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Titolo:
The molecular pathogenesis of the Marfan syndrome
Autore:
Robinson, PN; Booms, P;
Indirizzi:
Charite Univ Hosp, Dept Gen Pediat, Inst Med Genet, D-13353 Berlin, Germany Charite Univ Hosp Berlin Germany D-13353 Genet, D-13353 Berlin, Germany Charite Univ Hosp, Dept Gen Pediat, Lab Pediat Mol Biol, D-13353 Berlin, Germany Charite Univ Hosp Berlin Germany D-13353 l Biol, D-13353 Berlin, Germany
Titolo Testata:
CELLULAR AND MOLECULAR LIFE SCIENCES
fascicolo: 11, volume: 58, anno: 2001,
pagine: 1698 - 1707
SICI:
1420-682X(200110)58:11<1698:TMPOTM>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-LIKE DOMAINS; EGF-LIKE DOMAIN; ABDOMINAL AORTIC-ANEURYSMS; CALCIUM-BINDING; FIBRILLIN GENE; MATRIX METALLOPROTEINASES; EXTRACELLULAR-MATRIX; MISSENSE MUTATION; FBN1 MUTATIONS; IN-VITRO;
Keywords:
Marfan syndrome; fibrillin-1; microfibril; fibrillinopathy; pathogenesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
54
Recensione:
Indirizzi per estratti:
Indirizzo: Robinson, PN Charite Univ Hosp, Dept Gen Pediat, Inst Med Genet, Augustenburger Pl 1, D-13353 Berlin, Germany Charite Univ Hosp Augustenburger Pl 1 Berlin Germany D-13353
Citazione:
P.N. Robinson e P. Booms, "The molecular pathogenesis of the Marfan syndrome", CELL MOL L, 58(11), 2001, pp. 1698-1707

Abstract

The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a range of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS and other related disorders of connective tissue collectively termed type-1 fibrillino-pathies. Fibrillin-1 is a main component of the 10- to 12 nm extracellular microfibrils that are important for elastogenesis, elasticity, and homeostasis of elastic fibers, Mutations in fibrillin-1 are hypothesized to exert their effects by dominant negative mechanisms, but recent work has also emphasized the potential role of proteases and disturbances in tissue homeostasis in the pathogenesis of the MFS. This article provides an overview of the clinical aspects of the MFS and current thinking on the pathogenesis of this disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 22:06:34