Associated Papers
Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.
Dong S et al.
European Journal of Human Genetics : Ejhg, 2024
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.
Vanita V et al.
Frontiers in Pediatrics, 2022
Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant.
Tong JJ et al.
Biophysical Journal, 2021
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 2019
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
Ye Y et al.
Ophthalmic Genetics, 2019
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F et al.
Human Genetics, 2019
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
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
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
Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.
Liu Y et al.
Journal of Genetics, 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
Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.
Tong X et al.
The Journal of 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 GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.
Zhu Y et al.
Plos One, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.
Su D et al.
Plos One, 2013
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
Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death.
Ren Q et al.
Plos One, 2013
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.
Tong JJ et al.
American Journal of Physiology. Cell Physiology, 2011
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
Sun W et al.
Molecular Vision, 2011
A mutant connexin50 with enhanced hemichannel function leads to cell death.
Minogue PJ et al.
Investigative Ophthalmology & Visual Science, 2009
Congenital cataract: a guide to genetic and clinical management.
Bell SJ et al.
Therapeutic Advances in Rare Disease, 0