Associated Papers
A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.
Zhu Y et al.
Bmc Ophthalmology, 2025
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Role and Posttranslational Regulation of Cx46 Hemichannels and Gap Junction Channels in the Eye Lens.
Retamal MA et al.
Frontiers in Physiology, 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
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.
Wang L et al.
Indian Journal of Ophthalmology, 2016
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B et al.
Dna and Cell Biology, 2016
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death.
Ren Q et al.
Plos One, 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
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
Zhang L 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
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yang G et al.
Molecular Vision, 2011
A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.
Wang L et al.
Molecular Vision, 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
Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner.
Banks EA et al.
Journal of Cell Science, 2009
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Ponnam SP et al.
Journal of Medical Genetics, 2007
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
Devi RR et al.
Molecular Vision, 2005
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
Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.
Pal JD et al.
American Journal of Physiology. Cell Physiology, 2000
Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D et al.
American Journal of Human Genetics, 1999
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular genetic basis of inherited cataract and associated phenotypes.
Reddy MA et al.
Survey of Ophthalmology, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0