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
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
163-180Informations 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.