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Titolo:
Mutations of the human polycystic kidney disease 2 (PKD2) gene
Autore:
Deltas, CC;
Indirizzi:
Cyprus Inst Neurol & Genet, Nicosia, Cyprus Cyprus Inst Neurol & Genet Nicosia Cyprus urol & Genet, Nicosia, Cyprus
Titolo Testata:
HUMAN MUTATION
fascicolo: 1, volume: 18, anno: 2001,
pagine: 13 - 24
SICI:
1059-7794(2001)18:1<13:MOTHPK>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
OF-FUNCTION MODEL; 2ND GENE; MOLECULAR-GENETICS; CYST FORMATION; TYPE-2; IDENTIFICATION; EXPRESSION; PROTEIN; FAMILY; LOCALIZATION;
Keywords:
autosomal dominant polycystic kidney disease; ADPKD; ADPKD2; PKD2; polycystin-2; renal failure, end-stage; ESRF; mutation screening; inherited nephropathy; ion channel; trans-heterozygosity; two-hit; late onset;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
76
Recensione:
Indirizzi per estratti:
Indirizzo: Deltas, CC Cyprus Inst Neurol & Genet, POB 23462, Nicosia, Cyprus Cyprus Inst Neurol & Genet POB 23462 Nicosia Cyprus a, Cyprus
Citazione:
C.C. Deltas, "Mutations of the human polycystic kidney disease 2 (PKD2) gene", HUM MUTAT, 18(1), 2001, pp. 13-24

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. It is one of the most frequent inherited conditions affecting approximately1:1,000 Caucasians. Two major genes have been identified and characterizedin detail: PKD1 and PKD2, mapping on chromosomes 16p13.3 and 4q21-23, respectively. A third gene, PKD3, has been implicated in selected families. Polycystic kidney disease of types 1 or 2 follows a veri similar course of symptoms, both being multisystem pleiotropic disorders of indistinguishable picture on clinical grounds. The only difference is that patients with PKD2 mutations run a milder course compared to PKD1 carriers, with an average 10-20 years later age of onset and lower probability to reach end-stage-renal failure. The proteins polycystin-1 and -2 are transmembranous glycoproteinshypothesized to participate in a common signaling pathway, interacting with each other and with other proteins, and coordinately expressed in normal and cystic tissue. Renal cysts most probably arise after a second somatic event, which inactivates the inherited healthy allele of the same gene, or perhaps one of the alleles of the other gene counterpart, generating a trans-heterozygous state. This article reviews the reported mutations in PKD2. Mutations of all kinds have been reported over the entire sequence of the PKD2 gene, with no apparent significant clustering and with some evidence of genotype/phenotype correlation. Most families harbor their own private mutations but a few recurrent events have been reported in unrelated families. Hum Mutat 18:13-24, 2001. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:29:39