Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs
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
Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene.
Shimizu K et al.
The Journal of Dermatology, 2023
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
A case of type 1 segmental Darier disease showing widespread Blaschkoid skin lesions with p.P160L mutation in ATP2A2.
Agematsu A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
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
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
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
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Ringpfeil F et al.
Experimental Dermatology, 2001
Spectrum of novel ATP2A2 mutations in patients with Darier's disease.
Sakuntabhai A et al.
Human Molecular Genetics, 1999
Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes.
Godic A et al.
European Journal of Dermatology : Ejd, 0
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