Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes
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 manner. We hypothesized that a mutant allele-specific small interfering RNA could rescue the cellular phenotype in patient keratinocytes (KCs).
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Ming Yang Lee, Hong-Zhan Wang, Thomas W. White, Tony Brooks, Alan Pittman, Heerni Halai, Anastasia Petrova, Diane Xu, Stephen L. Hart, Veronica A. Kinsler, Wei-Li Di Tags: Original Article Source Type: research
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