A5021882209- Blood transfusion and management
- Blood groups and transfusion
- Platelet Disorders and Treatments
- Cerebrovascular and genetic disorders
- Cell Adhesion Molecules Research
- Moyamoya disease diagnosis and treatment
- T-cell and B-cell Immunology
- Blood donation and transfusion practices
- Genomics and Rare Diseases
- Connective tissue disorders research
- Cancer-related gene regulation
- Proteoglycans and glycosaminoglycans research
- Trauma, Hemostasis, Coagulopathy, Resuscitation
- Blood properties and coagulation
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Intracranial Aneurysms: Treatment and Complications
- Hepatitis B Virus Studies
- RNA regulation and disease
- Heparin-Induced Thrombocytopenia and Thrombosis
- Trypanosoma species research and implications
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Xenotransplantation and immune response
NeuroDiderot
2020-2025
Inserm
2019-2025
Université Paris Cité
2019-2025
Délégation Paris 7
2019-2024
Sorbonne Paris Cité
2019-2024
Washington Center
2023
University of Washington
2023
Hôpital Lariboisière
2023
Sorbonne Université
2023
Assistance Publique – Hôpitaux de Paris
2023
Abstract Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries formation collateral vessels. Altered genes play prominent role aetiology moyamoya but causative gene not identified majority cases. Exome sequencing data from 151 individuals 84 unsolved families were analysed identify further for then candidate assessed additional cases (150 probands). Two had same rare...
Biological response modifiers (BRMs), secreted by platelets (PLTs) during storage, play a role in adverse events (AEs) associated with transfusion. Moreover, mitochondrial DNA (mtDNA) levels PLT components (PCs) are AEs. In this study we explore whether there is correlation between pathogenic BRMs and mtDNA these markers can be considered predictors of transfusion pathology.We investigated series reported AEs after PC transfusion, combining clinical observations mathematical modeling...
Background and Purpose Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy outside of Asia. In Japanese patients, vast majority patients carry the founder p.R4810K variant in RNF213 gene, familial cases are around 10%. European data about occurrence limited. The aim this study was to characterize clinical molecular features several families with parent-to-child transmission MMA. Methods Out 126 MMA probands referred, we identified 113 sporadic 13 probands. Segregation analysis showed...
Importance Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening known CSVD genes. Objective To identify novel genes and mechanisms associated with CSVD. Design, Setting, Participants This 2-stage study involved linkage analysis a case-control study; whole exome genome sequencing were used to candidate gene variants in 2 large families (9 patients CSVD). Then, was conducted on 246 unrelated probands,...
ABSTRACT Objective Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. alloimmune thrombocytopenia pathogenic variations in COL4A1/A2 genes are well‐recognized causes of FICH. However, identified only 20% fetuses referred for FICH after excluding other known causes, leaving the majority unexplained making genetic counseling difficult. Our main aim was to identify novel associated with Method Exome sequencing performed on 113 unrelated (35 trios, 3 families...
BACKGROUND: A novel genetic cerebral small vessel disease, linked to the insertion of a mobile element in COL4A1 gene has recently been identified. Notably, 8 out 10 families carrying this mutation were known come from Brittany, specific region France, suggesting possibility common ancestor and founder effect. METHODS: Probands each analyzed with high-density SNP arrays. Bioinformatics tools used identify identical-by-descent chromosomal segments shared among probands. RESULTS: Two shown be...
Abstract Increased circulating soluble CD40 ligand (sCD40L) is commonly associated with inflammatory disorders. We aimed to investigate whether gene polymorphisms in CD40LG, and ITGA2 are a propensity secrete sCD40L; thus, we examined this issue at the level of human platelets, principal source sCD40L. performed single polymorphism haplotype analyses test for effect twelve across CD40LG , genes blood donors. presented positive association rs1126643, significant modification sCD40L secretion...
Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics not established a large series fetuses. Fetal neonatal alloimmune thrombocytopenia is major acquired ICH factor the inherited platelet disorder (IPD) gene variants leading to are unknown. Herein, we screened IPD fetuses.A cohort 194 consecutive fetuses were first for variants. We manually curated list 64 involved investigated them negative fetuses, using...
The CD40 ligand (CD40L/CD154), a member of TNF superfamily, is notably expressed on activated CD4+ T-cells and stimulated platelets. CD40L linked to variety pathologies acute transfusion reactions (ATR). Mutations in this gene (CD40LG) lead X-linked hyper-IgM syndrome. Some CD40LG polymorphisms are associated with variable protein expression. rationale behind study that has been observed be involved ATR. We wondered whether genetic implicated. investigated diversity the using DHPLC capillary...
The majority of patients with a familial cerebral small vessel disease (CSVD) referred for molecular screening do not show pathogenic variants in known genes. In this study, we aimed to identify novel CSVD causal genes.We performed gene-based collapsing test rare protein-truncating identified exome data 258 unrelated an ethnically matched control cohort and 2 publicly available large-scale databases, gnomAD TOPMed. Western blotting was used investigate the functional consequences variants....
BACKGROUND Platelet storage lesions are structural and biochemical changes in platelet concentrates (PCs), depend on variables collection processing, as well secondary procedures conditions; such can be mitigated by the use of additive solutions (PASs). STUDY DESIGN AND METHODS This study investigated release inflammatory markers sCD40L sCD62P single‐donor apheresis (SDA‐PCs) buffy coat–derived pooled (PPCs) before after storage. SDA‐PC PPC samples (n = 9089) processed various methods stored...
Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, other organ abnormalities. Mutations CTNS gene cause a deficiency protein, cystinosin. This study was performed to investigate mutations three Tunisian families with NC. Polymerase chain reaction (PCR), ARMS multiplex PCR direct sequencing were for molecular characterization 3 unrelated patients their parents. Based...
ABSTRACT The introduction of Next‐Generation Sequencing technologies in the clinics has improved rare disease diagnosis. Nonetheless, for very heterogeneous or diseases, more than half cases still lack molecular Novel strategies are needed to prioritize variants within a single individual. Population Sampling Probability (PSAP) method was developed meet this aim but only coding exome data. Here, we propose an extension PSAP non‐coding genome called PSAP‐genomic‐regions. In extension, instead...
Background The molecular anomalies causing moyamoya disease (MMD) and syndromes (MMS) are unknown in most patients. Objective This study aimed to identify de novo candidate copy number variants (CNVs) patients with moyamoya. Methods Rare CNVs screening was performed 13 angiopathy trios using whole exome sequencing (WES) reads depth data genome high density SNP array data. WES from an additional cohort of 115 unrelated probands were used search for recurrence these rare CNVs. Results Two...
To refine the clinical spectrum of a very recently identified phenotype associated with LAMB1 end-truncating pathogenic variations.Detailed clinical, neuropsychological, and MRI investigation 6 patients from 2 unrelated families segregating variations.All harbored variation. The specific association hippocampal type episodic memory dysfunction diffuse leukoencephalopathy was observed in all 4 aged older than 50 years, slightly worsening over time several years follow-up. Additional...
Alloimmunization is an undesirable iatrogenic effect of transfusion and transplantation. In fact, recipients can be considered as responders or not responders, in a continuum from tolerance, including organ transplantation transfusion, to polyimmunized refractory patients. New models large studies have enabled better understanding the mechanisms that induce specific alloantibody (alloAb) generation. Here, we focus on risk factors alloimmunization. We review characteristics, summarize...
Abstract Next‐generation sequencing technologies have opened up the possibility to sequence large samples of cases and controls test for association with rare variants. To limit cost increase sample sizes, data from could be used in multiple studies might thus generated on different platforms. This pose some problems comparability between due batch effects that confounding factors, leading false‐positive signals. ensure datasets, stringent quality are required. We propose an integrative...