A5027121990- Ubiquitin and proteasome pathways
- Head and Neck Cancer Studies
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Cancer, Stress, Anesthesia, and Immune Response
- Connective tissue disorders research
- Cancer Immunotherapy and Biomarkers
- Bladder and Urothelial Cancer Treatments
- Cancer-related molecular mechanisms research
- Aortic Disease and Treatment Approaches
- Genomics and Rare Diseases
- Economic Policies and Impacts
- Congenital heart defects research
- Cancer-related Molecular Pathways
- NF-κB Signaling Pathways
- Brain Metastases and Treatment
- Cancer Diagnosis and Treatment
- Corruption and Economic Development
- Fiscal Policies and Political Economy
- RNA Research and Splicing
- Aortic aneurysm repair treatments
- Cancer-related gene regulation
Heidelberg University
2021-2025
University Hospital Heidelberg
2021-2025
Heidelberg (Poland)
2023
Medical University of Vienna
2021
Perineural invasion is a prevalent pathological finding in head and neck squamous cell carcinoma risk factor for unfavorable survival. An adequate diagnosis of perineural by pathologic examination limited due to the availability tumor samples from surgical resection, which can arise cases definitive nonsurgical treatment. To address this medical need, we established random forest prediction model assessment invasion, including occult characterized distinct cellular molecular features based...
<title>Abstract</title> Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy-number gains (CN gains) 15q11-q13, primarily consisting of a pseudo (iso-)dicentric chromosome 15 [ (i)dic(15) ] or an interstitial duplication, among the most frequent CNVs NDD. The associated Dup15q syndrome is early onset disorder characterized by global developmental delay, behavioral...
Recent studies have highlighted neurons and their associated Schwann cells (SCs) as key regulators of cancer development. However, the mode interaction with tumor or other components microenvironment (TME) remains elusive. We established an SC-related 43-gene set a surrogate for peripheral nerves in TME. Head neck squamous cell carcinoma (HNSCC) from The Cancer Genome Atlas (TCGA) were classified into low, intermediate high SC score groups based on expression this gene set. Perineural...
Abstract Recent studies highlighted SOX2 and SOX9 as key determinants for cancer-cell plasticity demonstrated that cisplatin-induced adaptation in oral squamous cell carcinoma (SCC) is acquired by an inverse regulation of both transcription factors. However, the association between SOX2/SOX9-related genetic programs with risk factors or epigenetic alterations primary head neck SCC (HNSCC), their prognostic value largely unknown. Here, we identified differentially-expressed genes (DEG)...
Purpose: Identification of molecularly-defined cancer subgroups and targeting tumor-specific vulnerabilities have a strong potential to improve treatment response patient outcomes but remain an unmet challenge high clinical relevance, especially in head neck squamous cell carcinoma (HNSC). Experimental design: We established UCHL1-related gene set identify molecularly characterize subgroup within TCGA-HNSC by integrative analysis multi-omics data. An extreme gradient boosting model was...
The aim of this study was to identify causal genetic variants in patients with multiple arterial aneurysms.
Purpose: RAB11B was described previously once with a severe form of intellectual disability. We aim at validation and delineation the role in neurodevelopmental disorders.Methods: present 13 individuals disease-associated variants RAB11B. performed cross-sectional analysis to identify clinical spectrum core phenotype. Additionally, structural effects were assessed by molecular modelling.Results: Seven distinct de novo missense identified, three them recurrent (p.(Gly21Arg), p.(Val22Met)...
Aufgrund der Heterogenität von Plattenepithelkarzinome Kopf- und Halsregion (HNSCC) ist zur Therapieoptimierung eine verlässliche Stratifizierung auf Grundlage molekularen Eigenschaften unerlässlich. Eigene Vorarbeiten belegen UCHL1-positive Tumorzellen in einer substantiellen Anzahl an HNSCC. UCHL1 (ubiquitin C-terminal hydrolase L1) ein neuronaler Marker quantitativ eines bedeutendsten Proteine des ZNS. Das Ziel dieser Studie die molekulare Charakterisierung UCHL1-positiven Tumoren als...
Content Perineural invasion (PNI) is a prevalent pathological finding in head and neck squamous cell carcinoma (HNSCC) of clinical relevance as risk factor for unfavorable prognostic survival. Although the research especially understanding, how PNI develops through nerve-cancer crosstalk has improved over last years, molecular gene signature, which associated with predicts survival between groups, not yet been identified. Gene expression data The Cancer Genome Atlas (TCGA) was used training...
Emerging in different subsites Head and Neck Squamous Cell Carcinoma (HNSCC) are very heterogenous tumors, thus for treatment optimization a stratification based on molecular features is urgently needed.