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• W2019279379 abstract "It has been demonstrated that distinct germline mutations within four connexin (Cx) genes, Cx26, Cx30, Cx31, and Cx30.3, underlie hearing loss and/or epidermal disease. Here, we describe two Cx26 mutations associated with skin disease. With the goal of understanding the mechanism(s) of Cx-associated human disease and how different mutations within the same Cx protein can result in different disorders, we performed a number of functional analyses investigating the cellular effects of disease-associated Cx mutations in keratinocytes and other cell types. Epidermal disease-associated proteins studied were primarily cytoplasmic with limited trafficking ability. FACS analysis of WT and mutant EGFP-Cx31 transfected keratinocytes revealed a high percentage of cell death associated with the skin disease-associated mutant Cx31 proteins." @default.
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• W2019279379 date "2003-01-01" @default.
• W2019279379 modified "2023-09-27" @default.
• W2019279379 title "Cellular Mechanisms of Mutant Connexins in Skin Disease and Hearing Loss" @default.
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• W2019279379 doi "https://doi.org/10.1080/cac.10.4-6.347.351" @default.
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