A5044608974- MicroRNA in disease regulation
- RNA Research and Splicing
- Stress Responses and Cortisol
- Tryptophan and brain disorders
- Cancer-related molecular mechanisms research
- Chromatin Remodeling and Cancer
- Genomics and Chromatin Dynamics
- Neuroscience and Neuropharmacology Research
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Epigenetics and DNA Methylation
- Peptidase Inhibition and Analysis
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
Johannes Gutenberg University Mainz
2023-2025
University Medical Center of the Johannes Gutenberg University Mainz
2023-2024
Abstract Chronic stress has become a predominant factor associated with variety of psychiatric disorders, such as depression and anxiety, in both human animal models. Although multiple studies have looked at transcriptional changes after social defeat stress, these primarily focus on bulk tissues, which might dilute important molecular signatures interaction activated cells. In this study, we employed the Arc-GFP mouse model conjunction chronic (CSD) to selectively isolate nuclei (AN)...
Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical molecular data on a large cohort.Clinical symptoms for 41 novel 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, standardized grouped into non-truncating likely gene-disrupting (LGD) variants....
Abstract microRNAs are crucial regulators of brain development, however, miRNA regulatory networks not sufficiently well characterized. By performing small RNA-seq the mouse embryonic cortex at E14, E17, and P0 as in neural progenitor cells neurons, here we detected clusters miRNAs that were co-regulated distinct developmental stages. such miR-92a/b acted hubs during early, miR-124 miR-137 late neurogenesis. Notably, validated targets hub enriched for downregulated genes related to stem cell...
Hintergrund: Mitochondriale Kardiomyopathien beruhen auf einem muskulären Energiemangel, der durch Atmungskettendefekte verursacht ist. Ursächliche Veränderungen können sowohl in nukleären als auch mitochondrialen Genen zu finden sein. Das nukleär kodierte MALSU1 Protein spielt eine Rolle bei Bildung und Aufrechterhaltung großen Untereinheit mitochondrialer Ribosomen, die für Proteinbiosynthese verantwortlich sind.
Summary While random X-chromosome inactivation in female cells of placental mammalians silences one allele the majority X-chromosomal genes, a considerable fraction is only incompletely and variably inactivated resulting tissue-specific pattern mono- biallelic expression. Here we used clonal human induced pluripotent stem (iPSCs) allowing to trace (in)activation status two X-chromosomes individually along neural differentiation trajectories. We discovered X-chromosome-wide locus-...
Abstract Chronic stress has become a predominant factor associated with variety of psychiatric disorders, such as depression and anxiety, in both humans animal models. Although multiple studies have looked at transcriptional changes after social defeat stress, these mostly focus on bulk tissues, which might dilute important molecular signatures interaction activated cells. In this study, we employed the Arc-GFP mouse model conjunction chronic (CSD) to selectively isolate nuclei (AN)...
RBFOX2 is an RNA-binding protein crucial for alternative splicing regulation and implicated in several neurodevelopmental disorders. Here, we show that while present only at low levels neural progenitor cells (NPCs), it upregulated differentiating neurons of the mouse embryonic neocortex. In-utero-electroporation-induced overexpression resulted a cellular phenotype characterized by impaired neuronal migration differentiation. Genome-wide analysis E15.5 revealed numerous events associated...
<title>Abstract</title> Susceptibility to chronic social stressors often results in the development of mental health disorders including major depressive and anxiety disorders. In contrast, some individuals remain resilient even after repeated stress exposure. Understanding molecular drivers behind these divergent phenotypic outcomes is crucial. However, previous studies using defeat (CSD) model have been limited by use bulk tissues investigating single omics domains. To overcome...
ABSTRACT PURPOSE Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical molecular data on a large cohort. METHODS Clinical symptoms for 41 novel 24 previously published cases were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlation, standardized grouped into non-truncating likely gene-disrupting...
Abstract microRNAs are particularly important during brain development, however, the composition and temporal dynamics of miRNA regulatory networks not sufficiently characterized. Here, we performed small RNA sequencing mouse embryonic cortical samples at E14, E17, P0 as well in neural progenitor cells differentiated vitro into neurons. Using co-expression network analysis, detected clusters miRNAs that were co-regulated distinct developmental stages. such miR-92a/b acted hubs early, miR-124...