A5037753660- Congenital heart defects research
- Congenital Heart Disease Studies
- Pluripotent Stem Cells Research
- Tissue Engineering and Regenerative Medicine
- CRISPR and Genetic Engineering
- Cardiac Valve Diseases and Treatments
- RNA modifications and cancer
- Cardiac Fibrosis and Remodeling
- Cardiomyopathy and Myosin Studies
- Aortic Disease and Treatment Approaches
- Single-cell and spatial transcriptomics
- Neuroscience and Neural Engineering
- Genomics and Chromatin Dynamics
- MicroRNA in disease regulation
- 3D Printing in Biomedical Research
- RNA Research and Splicing
- Circular RNAs in diseases
- Health, Environment, Cognitive Aging
- Cell Adhesion Molecules Research
- Cardiovascular Function and Risk Factors
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Bariatric Surgery and Outcomes
- Nutrition and Health in Aging
- Aortic aneurysm repair treatments
Deutsches Herzzentrum München
2016-2025
Technical University of Munich
2015-2024
Heidelberg University
2024
Heidelberg University
2024
München Klinik
2009-2021
Klinikum rechts der Isar
2021
Radboud University Nijmegen
2019
Radboud University Medical Center
2019
Deutsches Herzzentrum der Charité
2014-2018
Abstract The heart is a central human organ and its diseases are the leading cause of death worldwide, but an in-depth knowledge identity quantity constituent proteins still lacking. Here, we determine healthy proteome by measuring 16 anatomical regions three major cardiac cell types high-resolution mass spectrometry-based proteomics. From low microgram sample amounts, quantify over 10,700 in this high dynamic range tissue. We combine copy numbers per with protein organellar assignments to...
Epigenetic mechanisms and transcription factor networks essential for differentiation of cardiac myocytes have been uncovered. However, reshaping the epigenome these terminally differentiated cells during fetal development, postnatal maturation, in disease remains unknown. Here, we investigate dynamics myocyte development chronic heart failure. We find that prenatal maturation are characterized by a cooperation active CpG methylation histone marks at cis-regulatory genic regions to shape...
Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but still remain ill defined. We sought to identify genetic risk associated with CHD and accomplish a functional analysis SNP-carrying genes. performed genome-wide association study (GWAS) 4034 White patients 8486 healthy controls. One SNP on chromosome 5q22.2 reached significance across all phenotypes was also indicative for septal defects. region 20p12.1 pointing MACROD2 locus identified 4 highly...
Complex molecular programs in specific cell lineages govern human heart development. Hypoplastic left syndrome (HLHS) is the most common and severe manifestation within spectrum of ventricular outflow tract obstruction defects occurring association with hypoplasia. The pathogenesis HLHS unknown, but hemodynamic disturbances are assumed to play a prominent role. To identify perturbations gene controlling muscle lineage development HLHS, we performed whole-exome sequencing 87 parent-offspring...
Abstract Cardiogenesis relies on the precise spatiotemporal coordination of multiple progenitor populations. Understanding specification and differentiation these distinct pools during human embryonic development is crucial for advancing our knowledge congenital cardiac malformations designing new regenerative therapies. By combining genetic labelling, single-cell transcriptomics, ex vivo human-mouse chimeras we uncovered that modulation retinoic acid signaling instructs pluripotent stem...
The present study aims to characterize the genetic risk architecture of bicuspid aortic valve (BAV) disease, most common congenital heart defect.
Here, the study presents a thermally activated cell-signal imaging (TACSI) microrobot, capable of photothermal actuation, sensing, and light-driven locomotion. The plasmonic soft microrobot is specifically designed for thermal stimulation mammalian cells to investigate cell behavior under heat active conditions. Due integrated thermosensitive fluorescence probe, Rhodamine B, system allows dynamic measurement induced temperature changes. TACSI microrobots show excellent biocompatibility over...
Abstract Aims The role of circular RNAs (circRNAs) and their regulation in health disease are poorly understood. Here, we systematically investigated the temporally resolved transcriptomic expression circRNAs during differentiation human induced pluripotent stem cells (iPSC) into vascular endothelial (EC) smooth muscle (SMC) explored potential as biomarkers for disease. Methods Results Using high-throughput RNA sequencing a de novo circRNA detection pipeline, quantified daily levels 31,369...
Acute type A aortic dissection (ATAAD) constitutes a life-threatening pathology with significant morbidity and mortality. Without surgical intervention the usual mortality rate averages between 1 2% per hour. Thus, an early diagnosis of ATAAD is pivotal importance to direct affected patients appropriate treatment. Preceding tests find biomarker showed among others increased aggrecan (ACAN) mRNA expression in tissue patients. As consequence, we investigated whether ACAN potential for...
Importance In patients with acute coronary syndrome (ACS) undergoing invasive treatment, ticagrelor and prasugrel are guideline-recommended P2Y12 receptor inhibitors. The ISAR-REACT5 randomized clinical trial demonstrated superiority for prasugrel, although concerns were raised about the generalizability of some underpowered subgroup analyses. Objectives To emulate a evaluating safety effectiveness vs under conditions routine care in individuals ACS planned to undergo an treatment strategy....
The generation of induced pluripotent stem (iPS) cells has successfully been achieved in many species. However, the identification truly reprogrammed iPS still remains laborious and detection pluripotency markers requires fixation most cases. Here, we report an approach with nanoparticles carrying Cy3-labeled sense oligonucleotide reporter strands coupled to gold-particles. These molecules are directly added cultured without any manipulation gene expression is evaluated microscopically after...
In many cases congenital heart disease (CHD) is represented by a complex phenotype and an array of several functional morphological cardiac disorders. These malformations will be briefly summarized in the first part focusing on two severe CHD phenotypes, hypoplastic left syndrome (HLHS) tetralogy Fallot (TOF). most genetic origin remains largely unknown, though complexity clinical picture strongly argues against dysregulation which can attributed to single candidate gene but rather suggests...
Background The Holt–Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of male, 15-month-old patient being investigated for strict diagnostic criteria HOS. Methods results Genetic analysis revealed so far unpublished TBX5 mutation, which occurs de novo in the healthy parents. belongs to large family T-box transcription factors playing...
MicroRNAs (miRs) appear to be major, yet poorly understood players in regulatory networks guiding cardiogenesis. We sought identify miRs with unknown functions during cardiogenesis analyzing the miR-profile of multipotent Nkx2.5 enhancer cardiac progenitor cells (NkxCE-CPCs). Besides well-known candidates such as miR-1, we found about 40 that were highly enriched NkxCE-CPCs, four which chosen for further analysis. Knockdown zebrafish revealed only miR-128a affected development and function...
Abstract Cardiosphere-derived cells (CDCs) generated from human cardiac biopsies have been shown to disease-modifying bioactivity in clinical trials. Paradoxically, CDCs’ cellular origin the heart remains elusive. We studied molecular identity of CDCs using single-cell RNA sequencing (sc-RNAseq) comparison non-myocyte and non-hematopoietic (cardiac fibroblasts/CFs, smooth muscle cells/SMCs endothelial cells/ECs). identified as a distinct mitochondria-rich cell type that shared biological...