Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26
Autore:
Ciccarese, M; Pacifico, A; Tonolo, G; Pintus, P; Nikoshkov, A; Zuliani, G; Fellin, R; Luthman, H; Maioli, M;
Indirizzi:
Univ Sassari, Dept Internal Med, Metab Dis Unit, I-07100 Sassari, Italy Univ Sassari Sassari Italy I-07100 etab Dis Unit, I-07100 Sassari, Italy Karolinska Inst, Dept Mol Med, Stockholm, Sweden Karolinska Inst Stockholm Sweden Inst, Dept Mol Med, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Inst Stockholm Sweden a Inst, Ctr Mol Med, Stockholm, Sweden G Brotzu Hosp, Metab Dis Unit, Cagliari, Italy G Brotzu Hosp Cagliari Italy otzu Hosp, Metab Dis Unit, Cagliari, Italy Univ Ferrara, Dept Internal Med 2, I-44100 Ferrara, Italy Univ Ferrara Ferrara Italy I-44100 nternal Med 2, I-44100 Ferrara, Italy
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 2, volume: 66, anno: 2000,
pagine: 453 - 460
SICI:
0002-9297(200002)66:2<453:ANLFAR>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL HYPERCHOLESTEROLEMIA; LDL-RECEPTOR; PLASMA-LIPIDS; LINKAGE; DENSITY; LIPOPROTEINS; CHOLESTEROL; ARP-1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Ciccarese, M Univ Sassari, Dept Internal Med, Metab Dis Unit, V San Pietro8, I-07100 Sassari, Italy Univ Sassari V San Pietro 8 Sassari Italy I-07100 ari, Italy
Citazione:
M. Ciccarese et al., "A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26", AM J HU GEN, 66(2), 2000, pp. 453-460

Abstract

High serum cholesterol is an established risk factor for cardiovascular disease and is the prime target for therapeutic intervention in large groups of patients. The development of modern treatments for this major risk factor was propelled by the early realization that forms of severe hypercholesterolemia could be caused by dominantly inherited defects in the LDL receptoror in the APOB gene. Further understanding of the mechanisms contributing to early atherosclerosis will allow for new targets for therapy. We therefore identified and investigated the genetics of families from Sardinia that have recessive inheritance of precocious hypercholesterolemia. We used fivefamilies in an analysis of linkage of the autosomal recessive hypercholesterolemia locus, termed "ARH1," to chromosome 15q25-q26. A genomewide searchmapped the disease-causing gene with a LOD score of 3.3 and excluded majorcontributions to the phenotype of other genes. A candidate gene present inthe mapped chromosome region-the ligand-activated liver-transcription-factor gene ARP1 (apolipoprotein regulatory-protein gene)-has been excluded after DNA sequencing. The close-bred nature of the Sardinian population offersunique opportunities for isolation of this hypercholesterolemia-causing gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 07:00:16