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Titolo:
A NOVEL POINT MUTATION IN THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA AND IN A FAMILY WITH FMTC
Autore:
ENG C; SMITH DP; MULLIGAN LM; HEALEY CS; ZVELEBIL MJ; STONEHOUSE TJ; PONDER MA; JACKSON CE; WATERFIELD MD; PONDER BAJ;
Indirizzi:
UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP CAMBRIDGE CB21QP ENGLAND UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP CAMBRIDGE CB21QP ENGLAND HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DEPT MED,DIV MED ONCOL BOSTON MA 02115 HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DEPT MED,DIV CANC EPIDEMIOL & CONTROL BOSTON MA 02115 QUEENS UNIV,DEPT PEDIAT KINGSTON ON K7L 3N6 CANADA QUEENS UNIV,DEPT PATHOL KINGSTON ON K7L 3N6 CANADA LUDWIG INST CANC RES LONDON W1P 8BT ENGLAND HENRY FORD HOSP,DEPT MED DETROIT MI 48202 UNIV COLL LONDON,DEPT BIOCHEM & MOLEC BIOL LONDON ENGLAND
Titolo Testata:
Oncogene
fascicolo: 3, volume: 10, anno: 1995,
pagine: 509 - 513
SICI:
0950-9232(1995)10:3<509:ANPMIT>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE ENDOCRINE NEOPLASIA; PROTOONCOGENE; FEATURES;
Keywords:
MULTIPLE ENDOCRINE NEOPLASIA TYPE 2; RECEPTOR TYROSINE KINASE GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
C. Eng et al., "A NOVEL POINT MUTATION IN THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA AND IN A FAMILY WITH FMTC", Oncogene, 10(3), 1995, pp. 509-513

Abstract

Germline mutations within one of six codons of the RET proto-oncogeneaccount for the majority of cases of multiple endocrine neoplasia (MEN) type 2A and type 2B and familial medullary thyroid carcinoma (FMTC). MEN 2A and FMTC mutations characterised thus far occur exclusively in the cysteine-rich domain of the extracellular region of RET. We now report a missense mutation in the intracellular tyrosine kinase domainof RET in the germline of a family with FMTC that does not have a cysteine codon mutation. In this family, the mutation, which alters GAG (GIu) to GAC (Asp) at codon 768, segregates with the FMTC phenotype. The same mutation was also detected in sporadic MTC but not in corresponding constitutional DNA, confirming that it is likely to be of pathological significance rather than a rare polymorphism.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 16:44:32