Associated Papers
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
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Connexin 50-R205G Mutation Perturbs Lens Epithelial Cell Proliferation and Differentiation.
Tjahjono N et al.
Investigative Ophthalmology & Visual Science, 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
Mutations and mechanisms in congenital and age-related cataracts.
Shiels A et al.
Experimental Eye Research, 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
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
Shuja Z et al.
The Journal of Investigative Dermatology, 2016
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.
Liu Y et al.
Journal of Genetics, 2015
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
A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor.
Minogue PJ et al.
The Journal of Biological Chemistry, 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
The unfolded protein response is activated in connexin 50 mutant mouse lenses.
Alapure BV et al.
Experimental Eye Research, 2012
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
Xia CH et al.
Plos One, 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
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
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
Connexin-caused genetic diseases and corresponding mouse models.
Dobrowolski R et al.
Antioxidants & Redox Signaling, 2009
Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.
Liska F et al.
Molecular Vision, 2008
The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.
DeRosa AM et al.
Journal of Cell Science, 2007
Connexins in lens development and cataractogenesis.
Gong X et al.
The Journal of Membrane Biology, 2007
Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.
Xia CH et al.
Development (cambridge, England), 2006
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0