Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary

Experimental Dermatology

Volumn 13, Issue 6, 2004, Pages 396-399

  Rácz, Emõke ^a,b   Csikos M ^a   Kornsee Z ^a   Horvath A ^a   Karpati S ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b NONE   (Hungary)

Author keywords

ATP2A2; Darier's disease; Dyskeratosis follicularis; Mutation; SERCA

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); SARCOENDOPLASMIC RETICULUM ADENOSINE TRIPHOSPHATASE (CALCIUM) 2; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DARIER DISEASE; DISEASE SEVERITY; DNA FLANKING REGION; EXON; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC CODE; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HUMAN; HUNGARY; LEARNING DISORDER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; STOP CODON; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; CALCIUM-TRANSPORTING ATPASES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; HUNGARY; KERATOSIS FOLLICULARIS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; SKIN;

EID: 18844477474     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0906-6705.2004.00118.x     Document Type: Article

References (11)

1. + pump, cause Darier disease. Nat Genet 1999: 21 (3): 271-277.
2. Jacobsen N J, Lyars I, Hoogendoorn B et al. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet 1999: 8 (9): 1631-1636.
3. Ringpfeil F, Raus A, Dibiovanna J J et al. Darier disease-novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol 2001: 10 (1): 19-27.
4. Sakuntabhai A, Burge S, Monk S, Hovnanian A. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Hum Mol Genet 1999: 8 (9): 1611-1619.
5. +-ATPase of sarcoplasmic reticulum. J Biol Chem 1990: 265: 22223-22227.
6. +-ATPase of sarcoplasmic reticulum. J Biol Chem 1991: 266: 16157-16164.
7. Lee A G, East J M. What the structure of a calcium pump tells us about its mechanism. Biochem J 2001: 356 (3): 665-683.
8. +-ATPase of sarcoplasmic reticulum (SERCA1a). J Biol Chem 1996: 271: 31412-31419.
9. Miller S A, Dykes D D, Polesky H F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
10. Ruiz-Perez V L, Carter S A, Healy E et al. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet 1999: 8 (9): 1621-1630.
11. Ganguly A, Rock M J, Prockop D J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993: 90: 10325-10329.