3S. Pabst,B. Wollnik,E. Rohmann,Y. Hintz,K. Gl?nzer,H. Vetter,G. Nickenig,Prof. Dr. med. Christian Grohé. A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease[J] 2008,Clinical Research in Cardiology(1):39~42
二级参考文献16
1Hatcher C J, Kim M S, Basson C T. Atrial Form and Function: Lesson from Human Molecular Genetics.Trends Cardiovasc Med, 2000,10: 93 ~ 101
2Pashmforoush M, Lu J T, Chen H, et al. Nkx2-5pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell, 2004,117: 373 ~ 386
3Elliott D A, Kirk E P, Thomas Yeoh. Cardiac Homeobox Gene Nkx2. 5 Mutations and Congenital Heart Disease. J Am Coll Cardiol, 2003,41: 2072~ 2076
4Elizabeth G E, Geiger E, Benson D W. Nkx2.5mutations in patients with tetralogy of fallot.Circulation, 2001,104 : 2565 ~ 2568
5McElhinney D B, Geiger E, Blinder J, et al. Nkx2.5mutations in patients with congenital heart disease. J Am Coll Cardiol, 2003,42:1650~1655
6Benson D W, Silberbach G M, McHugh A K, et al.Mutations in the cardiac transcription factor Nkx2.5affect diverse cardiac developmental pathways. J Clin Invest, 1999,104:1567~1573
7Jay P Y, Harris B S, Maguire C T, et al. Nkx2-5mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest, 2004,113:1130~1137
8Schott J J, Benson D W, Basson C T, et al. Congenital heart disease caused by mutations in the transcription factor Nkx2.5. Science, 1998,281 : 108~111
9Larsen WJ. Human Embryology. Health Science Asia, Elsevier Science. 3rd ed. Amsterdam,2002. 157-193.
10Sepulveda JL, Vlahopoulos S, Iyer D, et al. Combinatorial ex-pression of GATA4, Nkx2-5, and serum response factor directsearly cardiac gene activity. J Biol Chem, 2002,277 : 25775-25782.