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
Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.
Muncanovic D et al.
Scientific Reports, 2019
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
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
Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.
Song J et al.
Archives of Dermatological Research, 2010
Two novel frame-shift mutations of ATP2A2 gene in Chinese patients with Darier's disease.
Quan C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2008
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
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