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Titolo:
RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS
Autore:
BOLINO A; SCHUFFENECKER I; LUO Y; SERI M; SILENGO M; TOCCO T; CHABRIER G; HOUDENT C; MURAT A; SCHLUMBERGER M; TOURNIAIRE J; LENOIR GM; ROMEO G;
Indirizzi:
IST GIANNINA GASLINI,GENET MOLEC LAB I-16148 GENOA ITALY IST GIANNINA GASLINI,GENET MOLEC LAB I-16148 GENOA ITALY HOP EDOUARD HERRIOT,GENET LAB LYON 03 FRANCE UNIV TURIN,IST SCI PEDIAT I-10100 TURIN ITALY HOP HAUTE PIERRE,SERV MED INTERNE STRASBOURG FRANCE HOP BOIS GUILLAUME,SERV ENDOCRINOL ROUEN FRANCE HOP HOTEL DIEU,SERV ENDOCRINOL NANTES FRANCE INST GUSTAVE ROUSSY,NUCL MED SERV PARIS FRANCE HOP ANTIQUAILLE,SERV ENDOCRINOL LYON FRANCE
Titolo Testata:
Oncogene
fascicolo: 12, volume: 10, anno: 1995,
pagine: 2415 - 2419
SICI:
0950-9232(1995)10:12<2415:RMIEAE>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
ENDOCRINE NEOPLASIA TYPE-2A; CHROMOSOME 10Q11.2; PROTOONCOGENE; GENE; LINKAGE; REGION; MEN2A; LOCUS; MAP; 2A;
Keywords:
FAMILIAL MEDULLARY THYROID CARCINOMA; RET PROTOONCOGENE; MUTATIONS; SINGLE STRAND CONFORMATION POLYMORPHISM;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
A. Bolino et al., "RET MUTATIONS IN EXON-13 AND EXON-14 OF FMTC PATIENTS", Oncogene, 10(12), 1995, pp. 2415-2419

Abstract

RET is a receptor tyrosine kinase gene which is responsible for threedifferent inherited cancer syndromes namely multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) as web as for Hirschsprung disease (HSCR), a congenital disorder affecting the intestinal motility. Germ-line mutations in the RET exons 10 and 11 were demonstrated in the majority of the MEN 2A and FMTC patients, On the other hand, one codon of RET exon 16 is preferentially changed in MEN 2B patients, Recently, a germ-line mutation in the exon 13 was described in one FMTC family as well as in four sporadic MTCs. In the present study, we observed the same exon 13 mutation in two FMTC families. In addition, we identified a previously unreported substitution of RET exon 14 in two unrelated FMTC families. Both mutations segregate with the disease in these four FMTC families andinvolve the tyrosine kinase domain of RET. Haplotype analysis using polymorphic markers tightly Linked to the RET gene indicates that in each pedigree the mutation arose as an independent event.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 06:22:59