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http://www.ncbi.nlm.nih.gov/pubmed/27100513,http://www.ncbi.nlm.nih.gov/pubmed/21910976
Please list the 4 genes involved in Sanfilippo syndrome, also known as mucopolysaccharidosis III (MPS-III).
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. The genes are SGSH, NAGLU, HGSNAT or GNS.
http://www.ncbi.nlm.nih.gov/pubmed/29369293
What is CardioClassifier?
CardioClassifier (http://www.cardioclassifier.org) is a semiautomated decision support tool for clinical genome interpretation. CardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant interpretation. CardioClassifier identified putatively disease-causing variants in 33.7% of 327 cardiomyopathy cases, comparable with leading ICC laboratories. Through addition of manually curated data, variants found in over 40% of cardiomyopathy cases are fully annotated, without requiring additional user-input data.
http://www.ncbi.nlm.nih.gov/pubmed/29484123,http://www.ncbi.nlm.nih.gov/pubmed/28941722
List clinical disorders or diseases where uc.189 is involved?
Univariate and multivariate Cox regression analysis demonstrated that over-expression of uc.189 predicted poor prognosis in Cervical squamous cell carcinomas (CSCC) and Endometrial adenocarcinomas (EAC). Thus, several findings suggested uc.189 might be an evaluating prognosis marker of gynecological tumors. In addition, high expression of uc.189 might reflect poor prognosis of Esophageal squamous cell carcinoma (ESCC) and indicate a potential diagnostic target in ESCC patients. Uc.189 might be considered as a novel molecule involved in ESCC progression, which provides a potential prognostic biomarker and therapeutic target.
http://www.ncbi.nlm.nih.gov/pubmed/29461065,http://www.ncbi.nlm.nih.gov/pubmed/28749667,http://www.ncbi.nlm.nih.gov/pubmed/29719179,http://www.ncbi.nlm.nih.gov/pubmed/29397980
Is verubecestat effective for Alzheimer’s Disease?
No. Verubecestat is not effective for treatment of Alzheimer’s Disease.
http://www.ncbi.nlm.nih.gov/pubmed/23625205,http://www.ncbi.nlm.nih.gov/pubmed/24941379,http://www.ncbi.nlm.nih.gov/pubmed/17510296,http://www.ncbi.nlm.nih.gov/pubmed/30009514,http://www.ncbi.nlm.nih.gov/pubmed/25816339,http://www.ncbi.nlm.nih.gov/pubmed/19395875,http://www.ncbi.nlm.nih.gov/pubmed/21480393,http://www.ncbi.nlm.nih.gov/pubmed/27077118,http://www.ncbi.nlm.nih.gov/pubmed/20871631,http://www.ncbi.nlm.nih.gov/pubmed/29978334
What is the role of metalloproteinase-17 (ADAM17) in NK cells?
The metalloproteinase-17 (ADAM17) is involved in CD16A cleavage and acts as a regulatory checkpoint in NK cells
http://www.ncbi.nlm.nih.gov/pubmed/15281985,http://www.ncbi.nlm.nih.gov/pubmed/29065902,http://www.ncbi.nlm.nih.gov/pubmed/15865255,http://www.ncbi.nlm.nih.gov/pubmed/10938204,http://www.ncbi.nlm.nih.gov/pubmed/15942506,http://www.ncbi.nlm.nih.gov/pubmed/12150220,http://www.ncbi.nlm.nih.gov/pubmed/10332378,http://www.ncbi.nlm.nih.gov/pubmed/12783021,http://www.ncbi.nlm.nih.gov/pubmed/24827666,http://www.ncbi.nlm.nih.gov/pubmed/27081272,http://www.ncbi.nlm.nih.gov/pubmed/27165478,http://www.ncbi.nlm.nih.gov/pubmed/28955585,http://www.ncbi.nlm.nih.gov/pubmed/8725591,http://www.ncbi.nlm.nih.gov/pubmed/2160251,http://www.ncbi.nlm.nih.gov/pubmed/22836908,http://www.ncbi.nlm.nih.gov/pubmed/29766816,http://www.ncbi.nlm.nih.gov/pubmed/29554155,http://www.ncbi.nlm.nih.gov/pubmed/1561252,http://www.ncbi.nlm.nih.gov/pubmed/30217753,http://www.ncbi.nlm.nih.gov/pubmed/17103360,http://www.ncbi.nlm.nih.gov/pubmed/26698837,http://www.ncbi.nlm.nih.gov/pubmed/6743105
What is the triad of Melkersson-Rosenthal syndrome?
Melkersson-Rosenthal syndrome is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial edema and fissured tongue.
http://www.ncbi.nlm.nih.gov/pubmed/29616494,http://www.ncbi.nlm.nih.gov/pubmed/30341990,http://www.ncbi.nlm.nih.gov/pubmed/29310444,http://www.ncbi.nlm.nih.gov/pubmed/29432219,http://www.ncbi.nlm.nih.gov/pubmed/29691490,http://www.ncbi.nlm.nih.gov/pubmed/30182284,http://www.ncbi.nlm.nih.gov/pubmed/29089894,http://www.ncbi.nlm.nih.gov/pubmed/29255900,http://www.ncbi.nlm.nih.gov/pubmed/30413151,http://www.ncbi.nlm.nih.gov/pubmed/29697153,http://www.ncbi.nlm.nih.gov/pubmed/29848108,http://www.ncbi.nlm.nih.gov/pubmed/30446596,http://www.ncbi.nlm.nih.gov/pubmed/30378008
Is galcanezumab effective for treatment of migraine?
Yes. Galcanezumab is a humanized monoclonal antibody binding calcitonin gene-related peptide that is used for migraine prevention.
http://www.ncbi.nlm.nih.gov/pubmed/30478036
Can mitochondria be inherited by both parents in humans?
Yes. A comprehensive exploration of mtDNA segregation in certain families shows biparental mtDNA transmission with an autosomal dominant-like inheritance mode. Although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring.
http://www.ncbi.nlm.nih.gov/pubmed/10760494,http://www.ncbi.nlm.nih.gov/pubmed/8877308
Can Diazepam be beneficial in the treatment of traumatic brain injury?
Diazepam treatment improved cognitive recovery and mortality in brain injured rats.
http://www.ncbi.nlm.nih.gov/pubmed/29444201,http://www.ncbi.nlm.nih.gov/pubmed/28915787
Name the algorithms for counting multi-mapping reads
RNA-Seq is currently used routinely, and it provides accurate information on gene transcription. However, the method cannot accurately estimate duplicated genes expression. Several strategies have been previously used (drop duplicated genes, distribute uniformly the reads, or estimate expression), but all of them provide biased results. Mmquant is a tool for computing gene expression, including duplicated genes. If a read maps at different positions, the tool detects that the corresponding genes are duplicated; it merges the genes and creates a merged gene. The counts of ambiguous reads is then based on the input genes and the merged genes. Other methods have been developed that use weighted allocation of read counts but these methods treat the different types of multi-reads equivalently. For instance a hierarchical approach was developed for allocation of read counts that first resolves ambiguities among genes, then among isoforms, and lastly between alleles. The model has been implemented in EMASE software (Expectation-Maximization for Allele Specific Expression) to estimate total gene expression, isoform usage and ASE based on this hierarchical allocation.
http://www.ncbi.nlm.nih.gov/pubmed/27222271,http://www.ncbi.nlm.nih.gov/pubmed/18469850,http://www.ncbi.nlm.nih.gov/pubmed/22001260
In clinical trials, the H3 R antagonist CEP-26401 has a positive effect on cognition, yes or no?
The H3 R antagonist CEP-26401 had an effect on cognition.CEP-26401 is a novel orally active, brain-penetrant, high-affinity histamine H3 receptor (H3R) antagonist, with potential therapeutic utility in cognition enhancement
http://www.ncbi.nlm.nih.gov/pubmed/28178876,http://www.ncbi.nlm.nih.gov/pubmed/27999162,http://www.ncbi.nlm.nih.gov/pubmed/27194400,http://www.ncbi.nlm.nih.gov/pubmed/29104169,http://www.ncbi.nlm.nih.gov/pubmed/29450831,http://www.ncbi.nlm.nih.gov/pubmed/29020255,http://www.ncbi.nlm.nih.gov/pubmed/27648772,http://www.ncbi.nlm.nih.gov/pubmed/28506071,http://www.ncbi.nlm.nih.gov/pubmed/25548572,http://www.ncbi.nlm.nih.gov/pubmed/26204547,http://www.ncbi.nlm.nih.gov/pubmed/28195180,http://www.ncbi.nlm.nih.gov/pubmed/29076071,http://www.ncbi.nlm.nih.gov/pubmed/23333862,http://www.ncbi.nlm.nih.gov/pubmed/24939885,http://www.ncbi.nlm.nih.gov/pubmed/26616138,http://www.ncbi.nlm.nih.gov/pubmed/23844515,http://www.ncbi.nlm.nih.gov/pubmed/26901316,http://www.ncbi.nlm.nih.gov/pubmed/24440934,http://www.ncbi.nlm.nih.gov/pubmed/28125667
Fecal transplantation is used to treat infection with what bacteria?
Fecal microbiota transplantation is used to treat Clostridium difficile infection
http://www.ncbi.nlm.nih.gov/pubmed/28493654,http://www.ncbi.nlm.nih.gov/pubmed/24183563,http://www.ncbi.nlm.nih.gov/pubmed/27609312,http://www.ncbi.nlm.nih.gov/pubmed/29497575,http://www.ncbi.nlm.nih.gov/pubmed/29185542,http://www.ncbi.nlm.nih.gov/pubmed/29047301,http://www.ncbi.nlm.nih.gov/pubmed/26908168,http://www.ncbi.nlm.nih.gov/pubmed/28385039,http://www.ncbi.nlm.nih.gov/pubmed/28622212,http://www.ncbi.nlm.nih.gov/pubmed/28375643,http://www.ncbi.nlm.nih.gov/pubmed/29452684,http://www.ncbi.nlm.nih.gov/pubmed/28880354,http://www.ncbi.nlm.nih.gov/pubmed/29098976,http://www.ncbi.nlm.nih.gov/pubmed/29185820,http://www.ncbi.nlm.nih.gov/pubmed/29105858,http://www.ncbi.nlm.nih.gov/pubmed/27262680,http://www.ncbi.nlm.nih.gov/pubmed/30298184,http://www.ncbi.nlm.nih.gov/pubmed/26744739,http://www.ncbi.nlm.nih.gov/pubmed/19907417,http://www.ncbi.nlm.nih.gov/pubmed/28817967,http://www.ncbi.nlm.nih.gov/pubmed/27830568,http://www.ncbi.nlm.nih.gov/pubmed/29955528
Is pimavanserin effective for Parkinson's disease psychosis?
Yes. Pimavanserin is effective for treating Parkinson's disease psychosis. It is a highly selective serotonin 5-HT2A receptor inverse agonist/antagonist.
http://www.ncbi.nlm.nih.gov/pubmed/28748399
When did delafloxacin receive its first approval in the USA for acute bacterial skin and skin structure infections?
Delafoxacin received approval in the USA for the treatment of acute bacterial skin and skin structure infections in 2017.
http://www.ncbi.nlm.nih.gov/pubmed/30409109,http://www.ncbi.nlm.nih.gov/pubmed/28736918,http://www.ncbi.nlm.nih.gov/pubmed/30242830,http://www.ncbi.nlm.nih.gov/pubmed/29432219,http://www.ncbi.nlm.nih.gov/pubmed/30360965,http://www.ncbi.nlm.nih.gov/pubmed/29691490,http://www.ncbi.nlm.nih.gov/pubmed/29471679,http://www.ncbi.nlm.nih.gov/pubmed/29171821,http://www.ncbi.nlm.nih.gov/pubmed/30074549,http://www.ncbi.nlm.nih.gov/pubmed/29697153,http://www.ncbi.nlm.nih.gov/pubmed/28835404,http://www.ncbi.nlm.nih.gov/pubmed/29968151,http://www.ncbi.nlm.nih.gov/pubmed/30086681
Erenumab, used to treat migraine headaches, binds to what protein?
Erenumab binds to the CGRP receptor to treat migraine headaches
http://www.ncbi.nlm.nih.gov/pubmed/30371827,http://www.ncbi.nlm.nih.gov/pubmed/29340599,http://www.ncbi.nlm.nih.gov/pubmed/25871441,http://www.ncbi.nlm.nih.gov/pubmed/27148939
What are the CADD scores?
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders. CADD is an integrative annotation built from more than 60 genomic features, and can score human single nucleotide variants and short insertion and deletions anywhere in the reference assembly.
http://www.ncbi.nlm.nih.gov/pubmed/29177641,http://www.ncbi.nlm.nih.gov/pubmed/29074127,http://www.ncbi.nlm.nih.gov/pubmed/28954263,http://www.ncbi.nlm.nih.gov/pubmed/10686432
What is a prolactinoma and where in the body would they be found?
Prolactinomas are the most common functional tumors of the pituitary gland.
http://www.ncbi.nlm.nih.gov/pubmed/28067908
Which integrin genes are activated by the immune system in inflammatory bowel disease?
ITGA4, ITGB8, ITGAL and ICAM1. In all four cases, the expression-increasing allele also increases disease risk.
http://www.ncbi.nlm.nih.gov/pubmed/30380071
Which is the database of somatic mutations in normal cells?
DSMNC is a database of somatic mutations in normal cells (http://dsmnc.big.ac.cn/) and provides a comprehensive catalogue of somatic SNVs in single cells from various normal tissues. In the current version, the database collected ∼0.8 million SNVs accumulated in ∼600 single normal cells (579 human cells and 39 mouse cells). The database interface supports the user-friendly capability of browsing and searching the SNVs and their annotation information.
http://www.ncbi.nlm.nih.gov/pubmed/28315543,http://www.ncbi.nlm.nih.gov/pubmed/29177842,http://www.ncbi.nlm.nih.gov/pubmed/27431756,http://www.ncbi.nlm.nih.gov/pubmed/26609205,http://www.ncbi.nlm.nih.gov/pubmed/30445951,http://www.ncbi.nlm.nih.gov/pubmed/26197742,http://www.ncbi.nlm.nih.gov/pubmed/30350179,http://www.ncbi.nlm.nih.gov/pubmed/27568360
Which drugs are included in the Lonsurf pill?
Lunsurf pill includes trifluridine and tipiracil. It is a novel form of chemotherapy for metastatic colorectal cancer.
http://www.ncbi.nlm.nih.gov/pubmed/27659729,http://www.ncbi.nlm.nih.gov/pubmed/28871467,http://www.ncbi.nlm.nih.gov/pubmed/29419571
What is the association of epigallocatechin with the cardiovascular system?
The compound epigallocatechin-3-gallate (EGCG), the major polyphenolic compound present in green tea [Camellia sinensis (Theaceae], has shown numerous cardiovascular health promoting activity through modulating various pathways. EGCG was found to exhibit a wide range of therapeutic properties.Epigallocatechin gallate (EGCG), a bioactive ingredient of green tea, plays a protective role in the cardiovascular system.
http://www.ncbi.nlm.nih.gov/pubmed/29772459,http://www.ncbi.nlm.nih.gov/pubmed/28923217,http://www.ncbi.nlm.nih.gov/pubmed/29804905,http://www.ncbi.nlm.nih.gov/pubmed/29955792
What is the mechanism of action of tucatinib?
Tucatinib is an oral, potent, human epidermal growth factor receptor 2 (HER2)-specific tyrosine kinase inhibitor (TKI) being developed as a novel treatment for ERBB2/HER2-positive breast cancer.
http://www.ncbi.nlm.nih.gov/pubmed/29400604,http://www.ncbi.nlm.nih.gov/pubmed/29376144,http://www.ncbi.nlm.nih.gov/pubmed/30394941,http://www.ncbi.nlm.nih.gov/pubmed/29458783,http://www.ncbi.nlm.nih.gov/pubmed/30322862,http://www.ncbi.nlm.nih.gov/pubmed/29744867,http://www.ncbi.nlm.nih.gov/pubmed/29067878,http://www.ncbi.nlm.nih.gov/pubmed/30174447,http://www.ncbi.nlm.nih.gov/pubmed/29373100,http://www.ncbi.nlm.nih.gov/pubmed/28594000,http://www.ncbi.nlm.nih.gov/pubmed/30413378,http://www.ncbi.nlm.nih.gov/pubmed/29174221
Which enzyme is inhibited by a drug Lorlatinib?
Lorlatinib is anaplastic lymphoma kinase inhibitor.
http://www.ncbi.nlm.nih.gov/pubmed/22546352,http://www.ncbi.nlm.nih.gov/pubmed/29046054,http://www.ncbi.nlm.nih.gov/pubmed/28294067,http://www.ncbi.nlm.nih.gov/pubmed/29249963
What periodontal disease associated bacteria is also associated with Alzheimer's disease?
Porphyromonas gingivalis, a keystone pathogen in chronic periodontitis, has been found to associate with remote body organ inflammatory pathologies, including atherosclerosis and Alzheimer's disease (AD).Among bacteria special attention is focused on spirochetes family and on periodontal pathogens such as Porphyromonas gingivalis or Treponema denticola that could cause chronic periodontitis and possibly contribute to the clinical onset of AD.
http://www.ncbi.nlm.nih.gov/pubmed/25454820,http://www.ncbi.nlm.nih.gov/pubmed/26463438
Is deletion at 6q24.2-26 associated with longer survival of patients with high-grade serous ovarian carcinoma (HGSOCs)?
Yes. Loss at 6q24.2-26 was significantly associated with the cluster of longer survival independently from other confounding factors. The prognostic value of this deletion was validated in two independent series, one consisting of 36 HGSOCs analyzed by fluorescent in situ hybridization (P = 0.04) and another comprised of 411 HGSOCs from the Cancer Genome Atlas study (TCGA) (HR = 0.67, 95%CI = 0.48-0.93, Padj = 0.019).
http://www.ncbi.nlm.nih.gov/pubmed/26405107,http://www.ncbi.nlm.nih.gov/pubmed/27914621,http://www.ncbi.nlm.nih.gov/pubmed/26478842
How does the Cholera toxin enter a cell?
Cholera toxin (CT), which is secreted by V. cholerae, can enter host cells by binding to GM1, a monosialoganglioside widely distributed on the plasma membrane surface of various animal epithelial cells.
http://www.ncbi.nlm.nih.gov/pubmed/30153704,http://www.ncbi.nlm.nih.gov/pubmed/29883879,http://www.ncbi.nlm.nih.gov/pubmed/28683469,http://www.ncbi.nlm.nih.gov/pubmed/30090974,http://www.ncbi.nlm.nih.gov/pubmed/27630271,http://www.ncbi.nlm.nih.gov/pubmed/30240327,http://www.ncbi.nlm.nih.gov/pubmed/30362375
Describe the mechanism of action of Lurbinectedin.
Lurbinectedin is a novel highly selective inhibitor of RNA polymerase II triggering caspase-dependent apoptosis of cancerous cells. It inhibits active transcription of protein-coding genes, causing DNA-break accumulation, apoptosis and modulation of the tumor microenvironment.
http://www.ncbi.nlm.nih.gov/pubmed/29298770
Can mogamulizumab be used for the treatment of cutaneous T-cell lymphoma?
Yes, mogamulizumab can be used for the treatment of cutaneous T-cell lymphoma.
http://www.ncbi.nlm.nih.gov/pubmed/30067771,http://www.ncbi.nlm.nih.gov/pubmed/30033575,http://www.ncbi.nlm.nih.gov/pubmed/30094870,http://www.ncbi.nlm.nih.gov/pubmed/29522278,http://www.ncbi.nlm.nih.gov/pubmed/29191916,http://www.ncbi.nlm.nih.gov/pubmed/28388280,http://www.ncbi.nlm.nih.gov/pubmed/29233821,http://www.ncbi.nlm.nih.gov/pubmed/27174919,http://www.ncbi.nlm.nih.gov/pubmed/25912635,http://www.ncbi.nlm.nih.gov/pubmed/28017967,http://www.ncbi.nlm.nih.gov/pubmed/29479062
Which enzymes are inhibited by Duvelisib?
Duvelisib is an oral dual inhibitor of phosphoinositide 3-kinase-δ (PI3K-δ) and PI3K-γ in late-stage clinical development for hematologic malignancy treatment.
http://www.ncbi.nlm.nih.gov/pubmed/28960077,http://www.ncbi.nlm.nih.gov/pubmed/29216772,http://www.ncbi.nlm.nih.gov/pubmed/29993281,http://www.ncbi.nlm.nih.gov/pubmed/27498275
List search engines used in proteomics.
Mascot X!Tandem MS-GF MS Amanda MyriMatch Comet Tide Andromeda OMSSA
http://www.ncbi.nlm.nih.gov/pubmed/29069302,http://www.ncbi.nlm.nih.gov/pubmed/29606979,http://www.ncbi.nlm.nih.gov/pubmed/28864844,http://www.ncbi.nlm.nih.gov/pubmed/28214651,http://www.ncbi.nlm.nih.gov/pubmed/29644490,http://www.ncbi.nlm.nih.gov/pubmed/29416316,http://www.ncbi.nlm.nih.gov/pubmed/29540084,http://www.ncbi.nlm.nih.gov/pubmed/29784744,http://www.ncbi.nlm.nih.gov/pubmed/28982750,http://www.ncbi.nlm.nih.gov/pubmed/29103968,http://www.ncbi.nlm.nih.gov/pubmed/28493171
Is avelumab effective for bladder cancer?
Yes, avelumab is effective treatment of bladder cancer.
http://www.ncbi.nlm.nih.gov/pubmed/27638856,http://www.ncbi.nlm.nih.gov/pubmed/29505843,http://www.ncbi.nlm.nih.gov/pubmed/29059635,http://www.ncbi.nlm.nih.gov/pubmed/29807383,http://www.ncbi.nlm.nih.gov/pubmed/30308081,http://www.ncbi.nlm.nih.gov/pubmed/29283440,http://www.ncbi.nlm.nih.gov/pubmed/30317696,http://www.ncbi.nlm.nih.gov/pubmed/28426123,http://www.ncbi.nlm.nih.gov/pubmed/30039640,http://www.ncbi.nlm.nih.gov/pubmed/30087805,http://www.ncbi.nlm.nih.gov/pubmed/29253194,http://www.ncbi.nlm.nih.gov/pubmed/28703624,http://www.ncbi.nlm.nih.gov/pubmed/29913090,http://www.ncbi.nlm.nih.gov/pubmed/29783126,http://www.ncbi.nlm.nih.gov/pubmed/24700742,http://www.ncbi.nlm.nih.gov/pubmed/28862760,http://www.ncbi.nlm.nih.gov/pubmed/29972759
Is cabozantinib effective for Hepatocellular Carcinoma?
Yes, cabozantinib is approved as second line agent for treatment of Hepatocellular Carcinoma.Yes, cabozantinib effective for hepatocellular carcinoma. Cabozantinib is useful second-line therapy after the failure of sorafenib.
http://www.ncbi.nlm.nih.gov/pubmed/29177435
De novo mutations in which novel genes are involved in systemic lupus erythematosus?
DNMT3A, PRKCD, and C1QTNF4.
http://www.ncbi.nlm.nih.gov/pubmed/29985992
Is there a link between BCL11B haploinsufficiency and syndromic neurodevelopmental delay?
No. Mutations leading either to BCL11B haploinsufficiency or to a truncated BCL11B protein clinically cause a non-syndromic neurodevelopmental delay.
http://www.ncbi.nlm.nih.gov/pubmed/29345064,http://www.ncbi.nlm.nih.gov/pubmed/27702821,http://www.ncbi.nlm.nih.gov/pubmed/29931076,http://www.ncbi.nlm.nih.gov/pubmed/28453702,http://www.ncbi.nlm.nih.gov/pubmed/26928328,http://www.ncbi.nlm.nih.gov/pubmed/27467937,http://www.ncbi.nlm.nih.gov/pubmed/28485332,http://www.ncbi.nlm.nih.gov/pubmed/27810904,http://www.ncbi.nlm.nih.gov/pubmed/26152744
What is the mechanism of action of motolimod?
Motolimod is the toll-like receptor 8 (TLR8) agonist that stimulates innate and adaptive immunity.
http://www.ncbi.nlm.nih.gov/pubmed/29488143,http://www.ncbi.nlm.nih.gov/pubmed/29352859,http://www.ncbi.nlm.nih.gov/pubmed/22430431,http://www.ncbi.nlm.nih.gov/pubmed/22459549,http://www.ncbi.nlm.nih.gov/pubmed/30446595,http://www.ncbi.nlm.nih.gov/pubmed/29563831,http://www.ncbi.nlm.nih.gov/pubmed/20855362,http://www.ncbi.nlm.nih.gov/pubmed/28103158,http://www.ncbi.nlm.nih.gov/pubmed/30323656,http://www.ncbi.nlm.nih.gov/pubmed/29098075
Is Lasmiditan effective for migraine?
Yes, Lasmiditan is effective for treatment of migraine. This has been demonstrated in clinical trials.
http://www.ncbi.nlm.nih.gov/pubmed/29105160,http://www.ncbi.nlm.nih.gov/pubmed/28748198,http://www.ncbi.nlm.nih.gov/pubmed/29533918,http://www.ncbi.nlm.nih.gov/pubmed/27912079,http://www.ncbi.nlm.nih.gov/pubmed/27530904,http://www.ncbi.nlm.nih.gov/pubmed/29059031,http://www.ncbi.nlm.nih.gov/pubmed/25395816,http://www.ncbi.nlm.nih.gov/pubmed/29796595
List drugs included in the TRIUMEQ pill.
Triumeq is a single-tablet regimen for patients with HIV infection comprising dolutegravir, abacavir and lamivudine.
http://www.ncbi.nlm.nih.gov/pubmed/29028902
Are there graph kernel libraries available implemented in JAVA?
No. Measuring the similarity of graphs is a fundamental step in the analysis of graph-structured data, which is omnipresent in computational biology. Graph kernels have been proposed as a powerful and efficient approach to this problem of graph comparison. Graphkernels are the first R and Python graph kernel libraries including baseline kernels such as label histogram based kernels, classic graph kernels such as random walk based kernels, and the state-of-the-art Weisfeiler-Lehman graph kernel. The core of all graph kernels is implemented in C ++ for efficiency. Using the kernel matrices computed by the package, one can perform tasks such as classification, regression and clustering on graph-structured samples.
http://www.ncbi.nlm.nih.gov/pubmed/28460612,http://www.ncbi.nlm.nih.gov/pubmed/20135717,http://www.ncbi.nlm.nih.gov/pubmed/25911041
What organism causes hepatic capillariasis?
Hepatic capillariasis is a rare and neglected parasitic disease caused by infection with Capillaria hepatica in human liver.hepatic capillariasis, caused by the parasite Capillaria hepatica,
http://www.ncbi.nlm.nih.gov/pubmed/28589525,http://www.ncbi.nlm.nih.gov/pubmed/30205177,http://www.ncbi.nlm.nih.gov/pubmed/28890641,http://www.ncbi.nlm.nih.gov/pubmed/29688815
Cerliponase alfa is apprived for treatment of which disease?
Cerliponase alfa is a recombinant human tripeptidyl peptidase-1 (TPP1) approved for use in patients with neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative disease caused by a deficiency in TPP1.
http://www.ncbi.nlm.nih.gov/pubmed/28097393,http://www.ncbi.nlm.nih.gov/pubmed/28440680,http://www.ncbi.nlm.nih.gov/pubmed/24818516,http://www.ncbi.nlm.nih.gov/pubmed/29134891,http://www.ncbi.nlm.nih.gov/pubmed/27427830,http://www.ncbi.nlm.nih.gov/pubmed/30058112,http://www.ncbi.nlm.nih.gov/pubmed/29687421,http://www.ncbi.nlm.nih.gov/pubmed/29500799,http://www.ncbi.nlm.nih.gov/pubmed/30191390,http://www.ncbi.nlm.nih.gov/pubmed/28199814,http://www.ncbi.nlm.nih.gov/pubmed/28290136,http://www.ncbi.nlm.nih.gov/pubmed/30219772,http://www.ncbi.nlm.nih.gov/pubmed/28811354,http://www.ncbi.nlm.nih.gov/pubmed/30006916,http://www.ncbi.nlm.nih.gov/pubmed/29415145,http://www.ncbi.nlm.nih.gov/pubmed/30183607
Is baricitinib effective for rheumatoid arthritis?
Yes, baricitinib is effective treatment of rheumatoid arthritis.
http://www.ncbi.nlm.nih.gov/pubmed/26184161,http://www.ncbi.nlm.nih.gov/pubmed/21543585,http://www.ncbi.nlm.nih.gov/pubmed/29851986,http://www.ncbi.nlm.nih.gov/pubmed/28930534,http://www.ncbi.nlm.nih.gov/pubmed/19622798,http://www.ncbi.nlm.nih.gov/pubmed/24782312,http://www.ncbi.nlm.nih.gov/pubmed/22053002,http://www.ncbi.nlm.nih.gov/pubmed/27440880,http://www.ncbi.nlm.nih.gov/pubmed/28698968
What is the function of PARP1?
parp1 is the most abundant and best-characterized member of the family of parp enzymes. the poly(adp-ribose) polymerases (parps) catalyze poly(adp-ribosyl)ation, a post-translational modification of proteins.parp1 plays key roles in dna repair, as well as a wide variety of cellular processes, including transcriptional regulationPARP1 is an abundant nuclear protein with many pleiotropic functions involved in epigenetic and transcriptional controls. PARP1 plays key roles in DNA repair, as well as a wide variety of cellular processes, including transcriptional regulation, chromatin modulation, cellular signaling pathway, inflammation, cellular stress responses and so on.PARP1 plays key roles in DNA repair, as well as a wide variety of cellular processes, including transcriptional regulation, chromatin modulation, cellular signaling pathway, inflammation, cellular stress responses and so on
http://www.ncbi.nlm.nih.gov/pubmed/27567808,http://www.ncbi.nlm.nih.gov/pubmed/23785331,http://www.ncbi.nlm.nih.gov/pubmed/23883379,http://www.ncbi.nlm.nih.gov/pubmed/23196551,http://www.ncbi.nlm.nih.gov/pubmed/24983746,http://www.ncbi.nlm.nih.gov/pubmed/25292430,http://www.ncbi.nlm.nih.gov/pubmed/21149978,http://www.ncbi.nlm.nih.gov/pubmed/28978478
Is Semagacestat effective for treatment of Alzheimer's disease?
No. In clinical trial semagacestat did not improve cognitive status, and patients receiving the higher dose had significant worsening of functional ability. Semagacestat was associated with more adverse events, including skin cancers and infections.
http://www.ncbi.nlm.nih.gov/pubmed/29266015,http://www.ncbi.nlm.nih.gov/pubmed/29950729,http://www.ncbi.nlm.nih.gov/pubmed/29670690,http://www.ncbi.nlm.nih.gov/pubmed/29860938,http://www.ncbi.nlm.nih.gov/pubmed/30209701,http://www.ncbi.nlm.nih.gov/pubmed/30093505,http://www.ncbi.nlm.nih.gov/pubmed/29934313
Which molecule is inhibited by ivosidenib?
Ivosidenib (AG-120) is an oral, targeted, small-molecule inhibitor of mutant IDH1. It used an effective treatment of leukemia.
http://www.ncbi.nlm.nih.gov/pubmed/16740622
What is COG112?
COG112 is a a modified apoE-mimetic peptide, that results from the fusion of COG133 to a protein transduction domain. COG112 has significantly enhanced anti-inflammatory bioactivities in vitro.
http://www.ncbi.nlm.nih.gov/pubmed/29449508
List the four advances integrated into the SHERLOCKv2 platform.
SHERLOCKv2 presents with four distinct advances: (i) four-channel single-reaction multiplexing with orthogonal CRISPR enzymes; (ii) quantitative measurement of input as low as 2 attomolar; (iii) 3.5-fold increase in signal sensitivity by combining Cas13 with Csm6, an auxiliary CRISPR-associated enzyme; and (iv) lateral-flow readout.
http://www.ncbi.nlm.nih.gov/pubmed/28855134,http://www.ncbi.nlm.nih.gov/pubmed/22099844
Does Rhamnose have any effect on aging?
Yes, Rhamnose does have an effect on aging.
http://www.ncbi.nlm.nih.gov/pubmed/30016770,http://www.ncbi.nlm.nih.gov/pubmed/29247356,http://www.ncbi.nlm.nih.gov/pubmed/29122694,http://www.ncbi.nlm.nih.gov/pubmed/29448843
Is there any approved treatment for NAFLD?
No, Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver disease worldwide, and there is no approved pharmacotherapy.
http://www.ncbi.nlm.nih.gov/pubmed/26497655,http://www.ncbi.nlm.nih.gov/pubmed/29396065,http://www.ncbi.nlm.nih.gov/pubmed/30236511,http://www.ncbi.nlm.nih.gov/pubmed/22374327
Can pazopanib be used for treatment von Hippel-Lindau disease?
Yes, pazopanib is used for treatment von Hippel-Lindau disease.
http://www.ncbi.nlm.nih.gov/pubmed/29358629
Which ploidy-agnostic method has been developed for estimating telomere length from whole genome sequencing data?
Telomerecat is a ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors.
http://www.ncbi.nlm.nih.gov/pubmed/27692431,http://www.ncbi.nlm.nih.gov/pubmed/26581630
What happens to retrotransposons during ageing?
Retrotransposons are activated as organisms age
http://www.ncbi.nlm.nih.gov/pubmed/28101182,http://www.ncbi.nlm.nih.gov/pubmed/27109342
What is the function of Taraxasterol in rheumatoid arthritis?
Taraxasterol suppresses inflammation in rheumatoid arthritis.Protective effect of taraxasterol against rheumatoid arthritis by the modulation of inflammatory responses
http://www.ncbi.nlm.nih.gov/pubmed/21303223,http://www.ncbi.nlm.nih.gov/pubmed/17174565,http://www.ncbi.nlm.nih.gov/pubmed/26039999,http://www.ncbi.nlm.nih.gov/pubmed/28174720,http://www.ncbi.nlm.nih.gov/pubmed/22046354,http://www.ncbi.nlm.nih.gov/pubmed/24174661
Is Netrin-1 a secreted protein?
Yes, netrin-1 is a secreted protein.
http://www.ncbi.nlm.nih.gov/pubmed/29246491,http://www.ncbi.nlm.nih.gov/pubmed/11019848,http://www.ncbi.nlm.nih.gov/pubmed/24798600,http://www.ncbi.nlm.nih.gov/pubmed/8397511,http://www.ncbi.nlm.nih.gov/pubmed/179993,http://www.ncbi.nlm.nih.gov/pubmed/9925650,http://www.ncbi.nlm.nih.gov/pubmed/28659158,http://www.ncbi.nlm.nih.gov/pubmed/28374935,http://www.ncbi.nlm.nih.gov/pubmed/29374495,http://www.ncbi.nlm.nih.gov/pubmed/8864960,http://www.ncbi.nlm.nih.gov/pubmed/29547398,http://www.ncbi.nlm.nih.gov/pubmed/29339442,http://www.ncbi.nlm.nih.gov/pubmed/8576647
Which enzyme is deficient in Wolman disease?
Deficiency of lysosomal acid lipase (LAL) causes Wolman disease.
http://www.ncbi.nlm.nih.gov/pubmed/28348222,http://www.ncbi.nlm.nih.gov/pubmed/28780612
Is the yeast (Saccharomyces cerevisiae) genome organized into topologically associated domains (TADs)?
Yes. By analyzing Hi-C data for budding yeast, 200-kb scale topologically associated domains (TADs) have been identified, whose boundaries are enriched for transcriptional activity.
http://www.ncbi.nlm.nih.gov/pubmed/29266590
What is MOV10?
MOV10 is an RNA helicase
http://www.ncbi.nlm.nih.gov/pubmed/21274438,http://www.ncbi.nlm.nih.gov/pubmed/7997071
As of Feb 2019, are major brain gangliosides a target for the treatment of Alzheimer's disease?
As of Feb 2019, major brain gangliosides are proposed as a target for the treatment of Alzheimer's disease.
http://www.ncbi.nlm.nih.gov/pubmed/28989060,http://www.ncbi.nlm.nih.gov/pubmed/28750141,http://www.ncbi.nlm.nih.gov/pubmed/29052791,http://www.ncbi.nlm.nih.gov/pubmed/28582340,http://www.ncbi.nlm.nih.gov/pubmed/28482112
Which cancer is associated with increased levels of Serum alpha fetoprotein (AFP) ?
Serum alpha fetoprotein (AFP) is a marker of germ cell neoplasms, Serum α-Fetoprotein (AFP) is a widely used diagnostic biomarker, but it has limited sensitivity and is not elevated in all HCC cases.
http://www.ncbi.nlm.nih.gov/pubmed/18989166,http://www.ncbi.nlm.nih.gov/pubmed/9063734,http://www.ncbi.nlm.nih.gov/pubmed/10655551,http://www.ncbi.nlm.nih.gov/pubmed/11579431,http://www.ncbi.nlm.nih.gov/pubmed/2740347,http://www.ncbi.nlm.nih.gov/pubmed/1968707,http://www.ncbi.nlm.nih.gov/pubmed/29858378,http://www.ncbi.nlm.nih.gov/pubmed/29628935,http://www.ncbi.nlm.nih.gov/pubmed/3993677,http://www.ncbi.nlm.nih.gov/pubmed/10406660,http://www.ncbi.nlm.nih.gov/pubmed/7573359,http://www.ncbi.nlm.nih.gov/pubmed/19584063,http://www.ncbi.nlm.nih.gov/pubmed/2903661,http://www.ncbi.nlm.nih.gov/pubmed/27644460,http://www.ncbi.nlm.nih.gov/pubmed/10787042,http://www.ncbi.nlm.nih.gov/pubmed/28380362,http://www.ncbi.nlm.nih.gov/pubmed/23326253,http://www.ncbi.nlm.nih.gov/pubmed/3189330,http://www.ncbi.nlm.nih.gov/pubmed/29707411,http://www.ncbi.nlm.nih.gov/pubmed/21239872,http://www.ncbi.nlm.nih.gov/pubmed/8355785,http://www.ncbi.nlm.nih.gov/pubmed/6834189,http://www.ncbi.nlm.nih.gov/pubmed/3963054,http://www.ncbi.nlm.nih.gov/pubmed/28186603
Is Miller-Dieker syndrome associated with abnormalities of chromosome 1?
No. Miller-Dieker syndrome is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE and leads to malformations during cortical development.
http://www.ncbi.nlm.nih.gov/pubmed/29540340
List clinical symptoms of the MECOM-associated syndrome
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. The clinical picture included radioulnar synostosis, bone marrow failure, clinodactyly, cardiac and renal malformations, B-cell deficiency, and presenile hearing loss. No single clinical manifestation was detected in all patients affected by MECOM mutations. Radioulnar synostosis and B-cell deficiency were observed only in patients with mutations affecting a short region in the C-terminal zinc finger domain of EVI1.
http://www.ncbi.nlm.nih.gov/pubmed/29315404
Does the interaction of MOV10 and RNASEH2 promote L1 retrotransposition?
MOV10 interacts with RNASEH2, and their interplay is crucial for restricting L1 retrotransposition.
http://www.ncbi.nlm.nih.gov/pubmed/24022021,http://www.ncbi.nlm.nih.gov/pubmed/21931534,http://www.ncbi.nlm.nih.gov/pubmed/30404186
What is the role of CD28 with respect to bacterial superantigen toxins?
CD28 is a direct receptor of bacterial superantigen toxins.cd28 is a homodimer expressed on t cells that functions as the principal costimulatory ligand in the immune response
http://www.ncbi.nlm.nih.gov/pubmed/28137564,http://www.ncbi.nlm.nih.gov/pubmed/29233035,http://www.ncbi.nlm.nih.gov/pubmed/29419372
What is the exoproteome?
Exoproteomics aims at describing and quantifying the proteins found outside of the cells.
http://www.ncbi.nlm.nih.gov/pubmed/30069287,http://www.ncbi.nlm.nih.gov/pubmed/26354489,http://www.ncbi.nlm.nih.gov/pubmed/29874194,http://www.ncbi.nlm.nih.gov/pubmed/18551317,http://www.ncbi.nlm.nih.gov/pubmed/12530689,http://www.ncbi.nlm.nih.gov/pubmed/29255950,http://www.ncbi.nlm.nih.gov/pubmed/21656342,http://www.ncbi.nlm.nih.gov/pubmed/27895694,http://www.ncbi.nlm.nih.gov/pubmed/22000320,http://www.ncbi.nlm.nih.gov/pubmed/11196451,http://www.ncbi.nlm.nih.gov/pubmed/12429595,http://www.ncbi.nlm.nih.gov/pubmed/11815731,http://www.ncbi.nlm.nih.gov/pubmed/23691407,http://www.ncbi.nlm.nih.gov/pubmed/12752575,http://www.ncbi.nlm.nih.gov/pubmed/15666842,http://www.ncbi.nlm.nih.gov/pubmed/16970037
List features of the Triple A syndrome.
Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy.
http://www.ncbi.nlm.nih.gov/pubmed/29071385,http://www.ncbi.nlm.nih.gov/pubmed/25852060,http://www.ncbi.nlm.nih.gov/pubmed/29270134,http://www.ncbi.nlm.nih.gov/pubmed/26797128,http://www.ncbi.nlm.nih.gov/pubmed/27030010,http://www.ncbi.nlm.nih.gov/pubmed/20442301,http://www.ncbi.nlm.nih.gov/pubmed/20947701,http://www.ncbi.nlm.nih.gov/pubmed/26895471
What is the mechanism of the drug CRT0066101?
Recently developed small molecule PKD inhibitors, CID755673 and CRT0066101, provide potentially important pharmacological approaches to further investigate the effect of PKD in pancreatitis therapyCRT0066101 inhibits protein kinase D
http://www.ncbi.nlm.nih.gov/pubmed/30401654,http://www.ncbi.nlm.nih.gov/pubmed/22326460,http://www.ncbi.nlm.nih.gov/pubmed/26794447,http://www.ncbi.nlm.nih.gov/pubmed/15899861,http://www.ncbi.nlm.nih.gov/pubmed/27320914
Which protein is the Mitochondrial carrier homolog 2 (MTCH2) receptor for?
Mitochondrial Carrier Homolog 2 (MTCH2) acts as a receptor for the BH3 interacting-domain death agonist (BID) in the mitochondrial outer membrane.
http://www.ncbi.nlm.nih.gov/pubmed/26251998
What is PhenomeCentral?
The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. The PhenomeCentral portal (https://phenomecentral.org) enables the secure sharing of case records by clinicians and rare disease scientists. PhenomeCentral identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users, enabling both hypothesis-free and hypothesis-driven matchmaking. Users can then contact other submitters to follow up on promising matches. PhenomeCentral incorporates data for over 1,000 patients with rare genetic diseases, contributed by the FORGE and Care4Rare Canada projects, the US NIH Undiagnosed Diseases Program, the EU Neuromics and ANDDIrare projects, as well as numerous independent clinicians and scientists. Though the majority of these records have associated exome data, most lack a molecular diagnosis. PhenomeCentral has already been used to identify causative mutations for several patients, and its ability to find matching patients and diagnose these diseases will grow with each additional patient that is entered.
http://www.ncbi.nlm.nih.gov/pubmed/24050079,http://www.ncbi.nlm.nih.gov/pubmed/28730571,http://www.ncbi.nlm.nih.gov/pubmed/9250779,http://www.ncbi.nlm.nih.gov/pubmed/20204066,http://www.ncbi.nlm.nih.gov/pubmed/16126275,http://www.ncbi.nlm.nih.gov/pubmed/21956758,http://www.ncbi.nlm.nih.gov/pubmed/28166691,http://www.ncbi.nlm.nih.gov/pubmed/30328643,http://www.ncbi.nlm.nih.gov/pubmed/30413440,http://www.ncbi.nlm.nih.gov/pubmed/27818548,http://www.ncbi.nlm.nih.gov/pubmed/15765316,http://www.ncbi.nlm.nih.gov/pubmed/3579687,http://www.ncbi.nlm.nih.gov/pubmed/23035165
What organism causes Rhombencephalitis?
Rhombencephalitis caused by Listeria monocytogenesRhombencephalitis is caused by Listeria monocytogenes
http://www.ncbi.nlm.nih.gov/pubmed/25794641,http://www.ncbi.nlm.nih.gov/pubmed/28776959
Has the protein SIRT2 been associated to cervical cancer?
Yes. A progressive increase in the expression of both SIRT2 and SIRT7 was noted during cancer progression in the following order: normal < preneoplasia < cancer.
http://www.ncbi.nlm.nih.gov/pubmed/29406534,http://www.ncbi.nlm.nih.gov/pubmed/28835404,http://www.ncbi.nlm.nih.gov/pubmed/29263689,http://www.ncbi.nlm.nih.gov/pubmed/28736918,http://www.ncbi.nlm.nih.gov/pubmed/29432219,http://www.ncbi.nlm.nih.gov/pubmed/30360965,http://www.ncbi.nlm.nih.gov/pubmed/29691490,http://www.ncbi.nlm.nih.gov/pubmed/28460892,http://www.ncbi.nlm.nih.gov/pubmed/28644160,http://www.ncbi.nlm.nih.gov/pubmed/29471679,http://www.ncbi.nlm.nih.gov/pubmed/29171821,http://www.ncbi.nlm.nih.gov/pubmed/29697153,http://www.ncbi.nlm.nih.gov/pubmed/30409109,http://www.ncbi.nlm.nih.gov/pubmed/29968151,http://www.ncbi.nlm.nih.gov/pubmed/29878340,http://www.ncbi.nlm.nih.gov/pubmed/30086681
Which receptor is targeted by Erenumab?
Erenumab is a human monoclonal antibody that inhibits the calcitonin gene-related peptide receptor, is being evaluated for migraine prevention.
http://www.ncbi.nlm.nih.gov/pubmed/30409806
Are recessive coding variants responsible for the majority of undiagnosed nonconsanguineous individuals?
No. It is suggested that recessive coding variants account for a small fraction of currently undiagnosed nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.
http://www.ncbi.nlm.nih.gov/pubmed/26438538
How can super-enhancers be used in disease diagnosis?
Super-enhancers are clusters of transcriptional enhancers that drive cell-type-specific gene expression and are crucial to cell identity. Many disease-associated sequence variations are enriched in super-enhancer regions of disease-relevant cell types. Thus, super-enhancers can be used as potential biomarkers for disease diagnosis and therapeutics. Current studies have identified super-enhancers in more than 100 cell types and demonstrated their functional importance.
http://www.ncbi.nlm.nih.gov/pubmed/30066578,http://www.ncbi.nlm.nih.gov/pubmed/29330215,http://www.ncbi.nlm.nih.gov/pubmed/28254776,http://www.ncbi.nlm.nih.gov/pubmed/26722027,http://www.ncbi.nlm.nih.gov/pubmed/29235227,http://www.ncbi.nlm.nih.gov/pubmed/29659581
List sirtuin inhibitors.
Sirtinol nicotinamide (NAM) LC-0296 BZD9L1
http://www.ncbi.nlm.nih.gov/pubmed/28231809
Is the NLM medical text indexer (MTI) still useful and relevant?
Yes. The NLM Medical Text Indexer (MTI) is still relevant and useful, and needs to be improved and expanded. The BioASQ Challenge results have shown that more machine learning needs to be incorporated into MTI while still retaining the indexing rules that have earned MTI the indexers' trust over the years. MTI also needs to be expanded through the use of full text, when and where it is available, to provide coverage of indexing terms that are typically only found in the full text.
http://www.ncbi.nlm.nih.gov/pubmed/29625577
Has strimvelis been approved by the European Medicines Agency?
Yes, the gene therapy Strimvelis has been approved by the European Medicines Agency.
http://www.ncbi.nlm.nih.gov/pubmed/27601193,http://www.ncbi.nlm.nih.gov/pubmed/28009682
What antibiotic is currently used as the standard of care for Clostridium Difficile infection as of 2018
fidaxomicin has recently been introduced as a new antibiotic that has been shown to significantly reduce the recurrence of this infection. fidaxomicin is a new antibiotic used to treat clostridium difficile infection (cdi).Fidaxomicin has recently been introduced as a new antibiotic that has been shown to significantly reduce the recurrence of this infection. Fidaxomicin is a new antibiotic used to treat Clostridium difficile infection (CDI).Fidaxomicin has recently been introduced as a new antibiotic that has been shown to significantly reduce the recurrence of this infection.Fidaxomicin is a new antibiotic used to treat Clostridium difficile infection (CDI)Clostridium difficile continues to be one of the most prevalent hospital-acquired bacterial infections in the developed world, despite the recent introduction of a novel and effective antibiotic agent fidaxomicin
http://www.ncbi.nlm.nih.gov/pubmed/28811834,http://www.ncbi.nlm.nih.gov/pubmed/16445657,http://www.ncbi.nlm.nih.gov/pubmed/18202795,http://www.ncbi.nlm.nih.gov/pubmed/25708613,http://www.ncbi.nlm.nih.gov/pubmed/27739439
Which proteins are markers of HPV oncogenic activity?
p16INK4a (p16) tumor-suppressor protein is a biomarker of human papillomavirus (HPV) oncogenic activity that has revealed a high rate of positivity in histological high-gade squamous intraepithelial lesion/cervical intraepithelial neoplasia grade 2 (HSIL/CIN2) lesions.
http://www.ncbi.nlm.nih.gov/pubmed/21466499,http://www.ncbi.nlm.nih.gov/pubmed/28850302,http://www.ncbi.nlm.nih.gov/pubmed/29282234,http://www.ncbi.nlm.nih.gov/pubmed/23183686,http://www.ncbi.nlm.nih.gov/pubmed/25727823
Which features are evaluated with the CRAFFT screening test?
The CRAFFT (Car, Relax, Alone, Forget, Friends, Trouble) was developed as a brief screening instrument for adolescents to measure Alcohol and other substance use disorders.
http://www.ncbi.nlm.nih.gov/pubmed/29069318
Describe the bartender algorithm
Barcode sequencing (bar-seq) is a high-throughput, and cost effective method to assay large numbers of cell lineages or genotypes in complex cell pools. Because of its advantages, applications for bar-seq are quickly growing-from using neutral random barcodes to study the evolution of microbes or cancer, to using pseudo-barcodes, such as shRNAs or sgRNAs to simultaneously screen large numbers of cell perturbations. Bartender is an accurate clustering algorithm to detect barcodes and their abundances from raw next-generation sequencing data. It comprises a set of simple-to-use command line tools that can be performed on a laptop at comparable run times to existing methods. Bartender is available at no charge for non-commercial use at https://github.com/LaoZZZZZ/bartender-1.1
http://www.ncbi.nlm.nih.gov/pubmed/28284702
Which was the first gene therapy to receive marketing authorization in the European Union?
The first gene therapy to receive marketing authorization in the European Union was Glybera (alipogene tiparvovec).
http://www.ncbi.nlm.nih.gov/pubmed/29673806,http://www.ncbi.nlm.nih.gov/pubmed/11989131,http://www.ncbi.nlm.nih.gov/pubmed/17945285,http://www.ncbi.nlm.nih.gov/pubmed/28916862,http://www.ncbi.nlm.nih.gov/pubmed/19918272,http://www.ncbi.nlm.nih.gov/pubmed/1732628,http://www.ncbi.nlm.nih.gov/pubmed/3892051,http://www.ncbi.nlm.nih.gov/pubmed/3892050,http://www.ncbi.nlm.nih.gov/pubmed/29362915,http://www.ncbi.nlm.nih.gov/pubmed/17997439,http://www.ncbi.nlm.nih.gov/pubmed/21541499,http://www.ncbi.nlm.nih.gov/pubmed/12031870,http://www.ncbi.nlm.nih.gov/pubmed/16813873,http://www.ncbi.nlm.nih.gov/pubmed/2231917,http://www.ncbi.nlm.nih.gov/pubmed/2359181,http://www.ncbi.nlm.nih.gov/pubmed/6757467,http://www.ncbi.nlm.nih.gov/pubmed/19758621,http://www.ncbi.nlm.nih.gov/pubmed/6381762
Is treatment with Bacillus Calmette Guerin used for bladder cancer?
Intravesical Bacillus Calmette-Guerin (BCG) is the best treatment modality for progression of non-muscle invasive bladder cancer.
http://www.ncbi.nlm.nih.gov/pubmed/29516957,http://www.ncbi.nlm.nih.gov/pubmed/29935030,http://www.ncbi.nlm.nih.gov/pubmed/29466232
List lymphocytes that are analyzed by a flow cytometer.
Quantitation of lymphocyte subsets (B cells, T cells, CD4 and CD8 T cells and NK cells) classically relies on quantitation of lymphocytes and immunophenotyping by flow cytometry.
http://www.ncbi.nlm.nih.gov/pubmed/25516691,http://www.ncbi.nlm.nih.gov/pubmed/26613606,http://www.ncbi.nlm.nih.gov/pubmed/29547597,http://www.ncbi.nlm.nih.gov/pubmed/27473611
List two drugs that are included in the Akynzeo pill?
Akynzeo is an oral fixed combination of netupitant and palonosetron that is available for use in the prevention of acute and delayed chemotherapy-induced nausea and vomiting (CINV).
http://www.ncbi.nlm.nih.gov/pubmed/29092025
Describe CapSim
CapSim is a software package for simulation of targeted capture sequencing. Given a genome sequence and a set of probes, CapSim simulates the fragmentation, the dynamics of probe hybridization and the sequencing of the captured fragments on Illumina and PacBio sequencing platforms. The simulated data can be used for evaluating the performance of the analysis pipeline, as well as the efficiency of the probe design. Parameters of the various stages in the sequencing process can also be evaluated in order to optimize the experiments.Availability and implementation: CapSim is publicly available under BSD license at https://github.com/Devika1/capsim.
http://www.ncbi.nlm.nih.gov/pubmed/27762892
Which company produces Glybera?
Glybera is a product of Chiesi Pharma.
http://www.ncbi.nlm.nih.gov/pubmed/15667975,http://www.ncbi.nlm.nih.gov/pubmed/30312728,http://www.ncbi.nlm.nih.gov/pubmed/12560233,http://www.ncbi.nlm.nih.gov/pubmed/17350598
What is the mode of action of Tetrocarcin-A?
The anti-tumor antibiotic, tetrocarcin A, directly induces apoptosis of human breast cancer cells.
http://www.ncbi.nlm.nih.gov/pubmed/27571098,http://www.ncbi.nlm.nih.gov/pubmed/29748506,http://www.ncbi.nlm.nih.gov/pubmed/26598580
List some substances important for proper nervous system function that gut microbes produce.
serotonin gamma-aminobutyric acid short-chain fatty acids neurotransmitters
http://www.ncbi.nlm.nih.gov/pubmed/29760163,http://www.ncbi.nlm.nih.gov/pubmed/29670409,http://www.ncbi.nlm.nih.gov/pubmed/28110399,http://www.ncbi.nlm.nih.gov/pubmed/30271159,http://www.ncbi.nlm.nih.gov/pubmed/30142650,http://www.ncbi.nlm.nih.gov/pubmed/27802242,http://www.ncbi.nlm.nih.gov/pubmed/30291173,http://www.ncbi.nlm.nih.gov/pubmed/29441484,http://www.ncbi.nlm.nih.gov/pubmed/29167350,http://www.ncbi.nlm.nih.gov/pubmed/25851099,http://www.ncbi.nlm.nih.gov/pubmed/29339106,http://www.ncbi.nlm.nih.gov/pubmed/26587996
Safinamide is approved for treatment of which disease?
Safinamide is a monoamine-oxidase B (MAO-B) inhibitor licensed as add-on therapy for people with idiopathic Parkinson's disease who are experiencing motor fluctuations with levodopa.
http://www.ncbi.nlm.nih.gov/pubmed/23677804
What is the tradename of apixaban?
The tradename of apixaban is Eliquis.
http://www.ncbi.nlm.nih.gov/pubmed/29040384
Under which environment does SELANSI run?
SELANSI (SEmi-LAgrangian SImulation of GRNs) is a software toolbox for the simulation of stochastic multidimensional gene regulatory networks. SELANSI exploits intrinsic structural properties of gene regulatory networks to accurately approximate the corresponding Chemical Master Equation with a partial integral differential equation that is solved by a semi-lagrangian method with high efficiency. SELANSI runs under the MATLAB environment, and is available under GPLv3 license at https://sites.google.com/view/selansi.matlab environment
http://www.ncbi.nlm.nih.gov/pubmed/28010051,http://www.ncbi.nlm.nih.gov/pubmed/29337452,http://www.ncbi.nlm.nih.gov/pubmed/23512355,http://www.ncbi.nlm.nih.gov/pubmed/29266249,http://www.ncbi.nlm.nih.gov/pubmed/23945282,http://www.ncbi.nlm.nih.gov/pubmed/29435915,http://www.ncbi.nlm.nih.gov/pubmed/29655452,http://www.ncbi.nlm.nih.gov/pubmed/29066163
Is eculizumab used for treatment of myasthenia gravis?
Yes, eculizumab is used for treatment of myasthenia gravis.
http://www.ncbi.nlm.nih.gov/pubmed/29700266
What is the name of the Cas13 based diagnostic test for the Zika and dengue viruses?
The Cas13-based platform that can detect Zika and dengue viruses is called SHERLOCK (specific high-sensitivity enzymatic reporter unlocking).
http://www.ncbi.nlm.nih.gov/pubmed/29449511
What are CRISPR-Cas12a proteins?
CRISPR-Cas12a (Cpf1) proteins are RNA-guided enzymes that bind and cut DNA as components of bacterial adaptive immune systems. Like CRISPR-Cas9, Cas12a has been harnessed for genome editing on the basis of its ability to generate targeted, double-stranded DNA breaks. RNA-guided DNA binding unleashes indiscriminate single-stranded DNA (ssDNA) cleavage activity by Cas12a that completely degrades ssDNA molecules
http://www.ncbi.nlm.nih.gov/pubmed/27653758
What type of drug is apixaban?
Apixaban is an anticoagulant.
http://www.ncbi.nlm.nih.gov/pubmed/29999590
Can cardiospheres be produced from skin fibroblasts?
Yes, induced cardiospheres (iCS) can be produced by somatic reprogramming of mouse fibroblasts using a panel of pluripotent transcription factors and cardiotrophic growth factors.
http://www.ncbi.nlm.nih.gov/pubmed/23239541,http://www.ncbi.nlm.nih.gov/pubmed/15852040,http://www.ncbi.nlm.nih.gov/pubmed/28571721,http://www.ncbi.nlm.nih.gov/pubmed/19222835,http://www.ncbi.nlm.nih.gov/pubmed/28127865,http://www.ncbi.nlm.nih.gov/pubmed/15666301,http://www.ncbi.nlm.nih.gov/pubmed/20140962,http://www.ncbi.nlm.nih.gov/pubmed/26333423,http://www.ncbi.nlm.nih.gov/pubmed/22822387,http://www.ncbi.nlm.nih.gov/pubmed/25653495
What the chromsomal location of the gene that is deleted in Potocki-Shaffer syndrome?
In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome caused by heterozygous deletion of 11p11.2p12.
http://www.ncbi.nlm.nih.gov/pubmed/28366569,http://www.ncbi.nlm.nih.gov/pubmed/28707191,http://www.ncbi.nlm.nih.gov/pubmed/28232034,http://www.ncbi.nlm.nih.gov/pubmed/12825250,http://www.ncbi.nlm.nih.gov/pubmed/2115017
List 3 enterotoxins produced by Clostridium difficile.
Toxin A (TcdA), toxin B (TcdB), and binary toxin (CDT) produced by Clostridium difficile (CD)
http://www.ncbi.nlm.nih.gov/pubmed/28756250,http://www.ncbi.nlm.nih.gov/pubmed/29734265
Which tissue secretes vaspin?
Visceral adipose tissue-derived serine protease inhibitor (Vaspin) is an adipocytokine that has been shown to exert anti-inflammatory effects and inhibits apoptosis under diabetic conditions.
http://www.ncbi.nlm.nih.gov/pubmed/27629594,http://www.ncbi.nlm.nih.gov/pubmed/28877872,http://www.ncbi.nlm.nih.gov/pubmed/28857629,http://www.ncbi.nlm.nih.gov/pubmed/28393393
List adipokines.
adiponectin leptin resistin
http://www.ncbi.nlm.nih.gov/pubmed/12457410,http://www.ncbi.nlm.nih.gov/pubmed/7808978,http://www.ncbi.nlm.nih.gov/pubmed/8256819,http://www.ncbi.nlm.nih.gov/pubmed/15279406,http://www.ncbi.nlm.nih.gov/pubmed/19830001,http://www.ncbi.nlm.nih.gov/pubmed/18263975,http://www.ncbi.nlm.nih.gov/pubmed/21743113,http://www.ncbi.nlm.nih.gov/pubmed/17994565
List features of the DOOR syndrome.
DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation.