Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis

Mutations in the GJA1 gene that encodes connexin43 (Cx43) cause several rare genetic disorders, including diseases affecting the epidermis. Here, we examined the in vitro functional consequences of a Cx43 mutation, Cx43-G38E, linked to a novel human phenotype of hypotrichosis, follicular keratosis a...

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Detalles Bibliográficos
Autores principales: Crouthamel, Olivia E., Li, Leping, Dilluvio, Michael T., White, Thomas W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916973/
https://www.ncbi.nlm.nih.gov/pubmed/36768546
http://dx.doi.org/10.3390/ijms24032222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916973/
https://www.ncbi.nlm.nih.gov/pubmed/36768546
http://dx.doi.org/10.3390/ijms24032222

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