Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy.

Parbhudayal, R Y; Garra, A R; Götte, M J W; Michels, M; Pei, J; Harakalova, M; Asselbergs, F W; van Rossum, A C; van der Velden, J; Kuster, D W D

Parbhudayal, R Y; Garra, A R; Götte, M J W; Michels, M; Pei, J; Harakalova, M; Asselbergs, F W; van Rossum, A C; van der Velden, J; Kuster, D W D.

Afiliación

Parbhudayal RY; Department of Physiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands; Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands; The Netherlands Heart Institute, Utrecht, the Netherla
Garra AR; Department of Physiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands.
Götte MJW; Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands.
Michels M; Department of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Pei J; Department of Nephrology and Hypertension, DIGD, UMC Utrecht, University of Utrecht, the Netherlands; Department of Cardiology, Division Heart & Lungs, UMC Utrecht, University of Utrecht, the Netherlands.
Harakalova M; Department of Cardiology, Division Heart & Lungs, UMC Utrecht, University of Utrecht, the Netherlands.
Asselbergs FW; Department of Cardiology, Division Heart & Lungs, UMC Utrecht, University of Utrecht, the Netherlands; Durrer Center for Cardiovascular Research, Netherlands Heart Institute, Utrecht, the Netherlands; Institute of Cardiovascular Science, University College London, London, United Kingdom; Farr In
van Rossum AC; Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands; The Netherlands Heart Institute, Utrecht, the Netherlands.
van der Velden J; Department of Physiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands; The Netherlands Heart Institute, Utrecht, the Netherlands.
Kuster DWD; Department of Physiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands. Electronic address: d.kuster@vumc.nl.

J Mol Cell Cardiol ; 123: 59-63, 2018 10.

Article en En | MEDLINE | ID: mdl-30170119

Asunto(s)

Cardiomiopatía Hipertrófica/genética; Proteínas Portadoras/genética; Regulación de la Expresión Génica; Mutación; Miofibrillas/genética; Anciano; Alelos; Cardiomiopatía Hipertrófica/diagnóstico; Cardiomiopatía Hipertrófica/metabolismo; Proteínas Portadoras/metabolismo; Femenino; Técnica del Anticuerpo Fluorescente; Estudios de Asociación Genética; Predisposición Genética a la Enfermedad; Variación Genética; Heterocigoto; Humanos; Masculino; Persona de Mediana Edad; Miocitos Cardíacos/metabolismo; Miofibrillas/metabolismo; Fenotipo; ARN Mensajero/genética; ARN Mensajero/metabolismo

Palabras clave

MYBPC3 mutation; cardiac myosin binding protein-C; hypertrophic cardiomyopathy; variable expression; α-actin

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Proteínas Portadoras / Regulación de la Expresión Génica / Mutación / Miofibrillas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Mol Cell Cardiol Año: 2018 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google