Autocrine/paracrine CXCL12/CXCR4-CXCR7 signaling within the bone marrow osteo-vascular niche: impact on lymphoid specification and commitment of hematopoietic stem cells (website)
BMP9 as a major regulator of vascular tone in Pulmonary Arterial Hypertension: a promising new therapeutic target (website)
Characterization of pre-EJC factors and their role in cell fate determination (website)
Contribution of the Vascular Smooth Muscle Cell-associated Type I cytokine receptors to Pulmonary Arterial Hypertension: At the interface between inflammation and pulmonary vascular remodeling (website)
Control of mitochondrial energy metabolism by the ubiquitin/proteasome system. (website)
Epidemiology of sleep complaints and cardiovascular disease in the community (website)
Exploiting genetic biomarkers of neurodegenerative diseases for developing early diagnostic tests and possible treatments (website)
Familial Mediterranean Fever (FMF) and FMF-like diseases: From genetics to functional diagnostic tests (website)
HUman-MAchines CooperatioN for flexIble production SysteMs (website)
In vivo AAV-based gene transfer to the muscle: Deciphering host immune responses (website)
Modeling and treatment of retinal dystophies with iPS cells (website)
Molecular dissection of PLA2R1-related membranous nephropathy: towards a portfolio of new clinical biomarkers (website)
NAD+ precursor supplementation for metabolic therapy of heart failure (website)
Pathological mechanisms underlying microcephaly Role of centrosomes and primary cilia in cerebral cortical development (website)
Pediatric and Adult Plasticity of Intestinal SMCs (website)
Programmed drug release by rolled-up biopolymer capsules. (website)
Regulation and function of gene dosage compensation on the X chromosome (website)
Regulation of NKCC2 and NCC by Protein–Protein interactions: From salt losing tubulopathies to salt sensitive hypertension (website)
Rescue Pathways for unrecycled ribosomes (website)
Restoring brain cholesterol metabolism : Development of clinical Gene therapy for Huntington’s disease (website)
Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy (website)
Role of C9ORF72 in Amyotrophic Lateral Sclerosis (website)
Role of epigenetic mechanisms in Huntington’s disease (website)
Role of Vasorin in the kidney, bone and arterial crosstalk. (website)
Study of mast cell involvment in autoinflammatory diseases. (website)
Synthetic biology to approach Friedreich ataxia (website)
Targeting Matriptase-2 to develop new therapeutic strategies for iron related disorders (website)
Tight junctions: from structure to treatment (website)
Translational optimization of AAV vectors to cure GSDIII (website)
Translational validation of neural organoid grafts for treating Parkinson’s and Huntington diseases (website)
Understanding cilia and flagella diversity (website)
Understanding the Mechanisms of Human Gonadal Development (website)
2016
Alterations of motor networks in primary dystonia (website)
An unexpected link between mitochondrial dynamics and the mevalonate pathway: a new pathophysiological mechanism in mitochondrial disease (website)
CHCHD10 mutations: how mitochondrial dysfunction leads to motor neuron disease (website)
Development of inhibitors of YAP-TEAD interaction for the treatment of non-small cell lung cancer (NSCLC) and pleural malignant mesothelioma (website)
Developmental mechanisms underlying human structural cerebellum defects (website)
Early asymmetry required for the alignment of cardiac chambers : development and pathology (website)
Elucidating molecular and cellular mechanisms underlying dyneinopathies (website)
French Regional Origins in Genetics for Health (website)
Functional characterization of ANKS6/ANKS3/BICC1 complex and implication in cystic kidney diseases (website)
Genetic and translational studies in patients with steroid sensitive nephrotic syndrome (website)
Genome Editing approaches to reactivate gamma-globin for the Treatment of ß-Hemoglobinopathies (website)
Human genetic dissection of Mendelian susceptibility to mycobacterial disease (website)
Implication of the golgi apparatus secretory functions in the developpement Of postnatal microcephaly and intellectual disabilities (website)
Interactions between TAU, FUS and TDP-43 in neurodegenerative diseases (website)
Mitral Valve Disease: From Genetics to Mechanisms and Improved CARE (website)
Modified MBNL gene therapy targeting nuclear expanded-CUG repeats to counteract toxic RNA gain-of-function in Myotonic Dystrophy (website)
Molecular characterization of the long-term onset of nephropathy and new treatments in glycogen storage diseases type 1 (website)
Molecular mechanisms of the pathological stabilization of the complement system C3 convertase and its therapeutic control (website)
Preclinical validation of a stem cell-derived retinal pigmented epithelium for treatment of retinal degenerative diseases (website)
PRRX (Paired Related Homeobox Protein)-1 as a novel and key transcription factor in lung fibrosis: in search for innovative targets. (website)
RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains (website)
Role of the Planar Cell Polarity (PCP) signaling in the dynamic organization of synapses and the integration of synaptic information: from basic mechanisms to patho-physiological consequences (website)
Small HSPs Inhibitors to Treat Idiopathic Pulmonary Fibrosis (website)
Stem cells for drug screening targeting splices (website)
Stimulation of Targeted Homologous Recombination for Gene Therapy (website)
TARGETING ACTIVATED MINERALOCORTICOID RECEPTOR IN PULMONARY ARTERIAL HYPERTENSION: A translational approach towards treatment (website)
TGF-Beta Signaling And Ineffective Erythropoiesis Of Beta-Thalassemia (website)
2015
DBA-MULTIGENES: identification and characterization of candidate genes to gain new mechanistic insight into Diamond-Blackfan anemia pathophysiology. (website)
Genetic susceptibility and biomarkers in listeriosis
Genetics and Pathophysiology of Primary Macronodular Hyperplasia Adrenocortical Hyperplasia (website)
Genomics Research for hereditary Erythrocytosis and related Diseases (website)
Heterogeneity and quiescence of muscle stem cells
HUMAn Neuromuscular Integrative System for drug discovery (website)
Identifying The Drivers Of Lung Resident Vascular Progenitors Recruitment Contributing To Pulmonary Arterial Hypertension Development (website)
IntraCranial ANeurysms: From familial forms to pathophysiological mechanisms (website)
KI mouse models and pathophysiology of cortical development malformations associated with dysfunction of tubulin and microtubule-interacting proteins
Mechanisms of LOCal control of ALDOsterone production in the adrenal gland and their relevance for the pathogenesis of primary aldosteronism (website)
Molecular and pathophysiological bases of congenital glycosylation diseases
Muscle stem cell quiescence and heterogeneity (website)
PAR2 signaling and associated therapeutic targets in inflammatory skin pathologies (website)
Pathophysiological Implication of Sumoylation in Intellectual Disability (website)
Pathophysiology Of The Costello Syndrome: Study In Mice And Cell Models (website)
Resistance to thyroid hormone due to TRa1 mutation: an emerging genetic disease (website)
Splice switching methods for the treatment of Pompe disease (website)
Study of genetic abnormalities unexplained erythrocytosis
The regulation of central respiratory drive by progestins alone or in combination with serotoninergic and orexinergic drugs, a therapeutic perspective for the treatment of central hypoventilations? (website)
Therapeutic innovations for liver diseases caused by defects in the biliary transporter ABCB4/MDR3 (website)
Treatment of Pompe disease by modulating splicing
Tricho-hepato-enteric syndrome : from abnormal RNA decay to disease (website)
Understanding the mechanisms of deafness by using intersectional genetics and functional analysis in the mouse (website)
2014
A genetic survey on sudden cardiac death (website)
A role for endocytic proteins in muscle mechanotransduction (website)
An innovative therapeutic strategy to treat residual sleepiness in narcolepsy (website)
Autoimmune mechanisms involved in narcolepsy with cataplexy (website)
Childhood invasive pneumococcal disease: toward the identification of novel primary immunodeficiencies (website)
Deciphering tuberculosis pathogenesis by identifying single-gene inborn errors of immunity in severe childhood forms of the disease (website)
Development, Microenvironment and genetic alterations in adrenal and bone lesions of Carney complex (website)
Dystrophins In The Nervous System: From Neurophysiology to Molecular Therapy (website)
Early epileptic encephalopathies caused by KCNQ2 mutations : from cellular physiology to therapeutic approaches (website)
FLY-SMALS: Common RNA-dependent pathways for motor-neuron degeneration in spinocerebellar muscular atrophy and amyotrophic lateral sclerosis (website)
From knowledge base of the pathogenic astrocyte-motoneuron communication in amyotrophic lateral sclerosis to therapeutic approaches (website)
Homeotic transformation of the jaw and central respiratory disorders in Auriculo-Condylar syndrome (website)
Huntingtin and the control of long distance transport of synaptic / extrasynaptic signals in health and disease (website)
In vivo proof of concept of molecules against hemolytic uremic syndrome (website)
Inborn errors of immunity to HSV-1 underlying childhood herpes simplex encephalitis: an exception or a rule? (website)
Molecular bases for the role of IFT172 in ciliogenesis and in ciliopathy (website)
NETCALS (Network of Cohort Assessment in ALS) (website)
NMDA receptors, Unexpected TargetS in pulmonary arterial hypertension (website)
Non-Atheromatous Aortopathies : From Genetics To New Pathophysiological And Therapeutic Concepts (website)
Postnatal development of the brain oxytocin system and Prader-Willi syndrome (website)
Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) (website)
Primary immunodeficiencies associated with susceptibility to Epstein Barr virus infection : studies from natural mutants to gene functions (website)
Protease-activated Receptor-2 and its agonist serine proteases in idiopathic pulmonary fibrosis (website)
RADiosensitizing nanoparticules for therapy against CHONDrosarcoma. A preclinical proof of concept. (website)
Role and mechanism of alpha-synuclein and ataxin-3 spreading in Parkinson and Machado-Joseph diseases (website)
Role of dynamin 2 in muscle under normal and pathological conditions (website)
Role of the striatal cholinergic system in the pathophysiology of dystonia : a translational study (website)
Study of the association of microRNA and mitochondria and their role in regulation of neuronal cell death in Fragile X Tremor Ataxia Syndrome (FXTAS) (website)
Systemic injection in the Golden Retriever Muscular Dystrophy dog of a recombinant adeno-associated virus encoding for the canine µdystrophin: Determination of the therapeutic dose that improves skeletal muscle function and cardiac performances (website)
Validation and optimization of new therapeutic compounds against Chagas disease (website)
Validation of molecular neuroimaging biomarkers in Huntington’s disease in view of therapeutic trials targeting the Krebs cycle (website)
2013
Consequences of DNA repair and telomere defects on the function of the Immune System: application to CVID and immune deficiencies with dysmorphic syndromes (website)
Cytotoxic Lymphocytes In Cutaneous Drug Allergy. Identification of severity biomarkers to improve prediction, prevention and therapy (website)
Epileptogenic Developmental Disorders: Integrated approach to improve diagnosis and understanding of pathophysiological mechanisms (website)
Genetic Investigation of Fibromuscular Dysplasia (website)
Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo (website)
Impact of malaria in early pregnancy on fetal growth in Benin (website)
K8/F508del-CFTR, a new target for corrector therapy in cystic fibrosis (website)
Molecular characterization of apparently balanced chromosomal rearrangements by next-generation sequencing in 55 patients with intellectual disability and/or multiple congenital anomalies (website)
Molecular mechanisms of Facio-Scapulo-Humeral Dystrophy: from the contribution of genomics to the mecanisitic exploration of new regulatory pathways for the 4q35 locus (website)
Neoglycoenzyme for lysosomal disease therapy (website)
Novel function of ATXN7 in cilia and impact on the SCA7 pathogenesis (website)
Role of Cyp46 in cholesterol metabolism and neuroprotection in Huntington’s Disease (website)
Role of HSP70 in normal and pathological erythropoiesis (website)
Shear stress-regulated interactions between von Willebrand factor and lipoprotein-receptor LRP1: basic aspects and pathophysiological consequences (website)
Study of familial myeloproliferative neoplasms : search for genetic abnormalities and their functions (website)
Therapeutic potential of AMPK activators for correction of mitochondrial fatty acid ß-oxidation disorders (website)
Toward immune Biomarkers for Tolerance and GvHD in Humans (website)
Validation of PRIMA-1MET and TALEN as a therapeutic tools for visual deficient EEC syndrome (website)
2012
Achondroplasia: Therapeutical approach with irreversible FGFR3-tyrosine kinase inhibitor (website)
Characterization of a New pathway of Blood Pressure regulation through Kidney Ion Transport (website)
Cochlear hair cell endoplasmic reticulum homeostasis and deafness (website)
Deciphering Critical Switches for Glomerular Demolition (website)
Drug repurposing for nonsense-mediated Cystic Fibrosis and Hemophilia (website)
Dysregulation of lipid metabolism on photoreceptor function and viability : The role of FATP genes in Drosophila and mice models (website)
Elucidation of function and role in retina pathophysiology of the G protein-coupled receptor GPR179 (website)
Fighting Friedreich’s Ataxia: combining multi-organisms screening and chemical optimization to generate new therapeutic molecules for FA (website)
Genetic components of podocyte differentiation and disease (website)
Identification and investigation of a gene involved in monogenic forms of Goldenhar syndrome (website)
Molecular bases and pathophysiology of hemophagocytic syndromes (website)
Molecular dissection of membranous nephropathy: Moves toward personalized therapy and monitoring (website)
New therapeutic strategy for Huntington’s disease (website)
Role of SPOCK2 in susceptibility of premature infants to bronchopulmonary dysplasia (website)
Role of very long chain fatty acids in muscle pathophysiology (website)
Understanding and treating neuronal trafficking defects in Mecp2-pathies(website)
2011
Copper chelators targeted at the liver: a innovative treatment of hepatic copper overload (website)
Epidemiology and physiopathology of delayed hemolytic transfusion reaction in sickle cell disease patients (website)
Establishment of innovative and proprietary methods for the manufacturing and quality control testing of a clinical grade gene therapy vector for the treatment of patients affected with a pigmented retinopathy secondary to a mutation in the pde6ß gene (website)
First study in France seraching a link between Amyotrophic Lateral Sclerosis and BMAA’s cyanotoxin (website)
Generation of mice with targeted mutation of the mitochondrial DNA (website)
Genetic basis of intellectual disability and other cognitive disorders (website)
Glycogen storage disease type 1a: from physiopathology to liver gene therapy (website)
Mechanisms of acquired and familial thrombocytosis (website)
Mesothelial cells and idiopathic pulmonary fibrosis (website)
Molecular basis of immune tolerance after gene transfer (website)
Molecular Deciphering Of Malignancy in Pheochromocytoma and Paranganglioma (website)
Pathological consequences of von Willebrand factor-platelet glycoprotein Ib interaction: type 2B von Willebrand disease as a study model (website)
Physiological Consequences of Fragile X Mental Retardation Protein Sumoylation (website)
Rfx6 in pancreatic and intestinal endocrine cell differentiation and function (website)
Structural characterization of protein states involved in Huntington’s disease by integrative approaches (website)
Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies (website)
Structure-properties relationship within highmolecular weight protein oligomeric species associated to Parkinson’s and Huntigton diseases (website)
The cortical mechanisms of associative learning and of its deficits in Fragile X syndrome (website)
The Na+/H+ exchangers of intracellular compartments. Biochemical and pharmacological characterization. Physiological roles and impact in neurological diseases (website)
2010
Diamond-Blackfan Anemia, a paradigm for ribosomal diseases (website)
Early abnormalities in a mouse model for myotonic dystrophy : a model for Congenital Myotonic Dystrophy ? (website)
Epigenetic, Genetic and Fetal Growth (EPIFEGRO) (website)
Generation of induced-pluripotent stem (iPS) cells from normal and retinitis pigmentosa patients for phenotype screening of photoreceptor differentiation and studying photoreceptor disease mechanisms (website)
Genetic determinism and functional and pharmacological evaluation of spinocerebellar degenerative disorders linked to lipid gene mutations (website)
Genetics and pathophysiology of macronodular adrenal hyperplasia (website)
Genetics of cortical dysgenesis (CD) and pathophysiology of Tubulin-related forms (TrCD) (website)
Genomic alteration of conserved non coding sequences in human malformation (website)
Implication and rescue of Tau mis-splicing in myotonique dystrophy (website)
Influence of the amount of mitochondrial DNA on energy metabolism: implications for mitochondrial diseases (website)
Kainate receptors in acute and chronic mouse models of epilepsy (website)
Metabolic management of neuronal hyperexcitability: a new approach to treat epilepsy (website)
Modeling and therapeutic approaches of liver inherited disorders with patient-specific iPS cells (website)
Molecular analysis of immunoglobulin class switch recombination through the study of his defects in humans (website)
Molecular and cellular mechanisms of Meckel/Joubert ciliopathy (website)
Molecular bases of CXCR4 dysfunctions in rare immunodeficiency disorders (website)
Neonatal Fc receptor-mediated tolerance induction in alloimmune and autoimmune conditions (website)
Pathophysiologic role of HDAC6 overexpression consecutive to a mutation abrogating a miRNA-mediated post-transcriptional regulation in a X-linked chondrodysplasia (website)
Phenotypical monotony and genetic diversity of non-atherosclerotic arterial disease (website)
Physiopathological mechanisms of episodic (EA2) and related progressive ataxia (website)
Pre-clinical assessment of pluripotent stem cell therapy for Huntington’s disease (website)
Role of AML1 in pathological hematopoiesis linked to the familial platelet disorder with a predisposition to acute myeloid leukaemia (FPD/AML) (website)
Role of Anks6 and its partners in kidney cystic disease (website)
Selective modulation of reactive astrocytes : In vivo monitoring by magnetic resonance and contribution to neuronal death in Huntington’s disease (website)
Thalidomide stimulates vessel maturation: new strategy to treat vascular malformations in Hereditary Hemorrhagic Telangiectasia (website)
The potassium-chloride transporter KCC2: a new target for the treatment of neurological diseases (website)
