Marie Legendre
A5045033593- Neonatal Respiratory Health Research
- Cystic Fibrosis Research Advances
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Genetic and Kidney Cyst Diseases
- Growth Hormone and Insulin-like Growth Factors
- Archaeology and Historical Studies
- Inflammasome and immune disorders
- Medical Imaging and Pathology Studies
- Congenital Diaphragmatic Hernia Studies
- interferon and immune responses
- Ancient Egypt and Archaeology
- Tracheal and airway disorders
- Protist diversity and phylogeny
- Islamic Studies and History
- Genetic Syndromes and Imprinting
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Historical and Linguistic Studies
- Neurogenetic and Muscular Disorders Research
- Sexual Differentiation and Disorders
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Sperm and Testicular Function
- IL-33, ST2, and ILC Pathways
- Pulmonary Hypertension Research and Treatments
Inserm
2016-2025
Sorbonne Université
2016-2025
Hôpital Armand-Trousseau
2016-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
Maladies génétiques d’expression pédiatrique
2016-2025
Expression Génétique Microbienne
2009-2024
ERN GUARD-Heart
2024
Université Paris Cité
1976-2024
University of Edinburgh
2023
Hôpital d'Enfants
2018-2023
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the remains difficult despite array sophisticated diagnostic There no "gold standard" reference test. Hence, a Task Force supported by European Respiratory Society has developed this guideline to provide evidence-based recommendations on testing, especially in light new developments such tests, need for robust diagnoses patients who might enter randomised...
Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function STING, key adaptor of IFN signaling. Recently, increased levels IFN-stimulated genes (ISGs) were described COPA syndrome. However, the link between and signaling is unknown. We observed elevated ISGs IFN-α blood symptomatic patients. In vitro, both overexpression mutant silencing induced STING-dependent detected an interaction...
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct form cell type– and context-specific microtubule structures is poorly understood. Based on a cohort 12 patients with primary ciliary dyskinesia as well mouse mutants, we identified characterized variants TUBB4B isotype that specifically perturbed centriole cilium biogenesis. Distinct differentially affected dynamics cilia formation...
Abstract By moving essential body fluids and molecules, motile cilia flagella govern respiratory mucociliary clearance, laterality determination the transport of gametes cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly dynein arm motors into axonemes. Before their import flagella, multi-subunit axonemal arms are thought to be stabilized pre-assembled in cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin HSP90...
Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung parenchyma disorders with high morbidity and mortality, which can occur at all ages. In adults, the most common form IIPs, idiopathic pulmonary fibrosis (IPF), has been associated an increased frequency cancer. The molecular basis IIPs remains unknown in cases. This study investigates IIP pathophysiology 12 families affected by IPF We identified, multigenerational family, nine members carrying heterozygous...
Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype relationships have mostly arisen from small case series because existing statistical approaches to investigating been unsuitable for rare diseases.We applied topological data analysis (TDA) approach investigate PCD. Data separate training and validation cohorts included 396 genetically defined individuals carrying pathogenic variants To...
Severe acute respiratory syndrome (SARS) runs a more benign course in children during the phase. Infants born to mothers with disease did not acquire infection through vertical transmission. The treatment strategy for SARS has been standardised and is based on adult experience. Thus far, no deaths have reported paediatric age group. Exercise impairment residual radiological abnormalities were present six months after diagnosis. It important assess these patients regular basis detect provide...
Background CCDC39 and CCDC40 genes have recently been implicated in primary ciliary dyskinesia (PCD) with inner dynein arm (IDA) defects axonemal disorganisation; their contribution to the disease is, however, unknown. Aiming delineate CCDC39/CCDC40 mutation spectrum associated phenotypes, this study screened a large cohort of patients IDA defects, whom clinical phenotypes were accurately described. Methods All exons intronic boundaries sequenced 43 from 40 unrelated families. The recorded...
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of and serositis, common in populations Armenian, Arab, Sephardic Jewish Turkish origin. Early diagnosis crucial to start colchicine therapy that prevents the occurrence renal amyloidosis. In absence functional test for FMF, remains clinical generally confirmed molecular analysis MEFV gene. More than 40 missense mutations two in-frame deletions have been reported, most them being located...
Context: Both GH releasing- and orexigenic properties of the gut-to-brain hormone ghrelin are mediated by secretagogue receptor (GHSR). Recently in several patients, a missense mutation (p.A204E) resulting complete loss GHSR constitutive activity has been implicated short stature with dominant transmission.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic respiratory infections of the upper and lower airways, hypofertility, and, in approximately half cases, situs inversus. This complex phenotype results from defects motile cilia sperm flagella. Among numerous genes involved PCD, very few—including CCDC39 CCDC40—carry mutations that lead to a disorganization axonemes with microtubule misalignment. Focusing on this particular phenotype, we identified...
To date, no study precisely described ear, nose and throat (ENT) disease in adults with primary ciliary dyskinesia (PCD) its relationship function/ultrastructure. A retrospective of standardized ENT data (exam, audiogram, sinus Computed tomography (CT), bacteriology) was conducted 64 confirmed PCD who were followed two reference centers. Rhinorrhoea hearing loss the main symptoms. Symptom scores higher older patients. Nasal endoscopy abnormal all patients except one, showing nasal polyps...