Keratitis-Ichthyosis-Deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43

Mutations in Cx26 gene are found in most cases of human genetic deafness. Some mutations produce syndromic deafness associated with skin disorders, like Keratitis Ichthyosis Deafness syndrome (KID). Because in the human skin Cx26 is co-expressed with other connexins, like Cx43 and Cx30, and since KI...

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Pubblicato in:J Invest Dermatol
Autori principali: García, Isaac E., Maripillán, Jaime, Jara, Oscar, Ceriani, Ricardo, Palacios-Muñoz, Angelina, Ramachandran, Jayalakshimi, Olivero, Pablo, Pérez-Acle, Tomás, González, Carlos, Sáez, Juan C., Contreras, Jorge E., Martínez, Agustín D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4801018/
https://ncbi.nlm.nih.gov/pubmed/25625422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2015.20
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