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Titolo:
IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE TSC1 ON CHROMOSOME 9Q34
Autore:
VANSLEGTENHORST M; DEHOOGT R; HERMANS C; NELLIST M; JANSSEN B; VERHOEF S; LINDHOUT D; VANDENOUWELAND A; HALLEY D; YOUNG J; BURLEY M; JEREMIAH S; WOODWARD K; NAHMIAS J; FOX M; EKONG R; OSBORNE J; WOLFE J; POVEY S; SNELL RG; CHEADLE JP; JONES AC; TACHATAKI M; RAVINE D; SAMPSON JR; REEVE MP; RICHARDSON P; WILMER F; MUNRO C; HAWKINS TL; SEPP T; ALI JBM; WARD S; GREEN AJ; YATES JRW; KWIATKOWSKA J; HENSKE EP; SHORT MP; HAINES JH; JOZWIAK S; KWIATKOWSKI DJ;
Indirizzi:
BRIGHAM & WOMENS HOSP,DIV EXPT MED & MED ONCOL,75 FRANCIS ST BOSTON MA 02115 BRIGHAM & WOMENS HOSP,DIV EXPT MED & MED ONCOL BOSTON MA 02115 ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET NL-3000 DR ROTTERDAM NETHERLANDS UNIV ROTTERDAM HOSP ROTTERDAM NETHERLANDS UNIV LONDON UNIV COLL,MRC,HUMAN BIOCHEM GENET UNIT LONDON NW1 2HE ENGLAND UNIV LONDON UNIV COLL,GALTON LAB LONDON NW1 2HE ENGLAND UNIV BATH BATH BA2 7AY AVON ENGLAND UNIV WALES COLL MED,INST MED GENET CARDIFF CF4 4XN S GLAM WALES MIT,WHITEHEAD INST BIOMED RES,CTR GENOME RES CAMBRIDGE MA 02139 UNIV CAMBRIDGE,ADDENBROOKES NHS TRUST,DEPT PATHOL CAMBRIDGE CB2 2QQ ENGLAND UNIV CAMBRIDGE,ADDENBROOKES NHS TRUST,DEPT MED GENET CAMBRIDGE CB2 2QQ ENGLAND UNIV CHICAGO,SCH MED,DEPT CHILD NEUROL CHICAGO IL 60637 MASSACHUSETTS GEN HOSP,MOL NEUROGENET UNIT BOSTON MA 02129 CHILDRENS HLTH CTR,DIV CHILD NEUROL PL-04736 WARSAW POLAND
Titolo Testata:
Science
fascicolo: 5327, volume: 277, anno: 1997,
pagine: 805 - 808
SICI:
0036-8075(1997)277:5327<805:IOTTSG>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC KIDNEY-DISEASE; ABO BLOOD-GROUP; DIAGNOSTIC-CRITERIA; HETEROGENEITY; LINKAGE; LOCUS; LOCALIZATION; MUTATION; AUTISM; 16P13;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
54
Recensione:
Indirizzi per estratti:
Citazione:
M. Vanslegtenhorst et al., "IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE TSC1 ON CHROMOSOME 9Q34", Science, 277(5327), 1997, pp. 805-808

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termedhamartomas. TSC-determining loci have been mapped to chromosomes 9q34(TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of whichwere truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutationin the wild-type allele was found in a TSC-assaciated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:04:58