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Darier disease
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Darier disease.
Amichai B, Karpati M, Goldman B, Peleg L. Novel mutations in two families with Darier's disease. Int J Dermatol. 2007 Jan;46(1):64-7.
PubMed citation
Byrne CR. The focal nature of Darier's disease lesions: calcium pumps, stress, and mutation? J Invest Dermatol. 2006 Apr;126(4):702-3.
PubMed citation
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM. Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. Br J Dermatol. 2004 May;150(5):821-8. Review.
PubMed citation
Foggia L, Hovnanian A. Calcium pump disorders of the skin. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):20-31. Review.
PubMed citation
Miyauchi Y, Daiho T, Yamasaki K, Takahashi H, Ishida-Yamamoto A, Danko S, Suzuki H, Iizuka H. Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease. J Biol Chem. 2006 Aug 11;281(32):22882-95. Epub 2006 Jun 9.
PubMed citation
Onozuka T, Sawamura D, Yokota K, Shimizu H. Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability. Br J Dermatol. 2004 Apr;150(4):652-7.
PubMed citation
Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol. 2001 Feb;10(1):19-27.
PubMed citation
Sehgal VN, Srivastava G. Darier's (Darier-White) disease/keratosis follicularis. Int J Dermatol. 2005 Mar;44(3):184-92. Review.
PubMed citation
Szigeti R, Kellermayer R. Autosomal-dominant calcium ATPase disorders. J Invest Dermatol. 2006 Nov;126(11):2370-6. Epub 2006 Jun 22. Review.
PubMed citation
Reviewed: March 2008
Published: May 21, 2012