Associated Papers
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
Long-term hybridization in a karst window reveals the genetic basis of eye loss in cavefish.
Kellermeyer R et al.
Biorxiv : the Preprint Server for Biology, 2024
The Hydrophobic Residues in Amino Terminal Domains of Cx46 and Cx50 Are Important for Their Gap Junction Channel Ion Permeation and Gating.
Jaradat R et al.
International Journal of Molecular Sciences, 2022
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R et al.
Bmc Ophthalmology, 2022
The Amino Terminal Domain and Modulation of Connexin36 Gap Junction Channels by Intracellular Magnesium Ions.
Kraujalis T et al.
Frontiers in Physiology, 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
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Yu X et al.
Human Genetics, 2018
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.
Yu Y et al.
Scientific Reports, 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
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
Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.
Yang Z et al.
Current Eye Research, 2015
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
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
Sun W et al.
Molecular Vision, 2011
Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.
Asghari M et al.
Journal of Current Ophthalmology, 0