The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype

S Crasto, I My, E Di Pasquale - Frontiers in Physiology, 2020 - frontiersin.org
Mutations of Lamin A/C gene (LMNA) cause laminopathies, a group of disorders associated
with a wide spectrum of clinically distinct phenotypes, affecting different tissues and organs …

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

T Nishiyama, Y Zhang, M Cui, H Li… - Science translational …, 2022 - science.org
Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated
cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS …

New insights in RBM20 cardiomyopathy

D Lennermann, J Backs… - Current heart failure …, 2020 - Springer
Abstract Purpose of Review This review aims to give an update on recent findings related to
the cardiac splicing factor RNA-binding motif protein 20 (RBM20) and RBM20 …

Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3

J Kornienko, M Rodríguez-Martínez, K Fenzl… - Nature …, 2023 - nature.com
Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the
alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich …

RBM20-related cardiomyopathy: current understanding and future options

J Koelemen, M Gotthardt, LM Steinmetz… - Journal of Clinical …, 2021 - mdpi.com
Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell
types and organ systems. Recent evidence suggests a contribution of splice-regulatory …

Genetics of dilated cardiomyopathy

SN Chen, L Mestroni, MRG Taylor - Current opinion in cardiology, 2021 - journals.lww.com
The identification of the molecular causes and subsequent insight into the molecular
mechanisms of DCM is expanding our understanding of DCM pathogenesis and highlights …

Alternative splicing regulator RBM20 and cardiomyopathy

T Watanabe, A Kimura, H Kuroyanagi - Frontiers in molecular …, 2018 - frontiersin.org
RBM20 is a vertebrate-specific RNA-binding protein with two zinc finger (ZnF) domains, one
RNA-recognition motif (RRM)-type RNA-binding domain and an arginine/serine (RS)-rich …

The emerging role of the RBM20 and PTBP1 ribonucleoproteins in heart development and cardiovascular diseases

S Fochi, P Lorenzi, M Galasso, C Stefani, E Trabetti… - Genes, 2020 - mdpi.com
Alternative splicing is a regulatory mechanism essential for cell differentiation and tissue
organization. More than 90% of human genes are regulated by alternative splicing events …

Clinical features of LMNA-related cardiomyopathy in 18 patients and characterization of two novel variants

V Ferradini, J Cosma, F Romeo, C De Masi… - Journal of Clinical …, 2021 - mdpi.com
Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders
characterized by ventricular dilation and depressed myocardial performance in the absence …

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

M Malakootian, M Bagheri Moghaddam… - BMC Medical …, 2022 - Springer
Introduction Dilated cardiomyopathy (DCM) is characterized by the dilation and impaired
contraction of 1 or both ventricles and can be caused by a variety of disorders. Up to 50% of …