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Titolo:
TARGETING OF THE GENE ENCODING FIBRILLIN-1 RECAPITULATES THE VASCULARASPECT OF MARFAN-SYNDROME
Autore:
PEREIRA L; ANDRIKOPOULOS K; TIAN J; LEE SY; KEENE DR; ONO R; REINHARDT DP; SAKAI LY; BIERY NJ; BUNTON T; DIETZ HC; RAMIREZ F;
Indirizzi:
CUNY MT SINAI SCH MED,BROOKDALE CTR DEV & MOL BIOL,1 GUSTAVE L LEVY PL NEW YORK NY 10029 CUNY MT SINAI SCH MED,BROOKDALE CTR DEV & MOL BIOL NEW YORK NY 10029 UNIV SAO PAULO,INST BIOCIENCIAS,DEPT BIOL BR-05508 SAO PAULO BRAZIL HARVARD UNIV,MASSACHUSETTS GEN HOSP,SCH MED,CUTANEOUS BIOL RES CTR BOSTON MA 02129 SHRINERS HOSP CHILDREN PORTLAND OR 97201 JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,DEPT MED BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,DEPT MOL BIOL BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,DEPT GENET BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,DEPT COMPARAT MED & PATHOL BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,HOWARD HUGHES MED INST BALTIMORE MD 21205
Titolo Testata:
Nature genetics
fascicolo: 2, volume: 17, anno: 1997,
pagine: 218 - 222
SICI:
1061-4036(1997)17:2<218:TOTGEF>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEVELOPING MOUSE AORTA; MICROFIBRILS; MUTATIONS; ORGANIZATION; COMPONENT; EXPRESSION; DELETION; REVEALS; MATRIX;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
L. Pereira et al., "TARGETING OF THE GENE ENCODING FIBRILLIN-1 RECAPITULATES THE VASCULARASPECT OF MARFAN-SYNDROME", Nature genetics, 17(2), 1997, pp. 218-222

Abstract

Aortic aneurysm and dissection account for about 2% of all deaths in industrialized countries; they are also components of several genetic diseases, including Marfan syndrome (MFS)(1). The vascular phenotype of MFS results from mutations in fibrillin-1 (FBN1), the major constituent of extracellular microfibrils(2,3). Microfibrils, either associated with or devoid of elastin, give rise to a variety of extracellular networks in elastic and non-elastic tissues(3). It is believed that microfibrils regulate elastic fibre formation by guiding tropo-elastin deposition during embryogenesis and early post-natal life(4). Hence, vascular disease in MFS is thought to result when FBN1 mutations precludeelastic fibre maturation by disrupting microfibrillar assembly, Here we report a gene-targetting experiment in mice that indicates that fibrillin-1 microfibrils are predominantly engaged in tissue homeostasis rather than elastic matrix assembly. This finding, in turn, suggests that aortic dilation is due primarily to the failure by the microfibrillar array of the adventitia to sustain physiological haemodynamic stress, and that disruption of the elastic network of the media is a secondary event.

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Documento generato il 25/11/20 alle ore 06:34:35