NKX.5 and congenital heart defects:: A population-based study

被引：14

作者：

Hobbs, CA ^{[1
]}

Cleves, MA ^{[1
]}

Keith, C ^{[1
]}

Ghaffar, S ^{[1
]}

James, SJ ^{[1
]}

机构：

[1] Univ Arkansas Med Sci, Coll Med, Dept Pediat, Little Rock, AR 72205 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 134A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.30509

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：223 / 225

页数：3

共 21 条

[1] Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways [J].

Benson, DW ;

Silberbach, GM ;

Kavanaugh-McHugh, A ;

Cottrill, C ;

Zhang, YZ ;

Riggs, S ;

Smalls, O ;

Johnson, MC ;

Watson, MS ;

Seidman, JG ;

Seidman, CE ;

Plowden, J ;

Kugler, JD .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (11) :1567-1573

[2] Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5 [J].

Biben, C ;

Weber, R ;

Kesteven, S ;

Stanley, E ;

McDonald, L ;

Elliott, DA ;

Barnett, L ;

Köentgen, F ;

Robb, L ;

Feneley, M ;

Harvey, RP .

CIRCULATION RESEARCH, 2000, 87 (10) :888-895

[3] Human genome - HapMap launched with pledges of $100 million [J].

Couzin, J .

SCIENCE, 2002, 298 (5595) :941-942

[4] Cardiac homeobox gene NKX2-5 mutations and congenital heart disease -: Associations with atrial septal defect and hypoplastic left heart syndrome [J].

Elliott, DA ;

Kirk, EP ;

Yeoh, T ;

Chandar, S ;

McKenzie, F ;

Taylor, P ;

Grossfeld, P ;

Fatkin, D ;

Jones, O ;

Hayes, P ;

Feneley, M ;

Harvey, RP .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 41 (11) :2072-2076

[5] NKX2.5 mutations in patients with tetralogy of Fallot [J].

Goldmuntz, E ;

Geiger, E ;

Benson, DW .

CIRCULATION, 2001, 104 (21) :2565-2568

[6] Tinman function is essential for vertebrate heart development:: Elimination of cardiac differentiation by dominant inhibitory mutants of the tinman-related genes, XNkx2-3 and XNkx2-5 [J].

Grow, MW ;

Krieg, PA .

DEVELOPMENTAL BIOLOGY, 1998, 204 (01) :187-196

[7] Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient [J].

Hosoda, T ;

Komuro, I ;

Shiojima, I ;

Hiroi, Y ;

Harada, M ;

Murakawa, Y ;

Hirata, Y ;

Yazaki, Y .

JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION, 1999, 63 (05) :425-426

[8] Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease [J].

Ikeda, Y ;

Hiroi, Y ;

Hosoda, T ;

Utsunomiya, T ;

Matsuo, S ;

Ito, T ;

Inoue, J ;

Sumiyoshi, T ;

Takano, H ;

Nagai, R ;

Komuro, I .

CIRCULATION JOURNAL, 2002, 66 (06) :561-563

[9] Replication validity of genetic association studies [J].

Ioannidis, JPA ;

Ntzani, EE ;

Trikalinos, TA ;

Contopoulos-Ioannidis, DG .

NATURE GENETICS, 2001, 29 (03) :306-309

[10] Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein [J].

Kasahara, H ;

Wakimoto, H ;

Liu, M ;

Maguire, CT ;

Converso, KL ;

Shioi, T ;

Huang, WY ;

Manning, WJ ;

Paul, D ;

Lawitts, J ;

Berul, CI ;

Izumo, S .

JOURNAL OF CLINICAL INVESTIGATION, 2001, 108 (02) :189-201

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