Hailey-Hailey disease: Molecular and clinical characterization of novel mutations in the ATP2C1 gene

Journal of Investigative Dermatology

Volumn 118, Issue 2, 2002, Pages 338-343

  Dobson Stone, Carol ^a   Fairclough, Rebecca ^a   Dunne, Eimear ^a   Brown, Joanna ^a   Dissanayake, Manel ^b   Munro, Colin S ^c   Strachan, Tom ^d   Burge, Susan ^e   Sudbrak, Ralf ^f   Monaco, Anthony P ^a   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b GENERAL HOSPITAL   (Sri Lanka)

^c SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e CHURCHILL HOSPITAL   (United Kingdom)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Ca2+ transporting ATPase; Familial benign chronic pemphigus; Genotype phenotype correlation; Recurrent mutation

Indexed keywords

PROTEIN; PROTEIN ATP2C1; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA MODIFICATION; ENVIRONMENTAL FACTOR; EXON; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAILEY HAILEY DISEASE; HAPLOTYPE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSLATION;

EID: 0036178232     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01675.x     Document Type: Article

References (37)

1. 2+-ATPase of sarcoplasmic reticulum
2. 2+-ATPase of sarcoplasmic reticulum
3. 2+-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution
4. Botvinick I: Familial benign pemphigus with oral mucous membrane lesions
5. Hailey-Hailey disease: The clinical features, response to treatment and prognosis
6. Darier-White disease: A review of the clinical features in 163 patients
7. Hailey-Hailey disease: A widespread abnormality of cell adhesion
8. Familial benign chronic pemphigus. Induction of lesions by Candida albicans
9. 2+-ATPase of sarcoplasmic reticulum
10. 2+-ATPase
11. 2+-ATPases for cell viability and calcineurin-dependent regulation of calcium tolerance
12. Familial benign chronic pemphigus appearing as leukoplakia of the vulva
13. 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
14. Hailey-Hailey disease: An electron microscopic study
15. Familial benign chronic pemphigus
16. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
17. Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q
18. The nature and pathogenesis of dyskeratosis in Hailey-Hailey's disease and Darier's disease
19. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
20. Esophageal involvement in familial benign chronic pemphigus
21. Chronic benign familial pemphigus. Induction of lesions by Herpesvirus hominis
22. Familial benign pemphigus (Hailey-Hailey disease)
23. Hailey-Hailey disease masquerading as candidiasis
24. Calcium-induced assembly of adherens junctions in keratinocytes
25. Benign familial chronic pemphigus
26. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
27. 2+ store, with functional properties distinct from those of the endoplasmic reticulum
28. 2+ ATPase family
29. 2+ pump, cause Darier disease
30. Familial benign chronic pemphigus
31. 2+ pump
32. An investigation of the molecular components of desmosomes in epithelial cells of five vertebrates
33. The Golgi PMR1 P-type ATPase of Caenorhabditis elegans. Identification of the gene and demonstration of calcium and manganese transport
34. 2+-ATPase of sarcoplasmic reticulum
35. 2+-ATPase of sarcoplasmic reticulum
36. Calcium-induced reorganization of desmosomal components in cultured human keratinocytes
37. An electron microscopic study of acantholysis and dyskeratosis in Hailey and Hailey's disease