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Titolo:
A 'two-hit' model of cystogenesis in autosomal dominant polycystic kidney disease?
Autore:
Pei, Y;
Indirizzi:
Univ Toronto, Hlth Network, Dept Med, Div Nephrol, Toronto, ON M5G 2C4, Canada Univ Toronto Toronto ON Canada M5G 2C4 phrol, Toronto, ON M5G 2C4, Canada Univ Toronto, Hlth Network, Dept Med, Div Genomic Med, Toronto, ON M5G 2C4, Canada Univ Toronto Toronto ON Canada M5G 2C4 c Med, Toronto, ON M5G 2C4, Canada
Titolo Testata:
TRENDS IN MOLECULAR MEDICINE
fascicolo: 4, volume: 7, anno: 2001,
pagine: 151 - 156
SICI:
1471-4914(200104)7:4<151:A'MOCI>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
OF-FUNCTION MODEL; MOLECULAR-GENETICS; SOMATIC MUTATIONS; EPITHELIAL-CELLS; CYST FORMATION; 2-HIT MODEL; PKD2 GENE; PATHOGENESIS; MICE; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Pei, Y Univ Toronto, Hlth Network, Dept Med, Div Nephrol, 100 Coll St, Toronto, ON M5G 2C4, Canada Univ Toronto 100 Coll St Toronto ON Canada M5G 2C4 M5G 2C4, Canada
Citazione:
Y. Pei, "A 'two-hit' model of cystogenesis in autosomal dominant polycystic kidney disease?", TRENDS MO M, 7(4), 2001, pp. 151-156

Abstract

An intriguing feature of autosomal dominant polycystic kidney disease (ADPKD) is the focal and sporadic nature of individual cyst formation. Typically, only a few renal cysts are detectable in an affected individual during the first two decades of life. By the fifth decade, however, hundreds to thousands of renal cysts can be found in most patients. Additionally, significant intra-familial variability of ADPKD has been well documented. Taken together, these findings suggest that factor(s) in addition to the germline mutation of a polycystic kidney disease gene might be required for individualcyst formation. Indeed, recent studies have provided compelling evidence in support of a 'two-hit' model of cystogenesis in ADPKD. In this model, inactivation of both copies of a polycystic kidney disease gene by germline and somatic mutations within an epithelial cell provides growth advantages for it to proliferate clonally into a cyst. This article highlights key findings of these recent studies and discusses the controversies and implications of the 'two-hit' model in ADPKD.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/20 alle ore 10:35:52