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Titolo:
Idiopathic slow-transit constipation is not associated with mutations of the RET proto-oncogene or GDNF
Autore:
Knowles, CH; Gayther, SA; Scott, M; Ramus, S; Anand, P; Williams, NS; Ponder, BA;
Indirizzi:
Royal London Hosp, St Bartholomews & Royal London Sch Med & Dent, Acad Dept Surg, London E1 1BB, England Royal London Hosp London England E1 1BB ept Surg, London E1 1BB, England St Bartholomews & Royal London Sch Med & Dent, Acad Dept Neurol, London E11BB, England St Bartholomews & Royal London Sch Med & Dent London EnglandE1 1BB land Univ Cambridge, Addenbrookes Hosp, CRC, Human Canc Genet Grp, Cambridge CB2 2QQ, England Univ Cambridge Cambridge England CB2 2QQ Grp, Cambridge CB2 2QQ, England
Titolo Testata:
DISEASES OF THE COLON & RECTUM
fascicolo: 6, volume: 43, anno: 2000,
pagine: 851 - 857
SICI:
0012-3706(200006)43:6<851:ISCINA>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
HIRSCHSPRUNG-DISEASE; GERMLINE MUTATIONS; GENE; RECEPTOR; PROTOONCOGENE; MUSCLE; TIME;
Keywords:
anorectal; enteric nervous system; Hirschsprung's disease; RET proto-oncogene; slow-transit constipation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Knowles, CH Royal London Hosp, St Bartholomews & Royal London Sch Med & Dent, Acad Dept Surg, 4th Floor Alexandra Wing, London E1 1BB, England Royal London Hosp 4th Floor Alexandra Wing London England E1 1BB
Citazione:
C.H. Knowles et al., "Idiopathic slow-transit constipation is not associated with mutations of the RET proto-oncogene or GDNF", DIS COL REC, 43(6), 2000, pp. 851-857

Abstract

PURPOSE: Idiopathic slow-transit constipation is a severe disorder of unknown cause. The onset in early childhood and history of constipation or Hirschsprung's disease in close family relatives suggest that slow-transit constipation could have a genetic basis. Several germline mutations have been described in Hirschsprung's disease, including mutations of RET and the geneencoding its ligand glial cell-derived neurotrophic factor. The aim of this study was to screen a panel of 16 cases of familial idiopathic slow-transit constipation, including 4 families in which there were relatives with Hirschsprung's disease, for RET and glial cell-derived neurotrophic factor mutations previously identified in Hirschsprung's disease. METHODS: Genomic DNA from 16 patients with slow-transit constipation and four relatives with Hirschsprung's disease was analyzed using single strand and heteroduplex conformation polymorphism analysis at two conditions and by direct DNA sequencing using the fluorescent dideoxy terminator method. RESULTS: Although common sequence polymorphisms were demonstrated with a frequency comparable with published data, no published or new mutation was seen in any of the exons of RET or glial cell-derived neurotrophic factor. CONCLUSIONS: Mutation of RET or glial cell-derived neurotrophic factor is not a frequent cause of idiopathic slow-transit constipation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 09:03:06