A5114549609- Dermatological and Skeletal Disorders
- Skin and Cellular Biology Research
- Heterotopic Ossification and Related Conditions
- Inflammatory Myopathies and Dermatomyositis
- Autoimmune Bullous Skin Diseases
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Cellular Mechanics and Interactions
- Connective tissue disorders research
- Dupuytren's Contracture and Treatments
- Caveolin-1 and cellular processes
- Cancer and Skin Lesions
- Genetic and rare skin diseases.
- Mast cells and histamine
- Hereditary Neurological Disorders
- Parathyroid Disorders and Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Health, Medicine and Society
- Spectroscopy Techniques in Biomedical and Chemical Research
- Antimicrobial agents and applications
- Nonmelanoma Skin Cancer Studies
- Chemotherapy-related skin toxicity
- Kidney Stones and Urolithiasis Treatments
- Nail Diseases and Treatments
- Protein Tyrosine Phosphatases
- Hypertrophic osteoarthropathy and related conditions
Centre Hospitalier Universitaire d'Angers
2014-2025
Université d'Angers
2015-2024
Inserm
2014-2024
Centre National de la Recherche Scientifique
2014-2024
Université Bretagne Loire
2017-2021
Mitochondrial and Cardiovascular Physiopathology
2019
CHU Dijon Bourgogne
2012-2017
Agroécologie
2017
Université Nantes Angers Le Mans
2013-2015
Nantes Université
2015
Ectopic calcification in PXE integrates both local and systemic perturbations of extracellular ATP metabolism can be attenuated with a TNAP inhibitor.
Vascular calcification is a complex and dynamic process occurring in various physiological conditions such as aging exercise or acquired metabolic disorders like diabetes chronic renal insufficiency. Arterial calcifications are also observed several genetic diseases revealing the important role of unbalanced defective anti- pro-calcifying factors. Pseudoxanthoma elasticum (PXE) an inherited disease (OMIM 264800) characterized by elastic fiber fragmentation soft conjunctive tissues including...
Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most the tegument. Epidemiology remains poorly described. This study aims to evaluate prevalence inherited ichthyosis (excluding very mild forms) its different clinical forms in France. Capture – recapture method was used for this study. According statistical requirements, 3 lists (reference/competence centres, French association patients with internet...
Abnormal mineralization occurs in the context of several common conditions, including advanced age, diabetes, hypercholesterolemia, chronic renal failure, and certain genetic conditions. Metabolic, mechanical, infectious, inflammatory injuries promote ectopic through overlapping yet distinct molecular mechanisms initiation progression. The ABCC6 protein is an ATP-dependent transporter primarily found plasma membrane hepatocytes. exports unknown substrates from liver presumably for systemic...
Background Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects skin, retina, arteries. However, many patients with experience kidney stones. We determined prevalence of this pathology examined possible underlying mechanisms murine models. Methods conducted retrospective study large cohort analyzed urine samples kidneys from Abcc6 −/− mice at...
Pseudoxanthoma elasticum (PXE) affects the skin, retina and cardiovascular system. Most cases are related to mutations in ABCC6 gene. The diagnosis is most often made late second or third decade of life.To describe manifestations PXE before age 15 years.Children under years with definite were evaluated at a referral centre, as adult patients whom serious had occurred years.Our series included 96 patients; (16%) paediatric onset disease. Nine children diagnosed mean 10 years, 2.5 after...
Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by calcified elastic fibers in cutaneous, ocular, and vascular tissues. PXE caused mutations ABCC6, which encodes protein of the ATP-driven organic anion transporter family. The inability this to secrete its substrate into circulation likely cause PXE. Vitamin K plays role regulation mineralization processes as co-factor carboxylation calcification inhibitors such Matrix Gla Protein (MGP). precursor or conjugated form has...
Three biotherapies - etanercept, adalimumab and ustekinumab are licensed in childhood psoriasis. The few data available on their efficacy tolerance mainly derived from industry trials. However, biological drug survival impacts long-term performance real-life settings. objective of this study was to evaluate the rates therapies children with psoriasis conditions. Secondary objectives were factors associated choice therapy report severe adverse events. This an observational retrospective...
Abstract ABCC6 deficiency promotes ectopic calcification; however, circumstantial evidence suggested that may also influence atherosclerosis. The present study addressed the role of in atherosclerosis using Ldlr −/− mice and pseudoxanthoma elasticum (PXE) patients. Mice lacking Abcc6 genes were fed an atherogenic diet for 16 weeks before intimal calcification, aortic plaque formation lipoprotein profile evaluated. Cholesterol efflux expression several inflammation, cholesterol...
A localized form of epidermolysis bullosa simplex (EBS-l) is considered one the mildest forms (EB), with blisters limited to palms and soles. However, these lesions can be very painful. The aim study was characterize pain in patients EBS-l evaluate its impact on quality life (QoL). Patients were contacted via Research Group French Society Pediatric Dermatology association EB (DEBRA France). One investigator used a standardized questionnaire that included validated scales for QoL telephone...
Background and aims The contribution of arterial calcification (AC) in peripheral disease (PAD) wall compressibility is a matter debate. Pseudoxanthoma elasticum (PXE), an inherited metabolic due to ABCC6 gene mutations, combines elastic fiber fragmentation various soft tissues including the wall. Since AC associated with PAD, frequent complication PXE, we sought determine role PAD this group patients. Methods Results Arterial patency were determined by ankle-brachial pressure index (ABI)...
<h3>Objectives</h3> To illustrate a phenotypic overlap consisting of usual, but limited, or atypical manifestations pseudoxanthoma elasticum (PXE) between heterozygous carriers single<i>ABCC6</i>mutation and patients diagnosed with PXE, homozygous compound mutations. <h3>Design</h3> Evaluation for full typical, incomplete, mild, overlooked PXE during 5-year period (2001-2005) based on the following 1992 expert consensus conference items: (1) yellowish papular skin eruption, (2) dermal...
Background Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized mineralization and fragmentation of elastic fibers connective tissue. Cardiac complications reportedly associated with PXE are mainly based on case reports. Methods A cohort 67 patients was prospectively assessed. Patients underwent physical examination, electrocardiogram, transthoracic echocardiography, cardiac magnetic resonance imaging (CMR), treadmill testing,...