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Titolo:
MUTATIONS OF THE NF1 GENE IN CHILDREN WITH JUVENILE MYELOMONOCYTIC LEUKEMIA WITHOUT CLINICAL-EVIDENCE OF NEUROFIBROMATOSIS, TYPE-1
Autore:
SIDE LE; EMANUEL PD; TAYLOR B; FRANKLIN J; THOMPSON P; CASTLEBERRY RP; SHANNON KM;
Indirizzi:
UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,BOX 0519,513 PARNASSUS AVE SAN FRANCISCO CA 94143 UNIV CALIF SAN FRANCISCO,DEPT PEDIAT SAN FRANCISCO CA 94143 UNIV ALABAMA,DIV HEMATOL ONCOL,DEPT PEDIAT BIRMINGHAM AL 35294 UNIV ALABAMA,DEPT MED BIRMINGHAM AL 35294 UNIV SO CALIF & CHILDRENS HOSP LOS ANGELES CA 90089
Titolo Testata:
Blood
fascicolo: 1, volume: 92, anno: 1998,
pagine: 267 - 272
SICI:
0006-4971(1998)92:1<267:MOTNGI>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
GTPASE-ACTIVATING PROTEIN; MALIGNANT MYELOID DISORDERS; COLONY-STIMULATING FACTOR; VONRECKLINGHAUSEN NEUROFIBROMATOSIS; MYELODYSPLASTIC SYNDROMES; HUMAN TUMORS; RAS; CHILDHOOD; GAP; HYPERSENSITIVITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
53
Recensione:
Indirizzi per estratti:
Citazione:
L.E. Side et al., "MUTATIONS OF THE NF1 GENE IN CHILDREN WITH JUVENILE MYELOMONOCYTIC LEUKEMIA WITHOUT CLINICAL-EVIDENCE OF NEUROFIBROMATOSIS, TYPE-1", Blood, 92(1), 1998, pp. 267-272

Abstract

Juvenile myelomonocytic leukemia (JMML) is a pediatric myelodysplastic syndrome that is associated with neurofibromatosis, type 1 (NF1). The NF1 tumor suppressor gene encodes neurofibromin, which regulates thegrowth of immature myeloid cells by accelerating guanosine triphosphate hydrolysis on Ras proteins, The purpose of this study was to determine if the NF1 gene was involved in the pathogenesis of JMML in children without a clinical diagnosis of NF1. An in vitro transcription and translation system was used to screen JMML marrows from 20 children for NF1 mutations that resulted in a truncated protein. Single stranded conformational polymorphism analysis was used to detect RAS point mutations in these samples. We confirmed mutations of NF1 in three leukemias, one of which also showed loss of the normal NF1 allele. An NF1 mutation was detected in normal tissue from the only patient tested and this suggests that JMML may be the presenting feature of NF1 in some children, Activating RAS mutations were found in four patients; as expected, none of these samples harbored NF1 mutations. Because 10% to 14% of children with JMML have a clinical diagnosis of NF1, these data areconsistent with the existence of NF1 mutations in approximately 30% of JMML cases. (C) 1998 by The American Society of Hematology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 08:16:51