A5001961671- Glioma Diagnosis and Treatment
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Cancer, Hypoxia, and Metabolism
- Melanoma and MAPK Pathways
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Protein Degradation and Inhibitors
- Mosquito-borne diseases and control
- Renal Diseases and Glomerulopathies
- Platelet Disorders and Treatments
- Vibrio bacteria research studies
- Radiomics and Machine Learning in Medical Imaging
- Hereditary Neurological Disorders
- Pregnancy and preeclampsia studies
- Chronic Myeloid Leukemia Treatments
- Monoclonal and Polyclonal Antibodies Research
- Genetic Neurodegenerative Diseases
- Connective tissue disorders research
- Cancer-related molecular mechanisms research
- Biosimilars and Bioanalytical Methods
- Genomic variations and chromosomal abnormalities
- Circular RNAs in diseases
- Ferroptosis and cancer prognosis
- Cholinesterase and Neurodegenerative Diseases
Sorbonne Université
2016-2025
Pitié-Salpêtrière Hospital
2020-2025
Inserm
2019-2024
Sorbonne Paris Cité
2018-2024
Production et analyse de données en sciences de la vie et en santé
2021-2024
Université Paris Cité
2017
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced DNA from cases with unexplained dominant identified six likely pathogenic variants five are novel. observed low repressive activity all tested ETV6 variants, located binding domain (encoding p.A377T, p.Y401N) led reduced corepressors. also large expansion megakaryocyte...
Background Biopharmaceutical products (BPs) are widely used to treat autoimmune diseases, but immunogenicity limits their efficacy for an important proportion of patients. Our knowledge patient-related factors influencing the occurrence antidrug antibodies (ADAs) is still limited. Methods and findings The European consortium ABIRISK (Anti-Biopharmaceutical Immunization: prediction analysis clinical relevance minimize RISK) conducted a genomic multicohort prospective study 560 patients with...
Malaria is caused by protozoan parasites of the genus Plasmodium and remains a global health concern. The parasite has highly adaptable life cycle comprising successive rounds asexual replication in vertebrate host sexual maturation mosquito vector Anopheles. Genetic manipulation been instrumental for deciphering function genes. Conventional reverse genetic tools cannot be used to study essential genes blood stages, thereby necessitating development conditional strategies. Among various such...
Fatty acid oxidation (FAO), the main source of energy produced by tubular epithelial cells in kidney, was found to be defective tubulo-interstitial samples dissected out kidney biopsies from patients with chronic disease (CKD). Experimental data indicated that this decrease a strong determinant renal fibrogenesis, hence focus for therapeutic interventions. Nevertheless, whether persistently differentiated tubules, surviving pro-fibrotic environment, also suffer FAO, is currently unknown.To...
MicroRNAs (miRNAs) are small non-coding RNAs participating in post-transcriptional regulation of genes. Their key role modulating the susceptibility to human diseases is now widely recognized, particular context cardiometabolic disorders. The aim present study was identify miRNAs associated with diabetic nephropathy (DN) patients type 2 diabetes (T2D).A next-generation sequencing-based miRNA profiling performed a case-control for DN plasma samples 23 T2D (cases) and without (controls). main...
Individuals born with intrauterine growth retardation (IUGR) are more prone to cardio-metabolic diseases as adults, and environmental changes during the perinatal period have been identified potentially crucial factors. We studied in a preclinical model early-onset molecular alterations present before development of clinical phenotype.We used mouse induced IUGR, which we modulated nutrition pups suckling period, modify their susceptibility adulthood.Mice IUGR that were overfed (IUGR-O)...
The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and amyotrophic lateral sclerosis. variability age at onset phenotypic presentations a hallmark disease. In this study, we aimed to identify modifying factors disease carriers using family-based approach, pairs carrier relatives with concordant or discordant onset. Linkage association analyses provided converging evidence for locus on chromosome Xq27.3. minor allele A rs1009776 was associated an earlier...
Abstract BACKGROUND Glioblastomas (GBMs) with the FGFR3-TACC3 (F3T3) gene fusion have histological, molecular, metabolic, and clinicoradiological characteristics. They a better prognosis compared to other GBMs. Recent findings suggest that methylome profiling could further stratify these patients identifying subgroup (defined as “outlier” F3T3+ GBMs, or GBM-F3T3-O) methylation profile resembling gangliogliomas (GGs), low-grade histological appearance, outcome. MATERIAL AND METHODS We...
Abstract Malaria is caused by protozoan parasites of the genus Plasmodium and remains a global health concern. The parasite has highly adaptable life cycle comprising successive rounds asexual replication in vertebrate host sexual maturation mosquito vector Anopheles . Genetic manipulation been instrumental for deciphering function genes. Conventional reverse genetic tools cannot be used to study essential genes blood stages, thereby necessitating development conditional strategies. Among...
Abstract INTRODUCTION The taxonomy of primary CNS tumors is evolving. DNA methylation profiling led to the identification HPAP (high-grade glioma with pleomorphic and pseudopapillary features), a proposed tumor entity variable morphology, recurrent MAP-kinase pathway activating events, longer survival compared glioblastoma. Our goal independently validate further characterize this entity. METHODS In multi-institutional study, we retrieved prospective retrospective cases histological...
ABSTRACT More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite major achievements, comprehensive characterization short tandem repeats pathological context remains challenging, primarily due to their inherent characteristics such as motif complexity, high GC content, and variable length. In this study, our aim was thoroughly characterize expansions two neuromuscular diseases: myotonic...
Mesial Temporal Lobe Epilepsy-associated Hippocampal Sclerosis (MTLE-HS) is a syndrome associated with various aetiologies. We previously identified CD34-positive extravascular stellate cells (CD34+ cells) possibly related to BRAFV600E oncogenic variant in subset of MTLE-HS. aimed identify the variants and characterise CD34+ cells.We analysed by digital droplet Polymerase Chain Reaction 53 MTLE-HS samples (25 nine non-expansive neocortical lesions resected during epilepsy surgery (five...