Associated Papers
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.
Khidiyatova I et al.
Current Issues in Molecular Biology, 2023
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
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
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
Development of a potent embryonic chick lens model for studying congenital cataracts in vivo.
Li Z et al.
Communications Biology, 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
Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract.
Wang KJ et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 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
Connexin hemichannels mediate glutathione transport and protect lens fiber cells from oxidative stress.
Shi W et al.
Journal of Cell Science, 2018
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
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
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
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 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
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
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 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
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
Wang K et al.
Molecular Vision, 2009
[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].
Yan M et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 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
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Ponnam SP et al.
Journal of Medical Genetics, 2007
Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation.
Xia CH et al.
Journal of Cell Science, 2006
Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.
Xia CH et al.
Development (cambridge, England), 2006
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
Burdon KP et al.
Journal of Medical Genetics, 2004
Connexin disorders of the ear, skin, and lens.
Gerido DA et al.
Biochimica Et Biophysica Acta, 2004
Molecular genetics of cataract.
Hejtmancik JF et al.
Developments in Ophthalmology, 2003