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Titolo:
Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
Autore:
Satoh, M; Takahashi, M; Sakamoto, T; Hiroe, M; Marumo, F; Kimura, A;
Indirizzi:
Tokyo Med & Dent Univ, Inst Med Res, Div Adult Dis, Dept Mol Pathogenesis,Chiyoda Ku, Tokyo 1010062, Japan Tokyo Med & Dent Univ Tokyo Japan 1010062 iyoda Ku, Tokyo 1010062, Japan Tokyo Med & Dent Univ, Dept Internal Med 2, Tokyo 1138519, Japan Tokyo Med& Dent Univ Tokyo Japan 1138519 al Med 2, Tokyo 1138519, Japan Hanzomon Hosp, Dept Med, Tokyo 1020083, Japan Hanzomon Hosp Tokyo Japan 1020083 n Hosp, Dept Med, Tokyo 1020083, Japan Tokyo Med & Dent Univ, Inst Med Res, Etiol & Pathogenesis Res Unit, Tokyo 1010062, Japan Tokyo Med & Dent Univ Tokyo Japan 1010062 Res Unit, Tokyo 1010062, Japan
Titolo Testata:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
fascicolo: 2, volume: 262, anno: 1999,
pagine: 411 - 417
SICI:
0006-291X(19990827)262:2<411:SAOTTG>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
CARDIAC TROPONIN-T; PROTEIN-C GENE; BETA-MYOSIN; ALPHA-ACTININ; MISSENSE MUTATION; SKELETAL-MUSCLE; Z-DISK; EXPRESSION; TWITCHIN; ELEGANS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Kimura, A Tokyo Med & Dent Univ, Inst Med Res, Div Adult Dis, Dept Mol Pathogenesis,Chiyoda Ku, Kandasurugadai 2-3-20, Tokyo 1010062, Japan Tokyo Med& Dent Univ Kandasurugadai 2-3-20 Tokyo Japan 1010062
Citazione:
M. Satoh et al., "Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene", BIOC BIOP R, 262(2), 1999, pp. 411-417

Abstract

Hypertrophic cardiomyopathy (HCM) is characterized by ventricular hypertrophy accompanied by myofibrillar disarrays. Molecular genetic analyses have revealed that mutations in 8 different genes cause HCM, Mutations in these disease genes, however, could be found in about half of HCM patients, suggesting that there are other unknown disease gene(s), Because the known disease genes encode sarcomeric proteins expressed in the cardiac muscle, we searched for a disease-associated mutation in the titin gene in 82 HCM patients who had no mutation in the known disease genes. A G: to T transversion incodon 740, from CGC to CTC, replacing Arginine with Leucine was found in apatient. This mutation was not found in more than 500 normal chromosomes and increased the binding affinity of titin to alpha-actitin in the yeast two-hybrid assay. These observations suggest that the titin mutation may cause HCM in this patient via altered affinity to alpha-actinin. (C) 1999 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 18:02:09