Article
Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.
The Journal of investigative dermatology - 1 May 2020
Lee Ming Yang, Wang Hong-Zhan, White Thomas W, Brooks Tony, Pittman Alan, Halai Heerni, Petrova Anastasia, Xu Diane, Hart Stephen L, Kinsler Veronica A, Di Wei-Li
Abstract excerpt
Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory, and cutaneous abnormalities, with major complications of infection and skin cancer. Most cases of KID syndrome (86%) are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the GJB2 gene, encoding gap junction protein Cx26, which alters gating properties of Cx26 channels in a dominant...
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