Associated Papers
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr.
Li D et al.
Bmc Ophthalmology, 2020
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 2019
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F et al.
Human Genetics, 2019
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Yu X et al.
Human Genetics, 2018
Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
Ren M et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.
Yu Y et al.
Scientific Reports, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.
Min HY et al.
Chinese Medical Journal, 2016
A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts.
Dang FT et al.
International Journal of Ophthalmology, 2016
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
Chen C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015
Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.
Yang Z et al.
Current Eye Research, 2015
The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.
Tong X et al.
Plos One, 2015
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
Mackay DS et al.
Human Genomics, 2014
Functional effects of Cx50 mutations associated with congenital cataracts.
Rubinos C et al.
American Journal of Physiology. Cell Physiology, 2014
Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.
Sarkar D et al.
Biomed Research International, 2014
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
Li J et al.
Molecular Vision, 2013
Mutational screening of Indian families with hereditary congenital cataract.
Ponnam SP et al.
Molecular Vision, 2013
A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.
Su D et al.
Molecular Vision, 2012
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M et al.
Molecular Vision, 2011
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.
He W et al.
Ophthalmic Genetics, 2011
A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
Yang Z et al.
Molecular Vision, 2011
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.
Jiang JX
Current Molecular Medicine, 2010
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
Hu S et al.
Molecular Vision, 2010
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
Vanita V et al.
Molecular Vision, 2008
A novel GJA8 mutation causing a recessive triangular cataract.
Schmidt W et al.
Molecular Vision, 2008
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
Yan M et al.
Molecular Vision, 2008
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Ponnam SP et al.
Journal of Medical Genetics, 2007
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
Vanita V et al.
Molecular Vision, 2006
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0