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Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations
(BioMed Central, 2016-02)
Background: Gap junctions facilitate exchange of small molecules between adjacent cells, serving a crucial function for the maintenance of cellular homeostasis. Mutations in connexins, the basic unit of gap junctions, are ...
Alteration of protein localization and intracellular calcium content due to connexin26 D50A and A88V mutations
(Türk Biyokimya Derneği, 2017-04)
Introduction: Connexins (Cx) play essential roles in cellular homeostasis by forming gap junctions and non-junctional hemichannels. In vitro characterization of Cx26 mutations causing keratitis-ichthyosis-deafness (KID) ...