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Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HW, Tesi C, Stienen GJ, Heymans S, Michels M, Poggesi C, van der Velden J. Witjas-Paalberends ER, et al. Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13. Cardiovasc Res. 2013. PMID: 23674513
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
Lan F, Lee AS, Liang P, Sanchez-Freire V, Nguyen PK, Wang L, Han L, Yen M, Wang Y, Sun N, Abilez OJ, Hu S, Ebert AD, Navarrete EG, Simmons CS, Wheeler M, Pruitt B, Lewis R, Yamaguchi Y, Ashley EA, Bers DM, Robbins RC, Longaker MT, Wu JC. Lan F, et al. Cell Stem Cell. 2013 Jan 3;12(1):101-13. doi: 10.1016/j.stem.2012.10.010. Cell Stem Cell. 2013. PMID: 23290139 Free PMC article.
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project. Richard P, et al. Circulation. 2003 May 6;107(17):2227-32. doi: 10.1161/01.CIR.0000066323.15244.54. Epub 2003 Apr 21. Circulation. 2003. PMID: 12707239
16 results