A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
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Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyA novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.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 gatingAnother evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.Mutation analysis of two families with inherited congenital cataracts.Connexinopathies: a structural and functional glimpseLens gap junctions in growth, differentiation, and homeostasis.The unfolded protein response is activated in connexin 50 mutant mouse lenses.A 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 cataractsA novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46.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 connexin50Oxidative stress, lens gap junctions, and cataractsConnexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation.A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.Functional effects of Cx50 mutations associated with congenital cataracts.Do cell junction protein mutations cause an airway phenotype in mice or humans?Advancement of congenital cataract in the responsible gene.Connexin hemichannels in the lens.Mechanisms linking connexin mutations to human diseases.Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case seriesInherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses.Ophthalmological abnormalities in wild European hedgehogs (Erinaceus europaeus): a survey of 300 animals.A mutant connexin50 with enhanced hemichannel function leads to cell death.A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family.The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.The connexin 46 mutant (V44M) impairs gap junction function causing congenital cataract.Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.Screening, genetics, risk factors, and treatment of neonatal cataracts.
P2860
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P2860
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
@en
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
@nl
type
label
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
@en
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
@nl
prefLabel
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
@en
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
@nl
P2093
P2860
P356
P1476
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts
@en
P2093
A R Webster
I Russel-Eggitt
P J Minogue
P K Addison
V M Berthoud
P2860
P304
P356
10.1136/JMG.2007.051029
P407
P577
2007-11-15T00:00:00Z