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Titolo:
GERMLINE MUTATIONS IN THE 3'-PART OF APC EXON-15 DO NOT RESULT IN TRUNCATED PROTEINS AND ARE ASSOCIATED WITH ATTENUATED ADENOMATOUS POLYPOSIS-COLI
Autore:
VANDERLUIJT RB; KHAN PM; VASEN HFA; BREUKEL C; TOPS CMJ; SCOTT RJ; FODDE R;
Indirizzi:
LEIDEN UNIV,FAC MED,SYLVIUS LAB,MGC,DEPT HUMAN GENET,WASSENAARSEWEG 72 NL-2333 AL LEIDEN NETHERLANDS LEIDEN UNIV,FAC MED,SYLVIUS LAB,MGC,DEPT HUMAN GENET NL-2333 AL LEIDEN NETHERLANDS FDN DETECT HEREDITARY TUMOURS LEIDEN NETHERLANDS KANTONSSPITAL BASEL,DEPT FORSCH BASEL SWITZERLAND
Titolo Testata:
Human genetics
fascicolo: 6, volume: 98, anno: 1996,
pagine: 727 - 734
SICI:
0340-6717(1996)98:6<727:GMIT3O>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
GRADIENT-GEL-ELECTROPHORESIS; LINE MUTATIONS; GENE MUTATION; FAMILIAL POLYPOSIS; COILED-COIL; CANCER; IDENTIFICATION; FAP; PHENOTYPE; CHROMOSOME-5Q21;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
49
Recensione:
Indirizzi per estratti:
Citazione:
R.B. Vanderluijt et al., "GERMLINE MUTATIONS IN THE 3'-PART OF APC EXON-15 DO NOT RESULT IN TRUNCATED PROTEINS AND ARE ASSOCIATED WITH ATTENUATED ADENOMATOUS POLYPOSIS-COLI", Human genetics, 98(6), 1996, pp. 727-734

Abstract

Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the colorectal region. Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for most cases of FAP, Mutations at the 5' end of APC are known to be associated with a relatively mild form of the disease, called attenuated adenomatous polyposis coli (AAPC), We identified a frameshift mutation inthe 3' part of exon 15, resulting in a stop codon at 1862, in a largeDutch kindred with AAPC. Western blot analysis of lymphoblastoid celllines derived from affected family members from this kindred, as wellas from a previously reported Swiss family carrying a frameshift mutation at codon 1987 and displaying a similar attenuated phenotype, showed only the wild-type APC protein. Our study indicates that chain-terminating mutations located in the 3' part of APC do not result in detectable truncated polypeptides and we hypothesize that this is likely tobe the basis for the observed AAPC phenotype.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 07:34:22