A5039710185- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Chromatin Dynamics
- Immunotherapy and Immune Responses
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- RNA and protein synthesis mechanisms
- T-cell and B-cell Immunology
- Mitochondrial Function and Pathology
- Congenital heart defects research
- Tracheal and airway disorders
- Muscle Physiology and Disorders
- Immune Cell Function and Interaction
- CRISPR and Genetic Engineering
- Advanced biosensing and bioanalysis techniques
- Thyroid Disorders and Treatments
- Genomics and Rare Diseases
- RNA regulation and disease
- Genomics and Phylogenetic Studies
- Congenital Ear and Nasal Anomalies
- Nuclear Structure and Function
Inserm
2003-2017
Génétique Médicale & Génomique Fonctionelle
1997-2017
Institut de Neurobiologie de la Méditerranée
2003-2011
Institut de Biologie du Développement Marseille
2000-2006
Centre d’Immunologie de Marseille-Luminy
2002
Laboratoire de Génétique Médicale
2002
Aix-Marseille Université
2002
Centre National de la Recherche Scientifique
1994-2002
Sorbonne Université
1997
Institut de Neurosciences de la Timone
1997
Hutchinson-Gilford progeria syndrome (HGPS) is caused by a point mutation in the LMNA gene that activates cryptic donor splice site and yields truncated form of prelamin A called progerin. Small amounts progerin are also produced during normal aging. Studies with mouse models HGPS have allowed recent development first therapeutic approaches for this disease. However, none these earlier works addressed aberrant pathogenic splicing observed patients because lack an appropriate model. Here, we...
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...
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...
We have recently demonstrated that heterochromatin HP1 proteins are aberrantly distributed in lymphocytes of patients with immunodeficiency, centromeric instability and facial dysmorphy (ICF) syndrome. The three accumulate one giant body over the 1qh 16qh juxtacentromeric heterochromatins, which hypomethylated ICF. presence PML (promyelocytic leukaemia) protein within this suggests it to be a nuclear (PML-NB). structural integrity PML-NBs is major importance for normal cell functioning....
A naturally occurring miniversion of the dysferlin protein found in a patient shows that gene therapy by minigene transfer may be possible dysferlinopathies.
Journal Article Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome Get access Annie Levy, Levy Department of Medical Genetics and INSERM U406, Hôpital d'enfants de la Timone13385 Marseilles cedex 05, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Suzanne Demczuk, Demczuk 1Laboratory Tumor Genetics, U434, Institut Curie26 rue d'Ulm, 75231 Paris Alain Aurias, Aurias Danièle Depétris, Depétris Marie-Geneviève...
Paclitaxel is a recent chemotherapeutic agent that inhibits tubulin depolymerization in tumoral cells. Despite its increasing use against various human cancers, the genotoxicity of paclitaxel has never been studied on normal The vitro genotoxic effects drug were evaluated with two complementary mutagenesis tests T-lymphocytes: (1) cytokinesis-blocked micronuclei assay (CBMN) combination fluorescent situ hybridization (FISH) nonspecific centromeric probes and (2) comet performed three ways:...
Mutations in the <i>XNP/ATR-X </i>gene, located Xq13.3, are associated with several X linked mental retardation syndromes, best known being α thalassaemia (ATR-X). The XNP/ATR-X protein belongs to family of SWI/SNF DNA helicases and contains three C2-C2 type zinc fingers unknown function. Previous studies have shown that 65% mutations of<i>XNP</i> been found within finger domain (encoded by exons 7, 8, beginning exon 9) while 35% helicase extending over 3 kb at C-terminus protein. Although...
V(D)J recombination in differentiating lymphocytes is a highly regulated process terms of both cell lineage and the stage development. Transgenic knockout mouse studies have demonstrated that transcriptional enhancers from antigen receptor genes play an important role this regulation by activatingcis-recombination events. A striking example T-cell β-chain (TCRβ) gene enhancer (Eβ), which consists at least seven nuclear factor binding motifs (βE1 to βE7). Here, using well-characterized...
Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have as the only constant phenotypic feature. We identified female patient with and balanced translocation involving chromosomes 21, t(X;21)(p11.2;q22.3). Physical mapping breakpoint on human chromosome was performed using fluorescence situ hybridisation. mapped to 21 kb DNA fragment upstream first exon <i>KLF8</i> (<i>ZNF741</i>) gene Xp11.21. subsequently shown that transcript no...
Abstract The CD4 gene follows a complex and highly regulated pattern of expression throughout T cell development. This is governed by different regulatory elements that have been partly identified, including promoter, proximal enhancer, silencer. Here we show minigene comprising combination these specifically expressed in mature CD4+ cells transgenic mice, but not CD4+CD8+ double positive thymocytes. proportion transgene-expressing was constant within given line, varied greatly from one line...
Abstract We describe here a patient with intrachromosomal triplication 15q11‐q13, rare chromosomal event associated severe mental retardation and intractable epilepsy. Cytogenetic studies including FISH on interphasic nuclei showed that the middle segment of was inverted in orientation. Molecular analyses demonstrated rearrangement maternal origin. Based these cytogenetic molecular data those nine cases reported literature, we discuss mechanistic origins triplications. present several...