A5074298045- Nuclear Structure and Function
- RNA Research and Splicing
- Ion channel regulation and function
- Neuroscience and Neuropharmacology Research
- DNA Repair Mechanisms
- RNA regulation and disease
- Ubiquitin and proteasome pathways
- Skin and Cellular Biology Research
- Retinoids in leukemia and cellular processes
- Genetics and Neurodevelopmental Disorders
- Developmental Biology and Gene Regulation
- Genomics and Chromatin Dynamics
- Ion Transport and Channel Regulation
- Machine Learning in Bioinformatics
- Animal Genetics and Reproduction
- Venomous Animal Envenomation and Studies
- Echinoderm biology and ecology
- Genomic variations and chromosomal abnormalities
- Down syndrome and intellectual disability research
- HIV Research and Treatment
- Nicotinic Acetylcholine Receptors Study
- Cardiac electrophysiology and arrhythmias
- Supramolecular Self-Assembly in Materials
- Connective tissue disorders research
- Neuroscience of respiration and sleep
Inserm
2004-2018
Aix-Marseille Université
2013-2018
Génétique Médicale & Génomique Fonctionelle
2003-2017
Hôpital de la Timone
1999-2017
Université Côte d'Azur
2013
Institut de Neurobiologie de la Méditerranée
2008-2011
Hôpital d'Enfants
2010
Laboratoire de Biologie et Modélisation de la Cellule
1997-2006
Hôpital de la Conception
2003-2006
Hôpital Necker-Enfants Malades
2003
2,1441,037MetricsTotal Downloads2,144Last 6 Months252Last 12 Months522Total Citations1,037Last Months0Last Months0View all metrics
Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, and rigid with erosions, prominent superficial vasculature epidermal hyperkeratosis, facial features (small mouth, small pinched nose micrognathia), sparse/absent eyelashes eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures an early neonatal lethal course....
Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, arthrogryposis early neonatal death. In two patients affected RD, we recently reported different heterozygous splicing mutations in the LMNA gene, leading to production accumulation of truncated Prelamin A. other patients, a single nucleotide insertion was identified ZMPSTE24. This variation located...
Abstract Hutchinson–Gilford progeria syndrome ( HGPS ) is a lethal premature and accelerated aging disease caused by de novo point mutation in LMNA encoding A‐type lamins. Progerin, truncated toxic prelamin A issued from aberrant splicing, accumulates cells' nuclei hallmark of the disease. Small amounts progerin are also produced during normal aging. We show that sequestered into abnormally shaped promyelocytic nuclear bodies, identified as novel biomarkers late passage cell lines. found...
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...
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...
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...
Photoreactive derivatives of alpha- and beta-scorpion toxins have been used to analyze the subunit composition Na+ channels in rat brain. In synaptosomes, both types preferentially labeled (greater than 85%) a component 34,000 Da and, at lower level, another 300,000 Da. Reduction disulfide bridges shifted this latter band from 272,000 but did not modify migration 34,000-Da component. Similarly, two bands were cultured brain neurons, one 259,000 by alpha-scorpion other toxins. Contrary what...
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 Lamins are proteins of the nuclear envelope involved in 'laminopathies', an heterogeneous group diseases sharing clinical similarities with systemic sclerosis (SSc). Methods In this context, a search was undertaken for mutations LMNA, encoding A/C, and ZMPSTE24, LBR, LMNB1, LMNB2, MAN1, SYNE1a LAP2, A/C molecular partners, Caucasian woman affected Reynolds syndrome, particular nosologic entity specifically associating limited cutaneous SSc primary biliary cirrhosis. RESULTS Coding...
A cDNA encoding a new human actin‐related protein (ARP) was cloned. The corresponding is highly conserved with the previously described ARP3 protein, suggesting that it represents second isoform of subfamily. This subsequently named ARP3β and example multiple isoforms an in single organism. gene mapped to chromosome band 7q34, centromeric Sonic Hedgehog . Gene structure analysis revealed at least part observed mRNA heterogeneity caused by alternative splicing resulting exon skipping....
Benign neonatal familial convulsions (BNFCs) represent a rare epileptic disorder with autosomal dominant mode of inheritance. To date, two voltage-gated potassium (K+) channel genes, KCNQ2 and KCNQ3, have been identified in typical BNFC families. The study new pedigrees may help detect mutations define genotype-phenotype correlations.A large Czech family was detected which inherited together broad range various nonneonatal phenotypes. Genetic linkage direct mutation analysis were performed...