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188 related items for PubMed ID: 38648963

  • 1. MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy.
    Steczina S, Mohran S, Bailey LRJ, McMillen TS, Kooiker KB, Wood NB, Davis J, Previs MJ, Olivotto I, Pioner JM, Geeves MA, Poggesi C, Regnier M.
    J Mol Cell Cardiol; 2024 Jun; 191():27-39. PubMed ID: 38648963
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  • 4. Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes.
    Monteiro da Rocha A, Guerrero-Serna G, Helms A, Luzod C, Mironov S, Russell M, Jalife J, Day SM, Smith GD, Herron TJ.
    J Mol Cell Cardiol; 2016 Oct; 99():197-206. PubMed ID: 27620334
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  • 10. Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy.
    Parbhudayal RY, Garra AR, Götte MJW, Michels M, Pei J, Harakalova M, Asselbergs FW, van Rossum AC, van der Velden J, Kuster DWD.
    J Mol Cell Cardiol; 2018 Oct; 123():59-63. PubMed ID: 30170119
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  • 12. Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction.
    Kinnear C, Said A, Meng G, Zhao Y, Wang EY, Rafatian N, Parmar N, Wei W, Billia F, Simmons CA, Radisic M, Ellis J, Mital S.
    Cell Rep Med; 2024 May 21; 5(5):101520. PubMed ID: 38642550
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  • 13. Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue.
    Wijnker PJ, Friedrich FW, Dutsch A, Reischmann S, Eder A, Mannhardt I, Mearini G, Eschenhagen T, van der Velden J, Carrier L.
    J Mol Cell Cardiol; 2016 Aug 21; 97():82-92. PubMed ID: 27108529
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  • 15. Metabolic remodeling and calcium handling abnormality in induced pluripotent stem cell-derived cardiomyocytes in dilated phase of hypertrophic cardiomyopathy with MYBPC3 frameshift mutation.
    Mori H, Xu D, Shimoda Y, Yuan Z, Murakata Y, Xi B, Sato K, Yamamoto M, Tajiri K, Ishizu T, Ieda M, Murakoshi N.
    Sci Rep; 2024 Jul 04; 14(1):15422. PubMed ID: 38965264
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  • 18. Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.
    Toepfer CN, Wakimoto H, Garfinkel AC, McDonough B, Liao D, Jiang J, Tai AC, Gorham JM, Lunde IG, Lun M, Lynch TL, McNamara JW, Sadayappan S, Redwood CS, Watkins HC, Seidman JG, Seidman CE.
    Sci Transl Med; 2019 Jan 23; 11(476):. PubMed ID: 30674652
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