Associated Papers
Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.
Shen J et al.
Investigative Ophthalmology & Visual Science, 2023
37294706 (PubMed )
Supplement: iovs-64-7-18_s002.pdf
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F et al.
Human Genetics, 2019
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
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain.
Johnson AC et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 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
Advancement of congenital cataract in the responsible gene.
Peng L et al.
International Journal of Ophthalmology, 2010
Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.
Liska F et al.
Molecular Vision, 2008
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