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- W2113562699 endingPage "95" @default.
- W2113562699 startingPage "73" @default.
- W2113562699 abstract "In the past decade, the production of transgenic animals whose genome is modified to contain DNA transgenes of interest has significantly contributed to expand our understanding of the molecular etiology and pathobiology of several inherited skin diseases. This technology has led to the discovery that mutations affecting specific keratin genes are responsible for a wide spectrum of inherited bullous diseases, which are collectively characterized by blistering after minor trauma. Type I and type II keratin proteins are restricted to, and very abundant in, epithelial cells, where they occur as a pancytoplasmic network of cytoskeletal filaments. Although it had long been suspected that a primary function of keratin filaments may be to contribute to the physical strength of epithelial sheets, a formal demonstration came from studies of transgenic mouse models and patients suffering from keratin-based blistering diseases. Here we review the basic characteristics of keratin gene and their proteins and relate them to the molecular pathogenesis of relevant inherited skin blistering diseases. A particular emphasis is placed on the role of transgenic mouse models in the past, current, and future studies of these genodermatoses." @default.
- W2113562699 created "2016-06-24" @default.
- W2113562699 creator A5027999029 @default.
- W2113562699 creator A5074920093 @default.
- W2113562699 creator A5080862260 @default.
- W2113562699 date "1999-10-01" @default.
- W2113562699 modified "2023-10-09" @default.
- W2113562699 title "Using transgenic models to study the pathogenesis of keratin-based inherited skin diseases" @default.
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