Search Results

Now showing 1 - 1 of 1

Keratitis-Ichthyosis Syndrome Associated Mutations Impair the Localization and Functions of Connexin 26
(Nature Publishing Group, 2015) Aypek, Hande; Meşe, Gülistan
Connexins (Cx) form gap junctions and non-junctional hemichannels that play roles in several cellular mechanisms, including proliferation and differentiation. The importance of connexins for human physiology was shown by the association of mutations in several isoforms with various human hereditary disorders. Mutations in Cx26 cause both non-syndromic and syndromic deafness associated with skin disorders including keratitis-ichthyosis-deafness (KID) syndrome. In vitro characterization of Cx26 mutations suggested that mutations causing non-syndromic deafness and syndromic deafness show different properties, where the former ones result in loss-of-function and the latter ones cause gain-of-function mutations.

Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik