A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00403-010-1081-0.pdf
Reference11 articles.
1. Dhitavat J, Fairclough RJ, Hovnanian A et al (2004) Calcium pumps and keratinocytes: lessons from Darier’s disease and Hailey–Hailey disease. Br J Dermatol 150:821–828
2. Gélébart P, Martin V, Enouf J, Papp B et al (2003) Identification of a new SERCA2 splice variant regulated during monocytic differentiation. Biochem Biophys Res Commun 303:676–684
3. Hovnanian A (2004) Darier’s disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency. Biochem Biophys Res Commun 322:1237–1244
4. Huo J, Wang X, Dong Y et al (2009) Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease. Eur J Dermatol 19:512–513
5. Leinonen PT, Hagg PM, Peltonen S et al (2009) Re-evaluation of the normal epidermal calcium gradient, and analysis of calcium levels and ATP receptors in Hailey–Hailey and Darier epidermis. J Investig Dermatol 129:1379–1387
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1. ER-to-Golgi blockade of nascent desmosomal cadherins in SERCA2-inhibited keratinocytes: Implications for Darier's disease;Traffic;2017-02-28
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3. ESCRT components regulate the expression of the ER/Golgi calcium pump gene PMR1 through the Rim101/Nrg1 pathway in budding yeast;Journal of Molecular Cell Biology;2013-08-09
4. NovelATP2A2mutations in a large sample of individuals with Darier disease;The Journal of Dermatology;2013-01-28
5. A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease;Journal of Dermatological Science;2011-10
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