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
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.
Ronan A et al.
American Journal of Medical Genetics. Part A, 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
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis.
Gupta A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.
Bergman R et al.
The American Journal of Dermatopathology, 2012
Non-familial Acrokeratosis Verruciformis of Hopf.
Bang CH et al.
Annals of Dermatology, 2011
A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation.
Berk DR et al.
The British Journal of Dermatology, 2010
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