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MeSH Review

Cardiomyopathy, Hypertrophic, Familial

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Disease relevance of Cardiomyopathy, Hypertrophic, Familial


High impact information on Cardiomyopathy, Hypertrophic, Familial


Biological context of Cardiomyopathy, Hypertrophic, Familial


Anatomical context of Cardiomyopathy, Hypertrophic, Familial


Gene context of Cardiomyopathy, Hypertrophic, Familial


  1. A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice. Prabhakar, R., Boivin, G.P., Grupp, I.L., Hoit, B., Arteaga, G., Solaro, J.R., Wieczorek, D.F. J. Mol. Cell. Cardiol. (2001) [Pubmed]
  2. Cardiac myosin heavy chains lacking the light chain binding domain cause hypertrophic cardiomyopathy in mice. Welikson, R.E., Buck, S.H., Patel, J.R., Moss, R.L., Vikstrom, K.L., Factor, S.M., Miyata, S., Weinberger, H.D., Leinwand, L.A. Am. J. Physiol. (1999) [Pubmed]
  3. Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice. Okazaki, T., Tanaka, Y., Nishio, R., Mitsuiye, T., Mizoguchi, A., Wang, J., Ishida, M., Hiai, H., Matsumori, A., Minato, N., Honjo, T. Nat. Med. (2003) [Pubmed]
  4. A mouse model of familial hypertrophic cardiomyopathy. Geisterfer-Lowrance, A.A., Christe, M., Conner, D.A., Ingwall, J.S., Schoen, F.J., Seidman, C.E., Seidman, J.G. Science (1996) [Pubmed]
  5. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Mogensen, J., Klausen, I.C., Pedersen, A.K., Egeblad, H., Bross, P., Kruse, T.A., Gregersen, N., Hansen, P.S., Baandrup, U., Borglum, A.D. J. Clin. Invest. (1999) [Pubmed]
  6. Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. Tardiff, J.C., Hewett, T.E., Palmer, B.M., Olsson, C., Factor, S.M., Moore, R.L., Robbins, J., Leinwand, L.A. J. Clin. Invest. (1999) [Pubmed]
  7. Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Morimoto, S., Lu, Q.W., Harada, K., Takahashi-Yanaga, F., Minakami, R., Ohta, M., Sasaguri, T., Ohtsuki, I. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  8. Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Carrier, L., Bonne, G., Bährend, E., Yu, B., Richard, P., Niel, F., Hainque, B., Cruaud, C., Gary, F., Labeit, S., Bouhour, J.B., Dubourg, O., Desnos, M., Hagège, A.A., Trent, R.J., Komajda, M., Fiszman, M., Schwartz, K. Circ. Res. (1997) [Pubmed]
  9. Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. Palmer, B.M., Fishbaugher, D.E., Schmitt, J.P., Wang, Y., Alpert, N.R., Seidman, C.E., Seidman, J.G., VanBuren, P., Maughan, D.W. Am. J. Physiol. Heart Circ. Physiol. (2004) [Pubmed]
  10. Hypertrophy, fibrosis, and sudden cardiac death in response to pathological stimuli in mice with mutations in cardiac troponin T. Maass, A.H., Ikeda, K., Oberdorf-Maass, S., Maier, S.K., Leinwand, L.A. Circulation (2004) [Pubmed]
  11. Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. Szczesna, D., Zhang, R., Zhao, J., Jones, M., Guzman, G., Potter, J.D. J. Biol. Chem. (2000) [Pubmed]
  12. Altered signaling surrounding the C-lobe of cardiac troponin C in myofilaments containing an alpha-tropomyosin mutation linked to familial hypertrophic cardiomyopathy. Burkart, E.M., Arteaga, G.M., Sumandea, M.P., Prabhakar, R., Wieczorek, D.F., Solaro, R.J. J. Mol. Cell. Cardiol. (2003) [Pubmed]
  13. Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. Muthuchamy, M., Pieples, K., Rethinasamy, P., Hoit, B., Grupp, I.L., Boivin, G.P., Wolska, B., Evans, C., Solaro, R.J., Wieczorek, D.F. Circ. Res. (1999) [Pubmed]
  14. A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. Havndrup, O., Bundgaard, H., Andersen, P.S., Larsen, L.A., Vuust, J., Kjeldsen, K., Christiansen, M. Scand. Cardiovasc. J. (2000) [Pubmed]
  15. A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila. Naimi, B., Harrison, A., Cummins, M., Nongthomba, U., Clark, S., Canal, I., Ferrus, A., Sparrow, J.C. Mol. Biol. Cell (2001) [Pubmed]
  16. Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C. Witt, C.C., Gerull, B., Davies, M.J., Centner, T., Linke, W.A., Thierfelder, L. J. Biol. Chem. (2001) [Pubmed]
  17. The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. Szczesna-Cordary, D., Guzman, G., Zhao, J., Hernandez, O., Wei, J., Diaz-Perez, Z. J. Cell. Sci. (2005) [Pubmed]
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