A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
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DelPhi: a comprehensive suite for DelPhi software and associated resourcesAnalyzing effects of naturally occurring missense mutationsXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingStructural and physico-chemical effects of disease and non-disease nsSNPs on proteinsMolecular mechanisms of disease-causing missense mutationsMutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspectiveEnhancing human spermine synthase activity by engineered mutationsP.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.Predicting folding free energy changes upon single point mutationsSAAMBE: Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations.Using DelPhi capabilities to mimic protein's conformational reorganization with amino acid specific dielectric constants.On human disease-causing amino acid variants: statistical study of sequence and structural patterns.A rational free energy-based approach to understanding and targeting disease-causing missense mutationsComputational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.Increased susceptibility to structural acute kidney injury in a mouse model of presymptomatic cardiomyopathy.Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.Cyclin-dependent kinase 5-mediated phosphorylation of chloride intracellular channel 4 promotes oxidative stress-induced neuronal deathAdvances in Human Biology: Combining Genetics and Molecular Biophysics to Pave the Way for Personalized Diagnostics and Medicine
P2860
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P2860
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@ast
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@en
type
label
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@ast
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@en
prefLabel
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@ast
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@en
P2093
P2860
P356
P1433
P1476
A missense mutation in CLIC2 a ...... rotein stability and dynamics.
@en
P2093
Charles Schwartz
Emil Alexov
Kyoko Takano
Shawn Witham
P2860
P304
P356
10.1002/PROT.23065
P407
P577
2011-05-31T00:00:00Z