Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
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
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
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.
Dodiuk-Gad RP et al.
The British Journal of Dermatology, 2016
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Green EK et al.
The Journal of Dermatology, 2013
New mutations of Darier disease in Tunisian patients.
Bchetnia M et al.
Archives of Dermatological Research, 2009
Clinical and mutational heterogeneity of Darier disease in Tunisian families.
Bchetnia M et al.
Archives of Dermatology, 2009
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
Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.
Rácz E et al.
Experimental Dermatology, 2004
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
Spectrum of novel ATP2A2 mutations in patients with Darier's disease.
Sakuntabhai A et al.
Human Molecular Genetics, 1999