New Insights into Psychostimulant Actions from Human Gene Variants and Knockout Mice

2000 ◽  
Vol 46 (5) ◽  
pp. 329-330
Keyword(s):  
Knockout Mice ◽  
Human Gene ◽  
Gene Variants

FOUR HUMAN GENE VARIANTS PREDICT THE ANTIHYPERTENSIVE ACTIVITY OF ROSTAFUROXIN, A SELECTIVE INHIBITOR OF THEIR EFFECTS ON THE NA, K PUMP: PP.21.316

2010 ◽  
Vol 28 ◽  
pp. e342
Author(s):  
L Citterio ◽  
C Lanzani ◽  
S Delli Carpini ◽  
E Salvi ◽  
M Ferrandi ◽  
...  
Keyword(s):  
Human Gene ◽  
Selective Inhibitor ◽  
Antihypertensive Activity ◽  
Gene Variants

scholarly journals KEGG: integrating viruses and cellular organisms

2020 ◽  
Vol 49 (D1) ◽  
pp. D545-D551 ◽  
Author(s):  
Minoru Kanehisa ◽  
Miho Furumichi ◽  
Yoko Sato ◽  
Mari Ishiguro-Watanabe ◽  
Mao Tanabe
Keyword(s):  
Kegg Pathway ◽  
Human Gene ◽  
Building Blocks ◽  
Molecular Networks ◽  
Gene Variants ◽  
Genome Sequences ◽  
Network Systems ◽  
Network Database ◽  
Molecular Building Blocks ◽  
Functional Orthologs

Abstract KEGG (https://www.kegg.jp/) is a manually curated resource integrating eighteen databases categorized into systems, genomic, chemical and health information. It also provides KEGG mapping tools, which enable understanding of cellular and organism-level functions from genome sequences and other molecular datasets. KEGG mapping is a predictive method of reconstructing molecular network systems from molecular building blocks based on the concept of functional orthologs. Since the introduction of the KEGG NETWORK database, various diseases have been associated with network variants, which are perturbed molecular networks caused by human gene variants, viruses, other pathogens and environmental factors. The network variation maps are created as aligned sets of related networks showing, for example, how different viruses inhibit or activate specific cellular signaling pathways. The KEGG pathway maps are now integrated with network variation maps in the NETWORK database, as well as with conserved functional units of KEGG modules and reaction modules in the MODULE database. The KO database for functional orthologs continues to be improved and virus KOs are being expanded for better understanding of virus-cell interactions and for enabling prediction of viral perturbations.

scholarly journals Human Gene Variants Linked to Enhanced NLRP3 Activity Limit Intramacrophage Growth of Mycobacterium tuberculosis

2013 ◽  
Vol 209 (5) ◽  
pp. 749-753 ◽  
Author(s):  
Daniel Eklund ◽  
Amanda Welin ◽  
Henrik Andersson ◽  
Deepti Verma ◽  
Peter Söderkvist ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Human Gene ◽  
Gene Variants ◽  
Nlrp3 Activity

scholarly journals Annotation of Human Exome Gene Variants with Consensus Pathogenicity

2020 ◽  
Author(s):  
Victor Zharavin ◽  
James Balmford ◽  
Patrick Metzger ◽  
Melanie Boerries ◽  
Harald Binder ◽  
...  
Keyword(s):  
Prediction Models ◽  
Human Gene ◽  
Gene Variants ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Functional Conservation ◽  
Mutation Impact ◽  
Uncertain Significance ◽  
Direct Use ◽  
Variant Effect Prediction

Pathogenicity is unknown for the majority of human gene variants. For prioritization of sequenced somatic and germline mutation variants, in silico approaches can be utilized. In this study, 84 million non-synonymous Single Nucleotide Variants (SNVs) in the human coding genome were annotated using consensus Variant Effect Prediction (cVEP) method. An algorithm, implemented as a stacked ensemble of supervised learners, performed combination of the 39 functional, conservation mutation impact scores from dbNSFP4.0. Adding gene indispensability score, accounting for differences in the pathogenicities of the variants in the essential and the mutation-tolerant genes, improved the predictions. For each SNV the consensus combination gives either a continuous-value pathogenicity score, or a categorical score in five classes: pathogenic, likely pathogenic, uncertain significance, likely benign, benign. The provided class database is aimed for direct use in clinical practice. The trained prediction models were 5-fold cross-validated on the evidence-based categorical annotations from the ClinVar database. The rankings of the scores based on their ability to predict pathogenicity were obtained. A two-step strategy using the rankings, scores and class annotations is suggested for filtering and prioritization of the human exome mutations in clinical and biological applications of NGS technology.

Heat stable toxin of E. coli (STa) stimulates duodenal mucosal bicarbonate secretion in cystic fibrosis knockout mice

2001 ◽  
Vol 120 (5) ◽  
pp. A137-A137
Author(s):  
D CHILDS ◽  
D CROMBIE ◽  
V PRATHA ◽  
Z SELLERS ◽  
D HOGAN ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Knockout Mice ◽  
Bicarbonate Secretion ◽  
E Coli ◽  
Heat Stable

Sa1495 LEPTIN AUGMENTS BILIARY HYPERPLASIA AND HEPATIC FIBROSIS IN MDR2-KNOCKOUT MICE

2020 ◽  
Vol 158 (6) ◽  
pp. S-1310
Author(s):  
Rebekah John ◽  
Anca D. Petrescu ◽  
Stephanie Grant ◽  
Elaina Williams ◽  
Sharon DeMorrow
Keyword(s):  
Hepatic Fibrosis ◽  
Knockout Mice

Gene Variants Linked to Lipoprotein and Heart Disease

2010 ◽  
Vol 43 (2) ◽  
pp. 19
Author(s):  
MARY ANN MOON
Keyword(s):  
Heart Disease ◽  
Gene Variants

Abstract #219: Evidence of Insulitis in Signal Transducer and Activator of Transcription 5 (Stat5) Knockout Mice

2017 ◽  
Vol 23 ◽  
pp. 39
Author(s):  
Aili Guo ◽  
Nigel Daniels ◽  
Craig Nunemaker ◽  
Samantha J. Shaw ◽  
Karen Coschigano
Keyword(s):  
Knockout Mice ◽  
Signal Transducer

Xpa and Xpa/p53 +/- Knockout Mice: Overview of Available Data

2001 ◽  
Vol 29 (5) ◽  
pp. 117-127 ◽  
Author(s):  
Coen F. van Kreijl ◽  
Peter A. McAnulty ◽  
Rudolf B. Beems ◽  
An Vynckier ◽  
Harry van Steeg ◽  
...  
Keyword(s):  
Knockout Mice
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