Article
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
The Journal of investigative dermatology - 1 May 2015
García Isaac E, Maripillán Jaime, Jara Oscar, Ceriani Ricardo, Palacios-Muñoz Angelina, Ramachandran Jayalakshmi, Olivero Pablo, Perez-Acle Tomas, González Carlos, Sáez Juan C, Contreras Jorge E, Martínez Agustín D
Abstract excerpt
Mutations in Cx26 gene are found in most cases of human genetic deafness. Some mutations produce syndromic deafness associated with skin disorders, like the Keratitis-Ichthyosis-Deafness syndrome (KID). Because in the human skin connexin 26 (Cx26) is co-expressed with other connexins, like Cx43 and Cx30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change...
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