darier's syndrome - HEALTHIES
Please provide your email address to receive an email when new articles are posted on . Variants of the ATP2A2 gene were found in persistent Darier disease lesions. Patients with transient lesions did ...
Understanding the Context
Darier disease is a rare, autosomal dominant genodermatosis arising from mutations in the ATP2A2 gene, which encodes the SERCA2 protein responsible for maintaining intracellular calcium homeostasis. Seeking Alpha: Sol-Gel Provides Update Following Unblinding of Phase 1b Study of SGT-210 in Darier Disease Sol-Gel Provides Update Following Unblinding of Phase 1b Study of SGT-210 in Darier Disease Darier disease (DD) is a rare cutaneous disease caused by heterozygous mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum calcium ATPase isoform 2 (SERCA2). My most memorable patient was a 14-year-old girl with Darier鈥檚 disease. She was covered from head to toe in thick scales.
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Key Insights
Her skin was rough and ashy, and she would literally leave a trail behind her ...