Associated Papers
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
A protein interaction mechanism for suppressing the mechanosensitive Piezo channels.
Zhang T et al.
Nature Communications, 2017
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
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's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation.
Takeichi T et al.
Acta Dermato-venereologica, 2016
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
Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability.
Onozuka T et al.
The British Journal of 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