Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
Atzmony L et al.
Jama Dermatology, 2024
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
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
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Nellen RG et al.
Human Mutation, 2017
[Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease].
Zhao X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described.
Shi BJ et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Severe Darier's disease patient with mutation of ATP2A2.
Li CR et al.
Postepy Dermatologii I Alergologii, 2014
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
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