Associated Papers
Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer.
Yao J et al.
Scientific Reports, 2023
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 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
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
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
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
Ye Y et al.
Ophthalmic Genetics, 2019
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
Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.
Micheal S et al.
Genes, 2018
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
Javadiyan S et al.
G3 (bethesda, Md.), 2017
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B et al.
Dna and Cell Biology, 2016
The connexin46 mutant, Cx46T19M, causes loss of gap junction function and alters hemi-channel gating.
Tong JJ et al.
The Journal of Membrane Biology, 2015
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
Bennett TM et al.
Molecular Vision, 2011
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
Congenital cataract: a guide to genetic and clinical management.
Bell SJ et al.
Therapeutic Advances in Rare Disease, 0
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