Associated Papers
Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.
Asahina Y et al.
European Journal of Human Genetics : Ejhg, 2023
Two Novel and a Recurrent ATP2C1 Mutations in Chinese Population with Hailey-Hailey Disease.
Zhang D et al.
Clinical, Cosmetic and Investigational Dermatology, 2023
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Application of topical gentamicin-a new era in the treatment of genodermatosis.
Wang S et al.
World Journal of Pediatrics : Wjp, 2021
Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients.
Xiao Z et al.
Molecular Syndromology, 2021
Elderly-onset type 1 mosaic form of Hailey-Hailey disease with a postzygotic variant in ATP2C1.
Higaki-Mori H et al.
The Journal of Dermatology, 2021
Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population.
Wang Z et al.
The Journal of Dermatology, 2019
Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.
Ohguchi Y et al.
The Journal of Investigative Dermatology, 2018
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
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
Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.
Cheng TS et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 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
[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary].
Szigeti R et al.
Orvosi Hetilap, 2005
[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
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 in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
Hu Z et al.
Nature Genetics, 2000