Associated Papers
Different GJA8 missense variants reveal distinct pathogenic mechanisms in congenital cataract.
Li Z et al.
Life Sciences, 2025
Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Goyal S et al.
Bmc Genomics, 2024
Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C et al.
Molecular Medicine Reports, 2023
Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.
Zhou L et al.
Molecular Genetics and Genomics : Mgg, 2022
Beyond the Channels: Adhesion Functions of Aquaporin 0 and Connexin 50 in Lens Development.
Li Z et al.
Frontiers in Cell and Developmental Biology, 2022
Rapamycin relieves the cataract caused by ablation of Gja8b through stimulating autophagy in zebrafish.
Ping X et al.
Autophagy, 2021
Inherited cataracts: Genetic mechanisms and pathways new and old.
Shiels A et al.
Experimental Eye Research, 2021
Mechanosensitive collaboration between integrins and connexins allows nutrient and antioxidant transport into the lens.
Liu J et al.
The Journal of Cell Biology, 2020
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
Berry V et al.
Genes, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 2019
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 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
A Novel Cx50 Insert Mutation from a Chinese Congenital Cataract Family Impairs Its Cellular Membrane Localization and Function.
Cui X et al.
Dna and Cell Biology, 2018
Connexin hemichannels mediate glutathione transport and protect lens fiber cells from oxidative stress.
Shi W et al.
Journal of Cell Science, 2018
Connexin 50 Functions as an Adhesive Molecule and Promotes Lens Cell Differentiation.
Hu Z et al.
Scientific Reports, 2017
Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
Ren M et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.
Cui XK et al.
International Journal of Ophthalmology, 2017
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
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
Mackay DS et al.
Human Genomics, 2014
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.
Ge XL et al.
Scientific Reports, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 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 connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
Li J et al.
Molecular Vision, 2013
Clinical and experimental advances in congenital and paediatric cataracts.
Churchill A et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M et al.
Molecular Vision, 2011
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.
He W et al.
Ophthalmic Genetics, 2011
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
Bennett TM et al.
Molecular Vision, 2011
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.
Jiang JX
Current Molecular Medicine, 2010
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
Hu S et al.
Molecular Vision, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.
Ambrosi C et al.
Biophysical Journal, 2010
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
Wang K et al.
Molecular Vision, 2009
Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner.
Banks EA et al.
Journal of Cell Science, 2009
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
Vanita V et al.
Molecular Vision, 2008
A novel GJA8 mutation causing a recessive triangular cataract.
Schmidt W et al.
Molecular Vision, 2008
Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.
Liska F et al.
Molecular Vision, 2008
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
Yan M et al.
Molecular Vision, 2008
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
Vanita V et al.
Molecular Vision, 2008