Loss of protein structure stability as a major causative factor in monogenic disease.
about
Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitutionAdvances in translational bioinformatics: computational approaches for the hunting of disease genesA unifying theory for general multigenic heterosis: energy efficiency, protein metabolism, and implications for molecular breedingStructural Impact of Three Parkinsonism-Associated Missense Mutations on Human DJ-1 † , ‡Structures of p63 DNA binding domain in complexes with half-site and with spacer-containing full response elementsInduced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyFunctional impact of missense variants in BRCA1 predicted by supervised learningA multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome)Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseasesBioinformatics for personal genome interpretationUsing bioinformatics to predict the functional impact of SNVsOutcome of a workshop on applications of protein models in biomedical researchImpaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiencySNPs3D: candidate gene and SNP selection for association studies.Status quo of annotation of human disease variants.Protein interactions in human genetic diseases.Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.Conformational dynamics of nonsynonymous variants at protein interfaces reveals disease association.Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association StudiesComputational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.Characterizing the Diverse Mutational Pathways Associated with R5-Tropic Maraviroc Resistance: HIV-1 That Uses the Drug-Bound CCR5 Coreceptor.Automated inference of molecular mechanisms of disease from amino acid substitutions.Structural imperatives impose diverse evolutionary constraints on helical membrane proteinsProtein Destabilization as a Common Factor in Diverse Inherited Disorders.In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genesAssessment of refinement of template-based models in CASP11.Biological function derived from predicted structures in CASP11.Human allelic variation: perspective from protein function, structure, and evolution.In silico structure-function analysis of pathological variation in the HSD11B2 gene sequenceDisease risk of missense mutations using structural inference from predicted functionSixty-five years of the long march in protein secondary structure prediction: the final stretch?Predicting disease-associated substitution of a single amino acid by analyzing residue interactions.Meet me halfway: when genomics meets structural bioinformatics.Structural and functional impact of cancer-related missense somatic mutations.Correlating disease-related mutations to their effect on protein stability: a large-scale analysis of the human proteome.Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.Modeling coding-sequence evolution within the context of residue solvent accessibility.Disease-associated mutations disrupt functionally important regions of intrinsic protein disorderInterpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining.
P2860
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P2860
Loss of protein structure stability as a major causative factor in monogenic disease.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
Loss of protein structure stability as a major causative factor in monogenic disease.
@ast
Loss of protein structure stability as a major causative factor in monogenic disease.
@en
type
label
Loss of protein structure stability as a major causative factor in monogenic disease.
@ast
Loss of protein structure stability as a major causative factor in monogenic disease.
@en
prefLabel
Loss of protein structure stability as a major causative factor in monogenic disease.
@ast
Loss of protein structure stability as a major causative factor in monogenic disease.
@en
P2093
P1476
Loss of protein structure stability as a major causative factor in monogenic disease.
@en
P2093
P304
P356
10.1016/J.JMB.2005.08.020
P407
P577
2005-10-01T00:00:00Z