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Valvular heart disease encompasses a number of common cardiovascular conditions that account for 10% to 20% of all cardiac surgical procedures in developed countries. Although not as common as coronary cardiac disease, heart failure or hypertension, valvular heart disease is an important and challen

La perte de coordination circadienne est de plus en plus associée à l'émergence de troubles métaboliques chez l'homme. Du point de vue expérimental, de très nombreux travaux démontrent que l'altération de l'horloge circadienne conduit à des troubles métaboliques sévères. A l'inverse, les perturbatio

More than 1,000,000 pacemakers have been implanted worldwide in 2009. Progressive Cardiac Conduction Disease (PCCD), also called Lenègre or Lev disease, represents the major cause of pacemaker implantation in developed countries. It is a slowly evolving lifespan disease that progressively affects ca

Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX, GRM6 and TRPM1, expressed by ON-bipolar cells, lead to a disruption of the ON-bipolar response. This dysfunction is present in patients with complete congenital stationary nig

The Solute carrier 26 (SLC26) family members are membrane anion exchangers that transport monovalent and/or divalent anions, including sulfate (SO42-), chloride (Cl-), iodide (I-), bicarbonate (HCO3-) and oxalate (Ox2-) ions. Their activity is essential to various physiological functions and differe

Friedreich ataxia is a rare but fatal neurodegenerative disease. There is on cure for the disease, and only compounds with limited effectiveness are administrated to the patients. We aim at taking advantage of our previous work, where chemical libraries were screened in model biological systems, to

The arterial wall is the target of plasma-borne components like LDL and proteolytic enzymes known to be involved in the evolution of the atherothrombotic disease. Vascular cells must be able to protect themselves from proteolytic injuries by producing antiproteases. Serine protease inhibitors (serpi

Thyroid hormone (T3) exerts a pleiotropic action on vertebrate development and homeostasis mainly by acting on two nuclear receptors: TRa1 and TRß1. The receptors are transcription factors of the nuclear hormone superfamily that exert a broad control on gene expression. TRa1 and TRß1 structures and

Deciphering molecular basis of holoprosencephaly Our research objective is to elucidate genetic and physiopathological mechanisms leading to holoprosencephaly (HPE), a remarkably common congenital anomaly characterized by failure to define the midline of the forebrain and midface. It is now curre

Mecp2-pathies represent an emerging field among severe X-linked mental retardation syndromes. Rett Syndrome (RTT) represents the prototype of these pathologies and accounts for 10% of the cases of profound intellectual disability in females. The causative gene is the methyl CpG-binding protein 2 (ME

Membranous nephropathy (MN) is the most common cause of nephrotic syndrome in Caucasian adults. It is considered as a model of organ-specific autoimmune disease which targets the kidney glomerulus, resulting in the formation of immune deposits on the outer aspect of the glomerular basement membrane

Transcription Intermediary Factor 1 gamma (TIF1g) is a transcription and elongation co-regulator interacting with Smads and displaying an E3 ubiquitin ligase activity. In zebrafish and human CD34+ cells, TIF1g links positive elongation factors and blood specific transcription complexes to regulate t

The mammalian kidney is a central cardiovascular organ that fulfils pleiotropic functions in the body including blood filtration, control of blood pressure, salt concentrations and pH. Renal diseases are on the rise and 1 out of 10 people is expected to develop some form of renal disorder during the

Three specific tasks: 1) Pericyte development and positioning 1-1) Demonstrate the large scale organisation of pituitary pericytes and their relationship with the GH-network and the vasculature. We investigate whether a close morphological relationship between endocrine cell networks and peri

Renal tubular calcium handling is a major determinant of urinary calcium excretion and plasma calcium concentration. This process is tightly regulated by a number of factors, including the extracellular calcium concentration itself via its action on the calcium-sensing receptor CaSR expressed in the

The treatment of Inflammatory Bowel Disease (IBD) represents a major medical challenge. IBD is a highly debilitating disease, which incidence is constantly growing in developed countries. The current therapies are costly, present severe side effects, and a number of patients are resistant to any for

Atrial fibrillation (AF) is the most common sustained arrhythmia. In France alone, AF affects 750000 people. AF results in a fivefold increase in the risk of stroke, and a threefold increase in the risk of heart failure with an increased hospitalization and mortality risk than otherwise. AF thus rep

Estimation of survival is used in many medical studies that aimed to estimate the prognostic of patient, the impact of some variables on the disease under study. More generally, estimation of survival is a valuable indicator of progress in disease control. For chronic diseases, more especially for c

Lipid sensing along the oro-intestinal tract: impact on eating behavior and obesity risk Obesity reaches epidemic levels in the world. By reason of deleterious effects of obesity-associated diseases (i.e. type 2 diabetes, vascular disorders, hypertension, cancer), it

Fibroblast Growth Factor Receptor 3 (FGFR3) belongs to a family of structurally tyrosine kinase related receptors. Various mutations in FGFR3 have been shown to result in the most frequent dwarfisms, hypochondroplasia (HCH) and achondroplasia (ACH) (1/ 10 000). FGFR3 mutations lead to the constituti

To date, there are 600 million obese individuals worldwide. In France, 14.5% of the adult population is classified as obese. The increase in the number of obese individuals has led to an explosion of type 2 diabetes and cardiovascular diseases. Insulin resistance constitutes a cornerstone of the met

Scientific rationale and hypothesis: Obstructive sleep apnea (OSA) is a worldwide public health problem, affecting at least 5% of the general population and characterized by repetitive upper airway occlusions during sleep leading to intermittent hypoxia (IH). Patients with OSA exhibit increased card

- To determine if the expression of the ß2 adrenergic receptor by regulatory T cells play a role in asthma. - To determine if the expression of the ß2 adrenergic receptor by airway epithelial cells play a role in asthma. - To determine if the expression of the ß2 adrenergic receptor by airway musc

Peripheral tolerance is an equilibrated system, a fine balance between pathogenic effector T cells (Teff) and regulatory T cells (Treg) aimed at controlling immune responses. Autoimmune diseases (AID) occur when this balance leans to autoreactive cells leading to the loss of tolerance towards one or

BETASKIN 2: Betaadrenergic cutaneous vascular remodelling Background: This project follows a first BiotechS ANR grant 2009 which aimed at developing a topical formulation of propranolol for the treatment of cutaneous hemangiomas, in partnership with Pierre Fabre Laboratories, Toulouse, France, fo

Rare syndromes offer unique opportunities to gain insight into central physiological processes. The characterization and understanding of the molecular and functional bases leading to the occurrence of Hemophagocytic Lymphohistiocytic (HLH) syndromes provide a way to approach critical mechanisms con

Inherited retinal degenerative diseases constitute a major cause of vision loss in humans. Retinitis pigmentosa and macular degeneration (MD) are the two main classes of retinal diseases. They are characterized by the loss of rod and cone photoreceptor (PR) cells leading to progressive blindness. Mo

Bone pathophysiology reveals a differential behaviour of jaw and long bones. This is illustrated by a recent Public Health concern: jaw osteonecrosis induced by anti-resorptive agents that are otherwise extremely efficient on long bones against osteoporosis and in oncology. Impaired long-term mainte

The molecular mechanisms underlying salt-sensitivity of blood pressure remain poorly understood in most patients. However, since monogenic forms of impaired blood pressure regulation are caused by defects in renal NaCl absorption in the distal nephron, essential hypertension is likely to be linked t

Reactive carbonyl compounds (RCCs) are formed during lipid peroxidation and carbohydrate glycoxidation and are precursors of advanced glycation end products (AGEs) and advanced lipid peroxidation end products (ALEs). AGEs and ALEs form cross-links on proteins (carbonyl stress) and are thought to co

Rapidly Progressive Glomerulonephritis (RPGN) is a class of acquired renal disease that remains one of few human autoimmune diseases representing an acute threat to survival. Focal necrotizing crescentic GN is the renal lesion typically associated with the clinical syndrome of RPGN and is a medical

Growth, homeostasis and regeneration of skeletal muscle mass depend on the presence of muscle stem cells, their ability to generate muscle fibres as well as the subsequent increase in muscle fibre size. Importantly, correct muscle function requires correct cellular composure of skeletal muscle durin

Large sets of data have been accumulated over the course of the last 5 years describing the important role of the lipopolysaccharides [(LPS)/CD14-TLR4] dyad in the control of the onset of metabolic diseases. A change to high-fat diet is associated with a change in intestinal human and animal microfl

Cohort studies are studies in which the same variables are measured repeatedly over time. Each sequence of measures, known as the variable-trajectory, reflects the evolution of a phenomenon. In recent years we have seen the development of new tools to analyse these trajectories. The most widely used

Objectives for the first 18 months were to: Determine the time course of the progression of diabetic nephropathy in the Ins2Akita/+Ldlr-/- mouse model in comparison to the Ins2Akita/+, Ldlr-/- and wild type mice. Optimize the extraction protocol for glomeruli extraction from kidney mouse and se

Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance, is a member of the transforming growth factor beta family synthesized by growing ovarian follicles and involved in the control of follicular development. AMH has been recognized as one of the best hormonal markers of the ovari

THE CURRENT PROPOSAL IS A BASIC RESEARCH PROJECT (For confidentiality reasons, the strategies, tools and specific tasks of the project will not be described in this public abstract; for reviewing purpose, please see the 3 confidential abstracts). Chronic inflammatory diseases (rheumatoid arthritis,

Pain is the most common symptom for which patients seek medical attention. According to the International Society of Pain (IASP) the prevalence of chronic pain is 18% of general population. In Europe, the pain just does not weigh on individuals and their families. Indeed, the social burden of chroni

Bronchopulmonary dysplasia (BPD) is the most common respiratory sequelae of prematurity, and is a source of significant respiratory morbidity. It corresponds to an arrested alveolar development. Understanding of the mechanisms of this disease has evolved considerably in recent years, with the emerge