A5064208557- Circular RNAs in diseases
- RNA Research and Splicing
- MicroRNA in disease regulation
- RNA and protein synthesis mechanisms
- Cancer-related molecular mechanisms research
- Cardiac electrophysiology and arrhythmias
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Neurobiology and Insect Physiology Research
- Viral Infections and Immunology Research
- Immunotherapy and Immune Responses
- Light effects on plants
- Retinal Development and Disorders
- Circadian rhythm and melatonin
- Cardiac Valve Diseases and Treatments
- Cardiovascular Effects of Exercise
- Genomics and Rare Diseases
- CAR-T cell therapy research
- ECG Monitoring and Analysis
- Genetics, Aging, and Longevity in Model Organisms
- Mechanical stress and fatigue analysis
- Cardiovascular Function and Risk Factors
- Cardiac Arrhythmias and Treatments
- Plant Molecular Biology Research
- Monoclonal and Polyclonal Antibodies Research
Amsterdam University Medical Centers
2019-2023
University of Amsterdam
2019-2023
Amsterdam Neuroscience
2021
Amsterdam UMC Location University of Amsterdam
2016-2020
University of Padua
2014-2018
Aarhus University Hospital
2016
Amsterdam UMC Location Vrije Universiteit Amsterdam
2016
RNA-binding motif protein 20 (RBM20) is essential for normal splicing of many cardiac genes, and loss RBM20 causes dilated cardiomyopathy. Given its role in splicing, we hypothesized an important forming circular RNAs (circRNAs), a novel class noncoding RNA molecules.To establish the formation circRNAs heart.Here, performed circRNA profiling on ribosomal depleted from human hearts identified expression thousands circRNAs, with some them regulated disease. Interestingly, 80 to be expressed...
Background: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk malignant ventricular arrhythmias. is splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN thought to be the main determinant RBM20-induced but not likely explain Here, we investigated extent which mutation carriers have arrhythmias explore...
Abstract Aims In the heart, splicing factors orchestrate functional properties of cardiomyocytes by regulating alternative multiple genes. Work in embryonic stem cells has shown that factor Quaking (QKI) regulates during cardiomyocyte differentiation. However, relevance and function QKI adult remains unknown. this study, we aim to identify vivo mouse heart. Methods results We generated mice with conditional deletion Cre-Lox system. Mice cardiomyocyte-specific died foetal period (E14.5),...
Circular RNAs (circRNAs) are a relatively new class of RNA molecules, and knowledge about their biogenesis function is still in its infancy. It was recently shown that alternative splicing underlies the formation circular (circRNA) arising from Titin (TTN) gene. Since main mechanism by which circRNAs formed unclear, we hypothesized splicing, particular exon skipping, major driver circRNA production. We performed sequencing on human mouse hearts, mapped events, overlaid these with expressed...
Abstract Background Congenital long QT syndrome (LQTS) is a rare heart disease caused by various underlying mutations. Most general cardiologists do not routinely see patients with congenital LQTS and may always recognize the accompanying ECG features. In addition, proportion of carriers display obvious abnormalities on their ECG. Combined, this can cause underdiagnosing potentially life-threatening disease. Methods This study presents 1D convolutional neural network models trained to...
Background: TTN (Titin), the largest protein in humans, forms molecular spring that spans half of sarcomere to provide passive elasticity cardiomyocyte. Mutations disrupt transcript are most frequent cause hereditary heart failure. We showed before produces a class circular RNAs (circRNAs) depend on RBM20 be formed. In this study, we show back-splice junction formed by circRNAs creates unique motif binds SRSF10 enable it regulate splicing. Furthermore, one these (cTTN1) distorts both...
ABSTRACT Circular RNAs (circRNAs) are a class of non-coding RNA molecules that gaining increasing attention for their roles in various pathophysiological processes. The RNA-binding protein quaking (QKI) has been identified as regulator circRNA formation. In this study, we investigate the role QKI formation circRNAs heart by performing RNA-sequencing on Qki-knockout mice. Loss resulted differential expression 17% adult mouse hearts. Interestingly, majority QKI-regulated (58%) were derived...
Circular RNAs (circRNAs) are a newly appreciated class of non-coding RNA molecules. Numerous tools have been developed for the detection circRNAs, however computational to perform downstream functional analysis circRNAs scarce.We present circRNAprofiler, an R-based framework that runs after identified. It allows combine detected by multiple publicly available annotation-based circRNA and analyze their expression, genomic context, evolutionary conservation, biogenesis putative...
Abstract Background Dysregulation of the host immune response is a pathognomonic feature sepsis. Abnormal physiological conditions are understood to shift efficient linear splicing protein-coding RNA towards non-canonical splicing, characterized by accumulation non-coding circularized (circ)RNA. CircRNAs remain unexplored in specific peripheral blood mononuclear cells (PBMCs) during We here sought identify and characterize circRNA expression PBMCs patients with sepsis due community-acquired...
Light is the main environmental stimulus that synchronizes endogenous timekeeping systems in most terrestrial organisms. Drosophila cryptochrome (dCRY) a light-responsive flavoprotein detects changes light intensity and wavelength around dawn dusk. We have previously shown dCRY acts through Inactivation No Afterpotential D (INAD) light-dependent manner on Signalplex, multiprotein complex includes visual-signaling molecules, suggesting role for fly vision. Here, we predict demonstrate novel...
Eukaryotic genomes contain a tiny subset of 'minor class' introns with unique sequence elements that require their own splicing machinery. These minor are present in certain gene families specific functions, such as voltage-gated Na+ and Ca2+ channels. Removal by the spliceosome has been proposed post-transcriptional regulatory layer, which remains unexplored heart. Here, we investigate whether regulates electrophysiological properties cardiomyocytes knocking down essential small nuclear...