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个人简介
Prof. Dr. med. Anja Harder, neé Klose, PhD
SCIENTIFIC EXPERTISE
• Molecular mechanisms of neurofibromatoses, particularly Neurofibromatosis type 1 (NF1) and peripheral nerve sheath tumors.
• Perinatal factors in the development of nervous system tumors.
• Studies of neurodegenerative diseases, particularly Fatal Familial insomnia (FFI).
RESEARCH CARRIER: NEUROFIBROMATOSIS / PERIPHERAL NERVE SHEATH TUMORS
Since I started to work for my thesis in 1995 my main research topic focusses on the molecular basis of Neurofibromatosis Type 1 (NF1) including pathogenesis of peripheral nerve sheath tumors (PNSTs). I studied phenotype-genotype-correlations of NF1 and established a comprehensive mutation analysis spanning the entire NF1 gene, including a detailed characterization of detected genetic alterations. We characterized several single NF1 base pair changes, such as R1276P which is leading to a complete inactivation of the GAP related domain of the neurofibromin altering protein structure or RAS-GTP-binding and which has become a biochemical model to analyze NF1 mediated RAS inactivation in-vitro (https://doi.org/10.1093/hmg/7.8.1261). During my work as medical resident and research fellow at the Institute of Neuropathology at Charité University Hospital (Berlin), my scientific work focused on epigenetics, particularly regarding the role of DNA methylation in the pathogenesis of PNSTs in NF1 (https://doi.org/10.1016/j.ejca.2004.07.021). We also screened for differentially expressed genes being associated with the progression to malignant PNST (MPNST), and identified candidates which might play a role in the progression from plexiform neurofibromas to MPNST such matrix metalloproteinase 13, PDGFRa and fibronectin (https://doi.org/10.1007/s00401-003-0797-8). Since genetic and epigenetic modifiers of NF1 have been suggested to play a key role for different phenotypes, we screened for potential modifiers such mismatch repair genes (MMR) and promoter methylation. We identified MSH2 promoter methylation and MMR single nucleotide polymorphisms be a potential modifier for tumour load in NF1 (https://doi.org/10.1007/s00381-021-05436-w, https://doi.org/10.1038/ejhg.2009.129). We obtained results indicating significant differences in NF1 promoter methylation between monozygotic twins being discordant for their NF1 phenotype (https://doi.org/10.1375/twin.13.6.582). In further experiments, using 2D protein analysis, we detected differentially expressed proteins. One of these, CRABP2 (cellular retinoic acid binding protein 2) was further characterized in NF1 associated tumours (https://doi.org/10.1016/j.ajpath.2017.02.021). From 2010 to 2012 I was affiliated at the Institute of Neuropathology at the University of Münster. My research group focussed on CRABP2 for development of NF1 associated benign and malignant PNSTs (https://doi.org/10.1016/j.ajpath.2017.02.021) and developed a mouse xenotransplantation model for therapeutic use of retinoid acid and MEK inhibitors against human MPNST (https://doi.org/10.1186/s13104-018-3630-0, https://doi.org/10.1371/journal.pone.0187700). We also studied the role of the SWI/SNF complex for PNST and identified a novel candidate gene (https://doi.org/10.1016/j.ajpath.2016.08.019). We characterized an underrecognized entity of peripheral nerve sheath tumours, the hybrid neurofibromas/schwannomas that entered the WHO classification later on (https://doi.org/10.1097/PAS.0b013e31824d3155). In 2019 I received a professorship for neuropathology at Westfählische Wilhelms University Münster. From 2012 until 2015 I build up a division of Neuropathology at the Institute of Pathology at HELIOS Kliniken (Clinics) Berlin running diagnostics for over 250 malignant gliomas per year. From 2016 until 2020 I started working at the newly founded Medical School Theodor Fontane Brandenburg. Here we analyzed metabolic pathways and their therapy in MPNST (https://doi.org/10.1186/s12885-020-07397-w). Since 2020 I founded the CURE NF RESEARCH GROUP (https://www.medizin.uni-halle.de/einrichtungen/sonstige-einrichtungen/cure-nf-research-group) focusing on development of personalized mutation directed therapies in NF1 using stem cell models at the Martin Luther University of Halle. From April 2022 up ti now I am the deputy director of the Institute of Neuropathology at the University Medicine in Mainz. Here we are going to built uo a NF centre.
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CELLSno. 23 (2023): 2758
Stem cell research (2023): 103184-103184
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