A5048806582- Nuclear Structure and Function
- RNA Research and Splicing
- Lung Cancer Treatments and Mutations
- Pleural and Pulmonary Diseases
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genomics and Chromatin Dynamics
- Medical Imaging and Pathology Studies
- Genomics and Rare Diseases
- Lung Cancer Diagnosis and Treatment
- Lung Cancer Research Studies
- Skin and Cellular Biology Research
- Metabolism and Genetic Disorders
- Occupational and environmental lung diseases
- Ion channel regulation and function
- Sarcoma Diagnosis and Treatment
- Helicobacter pylori-related gastroenterology studies
- Diet and metabolism studies
- Retinoids in leukemia and cellular processes
- Glioma Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Lipid metabolism and biosynthesis
- Ubiquitin and proteasome pathways
Inserm
2015-2025
Aix-Marseille Université
2013-2025
Génétique Médicale & Génomique Fonctionelle
2008-2024
Hôpital de la Timone
2014-2024
Centre de Génétique Médicale de Marseille
2008-2024
Assistance Publique Hôpitaux de Marseille
2007-2019
Université Côte d'Azur
2013
European Neuroendocrine Tumor Society
2012
Universitätsklinikum Würzburg
2012
Institut de Neurobiologie de la Méditerranée
2008-2011
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder autosomal-dominant inheritance and high penetrance, but the causative genetic mutation unknown.We have now identified four truncating mutations involving gene PRRT2 in vast majority (24/25) of well-characterized families PKD/IC.PRRT2 were also detected 28 78 additional families.PRRT2 encodes a proline-rich transmembrane protein unknown function that has been reported to interact t-SNARE,...
The rolandic and sylvian fissures divide the human cerebral hemispheres adjacent areas participate in speech processing. relationship of (sylvian) seizure disorders with cognitive impairments is well known, albeit poorly understood. We have identified Xq22 gene SRPX2 as being responsible for seizures (RSs) associated oral dyspraxia mental retardation (MR). a secreted sushi-repeat containing protein expressed neurons adult brain, including area. disease-causing mutation (N327S) resulted...
Mutations in SRPX2 (Sushi-Repeat Protein, X-linked 2) cause rolandic epilepsy with speech impairment (RESDX syndrome) or altered development of the cortex (bilateral perisylvian polymicrogyria). The physiological roles remain unknown to date. One way infer function relies on identification as yet protein partners. Using a combination interactome approaches including yeast two-hybrid screening, co-immunoprecipitation experiments, cell surface binding and plasmon resonance (SPR), we show that...
It is a challenge to identify the molecular networks contributing neural basis of human speech. Mutations in transcription factor FOXP2 cause difficulties mastering fluent speech (developmental verbal dyspraxia, DVD), whereas mutations sushi-repeat protein SRPX2 lead epilepsy rolandic (sylvian) areas, with DVD or bilateral perisylvian polymicrogyria. Pathophysiological mechanisms driven by involve modified interaction plasminogen activator receptor (uPAR). Independent...
Human mesial temporal lobe epilepsies (MTLE) are the most frequent form of partial and display pharmacoresistance. The molecular alterations underlying human MTLE remain poorly understood. A two-step transcriptional analysis consisting in cDNA microarray experiments followed by quantitative RT-PCR validations was performed. Because entorhinal cortex (EC) plays an important role pathophysiology usually discloses no detectable or little cell loss, resected EC each corresponding lateral...
ABSTRACT Introduction Cellular characteristics of induced sputum (IS) are not investigated in cystic fibrosis (CF) patients. Objectives This pilot study, conducted on 17 expectorating CF adolescents, compared sputa obtained the same day, a stable period, by autogenic drainage (expectorating sputum, ES) and 4 h later after inhaling hypertonic saline (IS). Results No difference was noted concerning weight, volume, percentage dead cells between two collection methods. Sample quality (< 50%...
ABSTRACT Introduction The causes of cytopenias are numerous, and the bone marrow aspirate helps to identify them. In rare cases, these due metastases from solid cancers. techniques used in hematology laboratories limited characterizing cells. Interaction with cytopathology laboratory becomes critical for tumor cells completing a comprehensive diagnosis aspirate. Methods This article describes series 38 aspirates 36 patients bicytopenias who underwent aspiration whom hematologists sent sample...
Abstract Background This case report aims to describe the diagnostic method and clinical course of endophthalmitis caused by Enterococcus faecalis . Case presentation A 66-year-old man presented with sudden, severe pain acute vision loss in his left eye. Ocular examination revealed significant intraocular inflammation dense vitritis, suggesting endogenous endophthalmitis. Systemic evaluation identified colonic diverticulosis as a potential source infection. Pars plana vitrectomy was...
Abstract Background The X-linked SRPX2 gene encodes a Sushi Repeat-containing Protein of unknown function and is mutated in two disorders the Rolandic/Sylvian speech areas. Since it linked to defects functioning development brain areas for production, may thus have participated adaptive organization such regions. To address this issue, we examined recent molecular evolution gene. Results complete coding region was sequenced 24 human X chromosomes from worldwide populations six representative...
Constitutional laminopathies, such as the Dunnigan familial partial lipodystrophy, are severe diseases caused by mutations in A-type lamins and share several features with metabolic syndrome (MS). In this study, we hypothesized that MS may be, some cases, a mild form of laminopathies use abnormal cell nucleus phenotype observed these primary screening test patients suffering from common MS. Nuclear shape lamin A nucleoplasmic distribution abnormalities were systematically searched...
// Elisa Roca 1, 2, 3 , Romaric Lacroix 4 Coralie Judicone 5 Sophie Laroumagne 2 Stéphane Robert 1 Sylvie Cointe Alexandre Muller Elise Kaspi 6, 7 Patrice Roll Alain R. Brisson 8 Claudio Tantucci Philippe Astoul 9, * Françoise Dignat-George 4, VRCM, UMR-S1076, Aix-Marseille Université, INSERM, Faculté de Pharmacie, Marseille, France Division of Thoracic Oncology, Pleural Diseases, and Interventional Pulmonology, Hôpital Nord, AP-HM, Cattedra di Malattie dell'Apparato Respiratorio, Università...
ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in have been linked Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying mutation ZMPSTE24. The presented with partial lipodystrophic associating hypertriglyceridemia, early onset type 2 diabetes, android obesity truncal abdominal fat accumulation but...
The type V intermediate filament lamins are the principal components of nuclear matrix, including lamina. Lamins divided into A-type and B-type, which encoded by three genes, LMNA, LMNB1, LMNB2. alternative splicing LMNA produces two major lamins, lamin A C. Previous studies have suggested that involved in cancer development progression. been proposed as biomarkers for diagnosis, prognosis, and/or follow-up. aim present study was to investigate cells from metastatic pleural effusions using...
Background Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial and are frequently preceded by febrile seizures (FS) in infancy early childhood. Genetic associations several complement genes including its central component C3 with disorders nervous system, existence dysregulation MTLE particularly, make it gene a good candidate for human MTLE. Methodology/Principal Findings A case-control association study was performed first series 122 patients 196...
Abstract Human immunodeficiency virus type 1 (HIV-1) infection promotes a generalized activation of host responses that involves not only CD4 T cells, but also cells the microenvironment, which are directly infected, such as endothelial cells. The mechanisms triggering HIV-1-associated vascular alterations remain poorly understood. Extracellular vesicles (EVs), implicated in cell-to-cell communication, have been recently described carriers microRNAs (miRNAs). Here, we show miR-146b-5p is...
The patient was the only child of healthy, unrelated parents. During gestation a cleft lip and palate were detected. fetal karyotype considered normal. Vaginal delivery at 39 weeks. Birth weight 2,750 g length 49 cm. Additional dysmorphic features included microcephaly, downslanting small palpebral fissures, abnormal external ears with thick helix, single palmar creases bilaterally, partial syndactyly between second third toes. Neurologic examination Cardiologic revealed interventricular...
Background and Purpose— Laminopathies arise through mutations in genes encoding Lamin A/C ( LMNA ) or associated proteins. They cause 4 different groups of disorders with diverse severity often overlapping features: diseases striated muscle (leading to muscular cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, accelerated aging disorders. Summary Case— We report on a familial case atypical Werner syndrome (a progeroid phenotype but without typical RECQL2 mutation)...