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

To better understand the genetic basis of heart disease, we identified a variant in the Flightless-I homolog (FLII) gene that generates a R1243H missense change and predisposes to cardiac remodeling across multiple previous human genome-wide association studies (GWAS). Since this gene is of unknown...

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Detalles Bibliográficos
Autores principales: Kuwabara, Yasuhide, York, Allen J., Lin, Suh-Chin, Sargent, Michelle A., Grimes, Kelly M., Pirruccello, James P., Molkentin, Jeffery D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175844/
https://www.ncbi.nlm.nih.gov/pubmed/37126682
http://dx.doi.org/10.1073/pnas.2213696120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175844/
https://www.ncbi.nlm.nih.gov/pubmed/37126682
http://dx.doi.org/10.1073/pnas.2213696120

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