Associated Papers
Mutations of CX46/CX50 and Cataract Development.
Shi Y et al.
Frontiers in Molecular Biosciences, 2022
Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.
Jin A et al.
Frontiers in Cell and Developmental Biology, 2022
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.
Min HY et al.
Chinese Medical Journal, 2016
An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.
Sun Y et al.
Disease Models & Mechanisms, 2014
Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.
Bai D
Febs Letters, 2014
Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.
Tanisawa K et al.
Bmc Genomics, 2013
23586671 (PubMed )
Supplement: 1471-2164-14-248-S1.xls › Table_S1
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.
Jiang JX
Current Molecular Medicine, 2010
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Ponnam SP et al.
Journal of Medical Genetics, 2007
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
Gollob MH et al.
The New England Journal of Medicine, 2006
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
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