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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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2024-02-01
Edice:	JACC: Basic to Translational Science
Témata:	alternative splicing atrial cardiomyopathy atrial fibrillation genetics RBM20
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2452302X23004011
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