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Titolo:
FIBRILLIN ABNORMALITIES AND PROGNOSIS IN MARFAN-SYNDROME AND RELATED DISORDERS
Autore:
AOYAMA T; FRANCKE U; GASNER C; FURTHMAYR H;
Indirizzi:
STANFORD UNIV,MED CTR,DEPT PATHOL,300 PASTEUR DR STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT CARDIOVASC MED STANFORD CA 94305 STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305
Titolo Testata:
American journal of medical genetics
fascicolo: 2, volume: 58, anno: 1995,
pagine: 169 - 176
SICI:
0148-7299(1995)58:2<169:FAAPIM>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONNECTIVE-TISSUE; MISSENSE MUTATION; CALCIUM-BINDING; LINKAGE; GENES;
Keywords:
MARFAN SYNDROME; ABNORMAL FIBRILLIN; MUTATIONS; PULSE CHASE STUDIES; PROGNOSIS; DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
T. Aoyama et al., "FIBRILLIN ABNORMALITIES AND PROGNOSIS IN MARFAN-SYNDROME AND RELATED DISORDERS", American journal of medical genetics, 58(2), 1995, pp. 169-176

Abstract

Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the;sensitivity and specificity of fibrillin protein abnormalities in the diagnosis of MFS, we studied dermal fibroblasts from 57 patients with classical MFS, 15 with equivocal MFS,8 with single-organ manifestations, anti 16 with other connective tissue disorders including homocystinuria and Ehlers-Danlos syndrome. Abnormal fibrillin metabolism was identified in 70 samples that were classified into four different groups based on quantitation of fibrillin synthesis and matrix deposition. Significant correlations were found for phenotypic features including arachn odactyly, striae distensae, cardiovascular manifestations, and fibrillin groups II and IV, which included 70% of the MFS patients. In addition, these two groups were associated with shortened ''event-free'' survival and more severe cardiovascular complications than groups I and III. The latter included most ofthe equivocal MFS/single manifestation patients with fibrillin abnormalities. Our results indicate that fibrillin defects at the protein level per se are not specific for MFS, but that the drastically reduced fibrillin deposition, caused by a dominant-negative effect of abnormalfibrillin molecules in individuals defined as groups II and IV, is ofprognostic and possibly diagnostic significance. (C) 1995 Wiley-Liss,Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 15:45:21