Associated Papers
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
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.
Berry V et al.
Eye (london, England), 2018
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B et al.
Dna and Cell Biology, 2016
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
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Hansen L et al.
Molecular Vision, 2007
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2007
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
Addison PK et al.
Molecular Vision, 2006
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
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
Connexin disorders of the ear, skin, and lens.
Gerido DA et al.
Biochimica Et Biophysica Acta, 2004
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004
Molecular genetics of cataract.
Hejtmancik JF et al.
Developments in Ophthalmology, 2003
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
Rees MI et al.
Human Genetics, 2000
[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