Associated Papers
A Case of Darier Disease With p.N767S Mutation in ATP2A2 Successfully Treated With Upadacitinib.
Sun Z et al.
The American Journal of Dermatopathology, 2026
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Mohaghegh F et al.
Experimental 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
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
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.
Dodiuk-Gad RP et al.
The British Journal of Dermatology, 2016
Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues.
Kaibuchi-Noda K et al.
Acta Dermato-venereologica, 2015
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Green EK et al.
The Journal of Dermatology, 2013
[Darier disease].
Klausegger A et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2013
Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.
Song J et al.
Archives of Dermatological Research, 2010
A new c.2541delC mutation in the ATP2A2 gene in a Japanese patient with Darier's disease.
Hamada T et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.
Hamada T et al.
The British Journal of Dermatology, 2007
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
Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China.
Ren YQ et al.
Archives of Dermatological Research, 2006
P160L mutation in the Ca(2+) ATPase 2A domain in a patient with severe Darier disease.
Godic A et al.
Dermatology (basel, Switzerland), 2004
Mutations in ATP2A2 in patients with Darier's disease.
Ikeda S et al.
The Journal of Investigative Dermatology, 2003
Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease.
Chao SC et al.
The British Journal of Dermatology, 2002
Platelet and cardiac function in Darier's disease.
Tavadia S et al.
Clinical and Experimental Dermatology, 2001
Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease.
Takahashi H et al.
Journal of Dermatological Science, 2001
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Ringpfeil F et al.
Experimental Dermatology, 2001
Genetic basis of Darier-White disease: bad pumps cause bumps.
Bale SJ et al.
Journal of Cutaneous Medicine and Surgery, 2000
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Ruiz-Perez VL et al.
Human Molecular Genetics, 1999
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
Jacobsen NJ et al.
Human Molecular Genetics, 1999
Molecular characterization of 11 Italian patients with Darier disease.
Pedace L et al.
European Journal of Dermatology : Ejd, 0
Sporadic form of epidermolysis bullosa simplex with mottled pigmentation.
Ferreira FR et al.
Anais Brasileiros De Dermatologia, 0