Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro

The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product. These mutations, although not creating a cryptic splice site...

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Detalles Bibliográficos
Autores principales: Cook, Jonathan, de Wolf, Elizabeth, Dale, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2019
Materias:
Cellular and Molecular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731697/
https://www.ncbi.nlm.nih.gov/pubmed/31598268
http://dx.doi.org/10.1098/rsos.191128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731697/
https://www.ncbi.nlm.nih.gov/pubmed/31598268
http://dx.doi.org/10.1098/rsos.191128

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