Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation
Autore:
Ringpfeil, F; Raus, A; DiGiovanna, JJ; Korge, B; Harth, W; Mazzanti, C; Uitto, J; Bale, SJ; Richard, G;
Indirizzi:
Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol,Philadelphia, PA 19107 USA Thomas Jefferson Univ Philadelphia PA USA 19107hiladelphia, PA 19107 USA Inst Mol Med, Philadelphia, PA USA Inst Mol Med Philadelphia PA USAInst Mol Med, Philadelphia, PA USA Brown Univ, Rhode Isl Hosp, Dept Dermatol, Providence, RI 02903 USA Brown Univ Providence RI USA 02903 ept Dermatol, Providence, RI 02903 USA Univ Cologne, Dept Dermatol, D-5000 Cologne, Germany Univ Cologne Cologne Germany D-5000 pt Dermatol, D-5000 Cologne, Germany Hosp Erfurt, Dept Dermatol, Erfurt, Germany Hosp Erfurt Erfurt GermanyHosp Erfurt, Dept Dermatol, Erfurt, Germany Ist Dermopat Immacolata, Rome, Italy Ist Dermopat Immacolata Rome ItalyIst Dermopat Immacolata, Rome, Italy NIAMSD, Genet Studies Sect, NIH, Bethesda, MD 20892 USA NIAMSD Bethesda MD USA 20892 et Studies Sect, NIH, Bethesda, MD 20892 USA
Titolo Testata:
EXPERIMENTAL DERMATOLOGY
fascicolo: 1, volume: 10, anno: 2001,
pagine: 19 - 27
SICI:
0906-6705(200102)10:1<19:DD-NMI>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
SARCOPLASMIC-RETICULUM CA2+-ATPASE; SITE-DIRECTED MUTAGENESIS; GENE; ATPASE; CA-2+-ATPASE; THAPSIGARGIN; PROTEINS; FEATURES; PRODUCTS; CELLS;
Keywords:
keratosis follicularis; mutation; calcium ATPase; SERCA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Richard, G Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol,233 S 10th St,BLSB,Suite 409, Philadelphia, PA 19107 USA Thomas Jefferson Univ 233 S 10th St,BLSB,Suite 409 Philadelphia PA USA 19107
Citazione:
F. Ringpfeil et al., "Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation", EXP DERMATO, 10(1), 2001, pp. 19-27

Abstract

Darier disease (DD) is with a frequency of up to 1 in 36,000 a relatively common genodermatosis with autosomal dominant inheritance and late age of onset. The progressive skin manifestations are variable, but often debilitating and disfiguring, and may be associated with a wide range of neuropsychiatric problems, such as epilepsy and depression. On histology, acantholysisand dyskeratosis are prominent findings, implicating impaired functionality of desmosomes. Recently, mutations in the ATP2A2 gene encoding SERCA2, a calcium pump of the endo/sacrcoplasmic reticulum, have been identified as the molecular basis of DD. This slow-twitched calcium ATPase has two splice variants, one of which is highly expressed in epidermis, and maintains low intracellular calcium levels by facilitating transport of cytosolic calciuminto the endoplasmic reticulum. Thus, it may confer a direct effect on theestablished calcium-dependent assembly of desmosomes. We screened ATP2A2 in a cohort of 24 DD families using conformation sensitive gel electrophoresis and direct sequencing, and detected 14 distinct mutations, 9 of which were novel. The mutational spectrum included 9 missense mutations, 1 nonsensemutation, 3 small in-frame deletions, and a 19-basepair insertion. Mutations were scattered over the entire gene with a slight preponderance in the first 8 exons, and affected exclusively residues conserved among all SERCAs. In addition, we found 2 silent polymorphisms, 1 of which occurred in 4 unrelated families. Comparison of molecular data and phenotypic features, suchas severity and type of disease, occurrence of mucosal involvement, or association with neuropsychiatric disorders, did not reveal an obvious genotype-phenotype correlation in our cohort.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 22:37:48