Loss of Cardiac Splicing Regulator

RBM20 alternative splicing atrial cardiomyopathy atrial fibrillation genetics

Journal

JACC. Basic to translational science
ISSN: 2452-302X
Titre abrégé: JACC Basic Transl Sci
Pays: United States
ID NLM: 101677259

Informations de publication

Date de publication:
Feb 2024
Historique:
received: 13 06 2023
revised: 24 08 2023
accepted: 29 08 2023
medline: 21 3 2024
pubmed: 21 3 2024
entrez: 21 3 2024
Statut: epublish

Résumé

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

Identifiants

pubmed: 38510713
doi: 10.1016/j.jacbts.2023.08.008
pii: S2452-302X(23)00401-1
pmc: PMC10950405
doi:

Types de publication

Journal Article

Langues

eng

Pagination

163-180

Informations de copyright

© 2024 The Authors.

Déclaration de conflit d'intérêts

This work was supported by the Novo Nordisk Foundation, John and Birthe Meyer Foundation, Research Foundation of the Heart Centre Rigshospitalet, Villadsen Family Foundation, Arvid Nilsson Foundation, Danish Council for Independent Research, Research Foundation at Rigshospitalet, Skibsreder Per Henriksens R., og hustrus fond, and Department of Clinical Medicine (University of Copenhagen). Dr Ahlberg has received a grant from the Novo Nordisk Foundation, BRIDGE–Translational Excellence Programme. Dr Gotthardt was supported by the Deutsche Forschungsgemeinschaft and the Leducq Foundation. Dr Svendsen has received a fee for participating in the Advisory Board (Medtronic); and speaker fees from Medtronic not related to this work. Dr Gotthardt has a consultancy agreement with River BioMedics; and has received speaker honoraria from Bayer not related to this work. Dr Olesen has received speaker fees from Biosense Webster not related to this work. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Auteurs

Oliver B Vad (OB)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Elisavet Angeli (E)

Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Martin Liss (M)

Neuromuscular and Cardiovascular Cell Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.

Gustav Ahlberg (G)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Laura Andreasen (L)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.

Ingrid E Christophersen (IE)

Department of Medical Research, Bærum Hospital, Vestre Viken Hospital Trust, Gjettum, Norway.
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Camilla C Hansen (CC)

The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.

Sophie Møller (S)

The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.

Ylva Hellsten (Y)

The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.

Stig Haunsoe (S)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.

Arnljot Tveit (A)

Department of Medical Research, Bærum Hospital, Vestre Viken Hospital Trust, Gjettum, Norway.
Institute of Clinical Medicine, Department of Cardiology, University of Oslo, Oslo, Norway.

Jesper H Svendsen (JH)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.

Michael Gotthardt (M)

Neuromuscular and Cardiovascular Cell Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
Department of Cardiology, Charité Universitätsmedizin Berlin, Berlin, Germany.
German Center for Cardiovascular Research, partner site Berlin, Berlin, Germany.

Pia R Lundegaard (PR)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Morten S Olesen (MS)

Department of Cardiology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Classifications MeSH