A5103138558- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- RNA modifications and cancer
- Plant Physiology and Cultivation Studies
- Cardiac Structural Anomalies and Repair
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
- Neurobiology and Insect Physiology Research
- Neuroscience and Neuropharmacology Research
- Plant tissue culture and regeneration
- Genetics and Neurodevelopmental Disorders
- Bioinformatics and Genomic Networks
- Insect Pest Control Strategies
- Viral Infections and Immunology Research
- Ion Channels and Receptors
- Banana Cultivation and Research
- Congenital heart defects research
- Tissue Engineering and Regenerative Medicine
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Neural dynamics and brain function
- CRISPR and Genetic Engineering
- Postharvest Quality and Shelf Life Management
- Genetic Associations and Epidemiology
- Date Palm Research Studies
New York University
2024
German Centre for Cardiovascular Research
2017-2021
University Hospital Heidelberg
2015-2021
Heidelberg University
2015-2021
Siemens Healthcare (Germany)
2017
DKFZ-ZMBH Alliance
2017
German Cancer Research Center
2017
Epigenomics (Germany)
2017
Siemens (Austria)
2017
Statistics Austria
2017
In this study, we aimed to clinically and genetically characterize LVNC patients investigate the prevalence of variants in known novel disease genes.Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause heart failure, arrhythmia, thromboembolism, sudden cardiac death. We sought here dissect its genetic causes, phenotypic presentation outcome.In our registry with follow-up median 61 months, analysed 95 (68 unrelated index 27 affected relatives; definite...
Biochemical DNA modification resembles a crucial regulatory layer among genetic information, environmental factors, and the transcriptome. To identify epigenetic susceptibility regions novel biomarkers linked to myocardial dysfunction heart failure, we performed first multi-omics study in tissue blood of patients with dilated cardiomyopathy controls.Infinium human methylation 450 was used for high-density epigenome-wide mapping left-ventricular biopsies whole peripheral living probands. RNA...
Research Article14 November 2017Open Access Source DataTransparent process Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy Jan Haas Department Internal Medicine III, University Heidelberg, Germany DZHK (German Centre for Cardiovascular Research), Search more papers by this author Stefan Mester Alan Lai Karen S Frese Farbod Sedaghat-Hamedani Elham Kayvanpour Tobias Rausch EMBL (European Molecular Biology Laboratory),...
Alternative mRNA splicing is a fundamental process to increase the versatility of genome. In humans, cardiac involved in pathophysiology heart failure. Mutations factor RNA binding motif protein 20 (RBM20) cause severe forms cardiomyopathy. To identify novel cardiomyopathy-associated factors, RNA-seq and tissue-enrichment analyses were performed, which identified up-regulated expression Sam68-Like mammalian 2 (SLM2) left ventricle dilated cardiomyopathy (DCM) patients. human heart, SLM2...
Next-generation sequencing (NGS) is getting routinely used in the diagnosis of hereditary diseases, such as human cardiomyopathies. Hence, it utter importance to secure high quality data, enabling identification disease-relevant mutations or conclusion negative test results. During process sample preparation, each protocol for target enrichment library preparation has its own requirements control (QC); however, there little evidence on actual impact these guidelines resulting data quality....
Abstract Can the transcriptomic profile of a neuron predict its physiological properties? Using Patch-seq dataset primary visual cortex, we addressed this question by focusing on spike rate adaptation (SRA), well-known phenomenon that depends small conductance calcium (Ca)-dependent potassium (SK) channels. We first show in parvalbumin-expressing (PV) and somatostatin-expressing (SST) interneurons (INs), expression levels genes encoding ion channels underlying action potential generation are...
The search for a parameter representing left ventricular relaxation from non-invasive and invasive diagnostic tools has been extensive, since heart failure (HF) with preserved ejection fraction (HF-pEF) is global health problem. We explore here the feasibility using patient-specific cardiac computer modeling to capture diastolic parameters in patients suffering different degrees of systolic HF. Fifty eight idiopathic dilated cardiomyopathy have undergone thorough clinical evaluation,...