Associated Papers
Generalized Hailey-Hailey disease associated with c.2395C>T ATP2C1 gene mutation and fatal outcome.
Brown ID et al.
Dermatology Online Journal, 2024
Case report: Difference in outcomes between two cases of Hailey-Hailey disease treated with apremilast.
Yamaga M et al.
Frontiers in Genetics, 2022
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
Yang L et al.
Molecular Genetics & Genomic Medicine, 2021
Mosaic variant in ATP2C1 presenting as relapsing linear acantholytic dermatosis.
Katzman JA et al.
The British Journal of Dermatology, 2020
Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.
Xu K et al.
Medical Science Monitor Basic Research, 2017
The role of the ATP2C1 gene in Hailey-Hailey disease.
Deng H et al.
Cellular and Molecular Life Sciences : Cmls, 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
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Micaroni M et al.
Cell Death & Disease, 2016
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.
Meng L et al.
Genetics and Molecular Research : Gmr, 2015
Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease.
Biolcati G et al.
Clinical and Experimental Dermatology, 2014
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease.
Cialfi S et al.
The British Journal of Dermatology, 2010
Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene.
Hamada T et al.
Journal of Dermatological Science, 2008
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
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
Ohtsuka T et al.
Dermatology (basel, Switzerland), 2006
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
Majore S et al.
The Journal of Investigative Dermatology, 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
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease.
Li H et al.
The British Journal of Dermatology, 2003
[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
Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.
Yokota K et al.
The Journal of Investigative Dermatology, 2002
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
Dobson-Stone C et al.
The Journal of Investigative Dermatology, 2002
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns.
Ikeda S et al.
The Journal of Investigative Dermatology, 2001
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
Hu Z et al.
Nature Genetics, 2000