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Loss of Cardiac Splicing Regulator RBM20 Is Associated With Early-Onset Atrial Fibrillation

We showed an association between atrial fibrillation and rare loss-of-function (LOF) variants in the cardiac splicing regulator RBM20 in 2 independent cohorts. In a rat model with loss of RBM20, we demonstrated altered splicing of sarcomere genes (NEXN, TTN, TPM1, MYOM1, and LDB3), and differential...

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Principais autores: Oliver B. Vad, MD, Elisavet Angeli, MSc, Martin Liss, PhD, Gustav Ahlberg, PhD, Laura Andreasen, MD, PhD, Ingrid E. Christophersen, MD, PhD, Camilla C. Hansen, PhD, Sophie Møller, PhD, Ylva Hellsten, PhD, Stig Haunsoe, MD, DMSc, Arnljot Tveit, MD, PhD, Jesper H. Svendsen, MD, Michael Gotthardt, MD, PhD, Pia R. Lundegaard, PhD, Morten S. Olesen, PhD
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2024-02-01
coleção:JACC: Basic to Translational Science
Assuntos:
alternative splicing
atrial cardiomyopathy
atrial fibrillation
genetics
RBM20
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2452302X23004011
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