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Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization

Progressive loss of cardiac systolic function in arrhythmogenic cardiomyopathy (ACM) has recently gained attention as an important clinical consideration in managing the disease. However, the mechanisms leading to reduction in cardiac contractility are poorly defined. Here, we use CRISPR gene editin...

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Detalles Bibliográficos
Autores principales: Zhang, Kehan, Cloonan, Paige E., Sundaram, Subramanian, Liu, Feng, Das, Shoshana L., Ewoldt, Jourdan K., Bays, Jennifer L., Tomp, Samuel, Toepfer, Christopher N., Marsiglia, Júlia D. C., Gorham, Joshua, Reichart, Daniel, Eyckmans, Jeroen, Seidman, Jonathan G., Seidman, Christine E., Chen, Christopher S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519574/
https://www.ncbi.nlm.nih.gov/pubmed/34652945
http://dx.doi.org/10.1126/sciadv.abh3995