Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

被引：129

作者：

Sarkozy, A

Conti, E

Neri, C

D'Agostino, R

Digilio, MC

Esposito, G

Toscano, A

Marino, B

Pizzuti, A

Dallapiccola, B

机构：

[1] CSS Mendel Inst, I-00198 Rome, Italy

[2] IRCCS, CSS Hosp, San Giovanni Rotondo, Italy

[3] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[4] Univ Roma La Sapienza, Dept Pediat, Pediat Cardiol Sect, Rome, Italy

[5] Bambino Gesu Pediat Hosp, IRCCS, Div Med Genet, Rome, Italy

[6] Bambino Gesu Pediat Hosp, IRCCS, Div Pediat Cardiol, Rome, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 02期

关键词：

D O I：

10.1136/jmg.2004.026740

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：5

共 33 条

[1] Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome [J].

Basson, CT ;

Bachinsky, DR ;

Lin, RC ;

Levi, T ;

Elkins, JA ;

Soults, J ;

Grayzel, D ;

Kroumpouzou, E ;

Traill, TA ;

LeblancStraceski, J ;

Renault, B ;

Kucherlapati, R ;

Seidman, JG ;

Seidman, CE .

NATURE GENETICS, 1997, 15 (01) :30-35

[2] 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

[3] A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease [J].

Bruneau, BG ;

Nemer, G ;

Schmitt, JP ;

Charron, F ;

Robitaille, L ;

Caron, S ;

Conner, DA ;

Gessler, M ;

Nemer, M ;

Seidman, CE ;

Seidman, JG .

CELL, 2001, 106 (06) :709-721

[4]

Digilio MC, 1998, AM J MED GENET, V75, P534, DOI 10.1002/(SICI)1096-8628(19980217)75:5<534::AID-AJMG15>3.0.CO

[5]

2-L

[6] The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors [J].

Durocher, D ;

Charron, F ;

Schwartz, RJ ;

Warren, R ;

Nemer, M .

EMBO JOURNAL, 1997, 16 (18) :5687-5696

[7] 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

[8] GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 [J].

Garg, V ;

Kathiriyra, IS ;

Barnes, R ;

Schluterman, MK ;

King, IN ;

Butler, CA ;

Rothrock, CR ;

Eapen, RS ;

Hirayama-Yamada, K ;

Joo, K ;

Matsuoka, R ;

Cohen, JC ;

Srivastava, D .

NATURE, 2003, 424 (6947) :443-447

[9]

Giglio S, 2000, CIRCULATION, V102, P432

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

Goldmuntz, E ;

Geiger, E ;

Benson, DW .

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

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