A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.

Kuwabara, Yasuhide; York, Allen J; Lin, Suh-Chin; Sargent, Michelle A; Grimes, Kelly M; Pirruccello, James P; Molkentin, Jeffery D

Kuwabara, Yasuhide; York, Allen J; Lin, Suh-Chin; Sargent, Michelle A; Grimes, Kelly M; Pirruccello, James P; Molkentin, Jeffery D.

Kuwabara Y; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
York AJ; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
Lin SC; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
Sargent MA; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
Grimes KM; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
Pirruccello JP; Division of Cardiology, University of California San Francisco, San Francisco, CA 94158.
Molkentin JD; Department of Pediatrics, Cincinnati Children's Hospital and the University of Cincinnati, Cincinnati, OH 45229.

Proc Natl Acad Sci U S A ; 120(19): e2213696120, 2023 05 09.

Article en En | MEDLINE | ID: mdl-37126682

Asunto(s)

Actinas; Cardiomiopatías; Humanos; Animales; Ratones; Actinas/metabolismo; Sarcómeros/metabolismo; Estudio de Asociación del Genoma Completo; Citoesqueleto de Actina/metabolismo; Cardiomiopatías/metabolismo; Mamíferos/genética; Proteínas de Microfilamentos/metabolismo; Transactivadores/metabolismo; Tropomodulina/metabolismo; Proteínas del Citoesqueleto/metabolismo; Proteínas Musculares/metabolismo

Palabras clave

actin thin filament; cardiomyopathy; heart; sarcomere

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Actinas / Cardiomiopatías Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article

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