A5101516329- bioluminescence and chemiluminescence research
- Education Methods and Technologies
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Chromatin Remodeling and Cancer
- Glioma Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Sociology and Education Studies
- Genomics and Phylogenetic Studies
- Gene expression and cancer classification
- Cancer Genomics and Diagnostics
- Hedgehog Signaling Pathway Studies
- Soft tissue tumor case studies
- Alzheimer's disease research and treatments
- Cancer-related gene regulation
- Advancements in PLL and VCO Technologies
- Cancer Mechanisms and Therapy
- Chemical Reactions and Isotopes
- Genetic Syndromes and Imprinting
- Mitochondrial Function and Pathology
- Single-cell and spatial transcriptomics
- Analog and Mixed-Signal Circuit Design
- Cancer-related molecular mechanisms research
- Porphyrin Metabolism and Disorders
- Organ Transplantation Techniques and Outcomes
University of Auckland
2024
Office of Technology Assessment at the German Bundestag
2017-2024
Institute of Technology Assessment
1996-2024
Karlsruhe Institute of Technology
1996-2024
Ubiquitous Energy (United States)
2024
Forschungs- und Entwicklungszentrum Fachhochschule Kiel (Germany)
2024
Deutscher Bundestag
2021-2024
University Medical Center of the Johannes Gutenberg University Mainz
2019-2023
Johannes Gutenberg University Mainz
2018-2023
McGill University
2012-2022
Protein coding genes constitute approximately 1% of the human genome but harbor 85% mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete regions (i.e., "whole exome") have potential to contribute our understanding diseases. We used a method whole-exome coupling Agilent capture Illumina DNA-sequencing platform, and investigated two unrelated fetuses from nonconsanguineous families Fowler Syndrome (FS), stereotyped...
Abstract Human prion diseases include Creutzfeldt‐Jakob disease, Gerstmann‐Sträussler‐Scheinker fatal familial insomnia, and kuru. Each of these has a specific clinical presentation while spongiform encephalopathy, neuronal loss, gliosis are their neuropathological hallmarks. We studied Brazilian family with an autosomal dominant form dementia. Nine members the were affected by dementia frontotemporal features, mean age at onset 44.8 ± 3.8 years duration symptoms 4.2 2.4 years....
Pineoblastomas occur in RB-1 mutation carriers,1 but are rarely seen association with other hereditary syndromes.2 Germline DICER1 mutations associated embryonal tumours such as pleuropulmonary blastoma (PPB),3 ,4 so we hypothesised that might also children pineoblastoma. Here describe a novel deleterious germline young child highly aggressive In addition, observed loss of heterozygosity (LOH) the wild-type allele, an event not previously reported tumours.5 ,6 Our observations suggest: (1)...
Abstract Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive central nervous system characterized by loss of SMARCB1/INI1 protein expression and comprises three distinct molecular groups, ATRT–TYR, ATRT–MYC ATRT–SHH. ATRT–SHH represents the largest group heterogeneous with regard to age, location epigenetic profile. We, therefore, aimed investigate if heterogeneity within might also have biological clinical importance. Consensus clustering DNA methylation profiles confirmatory t-SNE...
Medulloblastomas (MBs) are primitive neuroectodermal tumors (PNET) of the cerebellum. They represent most frequent malignant pediatric brain tumors, but their origin still remains unresolved and controversial. MB cells correspond to different stages neural development differentiation as illustrated by expression neuronal glial markers. In present study, we examined pattern common low-affinity neurotrophin receptor p75NTR in a series 167 MBs immunohistochemistry. While was only 17% classic...
Intravascular papillary endothelial hyperplasia is an interesting proliferation, the nature of which has aroused some controversy. Five cases were studied by light microscopy and immunohistochemistry using antibodies to Factor VHI‐related antigen (FVIII‐rAg), ferritin, α1‐antitrypsin, α1‐antichymotrypsin vimentin compared with conventional intravascular organizing thrombi. The results show a similar progression immunophenotype cells in both entities: they are initially positive for then...
Medulloblastoma (MB) is a primitive neuroectodermal tumour of the cerebellum whose pathogenesis poorly understood. Previous studies suggest role for loci on chromosomes 11p and 17p in MB. Evidence another potential MB locus has recently emerged from Gorlin syndrome (GS). an autosomal dominant with multiple basal cell carcinomas, epithelial jaw cysts, skeletal anomalies. Since GS can be associated MB, we examined sporadic (non–GS) cases evidence loss heterozygosity (LOH) chromosome 9 where...