Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

Pan, Stephen; Sommese, Ruth F; Sallam, Karim I; Nag, Suman; Sutton, Shirley; Miller, Susan M; Spudich, James A; Ruppel, Kathleen M; Ashley, Euan A

Pan, Stephen; Sommese, Ruth F; Sallam, Karim I; Nag, Suman; Sutton, Shirley; Miller, Susan M; Spudich, James A; Ruppel, Kathleen M; Ashley, Euan A.

Afiliación

Pan S; Leon H. Charney Division of Cardiology, NYU Langone Medical Center, New York, NY, USA. Stephen.Pan@nyumc.org.
Sommese RF; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA. rsommese@umn.edu.
Sallam KI; Departments of Medicine (Cardiovascular Medicine), Stanford University School of Medicine, Stanford, CA, USA. sallam@stanford.edu.
Nag S; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA. sumannag@stanford.edu.
Sutton S; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA. scsutton@stanford.edu.
Miller SM; Department of Pharmaceutical Chemistry, University of California San Francisco, San Francisco, CA, USA. Susan.MillerPhD@ucsf.edu.
Spudich JA; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA. jspudich@stanford.edu.
Ruppel KM; Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA. kruppel@stanford.edu.
Ashley EA; Department of Pediatrics (Cardiology), Stanford University School of Medicine, Stanford, CA, USA. kruppel@stanford.edu.

BMC Med Genet ; 16: 97, 2015 Oct 26.

Article en En | MEDLINE | ID: mdl-26498512

Asunto(s)

Calcio/metabolismo; Cardiomiopatía Dilatada/genética; Cardiomiopatía Dilatada/fisiopatología; Mutación; Troponina T/genética; Troponina T/metabolismo; Adulto; Miosinas Cardíacas/genética; Miosinas Cardíacas/metabolismo; Niño; Preescolar; Femenino; Predisposición Genética a la Enfermedad; Humanos; Técnicas In Vitro; Masculino; Cadenas Pesadas de Miosina/genética; Cadenas Pesadas de Miosina/metabolismo; Proteínas Recombinantes/genética; Proteínas Recombinantes/metabolismo; Volumen Sistólico

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Calcio / Troponina T / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos

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