Article
Four novel ATP2A2 mutations in Slovenian patients with Darier disease.
Journal of the American Academy of Dermatology - 1 May 2010
Godic Aleksandar, Korosec Branka, Miljković Jovan, Kansky Aleksej, Glavac Damjan
Abstract excerpt
BACKGROUND: Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene. It has been reported that depletion of Ca(2+) stores within the endoplasmic reticulum of keratinocytes is associated with impaired cell cycle regulation and terminal differentiation. Mechanical stress, heat, or UV irradiation might delay cell cycle exit and permit progression into the quiescent stage...
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