[1]
|
Clark KL,Yutzey KE,Benson DW.Transcription factors and congenital heart defects[J].Annu Rev Physiol,2006,68:97-121. |
[2]
|
Ransom J,Srivastava D.The genetics of cardiac birth defects[J].Semin Cell Dev Biol,2007,18(1):132-139. |
[3]
|
Pang S,Shan J,Qiao Y,et al.Genetic and functional analysis of the nkx 2.5 gene promoter in patients with ventricular septal defects[J].Pediatr Cardiol,2012,33(8):1355-1361. |
[4]
|
Satoda M,ZhaoF,Diaz GA,et al.Mutations in TFAP2B cause Char syndrome,familial form of patent ductus arteriosus[J].Nat Genet,2000,25(1):42-46. |
[5]
|
Karkera JD,Lee JS,Roessler E,et al.Loss-of-function mutations in growth differentiation factor-l(GDF1) are associated with congenital heart defects in humans[J].Am J Hum Genet,2007,81(5):987-994. |
[6]
|
Wang B,Yan J,Mi R,et al.Forkhead box Hl(FOXH1)sequence variants in ventricular septal defect[J].Int J Cardiol,2010,145(1):83-85. |
[7]
|
Salazar M,Consoli F,Villegas V,et al.Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects[J].Eur J Med Genet,2011,54(3):306-309. |
[8]
|
Terada R,Warren S,Lu JT,et al.Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformation[J].Cardiovasc Res,2011,91(2):289-299. |
[9]
|
Sizarov A,Devalla HD,Anderson RH,et al.Molecular analysis of patterning of conduction tissues in the developing human heart[J].Circ Arrhythm Electrophysiol,2011,4(4):532-542. |
[10]
|
陈轶维,赵武,李奋,等.单纯性动脉导管未闭患儿TFAP-2B基因单核苷酸多态性分析[J].上海交通大学学报,2011,31(9):1240-1244. |
[11]
|
Vianna CB,Miura N,Pereira AC,et al.Holt-Oram syndrome:novel TBX5 mutation and associated anomalous right coronary artery[J].Cardiol Young,2011,21(3):351-353. |
[12]
|
Takeuchi JK,Lou X,Alexander JM,et al.Chromatin remodelling complex dosage modulates transcription factor function in heart development[J].Nat Commun,2011,2:187. |
[13]
|
Martin LK,Mezentseva NV,Bratoeva M,et al.Canonical WNT signaling enhances stem cell expression in the developing heartwithout a corresponding inhibition of cardiogenic differentiation[J].Stem Cells Dev,2011,20(11):1973-1983. |
[14]
|
Moskowitz IP,Wang J,Peterson MA,et al.Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development[J].Proc Natl Acad Sci USA,2011,108(10):4006-4011. |
[15]
|
Peng T,Wang L,Zhou SF,et al.Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease[J].Genetica,2010,138(11/12):1231-1240. |
[16]
|
Butler TL,Esposito G,Blue GM,et al.GATA4 mutations in 357 unrelated patients with congenital heart malformation[J].Genet Test Mol Biomarkers,2010,14(6):797-802. |
[17]
|
Maitra M,Schluterman MK,Nichols HA,et al.Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development[J].Dev Biol,2009,326(2):368-377. |
[18]
|
Bodmer R.The gene tinman is required for specification of the heart and visceral muscles in Drosophila[J].Development,1993,118(3):719-729. |
[19]
|
Turbay D,Wechsler SB,Blanchard KM,et al.Molecular cloning,chromosomal mapping,and characterization of the human cardiac-specific homeobox gene hCsx[J].MolMed,1996,2(1):86-96. |
[20]
|
Schott JJ,Benson DW,Basson CT,et al.Congenital heart disease caused by mutations in the transcription factor Nkx 2.5[J].Science,1998,281(5373):108-111. |
[21]
|
Bartlett H,Sutherland L,Kolker S,et al.Transient early embryonic expression of Nkx2.5 mutations linked to congenital heart defects in human causes heart defects in Xenopus laevis[J].Dev Dyn,2007,236(9):2475-2484. |
[22]
|
Kasahara H,Bartunkova S,Schinke M,et al.Cardiac and extracardiac Expression of Csx/Nkx2.5 Homeodomain Protein[J].Circ Res,1998,82(9):936-946. |
[23]
|
Lyons I,Parsons LM,Hartley L,et al.Myogenic and morphogenetic defects in the heart tubes of murlne embryos lacking the homeo box gene Nkx2.5[J].Gene Dev,1995,9(13):1654-1666. |
[24]
|
Akazawa H,Komuro I.Cardiac transcription factor CSx/Nkx2.5:Its role in cardiac development and diseases[J].Pharmacol Ther,2005,107(2):252-268. |
[25]
|
Groot AG,Bartelings M,Deruiter M,et al.Basics of cardiac development for the understanding of congenital heart malformations[J].Pediatr Res,2005,57(2):169-176. |
[26]
|
Meysen S,Marger L,Hewett KW,et al.Nkx2.5 cell-autonomous gene function is required for the postnatal formation of the peripheral ventricular conduction system[J].Dev Biol,2007,303(2):740-753. |
[27]
|
Pashmforoush M,Lu JT,Chen H,et al.Nkx2.5 pathways and congenital heart disease:loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block[J].Cell,2004,117(3):373-386. |
[28]
|
Zou Y,Evans S,Chen J,et al.CARP,a cardiac ankyrin repeat protein,is downstream in the Nkx2.5 homeobox gene pathway[J].Development,1997,124(4):793-804. |
[29]
|
Kiewitz R,Lyons GE,Schafer BW,et al.Transcriptional regulation of S100A1 and expression during mouse heart development[J].Biochim Biophys Acta,2000,1498(2/3):207-219. |
[30]
|
Willingham-Rocky LA,Golding MC,Wright JM,et al.Cloning of GJA1(connexin43) and its expression in canine ovarian follicles throughout the estrous cycle[J].Gene Ex Pr Patterns,2007,7(1/2):66-71. |
[31]
|
Wang J,Zhang H,Iyer D,et al.Regulation of cardiac specific Nkx2.5 gene activity by small ubiquitin-like modifier[J].J Biol Chem,2008,283(34):23235-23243. |
[32]
|
Schott JJ,Benson DW,Basson CT,et al.Congenital heart disease caused by mutations in the transcription factor nkx 2.5[J].Science,1998,281(5373):108-111. |
[33]
|
Benson DW,Silberbach GM,Kavanaugh-McHugh A,et al.Mutations in the cardiac transcription factor nkx2.5 affect diverse cardiac developmental pathways[J].J Clin Invest,1999,104(11):1567-1573. |
[34]
|
Kasahara H,Lee B,Schott JJ,et al.Loss of function and inhibitory effects of human CSX/Nkx2.5 homeoprotein mutations associated with congenital heart disease[J].J Clin Invest,2000,106(2):299-308. |
[35]
|
Goldmuntz E,Geiger E,Benson D.Nkx2.5 mutations in patients with tetralogy of Fallot[J].Circulation,2001,104(21):2565-2568. |
[36]
|
McElhinney D,Geiger E,Blinder J,et al.Nkx2.5 mutations in patients with congenital heart disease[J].J Am Coll Cardiol,2003,42(9):1650-1655. |
[37]
|
Reamon-Buettner SM,Hecker H,Spanel-Borowski K,et al.Novel Nkx2.5 mutations in diseased heart tissues of patients with cardiac malformations[J].Am J Pathol,2004,164(6):2117-2125. |
[38]
|
Prall O,Elliott D,Harvey R.Developmental paradigms in heart disease:insights from tinman[J].Ann Med,2002,34(3):148-156. |
[39]
|
田莉,祝建芳,杨钧国,等.继发孔房间隔缺损一家系CSX/NKX2.5基因突变研究[J].中华医学杂志,2008,88(4):250-253. |
[40]
|
丁建东,方翔,李开如,等.转录因子Nkx2.5和GATA4的相互作用[J].中国组织工程研究,2012,16(11):1933-1936. |
[41]
|
Granados-Riveron JT,Pope M,Bu'lock FA,et al.Combined mutation screening of NKX2.5,GATA4,and TBX5 in congenital heart disease:multiple heterozygosity and novel mutations[J].Congenit Heart Dis,2012,7(2):151-159. |
[42]
|
Wang J,Xin YF,Liu XY,et al.A novel NKX2.5 mutation in familial ventricular septal defect[J].Int J Mol Med,2011,27(3):369-375. |