A5013670748- RNA regulation and disease
- Axon Guidance and Neuronal Signaling
- Neurogenesis and neuroplasticity mechanisms
- Cystic Fibrosis Research Advances
- Pain Management and Opioid Use
- Corneal Surgery and Treatments
- Wnt/β-catenin signaling in development and cancer
- Pancreatitis Pathology and Treatment
- Angiogenesis and VEGF in Cancer
- Autoimmune and Inflammatory Disorders
- Caveolin-1 and cellular processes
- Cancer, Stress, Anesthesia, and Immune Response
- Alzheimer's disease research and treatments
- Ocular Surface and Contact Lens
- Gastrointestinal disorders and treatments
- Corneal surgery and disorders
- Immunodeficiency and Autoimmune Disorders
- Hereditary Neurological Disorders
- RNA and protein synthesis mechanisms
- Bone and Dental Protein Studies
- Congenital Anomalies and Fetal Surgery
- Tissue Engineering and Regenerative Medicine
- Pancreatic and Hepatic Oncology Research
- Glycosylation and Glycoproteins Research
- Neurological diseases and metabolism
Centre Hospitalier Universitaire de Clermont-Ferrand
2008-2024
Centre Hospitalier Universitaire de Nantes
2022-2023
Centre Hospitalier Universitaire de Bordeaux
2023
Université Clermont Auvergne
1999-2019
Laboratoire de Biochimie Théorique
2007-2019
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
Clermont Université
1996-2017
Inserm
1995-2008
Centre National de la Recherche Scientifique
2008
UMD-DMD France is a knowledgebase developed through multicenter academic effort to provide an up-to-date resource of curated information covering all identified mutations in patients with dystrophinopathy. The current release includes 2,411 entries consisting 2,084 independent mutational events 2,046 male and 38 expressing females, which corresponds estimated number 39 people per million genetic diagnosis dystrophinopathy France. Mutations consist 1,404 large deletions, 215 duplications, 465...
We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories France. analyzed 7,420 CF alleles, demonstrating a total 310 different mutations including 24 not reported previously, accounting for 93.56% genes. The most common were F508del (67.18%; range 61–80), G542X (2.86%; 1–6.7%), N1303K (2.10%; 0.75–4.6%), and 1717-1G>A (1.31%; 0–2.8%). Only 11 had relative frequencies >0.4%, 140 found on small number alleles (from 29 to two), 154 unique. These data...
ABSTRACT A number of cues are known to influence neuronal development including growth factors, cell-adhesion molecules, components the extracellular matrix and guidance molecules. In this study, we present molecular functional evidence that SCO-spondin, a novel relative thrombospondin family, could also be involved in development by modulating cell aggregative mechanisms. SCO-spondin corresponds glycoproteins secreted subcommissural organ (SCO), an ependymal differentiation vertebrate...
<h3>Background</h3> Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, called hereditary benign (HBID). Herein, we present a new form of corneal for which identified the causative gene by using deep sequencing technology. <h3>Methods and results</h3> A seven member Caucasian French family with two affected individuals (6-year-old proband his mother) was ascertained. presented bilateral complete...
In the developing vertebrate nervous system, several proteins of thrombospondin superfamily act on axonal pathfinding. By successive screening a SCO-cDNA library, we have characterized new member this superfamily, which call SCO-spondin. This extracellular matrix glycoprotein 4,560 amino acids is expressed and secreted early in development by subcommissural organ (SCO), an ependymal differentiation located roof Sylvian aqueduct. Furthermore, SCO-spondin makes part Reissner's fiber (RF),...
Molecular diagnosis and prenatal care of two pregnant women at risk transmitting immunodysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome.FOXP3 coding sequence exon boundaries were analyzed in the consultants family members. Non-invasive sex determination specific was realized.Following analysis a new FOXP3 mutation identified each consultant. Sex realized by amplification Y sequences from plasma mothers revealed male female fetus, respectively. Prenatal showed that...
Abstract Polycyclic aromatic hydrocarbons (PAHs) are a major source of air, water, and soil pollution. The multidrug resistance (mdr)/permeability glycoprotein (P‐gp) complex is implicated in the pattern developed against various drugs xenobiotics, including polycyclic hydrocarbons. In order to develop genomic biomarker, we investigated response mdr49 gene (mdr49) Drosophila melanogaster PAHs. Structural analysis mdr49‐PA, which putative protein expressed from mdr49gene, demonstrated that...
The influence of the genetic polymorphism enzymes and receptors involved in paracetamol metabolism mechanism action has not been investigated. This trial healthy volunteers investigated link between pain relief 23 receptors.This randomized double-blind crossover controlled pilot study took place Clinical Pharmacology Department, University Hospital, Clermont-Ferrand, France. Forty-seven Caucasian were recruited. consisted two sessions one week apart with oral or placebo, changes evaluated...
Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes. The overall risk that such fetus presents UPD has been previously estimated to be around ~0.6-0.8%. However, because are rare events and this estimate calculated from number of studies limited size, we have reevaluated the for whom one parents was known carry nonhomologous ROB...
Abstract Two brothers with a leukodystrophy, progressive spastic diplegia, and peripheral neuropathy were found to have proteinaceous aggregates in the nerve myelin sheath. The patients' mother had only subclinical neuropathy, but maternal grandmother adult‐onset leukodystrophy. Sequencing of proteolipid protein (PLP) gene showed point mutation IVS4 + 1 G→A within donor splice site intron 4. We identified one transcript deletion exon 4 (Δex4, 169bp) encoding for PLP DM20 proteins lacking two...
Summary Leucoencephalopathy with vanishing white matter (VWM) is caused by mutations in the genes encoding for one of five subunits that constitute eukaryotic initiation factor 2B (eIF2B), and characterized a highly suggestive MRI pattern indicating cerebral matter. Seizures are well known to occur VWM disease, but usually do not represent prominent feature. We report 40‐year‐old man who was diagnosed progressive myoclonus epilepsy his twenties. All major causes (PME) were excluded. Brain...