A5057330336- Cardiomyopathy and Myosin Studies
- Cardiac electrophysiology and arrhythmias
- Vascular Anomalies and Treatments
- Cardiovascular Effects of Exercise
- BRCA gene mutations in cancer
- Galectins and Cancer Biology
- Genomics and Rare Diseases
- Vascular Malformations Diagnosis and Treatment
- Renal and related cancers
- Cardiac pacing and defibrillation studies
- Vascular Malformations and Hemangiomas
- Genetics and Physical Performance
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Hedgehog Signaling Pathway Studies
- Lipid metabolism and disorders
- Studies on Chitinases and Chitosanases
- Genetic factors in colorectal cancer
- Acute Kidney Injury Research
- Cholesterol and Lipid Metabolism
- Genetic Neurodegenerative Diseases
- Abdominal vascular conditions and treatments
- Cardiac tumors and thrombi
- Tracheal and airway disorders
- Chronic Kidney Disease and Diabetes
- Renal and Vascular Pathologies
Hôpital Ambroise-Paré
2017-2025
Assistance Publique – Hôpitaux de Paris
2017-2024
Université de Versailles Saint-Quentin-en-Yvelines
2022
Laboratoire National de Référence
2021
Sorbonne Université
2015-2020
CHU Ambroise Paré
2020
Pitié-Salpêtrière Hospital
2020
Hudson Institute
2017
Université Paris Cité
2012-2015
Centre National de la Recherche Scientifique
2015
Agenesis of the corpus callosum (AgCC) is a frequent brain disorder found in over 80 human congenital syndromes including ciliopathies. Here, we report severe AgCC Ftm/Rpgrip1l knockout mouse, which provides valuable model for Meckel-Grüber syndrome. Rpgrip1l encodes protein ciliary transition zone, essential ciliogenesis several cell types mouse neuroepithelial cells developing forebrain. We show that Rpgrip1l(-/-) associated with disturbed location guidepost dorsomedial telencephalon. This...
Acute kidney injury (AKI) is a common and significant medical problem. Despite the kidney's remarkable regenerative capacity, mortality rate for AKI patients high. Thus, there remains need to better understand cellular mechanisms of nephron repair in order develop new strategies that would enhance intrinsic ability tissue regenerate. Here, using novel, laser ablation-based, zebrafish model AKI, we show collective migration epithelial cells primary early response acute injury. We also cell...
Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact result disclosure has been little studied. We evaluated psychosocial impacts PGT in using self-report questionnaires (including State-Trait Anxiety Inventory) 517 adults, administered three times prospective cohort (PCo: n = 264) and once retrospective (RCo: 253). The main motivations for undergoing were “to remove doubt” “for their children”. level anxiety increased...
Acute kidney injury is common and has a high mortality rate, no effective treatment exists other than supportive care. Using cell culture models, we previously demonstrated that exocyst Sec10 overexpression reduced damage to renal tubule cells speeded recovery the protective effect was mediated by higher basal levels of mitogen-activated protein kinase (MAPK) signaling. The exocyst, highly-conserved eight-protein complex, known for regulating trafficking. Here show biochemically interacts...
BACKGROUND: Few clinical data are available on NEXN mutation carriers, and the gene’s involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess prevalence of putative pathogenic variants describe phenotype prognosis patients carrying variants. METHODS: DNA samples from consecutive with cardiomyopathy cardiac death/sudden infant syndrome/idiopathic ventricular fibrillation sequenced a custom panel genes. Index cases at least one variant gene...
Background We report two cases of RASA1 -related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT). Methods and results A 28-year-old man, previously embolised for cerebral arteriovenous malformations (AVMs), presented with epistaxis typical nasal telangiectasias HHT. CT scan revealed a large portocaval shunt. The second patient was 9-year-old girl presenting cyanosis several mucocutaneous telangiectasias, similar to...
Splenic artery aneurysm (SAA) is a rare but potentially fatal condition. Rupture results in 25% mortality up to 75% pregnant women with 95% fetal mortality. Brief reports suggest an increased risk of developing SAA patients HHT.We analyzed enhanced multidetector CT data 186 HHT matched (gender and ± 5 year old) controls. We screened for recorded diameter splenic hepatic arteries hepatic, pancreatic parenchymal involvements. determined by univariate multivariate analysis, the relationship...
Abstract RASA1‐ related disease is a rare autosomal dominant characterized by capillary malformations, arteriovenous malformations (AVMs), and/or fistulas (AFVs). Penetrance nearly complete and vascular may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, stroke. Early diagnosis useful in order discuss optimal management, including AVMs/AVFs embolization or surgical procedures, try prevent some of the complications. In this context,...
Abstract Introduction Hereditary heart diseases are most often characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing is offered to asymptomatic relatives allow targeted medical care with early therapeutics in order reduce the risk of complications. Psychological issues socio-professional impact predictive complex have been poorly studied. The aim this study was evaluate psychological hereditary through a prospective retrospective study....