Associated Papers
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
Failed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic Disorder.
Harmon R et al.
Biorxiv : the Preprint Server for Biology, 2025
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.
Li M et al.
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2017
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Green EK et al.
The Journal of Dermatology, 2013
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
Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.
Rácz E et al.
Experimental Dermatology, 2004
Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability.
Onozuka T et al.
The British Journal of Dermatology, 2004
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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