Connexin43 mutations linked to skin disease have augmented hemichannel activity

Mutations in the gene (GJA1) encoding connexin43 (Cx43) are responsible for several rare genetic disorders, including non-syndromic skin-limited diseases. Here we used two different functional expression systems to characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital a...

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Detalles Bibliográficos
Autores principales: Srinivas, Miduturu, Jannace, Thomas F., Cocozzelli, Anthony G., Li, Leping, Slavi, Nefeli, Sellitto, Caterina, White, Thomas W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328547/
https://www.ncbi.nlm.nih.gov/pubmed/30631135
http://dx.doi.org/10.1038/s41598-018-37221-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328547/
https://www.ncbi.nlm.nih.gov/pubmed/30631135
http://dx.doi.org/10.1038/s41598-018-37221-2

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