Mutation-targeted siRNA therapy for connexin 26-associated keratitis-ichthyosis-deafness syndrome
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DOI: 10.1016/j.jcyt.2019.04.033
Abstract: Background & Aim Keratitis-ichthyosis-deafness (KID) syndrome is a severe, currently untreatable condition characterized by ocular, auditory and cutaneous abnormalities, with major complications from infection to skin cancer. 86% of cases are caused by a heterozygous… read more here.
Keywords: gap junction; ichthyosis deafness; kid syndrome; keratitis ichthyosis ... See more keywords
Ocular Surface Stem Cell Transplantation for Treatment of Keratitis–Ichthyosis–Deafness Syndrome
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DOI: 10.1097/ico.0000000000001802
Abstract: Purpose: To report our surgical experience with ocular surface stem cell transplantation (OSST) for limbal stem cell deficiency (LSCD) in the setting of keratitis–ichthyosis–deafness (KID) syndrome. Methods: Retrospective interventional case series. Results: We present 5… read more here.
Keywords: ocular surface; stem cell; kid syndrome; surface ... See more keywords
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro
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DOI: 10.1098/rsos.191128
Abstract: The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a… read more here.
Keywords: splice; syndrome mutations; cx26; kid syndrome ... See more keywords