Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
[Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier's disease].
Zhang S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.
Guo X et al.
Genes & Genomics, 2025
Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease.
Koga H et al.
Acta Dermato-venereologica, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.
Mäki-Marttunen T et al.
Translational Psychiatry, 2017
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
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
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.
Harboe TL et al.
Dermatology (basel, Switzerland), 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
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
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
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Sakuntabhai A et al.
Nature Genetics, 1999