Associated Papers
Expanding the spectrum of Darier disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Stefani C et al.
Gene, 2026
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
40565511 (PubMed )
Supplement: genes-16-00619-s001.zip › genes-3647767-supplementary.xlsx › Foglio1
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey.
Nakamura T et al.
Psychiatry and Clinical Neurosciences, 2016
Severe Darier's disease patient with mutation of ATP2A2.
Li CR et al.
Postepy Dermatologii I Alergologii, 2014
Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes.
Wang Y et al.
Journal of Cell Science, 2011
Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.
Miyauchi Y et al.
The Journal of Biological Chemistry, 2006
Mutations in ATP2A2 in patients with Darier's disease.
Ikeda S et al.
The Journal of Investigative Dermatology, 2003
Multiple effects of SERCA2b mutations associated with Darier's disease.
Ahn W et al.
The Journal of Biological Chemistry, 2003
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Ringpfeil F et al.
Experimental Dermatology, 2001
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