Associated Papers
First case of symmetrical acral keratoderma in Japan with filaggrin mutation who showed marked improvement in skin manifestations using moisturizer.
Akaji K et al.
The Journal of Dermatology, 2020
Novel missense mutation (A414P) in ATP2C1 in a case of familial Hailey-Hailey disease.
Kaga-Kamijo M et al.
The Journal of Dermatology, 2020
The role of the ATP2C1 gene in Hailey-Hailey disease.
Deng H et al.
Cellular and Molecular Life Sciences : Cmls, 2017
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Micaroni M et al.
Cell Death & Disease, 2016
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
Ma YM et al.
Archives of Dermatological Research, 2008
[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].
Li XL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
Zhang ZZ et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007
Diseases involving the Golgi calcium pump.
Vanoevelen J et al.
Sub-cellular Biochemistry, 2007
Autosomal-dominant calcium ATPase disorders.
Szigeti R et al.
The Journal of Investigative Dermatology, 2006
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
Zhang XQ et al.
Clinical and Experimental Dermatology, 2006
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
Ohtsuka T et al.
Dermatology (basel, Switzerland), 2006
Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.
Kellermayer R
Febs Letters, 2005
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
Fairclough RJ et al.
The Journal of Investigative Dermatology, 2004
[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].
Li H et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2003