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Titolo:
A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural systemtumour syndrome family
Autore:
Randerson-Moor, JA; Harland, M; Williams, S; Cuthbert-Heavens, D; Sheridan, E; Aveyard, J; Sibley, K; Whitaker, L; Knowles, M; Bishop, JN; Bishop, DT;
Indirizzi:
St James Univ Hosp, Imperial Canc Res Fund, Ctr Clin, Genet Epidemiol Div,Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp Leeds W Yorkshire England LS9 7TF W Yorkshire, England St James Univ Hosp, Imperial Canc Res Fund, Ctr Clin, Genet Mol Lab, LeedsLS9 7TF, W Yorkshire, England St James Univ Hosp Leeds W Yorkshire EnglandLS9 7TF W Yorkshire, England St James Univ Hosp, Imperial Canc Res Fund, Mutat Detect Facil, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp Leeds W Yorkshire England LS97TF W Yorkshire, England St James Univ Hosp, Imperial Canc Res Fund, Ctr Clin, Canc Med Unit, LeedsLS9 7TF, W Yorkshire, England St James Univ Hosp Leeds W Yorkshire EnglandLS9 7TF W Yorkshire, England
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 1, volume: 10, anno: 2001,
pagine: 55 - 62
SICI:
0964-6906(20010101)10:1<55:AGDOPB>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
CUTANEOUS MALIGNANT-MELANOMA; NERVOUS-SYSTEM; INK4 LOCUS; MUTATIONS; CANCER; GENE; P19(ARF); PROTEIN; CDK4; MDM2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Bishop, DT St James Univ Hosp, Imperial Canc Res Fund, Ctr Clin, Genet Epidemiol Div,Canc Genet Bldg, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp Canc Genet Bldg Leeds W Yorkshire England LS9 7TF
Citazione:
J.A. Randerson-Moor et al., "A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural systemtumour syndrome family", HUM MOL GEN, 10(1), 2001, pp. 55-62

Abstract

The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1 beta have been reported in kindreds, implicating contiguous tumour suppressor gene deletion as a cause of this syndrome. We describe a family characterized by multiple melanoma and neural cell tumours segregating with a germline deletion of the p14(ARF)-specific exon 1 beta of the CDKN2A gene. This deletion does not affect the coding or minimal promoter sequences of either the CDKN2A or CDKN2B genes. Our results are consistent with either: (i) loss of p14(ARF) function being the critical abnormality associated with this syndrome, rather than contiguous loss of both the CDKN2A and CDKN2B genes as suggested previously; or (ii) disruption of expression of p16by mechanisms as yet unknown.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 09:07:46