A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

Item
http://www.wikidata.org/entity/Q37294274
Crystal structure of the cataract-causing P23T γD-crystallin mutantTargeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.A novel human CRYGD mutation in a juvenile autosomal dominant cataractThe congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregationCoarse-grained model for colloidal protein interactions, B(22), and protein cluster formation.Phosphoproteomics characterization of novel phosphorylated sites of lens proteins from normal and cataractous human eye lensesMutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataractA novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese familyAssociation between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Comparative proteomics analysis of degenerative eye lenses of nocturnal rice eel and catfish as compared to diurnal zebrafishA nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular DystrophyPatterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses
P2860

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

Item
http://www.wikidata.org/entity/Q37294274
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 06 August 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A novel gammaD-crystallin muta ...... ongenital coralliform cataract
@en
A novel gammaD-crystallin muta ...... ngenital coralliform cataract.
@nl
type
label
A novel gammaD-crystallin muta ...... ongenital coralliform cataract
@en
A novel gammaD-crystallin muta ...... ngenital coralliform cataract.
@nl
prefLabel
A novel gammaD-crystallin muta ...... ongenital coralliform cataract
@en
A novel gammaD-crystallin muta ...... ngenital coralliform cataract.
@nl
P1433
P1476
P2093
P2860
P304
P31
P478
P50
P577
P698
P921
P932
P1433
P1476
A novel gammaD-crystallin muta ...... ongenital coralliform cataract
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P921
P932