Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.
about
Accelerated FoxP2 evolution in echolocating batsDirect measure of the de novo mutation rate in autism and schizophrenia cohortsMultigene testing of moderate-risk genes: be mindful of the missenseOrthology prediction at scalable resolution by phylogenetic tree analysisAnalysis of genetic variation and potential applications in genome-scale metabolic modelingPhysicochemical characterization and functional site analysis of lactoferrin gene of Vechur cowAdaptive evolution of Leptin in heterothermic batsSpectrum of heart disease associated with murine and human GATA4 mutationHypoxia adaptations in the grey wolf (Canis lupus chanco) from Qinghai-Tibet PlateauMolecular evolution of the hyaluronan synthase 2 gene in mammals: implications for adaptations to the subterranean niche and cancer resistanceThe voltage-gated potassium channel subfamily KQT member 4 (KCNQ4) displays parallel evolution in echolocating bats.Using bioinformatics to predict the functional impact of SNVsThe hearing gene Prestin reunites echolocating bats.Exome analysis reveals differentially mutated gene signatures of stage, grade and subtype in breast cancers.Computational approaches to study the effects of small genomic variations.Human allelic variation: perspective from protein function, structure, and evolution.Disease risk of missense mutations using structural inference from predicted functionIdentification of functional genetic variation in exome sequence analysisImpact of genetic variation on three dimensional structure and function of proteins.Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models.AlloRep: A Repository of Sequence, Structural and Mutagenesis Data for the LacI/GalR Transcription RegulatorsPredicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machinesDomain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers.ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses.The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural dataContrasting patterns of selective constraints in nuclear-encoded genes of the oxidative phosphorylation pathway in holometabolous insects and their possible role in hybrid breakdown in Nasonia.Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomesMutation-selection models of coding sequence evolution with site-heterogeneous amino acid fitness profiles.Penalized regression for genome-wide association screening of sequence dataEFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome.A population genetic approach to mapping neurological disorder genes using deep resequencing.Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnosticsSequencing studies in human genetics: design and interpretation.Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.Discovering functional DNA elements using population genomic information: a proof of concept using human mtDNA.Quality control issues and the identification of rare functional variants with next-generation sequencing data.A protein sequence meta-functional signature for calcium binding residue prediction.Prioritizing single-nucleotide variations that potentially regulate alternative splicing.
P2860
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P2860
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Physicochemical constraint vio ...... function and disease severity.
@en
Physicochemical constraint vio ...... function and disease severity.
@nl
type
label
Physicochemical constraint vio ...... function and disease severity.
@en
Physicochemical constraint vio ...... function and disease severity.
@nl
prefLabel
Physicochemical constraint vio ...... function and disease severity.
@en
Physicochemical constraint vio ...... function and disease severity.
@nl
P2860
P356
P1433
P1476
Physicochemical constraint vio ...... function and disease severity.
@en
P2093
Arend Sidow
Eric A Stone
P2860
P304
P356
10.1101/GR.3804205
P577
2005-06-17T00:00:00Z