Article
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
American journal of physiology. Cell physiology - 15 Jun 2013
Mhaske Pallavi V, Levit Noah A, Li Leping, Wang Hong-Zhan, Lee Jack R, Shuja Zunaira, Brink Peter R, White Thomas W
Abstract excerpt
Mutations in the human gene encoding connexin 26 (Cx26 or GJB2) cause either nonsyndromic deafness or syndromic deafness associated with skin diseases. That distinct clinical disorders can be caused by different mutations within the same gene suggests that different channel activities influence the ear and skin. Here we use three different expression systems to examine the functional characteristics of two Cx26...
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