A5047452876- Liver Disease and Transplantation
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Liver physiology and pathology
- Organ Transplantation Techniques and Outcomes
- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Sarcoma Diagnosis and Treatment
- Pregnancy and preeclampsia studies
- Liver Disease Diagnosis and Treatment
- Tumors and Oncological Cases
- Infant Nutrition and Health
- Pediatric Hepatobiliary Diseases and Treatments
- Congenital Diaphragmatic Hernia Studies
- Renal and related cancers
- Genetic Syndromes and Imprinting
- Soft tissue tumor case studies
- Gastrointestinal Tumor Research and Treatment
- Trace Elements in Health
- Lipid metabolism and disorders
- Metabolism and Genetic Disorders
- Ovarian cancer diagnosis and treatment
- Muscle Physiology and Disorders
- Dermatological and Skeletal Disorders
- COVID-19 Impact on Reproduction
Hospices Civils de Lyon
2016-2025
Hôpital Femme Mère Enfant
2015-2025
Université Claude Bernard Lyon 1
2016-2025
Université Sorbonne Paris Nord
2024
Hôpital Edouard Herriot
2001-2022
Laboratoire CarMeN
2011-2021
Inserm
2002-2021
Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement
2021
Institut National des Sciences Appliquées de Lyon
2019
Centre de Recherche en Nutrition Humaine Rhône-Alpes
2019
Perinatal death is an increasingly important problem as the coronavirus disease 2019 (COVID-19) pandemic continues, but mechanism of has been unclear.To evaluate role placenta in causing stillbirth and neonatal following maternal infection with COVID-19 confirmed placental positivity for severe acute respiratory syndrome 2 (SARS-CoV-2).Case-based retrospective clinicopathologic analysis by a multinational group 44 perinatal specialists from 12 countries autopsy pathology findings 64...
A reduction of ADA2 activity due to autosomal recessive loss function mutations in CECR1 results a newly described vasculopathic phenotype reminiscent polyarteritis nodosa, with manifestations ranging from fatal systemic vasculitis multiple strokes children limited cutaneous disease middle-aged individuals. Evidence indicates that is essential for the endothelial integrity small vessels. However, not expressed, nor protein detectable, cultured human cells, thus implicating additional cell...
Abstract N 6 -threonyl-carbamoylation of adenosine 37 ANN-type tRNAs (t A) is a universal modification essential for translational accuracy and efficiency. The t A pathway uses two sequentially acting enzymes, YRDC OSGEP, the latter being subunit multiprotein KEOPS complex. We recently identified mutations in genes encoding four out five subunits children with Galloway-Mowat syndrome (GAMOS), clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-resistant...
An exome sequencing strategy employed to identify pathogenic variants in patients with pediatric-onset systemic lupus or Evans syndrome resulted the discovery of six novel monoallelic mutations PTPN2. PTPN2 is a phosphatase that acts as an essential negative regulator JAK/STAT pathways. All led loss regulatory function evidenced by vitro assays and hyperproliferation patients’ T cells. Furthermore, exhibited high serum levels inflammatory cytokines, mimicking profile observed individuals...
Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction the primary cilium, sensory organelle present at cell surface that regulates key signaling pathways during development and tissue homeostasis. In order identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetuses were analyzed by targeted high throughput sequencing approach allowing exome >1200 ciliary genes. NEK8/NPHP9 identified in five cases with overlapping...
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult dystrophies. The common clinical signs usually appear during second decade life but when first molecular dysregulations occur still unknown. Our aim was to determine whether can be identified FSHD fetal muscle development. We compared biopsies derived from FSHD1 fetuses and cells some these with control fetuses. mainly focus on DUX4 isoform expression because has been confirmed in both by several laboratories....
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified CLDN1 mutation, encoding tight-junction protein. However, for the majority of patients, molecular basis remains unknown. We biallelic missense mutations or in-frame deletion DCDC2 four affected children. Mutations involve highly conserved amino acids doublecortin domains In cholangiocytes, protein normally located...
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal disease can help strategize treatment options clinical preventive measures during the perinatal period, plan utero therapies, inform parental decision-making. Fetal phenotypes diseases often unique at present not well understood; more comprehensive knowledge about computational...
Partial liver grafts from ex situ splitting are considered marginal due to prolonged static cold storage. The use of hypothermic oxygenated perfusion (HOPE) may offer a strategy improve preservation split grafts. In this single-center pilot study, we prospectively performed during HOPE (HOPE-Split) for adult and pediatric partial over 1-year period (November 1, 2020 December 2021). primary safety endpoint was based on the number graft-related adverse events (LGRAEs) per recipient, including...
Objective: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune disease caused by mutations in the forkhead box protein 3 gene (FOXP3), which encodes a key regulator of immune tolerance. The aim this study was to describe clinical heterogeneity national French cohort. Methods: Multicenter retrospective patients diagnosed with IPEX FOXP3. Results: Thirty children from 26 families were included. Age at onset (median [first third quartile]) 1.5 mo...
Loss-of-function mutations of the protein kinase PERK (EIF2AK3) in humans and mice cause permanent neonatal diabetes severe proinsulin aggregation endoplasmic reticulum (ER), highlighting essential role insulin production pancreatic β cells. As is generally known as a translational regulator unfolded response (UPR), underlying these cell defects has often been attributed to derepression synthesis, resulting overload ER. Using high-resolution imaging standard fractionation immunological...
Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or mutations in the SMCHD1 gene, both which result aberrant expression transcription factor DUX4. However, it still difficult correlate these genotypes with phenotypes observed patients. Because we have recently shown that mice disrupted Fat1 functions exhibit FSHD-like phenotypes, investigated human FAT1 gene FSHD.We first analyzed FSHD adult muscles and determined whether was...
Regulatory Foxp3+CD4+ T cells [Tregs] have been implicated in the control of colitis T-cell transfer models, yet their ability to regulate induced by innate immunity and impact gut inflammation on fate function poorly documented. Colitis was dextran sodium sulphate DEREG transgenic mice. Tregs ablation experiments showd that could limit severity B6 Gut resulted increased number mesenteric lymph nodes [MLN] colon lamina propria [LP], although frequency decreased due massive concomitant...