P160L mutation in the Ca2+ ATPase 2A domain in a patient with severe Darier disease

Dermatology

Volumn 209, Issue 2, 2004, Pages 142-144

  Godic, Aleksandar ^a   Glavač, Damjan ^b   Korošec, Branka ^b   Miljković, Jovan ^c   Potočnik, Marko ^a   Kansky, Aleksej ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b INSTITUTE OF PATHOLOGY   (Slovenia)

^c UNIVERSITY MEDICAL CENTRE MARIBOR   (Slovenia)

Author keywords

ATP2A2 gene; Ca2+ transporting ATPase; Keratosis follicularis

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); CALCIUM ION; ETRETIN; ISOTRETINOIN; PROTEIN P160;

AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CALCIUM CELL LEVEL; CASE REPORT; CHROMOSOME TRANSLOCATION; CLINICAL EXAMINATION; CLINICAL FEATURE; DARIER DISEASE; DIAGNOSTIC APPROACH ROUTE; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG INDICATION; ENDOPLASMIC RETICULUM; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN POLYMORPHISM;

ADULT; BIOPSY, NEEDLE; CALCIUM-TRANSPORTING ATPASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; KERATOSIS FOLLICULARIS; MALE; MUTATION; POLYMORPHISM, GENETIC; PROGNOSIS; RISK ASSESSMENT; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; SEVERITY OF ILLNESS INDEX;

EID: 4444263353     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000079600     Document Type: Article

References (17)

1. Burge S, Wilkinson DJ: Darier-White disease: A review of the clinical features in 163 patients. J Am Acad Dermatol 1992;27:40-50.
2. Bale SJ, Toro JR: Genetic basis of Darier-White disease: Bad pumps cause bumps. J Cutan Med Surg 2000;4:103-106.
3. 2+ pump, cause Darier disease. Nat Genet 1999;21:271-277.
4. Itin PH, Happle R: Darier disease with paired segmental manifestation of either excessive or absent involvement: A further step in the concept of twin spotting. Dermatology 2002;205:344-347.
5. Munro CS: The phenotype of Darier's disease: Penetrance and expressivity in adults and children. Br J Dermatol 1992;127:126-130.
6. Burge S: Management of Darier's disease. Clin Exp Dermatol 1999;24:53-56.
7. Svendsen IB, Albrectsen B: The prevalence of dyskeratosis follicularis (Darier's disease) in Denmark. Acta Derm Venereol 1959;39:256-269.
8. Tavadia S, Mortimer E, Munro CS: Genetic epidemiology of Darier's disease: A population study in the west of Scotland. Br J Dermatol 2002;146:107-109.
9. Jacobsen NJO, Lynos I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, Craddock N, Owen MJ: ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet 1999;8:1631-1636.
10. Pozzan T, Rizzuto R, Volpe P, Meldolesi J: Molecular and cellular physiology of intracellular calcium stores. Physiol Rev 1994;74:595-636.
11. Ahn W, Lee MG, Kim KH, Muallem S: Multiple effects of SERCA2b mutations associated with Darier's disease. J Biol Chem 2003;278:20795-20801.
12. Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Rivhard G: Darier disease - Novel mutations in ATP2A2 and genotype correlation. Exp Dermatol 2001;10:19-29.
13. Sakuntabhai A, Burge SM, Monk S, Hovnanian A: Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Hum Mol Genet 1999;8:1611-1619.
14. 1ATP states: A limited proteolysis study. FEBS Lett 2001;505:129-135.
15. Toyoshima C, Nakasako M, Ogawa H: Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 Å resolution. Nature 2000;405:647-655.
16. Toyoshima C, Nomura H: Structural changes in the calcium pump accompanying the dissociation of calcium. Nature 2002;418:605-611.
17. Kuenzli S, Saurat JH: Retinoids; in Bolognia JL, Jorizzo JL, Rapini RP (eds): Dermatology. Philadelphia, Elsevier, 2003, vol 2, pp 1991-2006.