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Titolo:
Clonal chromosomal abnormalities in congenital bile duet dilatation (Caroli's disease)
Autore:
Parada, LA; Hallen, M; Hagerstrand, I; Tranberg, KG; Johansson, B;
Indirizzi:
Univ Lund Hosp, Dept Clin Genet, SE-22185 Lund, Sweden Univ Lund Hosp Lund Sweden SE-22185 pt Clin Genet, SE-22185 Lund, Sweden Univ Lund Hosp, Dept Surg, S-22185 Lund, Sweden Univ Lund Hosp Lund Sweden S-22185 Hosp, Dept Surg, S-22185 Lund, Sweden Univ Lund Hosp, Dept Pathol, S-22185 Lund, Sweden Univ Lund Hosp Lund Sweden S-22185 sp, Dept Pathol, S-22185 Lund, Sweden
Titolo Testata:
GUT
fascicolo: 5, volume: 45, anno: 1999,
pagine: 780 - 782
SICI:
0017-5749(199911)45:5<780:CCAICB>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC KIDNEY-DISEASE; LONG-TERM; GENE; LOCALIZATION;
Keywords:
Caroli's disease; bile duct; cytogenetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Parada, LA Univ Lund Hosp, Dept Clin Genet, SE-22185 Lund, Sweden Univ Lund Hosp Lund Sweden SE-22185 et, SE-22185 Lund, Sweden
Citazione:
L.A. Parada et al., "Clonal chromosomal abnormalities in congenital bile duet dilatation (Caroli's disease)", GUT, 45(5), 1999, pp. 780-782

Abstract

Background-Caroli's disease is a-rare congenital disorder characterised bycystic dilatation of the intrahepatic bile ducts and an increased risk of cholangiocellular carcinoma. The cause is unknown, but occasional familial clustering suggests that some cases are inherited, in particular when occurring in association with polycystic kidney disease and germline PKD1 gene mutations. To date, no gene responsible far familial isolated Caroli's disease has been identified, and no genetic investigations of liver tissue from patients with Caroli's disease have been reported. Patient/Method-A liver biopsy specimen from a patient with isolated Caroli's disease, without any signs of cholangiocellular carcinoma, was short term cultured and cytogenetically investigated after G banding with Wright's stain. Result-Cytogenetic analysis disclosed the karyotype 45-47,XX,der(3)t(3;8) (p23;q13), +2mar[cp6]/46,XX[18]. Conclusions-The finding of an unbalanced translocation between chromosomes3 and 8 suggests that loss of distal 3p and/or gain of 8q is of pathogenetic importance in Caroli's disease. Alternatively, structural rearrangementsof genes located in 3p23 and 8q13 may be of the essence. These chromosomalbreakpoints may also pinpoint the location of genes involved in inherited forms of Carolis disease not associated with polycystic kidney disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 14:17:55