Associated Papers
Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
Lucaciu SA et al.
The Journal of Physiology, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.
Crouthamel OE et al.
International Journal of Molecular Sciences, 2023
Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.
Kobayashi H et al.
American Journal of Medical Genetics. Part A, 2020
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 2019
Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation.
Bursztejn AC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
Gollob MH et al.
The New England Journal of Medicine, 2006
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