A5063415951- Reproductive System and Pregnancy
- Malaria Research and Control
- Neurofibromatosis and Schwannoma Cases
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Epigenetics and DNA Methylation
- Reproductive Physiology in Livestock
- Complement system in diseases
- Metabolomics and Mass Spectrometry Studies
- Pharmacogenetics and Drug Metabolism
- Sarcoma Diagnosis and Treatment
- Blood Coagulation and Thrombosis Mechanisms
- Soft tissue tumor case studies
- HIV Research and Treatment
- Forensic and Genetic Research
- Trypanosoma species research and implications
- RNA modifications and cancer
- Research on Leishmaniasis Studies
- Carcinogens and Genotoxicity Assessment
- Genetic Associations and Epidemiology
- Autoimmune and Inflammatory Disorders Research
- Immunotherapy and Immune Responses
- Inflammasome and immune disorders
- Mosquito-borne diseases and control
- interferon and immune responses
Université Paris Cité
2015-2025
Mère et Enfant en Milieu Tropical
2015-2024
Institut de recherche mathématique de Rennes
2024
Institut de Recherche pour le Développement
2014-2023
Laboratory of Excellence GR-Ex
2022
Délégation Paris 5
2011-2020
Sorbonne Paris Cité
2011-2019
Descartes (Belgium)
2018
American University of Beirut Medical Center
2006-2013
Institut de Recherche pour le Développement
2013
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number flanking genes. Two recurrent microdeletion types are found in most cases, with breakpoints located paralogous regions (proximal NF1-REP-a distal NF1-REP–c for 1.4 Mb type-1 microdeletion, SUZ12 SUZ12P 1.2 type-2 microdeletion). A more severe phenotype is usually associated patients than those intragenic mutations. We characterized 70 unrelated...
The gold standard treatment of chronic hepatitis C (CHC) is combined pegylated interferon and ribavirin. Considering side effects cost, prediction response before therapy important. aim this study was to identify a liver gene signature predict sustained virological in patients with CHC.Group A (training set) comprised 40 CHC including 14 non-responders (NRs) 26 responders (SVRs). Group B (validation 29 9 NRs 20 SVRs. Eleven responder-relapsers were also included. total 58 genes associated...
Neurofibromatosis type 1 (NF1) affects about one in 3,500 people all ethnic groups. Most NF1 patients have private loss-of-function mutations scattered along the gene. Here, we present an original investigation strategy and report a comprehensive mutation analysis of 565 unrelated from NF-France Network. A was identified 546 patients, giving detection rate 97%. The combined cDNA/DNA approach showed that significant proportion missense (30%) were deleterious by affecting pre-mRNA splicing....
Arylamine N-acetyltransferase 2 (NAT2) is involved in human physiological responses to a variety of xenobiotic compounds, including common therapeutic drugs and exogenous chemicals present the diet environment. Many questions remain about evolutionary mechanisms that have led high prevalence slow acetylators species. Evidence from recent surveys NAT2 gene variation suggests slow-causing variants might become targets positive selection as consequence shift modes subsistence lifestyle...
The N-acetyltransferase 2 (NAT2) gene plays a crucial role in the metabolism of many drugs and xenobiotics. As it represents likely target population-specific selection pressures, we fully sequenced NAT2 coding region 97 Mandenka individuals from Senegal, compared these sequences to extant data on other African populations. were further included worldwide dataset composed 41 published population samples (6,727 individuals) four continental regions that adequately genotyped for all common...
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity NF1, we examined correlations between affected relatives 750 NF1 patients from 275 multiplex families collected through NF-France Network. Twelve NF1-related clinical features, including five quantitative traits (number café-au-lait spots small size large size, number...
Human Leucocyte Antigen G (HLA-G) belongs to the family of nonclassical HLA class I genes, located within major histocompatibility complex (MHC). HLA-G has been target most recent research regarding function genes. The main features that distinguish from classical genes are: a) limited protein variability; b) alternative splicing generating several membrane bound and soluble isoforms; c) short cytoplasmic tail; d) modulation immune response (immune tolerance); e) restricted expression...
<h3>Objective:</h3> Germline loss-of-function mutations in the <i>SPRED1</i> gene have recently been identified patients fulfilling National Institutes of Health (NIH) diagnostic criteria for neurofibromatosis type 1 (NF1) but with no <i>NF1</i> (neurofibromin 1) mutation found, suggesting a 1-like syndrome. <h3>Methods:</h3> 61 index cases NF1 clinical diagnosis identifiable were screened mutation. <h3>Results:</h3> We describe one known (c.190C>T leading to p.Arg64Stop) and four novel...
Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome with worldwide birth incidence of one in 2500. Genetic factors unrelated to the NF1 locus are thought influence number plexiform neurofibromas (PNFs) patients NF1, but no have been identified date. We used high-resolution array comparative genomic hybridization tissue from 22 PNFs obtained 18 identify modifier genes involved PNF development. family-based association test for five previously cancer-susceptibility tag...
Variability in the age of onset and number tumors is occasionally described among retinoblastoma patients, possible genetic modifiers might lie pRB or p53 pathways, both which are involved development retinoblastoma. MDM2, increases catabolism, therefore a prominent candidate. The minor allele MDM2 that includes 309T>G transversion (single-nucleotide polymorphism rs2279744) promoter known to enhance expression. Its transmission was studied 326 individuals including 212 RB1 mutation carriers...
Abstract Numerous mutations in the Plasmodium falciparum Kelch13 (K13) protein confer resistance to artemisinin derivatives, current front-line antimalarial drugs. K13 is an essential that contains BTB and Kelch-repeat propeller (KREP) domains usually found E3 ubiquitin ligase complexes target substrate protein(s) for ubiquitin-dependent degradation. thought bind proteins, but its functional/interaction sites structural alterations associated with remain unknown. Here, we screened most...
Abstract Several studies showed that surnames are good markers to infer patrilineal genetic structures of populations, both on regional and microregional scales. As a case study, the spatial patterns 9,929 most common Netherlands were analyzed by clustering method called self‐organizing maps (SOMs). The resulting clusters grouped with similar geographic distribution origin. analysis was shown be in agreement already known features Dutch surnames, such as 1) some well‐known locative suffixes,...
The arylamine N-acetyltransferases (NATs) are a unique family of enzymes widely distributed in nature that play crucial role the detoxification aromatic amine xenobiotics. Considering temporal changes levels and toxicity environmentally available chemicals, metabolic function NATs is likely to be under adaptive evolution broaden or change substrate specificity over time, making promising subject for evolutionary analyses. In this study, we trace molecular history NAT gene during last ~450...
The human leukocyte antigen-E (HLA-E) locus is a major histocompatibility complex (MHC) gene associated with immune-modulation and suppression of the immune response by interaction specific natural killer (NK) T cell receptors (TCRs). It considered one most conserved genes MHC; however, this low nucleotide variability seems to be consequence scarce number studies focusing on subject. In manuscript we assessed at HLA-E coding 3' untranslated regions (3'UTRs) in Brazil populations from...
Abstract Background Dietary changes associated to shifts in subsistence strategies during human evolution may have induced new selective pressures on phenotypes, as currently held for lactase persistence. Similar hypotheses exist arylamine N-acetyltransferase 2 (NAT2) mediated acetylation capacity, a well-known pharmacogenetic trait with wide inter-individual variation explained by polymorphisms the NAT2 gene. The environmental causative factor (if any) driving its is yet unknown, but...
Complete deletion of the