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
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R et al.
Bmc Ophthalmology, 2022
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
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
Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.
Vetrivel S et al.
Experimental Eye Research, 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
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
A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.
Zhang L et al.
The Tohoku Journal of Experimental Medicine, 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
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
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
Structural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structure.
Beyer EC et al.
Biochimica Et Biophysica Acta, 2012
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
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
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).
Musa FU et al.
Eye (london, England), 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
Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50.
Thomas BC et al.
Investigative Ophthalmology & Visual Science, 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
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
Connexin disorders of the ear, skin, and lens.
Gerido DA et al.
Biochimica Et Biophysica Acta, 2004
[Investigation on 82 families with congenital cataract].
Jin YZ
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1983
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0
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