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Gender- and age-related differences in distinct phenotypes of hypertrophic cardiomyopathy-associated mutation MYBPC3–E334K

  • Published:2021-04-08 Issue:10 Volume:36 Page:1525-1535
  • ISSN:0910-8327
  • Container-title:Heart and Vessels
  • language:en
  • Short-container-title:Heart Vessels

Author:

Yang Qian-Li,Zuo Lei,Ma Zhi-Ling,Lei Chang-Hui,Zhu Xiao-Li,Wang Xuan-Ying,Wang Bo,Zhao Xue-Li,Zhang Juan,Wang Yue,Zhang Yan-Min,Liu Li-Wen

Funder

National Natural Science Foundation of China

Shaanxi Provincial Key Project

Key R & D Project of Shaanxi Province

Discipline Promotion Project of Xijing Hospital

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine

Reference20 articles.

1. Cooper RM, Raphael CE, Liebregts M, Anavekar NS, Veselka J (2017) New developments in hypertrophic cardiomyopathy. Can J Cardiol 33(10):1254–1265

2. Mun JY, Kensler RW, Harris SP, Craig R (2016) The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position. J Mol Cell Cardiol 91:141–147

3. Bahrudin U, Morisaki H, Morisaki T, Ninomiya H, Higaki K, Nanba E, Igawa O, Takashima S, Mizuta E, Miake J, Yamamoto Y, Shirayoshi Y, Kitakaze M, Carrier L, Hisatome I (2008) Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. J Mol Biol 384(4):896–907

4. Bahrudin U, Morikawa K, Takeuchi A, Kurata Y, Miake J, Mizuta E, Adachi K, Higaki K, Yamamoto Y, Shirayoshi Y, Yoshida A, Kato M, Yamamoto K, Nanba E, Morisaki H, Morisaki T, Matsuoka S, Ninomiya H, Hisatome I (2011) Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol 413(4):857–878

5. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H (2014) 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 35(39):2733–2779

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