Associated Papers
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 2023
Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.
Shen J et al.
Investigative Ophthalmology & Visual Science, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Cellular mechanisms of connexin-based inherited diseases.
Laird DW et al.
Trends in Cell Biology, 2022
Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
Jara O et al.
Biomolecules, 2020
Connexin 50-R205G Mutation Perturbs Lens Epithelial Cell Proliferation and Differentiation.
Tjahjono N et al.
Investigative Ophthalmology & Visual Science, 2020
p62/Sequestosome 1 levels increase and phosphorylation is altered in Cx50D47A lenses, but deletion of p62/sequestosome 1 does not improve transparency.
Jara O et al.
Molecular Vision, 2020
The Connexin50D47A Mutant Causes Cataracts by Calcium Precipitation.
Berthoud VM et al.
Investigative Ophthalmology & Visual Science, 2019
CHOP is dispensable for lens transparency in wild-type and connexin50 mutant mice.
Minogue PJ et al.
Molecular Vision, 2019
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
Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.
Shen C et al.
Bmc Ophthalmology, 2017
The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses.
Berthoud VM et al.
The Journal of Biological Chemistry, 2016
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.
Yu Y et al.
Scientific Reports, 2016
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 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
Functional effects of Cx50 mutations associated with congenital cataracts.
Rubinos C et al.
American Journal of Physiology. Cell Physiology, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.
Zhu Y et al.
Plos One, 2014
Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation.
Berthoud VM et al.
Investigative Ophthalmology & Visual Science, 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
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yang G 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 novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yang G et al.
Molecular Vision, 2011
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
Wang L 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
The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.
DeRosa AM et al.
Experimental Cell Research, 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 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 mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
Vanita V et al.
Molecular Vision, 2008
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].
Lin Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Promotion of lens epithelial-fiber differentiation by the C-terminus of connexin 45.6 a role independent of gap junction communication.
Banks EA et al.
Journal of Cell Science, 2007
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 GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
Willoughby CE et al.
Journal of Medical Genetics, 2003
A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.
Chang B et al.
Human Molecular Genetics, 2002
Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract.
Xu X et al.
Investigative Ophthalmology & Visual Science, 1999
Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D et al.
American Journal of Human Genetics, 1999
A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract.
Steele EC et al.
Current Eye Research, 1998