期刊文献+

NKX2-5与先天性心脏病发病关系的研究进展 被引量:3

下载PDF
导出
摘要 NKX2-5是最早被发现与心脏发育及成熟相关的转录因子,其异常的表达将影响胚胎心脏发育,最终可能导致心脏结构畸形和传导功能受损,甚至死亡。本文简要地回顾了NKX2-5的生物学特性及其在心脏发育中的作用,并汇总了近几年来在先天性心脏病(CHD)患者样本中新发现的NKX2-5基因突变,为后继临床研究提供参考。
作者 李金 唐燕华
出处 《中国循环杂志》 CSCD 北大核心 2014年第12期1061-1063,共3页 Chinese Circulation Journal
  • 相关文献

参考文献2

二级参考文献16

  • 1石琳,申阿东,李晓峰,柏松,关晓蕾,李仲智.中国先天性心脏病Nkx2.5基因突变筛查及关联研究[J].首都医科大学学报,2005,26(5):525-528. 被引量:19
  • 2Li Tian,Jianfang Zhu,Junguo Yang,Qihui Zhu,Rong Du,Jing Li,Wei Li.Missense mutations in CSX/NKX_(2.5)are associated with atrial septal defects[J].Journal of Nanjing Medical University,2007,21(4):218-221. 被引量:1
  • 3Schott JJ, Benson DW, Besson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX 2.5. Science, 1998,281 : 108-111.
  • 4Poseh MG, Pcrret A, Schmitt K, et al. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A,2008,46A :251-253.
  • 5Pashmforoush M, Lu JT, Chert H,et al. Nkx2.5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell, 2004,117:373-386.
  • 6Elliott DA, Kirk EP, Thomas Y. Cardiac homeobox gene NKx 2. 5 mutations and congenital heart disease. J Am Coll Cardiol, 2003,41: 2072-2076.
  • 7McElhinney DB,Geiger E,Blinder J,et al. Nkx 2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol, 2003,42: 1650-1655.
  • 8Inga A, Reamon-Buettner SM, Borlak J, et al. Functional dissection of sequence specific NKx 2.5 DNA binding domain mutations associated with human heart septation defects using a yeast based system. Hum Mol Genet,2005,14 (14) : 1965-1975.
  • 9Jay PY, Harris BS, Maguire CT, et al. Nkx-2, 5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest, 2004,113:1130-1137.
  • 10Yu Chen, Zengqiang Han, Chuzhong Tang, et al. A novel mutation in GATA-4 gene associated with dominant inherited familial atrial septal defect. J Thorac Cardiovascr Surg,2010,140(3) : 684-687.

共引文献20

同被引文献32

  • 1丁琰,段君凯,雷华平,周红平,许飞,陈霞,郭晨,黄春瑜.先天性心脏病患者Nkx2.5基因突变研究[J].医学信息(医学与计算机应用),2014,0(18):193-193. 被引量:2
  • 2石琳,申阿东,李晓峰,柏松,关晓蕾,李仲智.中国先天性心脏病Nkx2.5基因突变筛查及关联研究[J].首都医科大学学报,2005,26(5):525-528. 被引量:19
  • 3宫立国,邱广蓉,徐小延,孙开来.心脏特异转录因子NKX2-5、TBX5、GATA4与先天性心脏病的研究进展[J].国际遗传学杂志,2006,29(2):133-136. 被引量:10
  • 4张金平,张雷,王惠娟,王多,赵昱,尹青,赵春芳.外源表达Nkx2-5基因诱导P19细胞向心肌分化[J].解剖学杂志,2007,30(6):725-729. 被引量:7
  • 5van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta- analysis. J Am Coil Cardiol, 2011, 58: 2241-2247.
  • 6He Y, Wang J, Gu X, et al. Application of spatio-temporal image correlation technology in the diagnosis of fetal cardiac abnormalities. Exp Ther Med, 2013, 5: 1637-1642.
  • 7Huang JB, Liu YL, Sun PW, et al. Molecular mechanisms of congenital heart disease. Cardiovasc Pathol, 2010, 19: e183-193.
  • 8Vecoli C, Pulignani S, Foffa I, et al. Congenital heart disease: the crossroads of genetics, epigenetics and environment. Curr Genomics, 2014, 15: 390-399.
  • 9Peng C, Zhu J, Sun HC, et al. Inhibition of Histone H3K9 Acetylation by Anacardic Acid Can Correct the Over-Expression of Gata4 in the Hearts of Fetal Mice Exposed to Alcohol during Pregnancy. PLoS ONE, 2014, 9: e104135.
  • 10Qin x, Xing Q, Ma L, et al. Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects. Gene, 2012, 508: 106- 109.

引证文献3

二级引证文献6

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部