Associated Papers
Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.
Zhang H et al.
Bmc Medical Genomics, 2025
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
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
Hassan AY et al.
International Journal of Molecular Sciences, 2021
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.
Zhang M et al.
Bmc Molecular and Cell Biology, 2020
Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.
Abrams CK et al.
American Journal of Physiology. Cell Physiology, 2018
Identification of a novel GJA3 mutation in congenital nuclear cataract.
Yuan L et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2015
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
Guo Y et al.
Indian Journal of Biochemistry & Biophysics, 2013
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
Zhang X et al.
Molecular Vision, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
Ding X et al.
Molecular Vision, 2011
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
Bennett TM et al.
Molecular Vision, 2011
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.
Jiang JX
Current Molecular Medicine, 2010
Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).
Zhou Z et al.
Molecular Vision, 2010
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2009
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
Burdon KP et al.
Journal of Medical Genetics, 2004
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0