Article
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).
The Journal of investigative dermatology - 1 Apr 2004
Schmuth Matthias, Fluhr Joachim W, Crumrine Debra C, Uchida Yoshikazu, Hachem Jean-Pierre, Behne Martin, Moskowitz David G, Christiano Angela M, Feingold Kenneth R, Elias Peter M
Abstract excerpt
Although loricrin is the predominant protein of the cornified envelope (CE) in keratinocytes, loss or gain of loricrin function in mouse models produces only modest skin phenotypes. In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man. To ascertain the basis for the loricrin keratoderma...
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