Associated Papers
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
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
The amino terminal domain plays an important role in transjunctional voltage-dependent gating kinetics of Cx45 gap junctions.
Santos-Miranda A et al.
Journal of Molecular and Cellular Cardiology, 2020
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
32143568 (PubMed )
Supplement: 12860_2020_252_MOESM1_ESM.xlsx › Sheet1
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
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
Yao K et al.
Human Mutation, 2011
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2008
A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
Jiang H et al.
Molecular Vision, 2003
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