Novel mutations in Darier disease and association to self-reported disease severity-Reference-Cited by-同舟云学术

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Novel mutations in Darier disease and association to self-reported disease severity

Published:2017-10-13 Issue:10 Volume:12 Page:e0186356
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Leong Ivone U. S.,Stuckey Alexander,Ahanian Tara,Cederlöf Martin,Wikstrom Jakob D.^ORCID

Funder

Hudfonden

Vetenskapsrådet

Svenska Sällskapet för Medicinsk Forskning

Stiftelsen Olle Engkvist Byggmästare

Jeanssons Stiftelser

Tore Nilsons Stiftelse för Medicinsk Forskning

Stiftelsen Lars Hiertas Minne

Ostermanns stiftelse

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference40 articles.

1. Genetic epidemiology of Darier’s disease: A population study in the west of Scotland;S Tavadia;British Journal of Dermatology,2002

2. Darier-White disease: A review of the clinical features in 163 patients;SM Burge;Journal of the American Academy of Dermatology,1992

3. ATP2A2 mutations in Darier’s and disease: Variant and cutaneous phenotypes are associated with missense and mutations and but neuropsychiatric features are and independent of mutation class;VL Ruiz-Perez;Human Molecular Genetics,1999

4. Calcium pump disorders of the skin;L Foggia;American Journal of Medical Genetics Part C, Seminars in Medical Genetics,2004

5. ATP2A2 mutations in Darier’s disease and their relationship to neuropsychiatric phenotypes;NJ Jacobsen;Human Molecular Genetics,1999

Cited by 17 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. Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey–Hailey, and Grover Disease;Journal of Investigative Dermatology;2024-08

2. A novel ATP2A2 mutation in a familial case of Darier disease accompanied with intellectual disability;The Journal of Dermatology;2024-06-18

3. A homozygousATP2A2variant alters sarcoendoplasmic reticulum Ca²⁺-ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathy;2024-05-16

4. Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier’s disease flare following COVID-19 infection: A case report;Medicine;2024-03-01

5. Darier's follicular dyskeratosis;Consilium Medicum;2022-11-02

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