Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Generalized Hailey-Hailey disease associated with c.2395C>T ATP2C1 gene mutation and fatal outcome.
Brown ID et al.
Dermatology Online Journal, 2024
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Papular acantholytic dyskeratosis of the anogenital area with novel ATP2C1 gene mutations.
Xiao XM et al.
Chinese Medical Journal, 2021
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
Hailey-Hailey disease: investigation of a possible compensatory SERCA2 up-regulation and analysis of SPCA1, p63, and IRF6 expression.
Zhang D et al.
Archives of Dermatological Research, 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
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.
Zhang HZ et al.
Clinical and Experimental Dermatology, 2012
Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.
Zhang D et al.
Archives of Dermatological Research, 2012
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease.
Cialfi S et al.
The British Journal of Dermatology, 2010
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
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1.
Nemoto-Hasebe I et al.
Acta Dermato-venereologica, 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
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
Majore S et al.
The Journal of Investigative Dermatology, 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