A5042625820- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Eosinophilic Disorders and Syndromes
- Kruppel-like factors research
- SARS-CoV-2 detection and testing
- SARS-CoV-2 and COVID-19 Research
- Acute Lymphoblastic Leukemia research
- Multiple Myeloma Research and Treatments
- Cancer Genomics and Diagnostics
- Viral gastroenteritis research and epidemiology
- Extracellular vesicles in disease
- Epigenetics and DNA Methylation
- Biosensors and Analytical Detection
- Prenatal Screening and Diagnostics
- Influenza Virus Research Studies
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Respiratory viral infections research
- Fecal contamination and water quality
- Light effects on plants
- Hemoglobinopathies and Related Disorders
- Seed and Plant Biochemistry
- GABA and Rice Research
- Salmonella and Campylobacter epidemiology
Thermo Fisher Scientific (United States)
2022-2024
Medical University of Vienna
2018-2023
Ludwig Boltzmann Institute for Digital Health and Prevention
2019-2020
CeMM Research Center for Molecular Medicine
2012-2019
Austrian Academy of Sciences
2011-2019
Ludwig Boltzmann Cluster for Cardiovascular Research
2018
University of Belgrade
2006-2015
Hôpital Cochin
2014
Assistance Publique – Hôpitaux de Paris
2014
Université Paris Cité
2014
Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 10% have activating mutations thrombopoietin receptor (MPL). So far, no specific molecular marker has been identified remaining 30 45% patients.We performed whole-exome sequencing identify somatically acquired six who had without JAK2 MPL. Resequencing CALR, encoding calreticulin, was then cohorts myeloid neoplasms.Somatic...
Myeloproliferative neoplasm (MPN) patients frequently show co-occurrence of JAK2-V617F and mutations in epigenetic regulator genes, including EZH2. In this study, we that loss Ezh2 hematopoietic cells contribute synergistically to the development MPN. The MPN phenotype induced by was accentuated JAK2-V617F;Ezh2−/− mice, resulting very high platelet neutrophil counts, more advanced myelofibrosis, reduced survival. These mice also displayed expansion stem cell progenitor compartments a shift...
Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining repair. This study defines incidence chromothripsis 395 newly diagnosed adult acute myeloid leukemia (AML) patients three institutions, its impact on survival genomic background. SNP 6.0 CytoscanHD Array (Affymetrix®) were performed all samples. We detected with custom algorithm 26/395 patients. Patients harboring had higher age...
Chronic myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) have an inherent tendency to progress acute myeloid leukemia (AML). Using high-resolution SNP microarrays, we studied a total of 517 MPN MDS patients in different disease stages, including 77 AML cases with previous history (N = 46) or 31). Frequent chromosomal deletions variable sizes were detected, allowing the mapping putative tumor suppressor genes involved leukemic transformation process. We detected frequent...
BackgroundWhole-genome sequencing (WGS) is the gold standard diagnostic tool to identify and genetically characterise emerging pathogen mutations (variants), but cost, capacity, timeliness limit its use when large populations need rapidly assessing. We assessed potential of genotyping assays provide accurate timely variant information at scale by retrospectively examining surveillance for SARS-CoV-2 variants in England between March September, 2021, were used widely detection.MethodsWe chose...
The study aimed to identify genetic lesions associated with secondary acute myeloid leukemia (sAML) in comparison AML arising de novo (dnAML) and assess their impact on patients' overall survival (OS). High-resolution genotyping loss of heterozygosity mapping was performed DNA samples from 86 sAML 117 dnAML patients, using Affymetrix Genome-Wide Human SNP 6.0 arrays. Genes TP53, RUNX1, CBL, IDH1/2, NRAS, NPM1, FLT3 were analyzed for mutations all patients. We identified 36 recurrent...
Abstract Myeloproliferative neoplasms (MPN) are chronic stem cell disorders characterized by enhanced proliferation of myeloid cells, immune deregulation, and drug resistance. JAK2 somatic mutations drive the disease in 50–60% CALR 25–30% cases. Published data suggest that ‐V617F‐mutated MPN cells express resistance‐related checkpoint PD‐L1. By applying RNA‐sequencing on granulocytes 113 patients, we demonstrate PD‐L1 expression is highest among polycythemia vera patients correlates with...
Molecular multiplex assays (MPAs) for simultaneous detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza and syncytial virus (RSV) in a single RT-PCR reaction reduce time increase efficiency to identify multiple pathogens with overlapping clinical presentation but different treatments or public health implications. Clinical performance XpertXpress® SARS-CoV-2/Flu/RSV (Cepheid, GX), TaqPath™ COVID-19, FluA/B, RSV Combo kit (Thermo Fisher Scientific, TP),...
Myeloproliferative neoplasms (MPN) are characterized by uncontrolled expansion of myeloid cells, disease-related mutations in certain driver-genes including JAK2, CALR, and MPL, a substantial risk to progress secondary acute leukemia (sAML). Although behaving as stem cell neoplasms, little is known about disease-initiating cells MPN. We established the phenotype putative CD34