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《International Journal of Genetics》 2007-06
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Advance of NKX2.5 Gene Mutation in Pathogenesis of Congenital Heart Disease

PENG Ting~1 LI Xiao- tian~1 ZUO Ji~2.(1 The Obstetrics and Gynecology Hospital Medical Center,Fndan University,Shanghai 200011;2.Department of ceUular and genetic medicine,Fudan University,Shanghai 200032,China)  
The homeodomain(HD)protein NKX2.5,one of the key transcription factors required for the differentiation of mesodermal progenitor cells.It is a conserved transcription factor required for the organogenesis of the heart.Twenty-nine different heterozygous germline NKX2.5 mutations have been identified in patients suffering from different congenital heart diseases(CHD),which leads to either inactivation or reduction the combination of NKX2.5 protein and DNA.Recently somatic NKX2.5 mutations as a novel mechanism of complex congenital heart disease are reported.The additive effect of sereral and somatic mutations may cause CHD.
【Fund】: 卫生部临床学科项目(卫规财发[2004]468);; 上海市重点学科(妇产科学)学科建设项目(05-Ⅲ016)
【CateGory Index】: R541.1
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