Associated Papers
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 2023
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
Hassan AY et al.
International Journal of Molecular Sciences, 2021
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.
Zhang M et al.
Bmc Molecular and Cell Biology, 2020
Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.
Abrams CK et al.
American Journal of Physiology. Cell Physiology, 2018
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.
Yu Y et al.
Scientific Reports, 2016
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B et al.
Dna and Cell Biology, 2016
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
Zhang X et al.
Molecular Vision, 2012
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
Ding X et al.
Molecular Vision, 2011
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
Bennett TM 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
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Santhiya ST et al.
Molecular Vision, 2010
Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).
Zhou Z et al.
Molecular Vision, 2010
Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
Devi RR et al.
Molecular Vision, 2005
[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
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