期刊文献+

家族性肥厚型心肌病的分子遗传学研究进展 被引量:3

下载PDF
导出
摘要 家族性肥厚型心肌病(FHC)是一种常染色体显性遗传病。编码肌小节结构蛋白的基因突变是家族性肥厚型心肌病的根本病因。FHC表型变异性较大,不仅与不同的致病基因有关,而且与不同的遗传背景、修饰基因、环境因素有关。FHC的发病机制尚不明确。
出处 《中国分子心脏病学杂志》 CAS 2001年第1期11-18,共8页 Molecular Cardiology of China
  • 相关文献

参考文献69

  • 1[1]Maron BJ,Gardin JM,Flack JM,et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation. 1995; 92:785-789
  • 2[2]Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001; 104(4):557-67
  • 3[3]Bonne , Carrier L, Richard P. Familial Hypertrophic Cardiomyopathy: From Mutations to Functional Defects. Cir Res. 1998; 83:580-593.
  • 4[4]Marian A J, Roberts R. The Molecular Genetic Basis for Hypertrophic Cardiomyopathy. J Mol Cell Cardio 2001; 33:655-670
  • 5[5]Matsuoka R, Yoshida MC, Kanda N, et al. Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2-q13. Am J Med Genet. 1989; 32:279-284
  • 6[6]Liew CC, Sole M J, Yamauchi TK, et al.Completesequence and organization of the human cardiac b-myosin heavy chain gene. Nucleic Acids Res. 1990;18:3647-3651
  • 7[7]Fougerousse F, Dufour C, Roudaut C, et al.Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain. Hum Mol Genet. 1992;1:64-69
  • 8[8]Sata M, Stafford WF, Mabuchi K, et al. The motor domain and the regulatory domain of myosin solely dictate enzymatic activity and phosphorylation-dependent regulation respectively. Proc Natl Acad Sci USA.1997; 94:91-96
  • 9[9]Seidman CE, Seidman JG. Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol 1998; 93 (Suppl) 3:13-16
  • 10[10]Rayment I, Holden HM, Sellers JR, et al. Structural interpretation of the mutations in the b-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci USA. 1995;92:3864-3868

同被引文献16

引证文献3

二级引证文献7

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