A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract
about
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum.Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated.A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50The connexin46 mutant, Cx46T19M, causes loss of gap junction function and alters hemi-channel gatingMutation analysis of 12 genes in Chinese families with congenital cataracts.Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32Connexinopathies: a structural and functional glimpseLens gap junctions in growth, differentiation, and homeostasis.A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian originNovel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataractsA novel GJA8 mutation causing a recessive triangular cataract.A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian originConnexin mutants and cataractsProperties of two cataract-associated mutations located in the NH2 terminus of connexin 46.Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Congenital cataracts and their molecular geneticsNovel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese familyOxidative stress, lens gap junctions, and cataractsThe GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.Functional effects of Cx50 mutations associated with congenital cataracts.Advancement of congenital cataract in the responsible gene.Connexin hemichannels in the lens.Mechanisms linking connexin mutations to human diseases.Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
P2860
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P2860
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@ast
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@en
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@nl
type
label
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@ast
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@en
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@nl
prefLabel
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@ast
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@en
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@nl
P2093
P2860
P3181
P356
P1476
A novel GJA8 mutation is assoc ...... dysfunction in human cataract
@en
P2093
A R Webster
J R Ainsworth
P J Minogue
S S Bhattacharya
P2860
P3181
P356
10.1136/JMG.2005.034108
P407
P577
2006-01-01T00:00:00Z