Associated Papers
Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.
Zhang H et al.
Bmc Medical Genomics, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Merepa SS et al.
European Journal of Human Genetics : Ejhg, 2025
Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.
Jin A et al.
Frontiers in Cell and Developmental Biology, 2022
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
Hassan AY et al.
International Journal of Molecular Sciences, 2021
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D 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
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Yu X et al.
Human Genetics, 2018
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.
Berry V et al.
Eye (london, England), 2018
Mutation profiles of congenital cataract genes in 21 northern Chinese families.
Zhang XH et al.
Molecular Vision, 2018
The connexin 46 mutant (V44M) impairs gap junction function causing congenital cataract.
Chen L et al.
Journal of Genetics, 2017
Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.
Mohebi M et al.
Iranian Journal of Basic Medical Sciences, 2017
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B et al.
Dna and Cell Biology, 2016
Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.
Ma MF et al.
International Journal of Ophthalmology, 2016
Identification of a novel GJA3 mutation in congenital nuclear cataract.
Yuan L et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2015
Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.
Yang Z et al.
Current Eye Research, 2015
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
Sun W et al.
Plos One, 2014
Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
Guo Y et al.
Indian Journal of Biochemistry & Biophysics, 2013
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
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W 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
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