Associated Papers
A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.
Zhu Y et al.
Bmc Ophthalmology, 2025
Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.
Yang X et al.
Genes & Genomics, 2024
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Mutations of CX46/CX50 and Cataract Development.
Shi Y et al.
Frontiers in Molecular Biosciences, 2022
Role and Posttranslational Regulation of Cx46 Hemichannels and Gap Junction Channels in the Eye Lens.
Retamal MA et al.
Frontiers in Physiology, 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
Connexin Gap Junctions and Hemichannels in Modulating Lens Redox Homeostasis and Oxidative Stress in Cataractogenesis.
Quan Y et al.
Antioxidants (basel, Switzerland), 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
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
Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.
Micheal S et al.
Genes, 2018
Cataract-associated connexin 46 mutation alters its interaction with calmodulin and function of hemichannels.
Hu Z et al.
The Journal of Biological Chemistry, 2018
Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.
Yao Y et al.
Plos One, 2017
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.
Wang L et al.
Indian Journal of Ophthalmology, 2016
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B et al.
Dna and Cell Biology, 2016
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
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
Cx43-hemichannel function and regulation in physiology and pathophysiology: insights from the bovine corneal endothelial cell system and beyond.
D'hondt C et al.
Frontiers in Physiology, 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
A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
Zhou D et al.
Molecular Vision, 2013
Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death.
Ren Q et al.
Plos One, 2013
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
Zhang L et al.
Molecular Vision, 2012
A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.
Wang L et al.
Molecular Vision, 2011
Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
Devi RR et al.
Molecular Vision, 2005
Congenital cataract: a guide to genetic and clinical management.
Bell SJ et al.
Therapeutic Advances in Rare Disease, 0