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@article{1414061ae7db4aefa673f63a77f47bb7,
title = "RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling",
abstract = "BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism.",
author = "{van den Hoogenhof}, {Maarten M. G.} and Abdelaziz Beqqali and Amin, {Ahmad S.} and {van der Made}, Ingeborg and Simona Aufiero and Khan, {Mohsin A. F.} and Schumacher, {Cees A.} and Jansweijer, {Joeri A.} and {van Spaendonck-Zwarts}, {Karin Y.} and Remme, {Carol Ann} and Johannes Backs and Verkerk, {Arie O.} and Antonius Baartscheer and Pinto, {Yigal M.} and Creemers, {Esther E.}",
year = "2018",
doi = "10.1161/CIRCULATIONAHA.117.031947",
language = "English",
volume = "138",
pages = "1330--1342",
journal = "Circulation",
issn = "0009-7322",
publisher = "Lippincott Williams and Wilkins",
number = "13",

}

RIS

TY - JOUR

T1 - RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

AU - van den Hoogenhof, Maarten M. G.

AU - Beqqali, Abdelaziz

AU - Amin, Ahmad S.

AU - van der Made, Ingeborg

AU - Aufiero, Simona

AU - Khan, Mohsin A. F.

AU - Schumacher, Cees A.

AU - Jansweijer, Joeri A.

AU - van Spaendonck-Zwarts, Karin Y.

AU - Remme, Carol Ann

AU - Backs, Johannes

AU - Verkerk, Arie O.

AU - Baartscheer, Antonius

AU - Pinto, Yigal M.

AU - Creemers, Esther E.

PY - 2018

Y1 - 2018

N2 - BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism.

AB - BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced dilated cardiomyopathy, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent to which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85048633478&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/29650543

U2 - 10.1161/CIRCULATIONAHA.117.031947

DO - 10.1161/CIRCULATIONAHA.117.031947

M3 - Article

VL - 138

SP - 1330

EP - 1342

JO - Circulation

JF - Circulation

SN - 0009-7322

IS - 13

ER -

ID: 5528738