From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome

The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and hearing abnormalities. KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively. In vitro evidence indicates that KID mutations lead to...

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Veröffentlicht in:	Journal of investigative dermatology 2016-03, Vol.136 (3), p.574-583
Hauptverfasser:	García, Isaac E., Bosen, Felicitas, Mujica, Paula, Pupo, Amaury, Flores-Muñoz, Carolina, Jara, Oscar, González, Carlos, Willecke, Klaus, Martínez, Agustín D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Calcium Channels - genetics Cell Membrane Permeability - genetics connexin Connexin 26 Connexins - genetics Epidermis - metabolism gap junction channels Gap Junctions - metabolism Genetic Predisposition to Disease GJCs HCs hemichannels Humans Keratitis - genetics keratitis-ichthyosis-deafness KID Mice Mice, Transgenic Mutation, Missense palmoplantar keratoderma PPK Water-Electrolyte Imbalance - genetics Water-Electrolyte Imbalance - physiopathology
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