Associated Papers
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts.
Amine R et al.
Journal of Binocular Vision and Ocular Motility, 2023
Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.
Shen J et al.
Investigative Ophthalmology & Visual Science, 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
Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.
Wang X et al.
Frontiers in Medicine, 2021
Connexin 50-R205G Mutation Perturbs Lens Epithelial Cell Proliferation and Differentiation.
Tjahjono N et al.
Investigative Ophthalmology & Visual Science, 2020
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
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.
Li L et al.
Scientific Reports, 2017
Mutations and mechanisms in congenital and age-related cataracts.
Shiels A et al.
Experimental Eye Research, 2017
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
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 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
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
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Santhiya ST et al.
Molecular Vision, 2010
Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus.
Bakthavachalu B et al.
Journal of Genetics, 2010
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
[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
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
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
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
Dense cataract and microphthalmia--new spontaneous mutation in BALB/c mice.
Kohale K et al.
Comparative Medicine, 2004
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
[Investigation on 82 families with congenital cataract].
Jin YZ
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1983