Associated Papers
Genetic context modulates aging and degeneration in the murine retina.
Marola OJ et al.
Molecular Neurodegeneration, 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
Genetic context modulates aging and degeneration in the murine retina.
Marola OJ et al.
Biorxiv : the Preprint Server for Biology, 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
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
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
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 2019
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Yu X et al.
Human Genetics, 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
The E368Q Mutant Allele of GJA8 is Associated with Congenital Cataracts with Intrafamilial Variation in a South Indian Family.
Senthil Kumar G et al.
Open Access 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
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
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
Mutational screening of Indian families with hereditary congenital cataract.
Ponnam SP et al.
Molecular Vision, 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
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
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
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Ponnam SP et al.
Journal of Medical Genetics, 2007
A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.
Guleria K et al.
Molecular Vision, 2007
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.
Arora A et al.
Journal of Medical Genetics, 2006
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0