A5062413603- Epigenetics and DNA Methylation
- Mast cells and histamine
- Genomics and Chromatin Dynamics
- Cancer-related molecular mechanisms research
- Protein Degradation and Inhibitors
- Acute Myeloid Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Cancer Genomics and Diagnostics
- TGF-β signaling in diseases
- Cancer, Hypoxia, and Metabolism
- melanin and skin pigmentation
- Cancer Cells and Metastasis
- Polyamine Metabolism and Applications
- Erythrocyte Function and Pathophysiology
- Sarcoma Diagnosis and Treatment
- Urticaria and Related Conditions
- Cancer-related Molecular Pathways
- RNA modifications and cancer
- Eosinophilic Disorders and Syndromes
- RNA Research and Splicing
- Receptor Mechanisms and Signaling
- Cancer-related gene regulation
- Food Allergy and Anaphylaxis Research
- Developmental Biology and Gene Regulation
- Asthma and respiratory diseases
Inserm
2006-2025
Centre de Recherche en Cancérologie de Marseille
2013-2025
Centre National de la Recherche Scientifique
2014-2025
Aix-Marseille Université
2013-2025
Association Francaise contre les Myopathies
2023-2024
Institut Paoli-Calmettes
2014-2020
Laboratory of Molecular Genetics
2013-2020
Institut Pprime
2014-2019
Cornell University
2009-2014
Oncogenesis Stress Signaling
2014
Tissue specific patterns of methylated cytosine residues vary with age, can be altered by environmental factors, and are often abnormal in human disease yet the cellular consequences DNA methylation incompletely understood. Although bodies highly expressed genes extensively plants, relationship between intragenic expression is less clear mammalian cells. We performed genome-wide analyses gene to determine how pattern correlates transcription assess exonic intronic portions body. found that...
We explored diverse alterations contributing to liposarcomagenesis by sequencing the genome, exome, transcriptome, and cytosine methylome of a primary recurrent dedifferentiated liposarcoma (DLPS) from distinct chemotherapy/radiotherapy-naïve patients. The genomes had complex structural rearrangements, but in different patterns, with varied effects on structure expression affected genes. While point mutation rate was modest, integrative analyses additional screening identified somatic...
Retinoic acid (RA) regulates clustered Hox gene expression during embryogenesis and is required to establish the anterior-posterior body plan. Using mutant embryonic stem cell lines deficient in RA receptor γ (RARγ) or Hoxa1 3'-RA-responsive element, we studied kinetics of transcriptional epigenomic patterning responses RA. RARγ essential for RA-induced activation, deletion its binding site enhancer attenuates activation both Hoxa Hoxb clusters. The reorganization demonstrate that complete...
Myelosuppression is a life-threatening complication of antineoplastic therapy, but treatment restricted to few cytokines with unilineage hematopoietic activity. Although stem cells (HSCs) are predominantly quiescent during homeostasis, they rapidly recruited into cell cycle by stresses, including myelosuppressive chemotherapy. Factors that induce HSCs proliferate stress have been characterized, it not known how HSC quiescence then reestablished. In this study, we show TGFβ signaling...
We have utilized retinoic acid receptor γ knockout (RARγ−/−) embryonic stem (ES) cells as a model system to analyze RARγ mediated transcriptional regulation of cell differentiation. Most the transcripts regulated by all-trans (RA) in ES are dependent upon functional signaling. Notably, many these RA-RARγ target genes implicated retinoid uptake and metabolism. For instance, Lrat (lecithin∶retinol acyltransferase), Stra6 (stimulated 6), Crabp2 (cellular binding protein 2), Cyp26a1 (cytochrome...
Mastocytosis is a rare and chronic disease with phenotypes ranging from indolent to severe. Prognosis for this variable very few biomarkers predict evolution or outcome are currently known. We have performed comprehensive screening in our large cohort of mastocytosis patients mutations previously found other myeloid diseases that could serve as prognostic indicators. KIT, SRSF2-P95 TET2 were by far the most frequent, detected 81%, 24% 21% patients, respectively. Where mutation both...
The Mre11 complex (Mre11, Rad50, and Nbs1) is a central component of the DNA damage response (DDR), governing both double-strand break repair DDR signaling. Rad50 contains highly conserved Zn 2+ -dependent homodimerization interface, hook domain. Mutations that inactivate domain produce null phenotype. In this study, we analyzed mutants with reduced function in an effort to stratify hook-dependent functions. One these alleles, 46 , conferred affinity dimerization efficiency. Homozygous 46/46...
BackgroundMastocytosis and monoclonal mast cell (MC) activation syndrome (MMAS) are heterogeneous conditions characterized by the accumulation of atypical MCs. Despite recurrent involvement KIT mutations, pathophysiologic origin mastocytosis MMAS is unclear. Although hereditary α-tryptasemia (HαT, related to TPSAB1 gene duplication) abnormally frequent in these diseases, it not known whether association coincidental or causal.ObjectiveWe evaluated prevalence HαT all subtypes assessed with...
Not available.
Peptidylglycine alpha-amidating monooxygenase (PAM; EC 1.14.17.3) catalyzes the COOH-terminal alpha-amidation of peptidylglycine substrates, yielding amidated products. We have previously reported a putative regulatory RNA binding protein (PAM mRNA-BP) that binds specifically to 3' untranslated region (UTR) PAM-mRNA. Here, PAM mRNA-BP was isolated and revealed be La using affinity purification onto UTR RNA, followed by tandem mass spectrometry identification. determined core sequence is...
Abstract Background and Aims Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology SM has been marginally described accurate histological classification critical, given consequences aggressive diagnosis. We aimed to describe features associated with liver using updated tools. Methods Using database French Reference Centre for Mastocytosis, we retrospectively identified patients a biopsy (LB) diagnosis SM. All LB procedures...
Abstract Advanced systemic mastocytosis (AdvSM) encompasses heterogeneous subtypes and is associated with poor outcomes. Although midostaurin was the first tyrosine kinase inhibitor to be approved for AdvSM patients, long‐lasting responses are limited. The mutation‐Adjusted Risk Score (MARS), International Prognostic Scoring System (IPSM) Global Systemic Mastocytosis (GPSM) have been established characterize outcomes of patients overall AdvSM. However, given outcome's dependency on subtype,...