, anti-inflammatory, and antimicrobial activities.
http://www.ncbi.nlm.nih.gov/pubmed/30291343
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.1 in 38 healthy individuals (2.7%) has a (likely) pathogenic variant in one of 59 medically actionable dominant disease genes for which the American College of Medical Genetics and Genomics (ACMG) recommends disclosure.