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
Familial comedonal Darier's disease: a new ATP2A2 mutation with intra-family clinical heterogeneity.
Civico-Ruiz MB et al.
International Journal of Dermatology, 2023
Late-onset comedonal Darier's disease caused by a recurrent ATP2A2 mutation.
Guevara BEK et al.
The Journal of Dermatology, 2019
Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.
Gordon-Smith K et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.
Dodiuk-Gad RP et al.
The British Journal of Dermatology, 2016
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Green EK et al.
The Journal of Dermatology, 2013
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
Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses.
Dode L et al.
The Journal of Biological Chemistry, 2003
Mutations in ATP2A2 in patients with Darier's disease.
Ikeda S et al.
The Journal of Investigative Dermatology, 2003
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Ringpfeil F et al.
Experimental Dermatology, 2001
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Sakuntabhai A et al.
Nature Genetics, 1999
Select a paper to view details