Associated Papers
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
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
32143568 (PubMed )
Supplement: 12860_2020_252_MOESM1_ESM.xlsx › Sheet1
Human diseases associated with connexin mutations.
Srinivas M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.
Martin PE et al.
Cell and Tissue Research, 2015
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
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_S4
Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.
Tanteles GA et al.
Clinical Dysmorphology, 2011
Connexin-caused genetic diseases and corresponding mouse models.
Dobrowolski R et al.
Antioxidants & Redox Signaling, 2009
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