Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease-Reference-Cited by-同舟云学术

Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease

Published:2015-04-06 Issue:6 Volume:30 Page:1057-1059
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Xing X.-S.¹,Wang Z.²,Liu S.¹,Wu Y.-H.¹,Zhang S.-F.³,Wang S.-S.¹,Luo Y.¹

Affiliation:

1. The Research Center for Medical Genomics; Key Laboratory of Cell Biology; Ministry of Public Health; Key Laboratory of Medical Cell Biology; Ministry of Education; China Medical University; Shenyang China

2. Department of Dermatology; Shenyang No. 7 People's Hospital; Shenyang China

3. Department of Dermatology; General Hospital of Shenyang Military Region; Shenyang China

Funder

National Natural Science Foundation of China

National Basic Research Program of China

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13107/fullpdf

Reference9 articles.

1. Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+)/Mn(2+) ATPase SPCA1 in cultured keratinocytes;Raiko;Exp Dermatol,2012

2. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump;Sudbrak;Hum Mol Genet,2000

3. The contribution of the SPCA1 Ca2+ pump to the Ca2+ accumulation in the Golgi apparatus of HeLa cells assessed via RNA-mediated interference;Baelen;Biochem Biophys Res Commun,2003

4. Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene;Dobson-Stone;J Invest Dermatol,2002

5. Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity;Mukhopadhyay;Proc Natl Acad Sci USA,2011

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inherited Acantholytic Disorders;Rook's Textbook of Dermatology;2024-02-20

2. Vielfältige Klinik, differenzierte Therapie;Deutsche Dermatologie;2022-10

3. Novel ATP2C1 frame‐shift mutation in a mild case of early onset sporadic Hailey–Hailey disease;The Journal of Dermatology;2020-11-08

4. Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population;Medical Science Monitor Basic Research;2017-11-06

5. ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking;Cell Death & Disease;2016-06