Beyond the one gene–one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders
Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …
often associated with increased risk of sudden death in the young. Early linkage analysis …
Human induced pluripotent stem-cell-derived cardiomyocytes as models for genetic cardiomyopathies
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
Maturation of iPSC-derived cardiomyocytes in a heart-on-a-chip device enables modeling of dilated cardiomyopathy caused by R222Q-SCN5A mutation
M Wauchop, N Rafatian, Y Zhao, W Chen, M Gagliardi… - Biomaterials, 2023 - Elsevier
To better understand sodium channel (SCN5A)-related cardiomyopathies, we generated
ventricular cardiomyocytes from induced pluripotent stem cells obtained from a dilated …
ventricular cardiomyocytes from induced pluripotent stem cells obtained from a dilated …
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review
Background: Variants in the SCN5A gene, that encodes the cardiac sodium channel, Nav1.
5, are associated with a highly arrhythmogenic form of dilated cardiomyopathy (DCM). Our …
5, are associated with a highly arrhythmogenic form of dilated cardiomyopathy (DCM). Our …
Biophysical properties of NaV1.5 channels from atrial-like and ventricular-like cardiomyocytes derived from human induced pluripotent stem cells
Generating atrial-like cardiomyocytes derived from human induced pluripotent stem cells
(hiPSCs) is crucial for modeling and treating atrial-related diseases, such as atrial …
(hiPSCs) is crucial for modeling and treating atrial-related diseases, such as atrial …
Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease
F Sedaghat-Hamedani, S Rebs, I El-Battrawy… - International Journal of …, 2021 - mdpi.com
Introduction: Familial dilated cardiomyopathy (DCM) is clinically variable and has been
associated with mutations in more than 50 genes. Rapid improvements in DNA sequencing …
associated with mutations in more than 50 genes. Rapid improvements in DNA sequencing …
The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels
Voltage-gated sodium (Nav) channels are pivotal for cellular signaling, and mutations in Nav
channels can lead to excitability disorders in cardiac, muscular, and neural tissues. A major …
channels can lead to excitability disorders in cardiac, muscular, and neural tissues. A major …
Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells
Cardiomyocytes derived from human induced pluripotent stem cells (iPSCs) provide a
unique opportunity to understand the pathophysiological effects of genetic cardiomyopathy …
unique opportunity to understand the pathophysiological effects of genetic cardiomyopathy …
NaV1.5 knockout in iPSCs: a novel approach to study NaV1.5 variants in a human cardiomyocyte environment
Cardiomyocytes derived from patient-specific induced pluripotent stem cells (iPSC-CMs)
successfully reproduce the mechanisms of several channelopathies. However, this …
successfully reproduce the mechanisms of several channelopathies. However, this …
The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction …
Abstract Aims Variants in SCN5A encoding Nav1. 5 are associated with cardiac arrhythmias.
We aimed to determine the mechanism by which c. 638G> A in SCNA5 resulting in p …
We aimed to determine the mechanism by which c. 638G> A in SCNA5 resulting in p …