A5052051619- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Epigenetics and DNA Methylation
- Blood disorders and treatments
- Chronic Myeloid Leukemia Treatments
- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Genetics and Neurodevelopmental Disorders
- Advanced Biosensing Techniques and Applications
- RNA modifications and cancer
- Genomics and Rare Diseases
- Childhood Cancer Survivors' Quality of Life
- Cancer, Hypoxia, and Metabolism
- Cell Image Analysis Techniques
- Single-cell and spatial transcriptomics
- RNA Interference and Gene Delivery
- Neuroblastoma Research and Treatments
- Pluripotent Stem Cells Research
- Chronic Lymphocytic Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Metabolism and Genetic Disorders
Centre de Recherche en Cancérologie de Toulouse
2018-2025
Université de Toulouse
2018-2025
La Ligue Contre le Cancer
2023-2025
Inserm
2018-2023
Université Toulouse III - Paul Sabatier
2018-2023
Centre National de la Recherche Scientifique
2023
Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features 78 GATA2-deficient patients. Hematopoietic stem progenitor cell phenotypic characterization revealed an exhaustion progenitors. Somatic in STAG2, ASXL1 SETBP1 genes along with cytogenetic abnormalities (monosomy 7, trisomy 8, der(1;7)) occurred frequently patients germline Patients were classified into three...
GATA2 germline mutations lead to a syndrome characterized by immunodeficiency, vascular disorders and myeloid malignancies. To elucidate how these affect hematopoietic homeostasis, we created knock-in mouse model expressing the recurrent Gata2 R396Q missense mutation. Employing molecular functional approaches, investigated mutation's impact on hematopoiesis, revealing significant alterations in stem progenitor (HSPC) compartment young age. These include increased LT-HSC numbers, reduced...
Abstract The transcription factor PAX5 is a major target of genetic alterations in human B-cell precursor acute lymphoblastic leukemia (B-ALL). Among the alterations, P80R mutation affecting DNA-binding domain represents most frequent point B-ALL. In contrast to other somatic mutations, PAX5P80R defines distinct B-ALL subtype characterized by unique transcriptional program. Here, we aimed develop model elucidate mechanism which perturbs normal differentiation and oncogenic relays involved...
PAX5 is a well-known haploinsufficient tumor suppressor gene in human B-cell precursor acute lymphoblastic leukemia (B-ALL) and involved various chromosomal translocations that fuse part of with other partners. However, the role fusion proteins B-ALL initiation transformation ill-known. We previously reported new recurrent t(7;9)(q11;p13) translocation juxtaposed to coding sequence elastin (ELN). To study function resulting PAX5-ELN protein development, we generated knockin mouse model which...
B cell acute lymphoblastic leukemia (B-ALL) is a multistep disease characterized by the hierarchical acquisition of genetic alterations. However, question how primary oncogene reprograms stem cell–like properties in committed cells and leads to preneoplastic population remains unclear. Here, we used PAX5::ELN oncogenic model demonstrate causal link between differentiation blockade, self-renewal, emergence preleukemic (pre-LSCs). We show that disrupts enforcing IL7r/JAK-STAT pathway. This...
Abstract Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis leading to peripheral cytopenias and in substantial proportion cases acute myeloid leukemia. The deletion the long arm chromosome 11, del(11q), is rare but recurrent event MDS. Here, we detail largest series 113 MDS myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) harboring del(11q) analyzed at clinical, cytological,...
We are happy to share the First UNICORN ★ Protocol on behalf of Hemato. How perform affordable immunofluorescence staining bones or other tissues without cryostat This method is an adaptation from - Multicolor quantitative confocal imaging cytometry published by Daniel Coutu et al. in Nature Method 2017 (see supplemental methods compose your buffers!) IBEX: A versatile multiplex optical approach for deep phenotyping and spatial analysis cells complex Andrea Radtke PNAS 2020 Not being experts...
Abstract Germline GATA2 mutations lead to a syndrome involving both immunodeficiency and myeloid malignancies. Since is key player in hematopoietic initiation development, we specify the impact of these germline on homeostasis by generated knock-in mouse model expressing recurrent Gata2 R396Q missense mutation. These mice exhibit stem progenitor cell (HSPC) compartment profoundly impacted with increased HSC number, decreased self-renewal potential inability respond acute inflammatory...