Four novel ATP2A2 mutations in Slovenian patients with Darier disease
A Godic, B Korošec, J Miljković, A Kansky… - Journal of the American …, 2010 - Elsevier
BACKGROUND: Darier disease (DD) is an autosomal dominant genodermatosis caused by
mutations in the ATP2A2 gene. It has been reported that depletion of Ca2+ 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 without repair. When there is associated
DNA damage, this can lead to an accumulation of secondary somatic mutations and …
mutations in the ATP2A2 gene. It has been reported that depletion of Ca2+ 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 without repair. When there is associated
DNA damage, this can lead to an accumulation of secondary somatic mutations and …