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De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Hassoun, Roua; Budde, Heidi; Mannherz, Hans Georg; Lódi, Mária; Fujita-Becker, Setsuko; Laser, Kai Thorsten; Gärtner, Anna; Klingel, Karin; Möhner, Desirée; Stehle, Robert; Sultana, Innas; Schaaf, Thomas; Majchrzak, Mario; Krause, Verena; Herrmann, Christian; Nowaczyk, Marc M; Mügge, Andreas; Pfitzer, Gabriele; Schröder, Rasmus R; Hamdani, Nazha; Milting, Hendrik; Jaquet, Kornelia; Cimiotti, Diana.
Afiliación
  • Hassoun R; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Budde H; Department of Cardiology, St. Josef-Hospital and Bergmannsheil, University Clinic of the Ruhr University Bochum, 44801 Bochum, Germany.
  • Mannherz HG; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Lódi M; Department of Cardiology, St. Josef-Hospital and Bergmannsheil, University Clinic of the Ruhr University Bochum, 44801 Bochum, Germany.
  • Fujita-Becker S; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Laser KT; Department of Anatomy and Molecular Embryology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Gärtner A; Department of Neuroanatomy and Molecular Brain Research, Medical Faculty, Ruhr University Bochum, 44801 Bochum, Germany.
  • Klingel K; Cryoelectron Microscopy, Bioquant, Medical Faculty, University of Heidelberg, 69120 Heidelberg, Germany.
  • Möhner D; Centre for Congenital Heart Disease/Pediatric Cardiology, Heart and Diabetes Centre NRW, University Clinic of the Ruhr University Bochum, 32545 Bad Oeynhausen, Germany.
  • Stehle R; Heart and Diabetes Centre NRW, Erich and Hanna Klessmann Institute, University Hospital of the Ruhr University Bochum, 32545 Bad Oeynhausen, Germany.
  • Sultana I; Institute for Pathology and Neuropathology, University Hospital Tuebingen, 72076 Tuebingen, Germany.
  • Schaaf T; Institute of Vegetative Physiology, University of Cologne, 50931 Cologne, Germany.
  • Majchrzak M; Institute of Vegetative Physiology, University of Cologne, 50931 Cologne, Germany.
  • Krause V; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Herrmann C; Department of Cardiology, St. Josef-Hospital and Bergmannsheil, University Clinic of the Ruhr University Bochum, 44801 Bochum, Germany.
  • Nowaczyk MM; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Mügge A; Department of Cardiology, St. Josef-Hospital and Bergmannsheil, University Clinic of the Ruhr University Bochum, 44801 Bochum, Germany.
  • Pfitzer G; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Schröder RR; Department of Cardiology, St. Josef-Hospital and Bergmannsheil, University Clinic of the Ruhr University Bochum, 44801 Bochum, Germany.
  • Hamdani N; Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, Ruhr University Bochum, 44801 Bochum, Germany.
  • Milting H; Department of Cardiology, St. Josef-Hospital and Bergmannsheil, University Clinic of the Ruhr University Bochum, 44801 Bochum, Germany.
  • Jaquet K; Department of Physical Chemistry I, Ruhr University Bochum, 44801 Bochum, Germany.
  • Cimiotti D; Plant Biochemistry, Faculty of Biology and Biotechnology, Ruhr University Bochum, 44801 Bochum, Germany.
Int J Mol Sci ; 22(17)2021 Sep 06.
Article en En | MEDLINE | ID: mdl-34502534
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Troponina I / Mutación Missense / Cardiomiopatías / Miofibrillas Límite: Adult / Humans / Infant / Male Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Troponina I / Mutación Missense / Cardiomiopatías / Miofibrillas Límite: Adult / Humans / Infant / Male Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza