Articles with "genetics darier" as a keyword



Genetics of Darier’s Disease: New Insights into Pathogenic Mechanisms

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Published in 2025 at "Genes"

DOI: 10.3390/genes16060619

Abstract: Darier′s disease (DD) is a rare, autosomal dominant genodermatosis caused by pathogenic variants in the ATP2A2 gene, which encodes the SERCA2 protein, an endoplasmic reticulum ATPase Ca2+ transporter. These mutations impair the intracellular calcium homeostasis… read more here.

Keywords: genetics; insights pathogenic; new insights; genetics darier ... See more keywords