Down-regulation of GJA3 is associated with lens epithelial cell apoptosis and age-related cataract.
Sign Up to like & getrecommendations! Published in 2017 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.01.050
Abstract: Lens epithelial cell apoptosis is regarded as the common molecular basis of the initiation and subsequent progression of cataract. Recent studies have shown that Oxidative radicals derived from H2O2 causes lens epithelial cell apoptosis, While… read more here.
Keywords: gja3; epithelial cell; lens epithelial; apoptosis ... See more keywords
Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.
Sign Up to like & getrecommendations! Published in 2020 at "DNA and cell biology"
DOI: 10.1089/dna.2020.5605
Abstract: Congenital cataract refers to a lens opacity caused by multiple etiological factors, including genetic mutation, abnormal metabolism of the lens, and infection. Currently, there are >100 known disease-causing genes as well as 60 known mutations… read more here.
Keywords: congenital cataract; gja3; s50p; family ... See more keywords
Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0184440
Abstract: Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic… read more here.
Keywords: congenital cataract; gja3; exome sequencing; chinese family ... See more keywords
Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1003909
Abstract: Aims The study aims to detect the underlying genetic defect in two autosomal dominant congenital cataract (ADCC) families. Methods A detailed family history was collected, pedigrees were drawn, and slit-lamp examination and lens photography were… read more here.
Keywords: gja8; family; cataract; adcc family ... See more keywords