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Titolo:
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
Autore:
Biben, C; Weber, R; Kesteven, S; Stanley, E; McDonald, L; Elliott, DA; Barnett, L; Koentgen, F; Robb, L; Feneley, M; Harvey, RP;
Indirizzi:
Victor Chang Cardiac Res Inst, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst Darlinghurst NSW Australia 2010 , Australia Royal Melbourne Hosp, Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia Royal Melbourne Hosp Parkville Vic Australia 3050 le, Vic 3050, Australia St Vincents Hosp, Dept Cardiol, St Darlinghurst, NSW, Australia St Vincents Hosp St Darlinghurst NSW Australia linghurst, NSW, Australia Univ New S Wales, Fac Med, Kensington, NSW, Australia Univ New S Wales Kensington NSW Australia ed, Kensington, NSW, Australia Univ New S Wales, Fac Life Sci, Kensington, NSW, Australia Univ New S Wales Kensington NSW Australia ci, Kensington, NSW, Australia
Titolo Testata:
CIRCULATION RESEARCH
fascicolo: 10, volume: 87, anno: 2000,
pagine: 888 - 895
SICI:
0009-7330(20001110)87:10<888:CSAVDI>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
PATENT FORAMEN OVALE; TINMAN-RELATED GENES; HEART DEVELOPMENT; TRANSESOPHAGEAL ECHOCARDIOGRAPHY; EXPRESSION; DEFECTS; MOUSE; CELLS;
Keywords:
atrial septal defect; bicuspid aortic valve; atrioventricular conduction block; patent foramen ovale;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Harvey, RP Victor Chang Cardiac Res Inst, 384 Victoria St, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst 384 Victoria St Darlinghurst NSW Australia 2010
Citazione:
C. Biben et al., "Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5", CIRCUL RES, 87(10), 2000, pp. 888-895

Abstract

Heterozygous mutations in the cardiac homeobox gene, NKX2-5, underlie familial cases of atrial septal defect (ASD) with severe atrioventricular conduction block. In this study, mice heterozygous for Nkx2-5-null alleles were assessed for analogous defects. Although ASD occurred only rarely, atrial septal dysmorphogenesis was evident as increased frequencies of patent foramen ovale and septal aneurysm, and decreased length of the septum primum flap valve. These parameters were compounded by genetic background effects, and in the 139/Sv strain, septal dysmorphogenesis bordered on ASD in 17% of Nkx2-5 heterozygotes. In a proportion of neonatal heterozygotes, as well as in adults with ASD, we found that the size of the foramen ovale was significantly enlarged and altered in shape, potentially exposing the normally thin septum primum to excessive hemodynamic forces. Therefore, defective morphogenesis of the septum secundum may be one contributing factor in the generation of patent foramen ovale, septal aneurysm, and certain ASDs. Mild prolongation of P-R interval in females and an increased frequency of stenotic bicuspid aortic valves were also features of the Nkx2-5 heterozygous phenotype. Our data demonstrate that the complex effects of Nkx2-5 haploinsufficiency in mice are weaker but convergent with those in humans. As in the mouse, the phenotype of human NKX2-5 mutations may be modulated by interacting alleles.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 13:06:19