- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- Plant Molecular Biology Research
- Inflammasome and immune disorders
- interferon and immune responses
- Epigenetics and DNA Methylation
- Immunotherapy and Immune Responses
- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- Hearing, Cochlea, Tinnitus, Genetics
- Peptidase Inhibition and Analysis
- Long-Term Effects of COVID-19
- RNA and protein synthesis mechanisms
- Immune Cell Function and Interaction
- Ubiquitin and proteasome pathways
- Signaling Pathways in Disease
- Nuclear Structure and Function
- IL-33, ST2, and ILC Pathways
University Hospital Bonn
2022-2025
University of Bonn
2022-2025
Institute of Clinical Research
2022
Imperial College London
2018-2021
MRC London Institute of Medical Sciences
2018-2021
King's College London
2019
Cohesin and CTCF are major drivers of 3D genome organization, but their role in neurons is still emerging. Here, we show a prominent for cohesin the expression genes that facilitate neuronal maturation homeostasis. Unexpectedly, observed two classes activity-regulated with distinct reliance on mouse primary cortical neurons. Immediate early (IEGs) remained fully inducible by KCl BDNF, short-range enhancer-promoter contacts at IEGs
Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding development of therapies. We took a genetic approach to identify new molecules involved in by screening large cohort newly generated mouse mutants using sensitive electrophysiological test, auditory brainstem response (ABR). review here findings from this screen. Thirty-eight unexpected genes associated with raised thresholds were detected our unbiased sample 1,211 tested,...
Abstract Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, major regulator 3D genome organization. Cognitive impairment universal and as yet unexplained feature CdLS. We characterize transcriptional profile cortical neurons from CdLS patients find deregulation hundreds genes enriched for neuronal functions related to synaptic transmission, signalling processes, learning behaviour. Inducible proteolytic cleavage...
The CEBPA transcription factor is frequently mutated in acute myeloid leukemia (AML). Mutations the gene, which are typically biallelic, result production of a shorter isoform known as p30. Both canonical 42-kDa (p42) and AML-associated p30 bind chromatin activate transcription, but specific transcriptional programs controlled by each protein how they linked to selective advantage AML not well understood. Here, we show that cells expressing have reduced baseline inflammatory gene expression...
Abstract Cohesin and CTCF are major drivers of 3D genome organization, but their role in neurons is still emerging. Here we show a prominent for cohesin the expression genes that facilitate neuronal maturation homeostasis. Unexpectedly, observed two classes activity-regulated with distinct reliance on primary cortical neurons. Immediate early remained fully inducible by KCl BDNF, short-range enhancer-promoter contacts at gene Fos formed robustly absence cohesin. In contrast, was required...
Abstract Immune response genes are highly polymorphic in humans and mice, with heterogeneity amongst loci driving strain-specific host defense responses. The inadvertent retention of can introduce confounding phenotypes, leading to erroneous conclusions, impeding scientific advancement. In this study, we employ a combination RNAseq variant calling analyses identify substantial region 129S genome, including the Nlrp1 locus proximal Nlrp3 , one most commonly used mouse models NLRP3 deficiency....
Abstract Immune response genes are highly polymorphic in humans and mice, with heterogeneity amongst loci driving strain-specific host defense responses. The inadvertent retention of can introduce confounding phenotypes, leading to erroneous conclusions, impeding scientific advancement. In this study, we employ a combination RNAseq variant calling analyses identify substantial region 129S genome, including the Nlrp1 locus proximal Nlrp3 , one most commonly used mouse models NLRP3 deficiency....
Abstract Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, major regulator 3D genome organization. Cognitive impairment universal and as yet unexplained feature CdLS. We characterized transcriptional profile cortical neurons from CdLS patients found deregulation hundreds genes enriched for neuronal functions related to synaptic transmission, signalling processes, learning behaviour. Inducible proteolytic cleavage...