Alternative splicing as a regulator of development and tissue identity

FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …

The giant protein titin's role in cardiomyopathy: genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease

CA Tharp, ME Haywood, O Sbaizero… - Frontiers in …, 2019 - frontiersin.org
Dilated cardiomyopathy (DCM) is a leading cause of heart failure, sudden cardiac death and
heart transplant. DCM is inherited in approximately 50% of cases, in which the most frequent …

Evidence-based assessment of genes in dilated cardiomyopathy

E Jordan, L Peterson, T Ai, B Asatryan, L Bronicki… - Circulation, 2021 - Am Heart Assoc
Background: Each of the cardiomyopathies, classically categorized as hypertrophic
cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular …

Atlas of the clinical genetics of human dilated cardiomyopathy

J Haas, KS Frese, B Peil, W Kloos, A Keller… - European heart …, 2015 - academic.oup.com
Aim Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until
now technological limitations have hindered elucidation of the contribution of all clinically …

RBM20 mutations induce an arrhythmogenic dilated cardiomyopathy related to disturbed calcium handling

MMG van den Hoogenhof, A Beqqali, AS Amin… - Circulation, 2018 - Am Heart Assoc
Background: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically
aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular …

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

LR Lopes, A Zekavati, P Syrris, M Hubank… - Journal of medical …, 2013 - jmg.bmj.com
Background Clinical interpretation of the large number of rare variants identified by high
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …

Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs

JW Schneider, S Oommen, MY Qureshi, SC Goetsch… - Nature medicine, 2020 - nature.com
Ribonucleoprotein (RNP) granules are biomolecular condensates—liquid–liquid phase-
separated droplets that organize and manage messenger RNA metabolism, cell signaling …

Genetics and genomics of dilated cardiomyopathy and systolic heart failure

U Tayal, S Prasad, SA Cook - Genome medicine, 2017 - Springer
Heart failure is a major health burden, affecting 40 million people globally. One of the main
causes of systolic heart failure is dilated cardiomyopathy (DCM), the leading global …

QKI is a critical pre-mRNA alternative splicing regulator of cardiac myofibrillogenesis and contractile function

X Chen, Y Liu, C Xu, L Ba, Z Liu, X Li, J Huang… - Nature …, 2021 - nature.com
The RNA-binding protein QKI belongs to the hnRNP K-homology domain protein family, a
well-known regulator of pre-mRNA alternative splicing and is associated with several …

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

PM Elliott, A Anastasakis, A Asimaki… - European journal of …, 2019 - Wiley Online Library
It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy
(ARVC) and more than 20 years since the first reports establishing desmosomal gene …