A5010328571- DNA Repair Mechanisms
- Sarcoma Diagnosis and Treatment
- Telomeres, Telomerase, and Senescence
- Chromosomal and Genetic Variations
- Neurofibromatosis and Schwannoma Cases
- Congenital heart defects research
- Advanced biosensing and bioanalysis techniques
- CRISPR and Genetic Engineering
- Neuroblastoma Research and Treatments
- Genomic variations and chromosomal abnormalities
- Microtubule and mitosis dynamics
- RNA Interference and Gene Delivery
- Animal Genetics and Reproduction
- Virus-based gene therapy research
- Pluripotent Stem Cells Research
- Glycosylation and Glycoproteins Research
- Genomics and Chromatin Dynamics
- Anesthesia and Neurotoxicity Research
- Lymphoma Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Ocular Oncology and Treatments
- Tuberous Sclerosis Complex Research
- Infant Nutrition and Health
- Methemoglobinemia and Tumor Lysis Syndrome
- Nuclear Receptors and Signaling
Commissariat à l'Énergie Atomique et aux Énergies Alternatives
1999-2023
Institut de Radiobiologie Cellulaire et Moléculaire
1997-2023
Inserm
1993-2023
Université Paris Cité
2012-2023
CEA Paris-Saclay - Etablissement de Fontenay-aux-roses
1999-2023
Université Paris-Saclay
2014-2023
CEA Paris-Saclay
2023
Stabilité Génétique, Cellules Souches et Radiations
2020
Délégation Paris 7
2012-2019
Université Paris-Sud
2012-2019
The OGG1 gene of Saccharomyces cerevisiae encodes a DNA glycosylase activity that is functional analog the Fpg protein from Escherichia coli and excises 7,8-dihydro-8-oxoguanine (8-oxoG) damaged DNA. repair this ubiquitous kind oxidative damage essential to prevent mutations both in bacteria yeast. A human cDNA clone carrying an ORF displaying homology yeast was identified. predicted has 345 amino acids molecular mass 39 kDa. This shares 38% sequence identity with Ogg1 protein, adding novel...
Ewing's sarcoma (ES) and peripheral neuroepithelioma (PN) are related tumors, possibly of neural crest origin, which cytogenetically characterized by the specific translocation t(11;22)(q24;q12). The cos5 locus, previously identified in vicinity chromosome 22 breakpoint this translocation, was shown situ hybridization on interphase nuclei to lie between VIIIF2 LIF, two loci located either side at a distance less than 2,000 kb. progressive expansion locus walking led construction 300 kb...
A recurrent t(9;22) (q22;q12) chromosome translocation has been described in extraskeletal myxoid chondrosarcoma (EMC). Fluorescent situ hybridization experiments performed on one EMC tumour indicated that the 22 breakpoint occurred EWS gene. Northern blot analysis revealed an aberrant transcript which was cloned by a modified RT-PCR procedure. This consists of in-frame fusion 5′ end to previously unidentified gene, named TEC. detected six eight studied, and three different junction types...
The DiGeorge syndrome (DGS) is a developmental disorder affecting derivatives of the third and fourth pharyngeai pouches. DGS patients present an interstitial deletion in one their two chromosomes 22. Cosmid DAC3O was mapped to smallest critical region. Iterative cDNA library screening initIated with DAC30 gene fragment candidate yielded contig whose assembled nucleotide sequence consistent widely transcribed, 4.2–4.4 kb long, messengers detected by northern analysis. deduced protein...
Journal Article Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation novel potential adhesion receptor gene its vicinity Get access S. Demczuk, Demczuk 1Laboratoire de Génétique des Tumeurs, INSERM U 434, Institut Curie26 rue d'Ulm, 75231 Paris cedex 05, France2Center Recherche en Neuroscience, University McGill et I'Hôpital Général Montréal1650 Cedar, Montréal, Canada Search for other works by this author on: Oxford Academic PubMed Google...
Functional telomeres are protected from non-homologous end-joining (NHEJ) and homologous recombination (HR) DNA repair pathways. Replication is a critical period for because of the requirement reconstitution functional telomere conformations, process that involves proteins. Using knockdown DNA-PKcs Rad51 expression in three different cell lines, we demonstrate respective involvement NHEJ HR formation aberrations induced by G-quadruplex ligand 360A during or after replication. contributed to...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease which predisposes to the development of schwannomas, meningiomas, ependymomas, and juvenile cataracts. The NF2 gene has recently been isolated maps chromosome 22q12 between loci D22S212 D22S32. Deletion studies in sporadic associated schwannomas presence inactivating mutations patients suggest that it acts as a tumor suppressor gene. A candidate meningioma (MEN) also from same interval. new highly polymorphic (CA)n marker,...
DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 critical region. now report that one them, ZNF74 gene, hemizygously deleted 23 out 24 patients tested. mRNA transcripts are detected mouse embryos but not adult tissues. Sequence analysis corresponding cDNA reveals an open reading frame encoding 12 Kruppel/TFIIIA...
Abstract The chromosome 22 breakpoint of the t(11;22) translocation peripheral neuroepithelioma has been located, by fluorescence in situ hybridization, proximity interface between 22q12.1 and 22q12.2. Use single cosmids or pools flanking regions enables monitoring interphase metaphase chromosomes. This method can now be routinely applied for diagnosis this mixed round cell tumors.
Glioblastoma multiforme is the most aggressive primary tumor of central nervous system. Glioma stem cells (GSCs), a small population with stem-like properties, are supposedly responsible for glioblastoma relapse after current therapies. In approximately thirty percent tumors, telomeres not maintained by telomerase but through an alternative mechanism, termed lengthening telomere (ALT), suggesting potential interest in developing specific therapeutic strategies. However, no preclinical model...
We report a cytogenetic and molecular study of series patients with Alagille syndrome. All 14 were studied high resolution banding techniques eight them also analysed non-radioactive in situ hybridisation the cosmid probe D20S6. Seven these for allelic losses at D20S6 locus. No microdeletion chromosome 20 was found this series.
Ectopic expression of telomerase results in an immortal phenotype various types normal cells, including primary human fibroblasts. In addition to its role telomere lengthening, has now been found have functions, the control DNA repair, chromatin modification, and genes involved cell cycle regulation. The investigations on long-term effects fibroblast highlighted that these cells show low frequencies chromosomal aberrations. this paper, we describe karyotypic stability fibroblasts...
Although most telomere repeat sequences are found at the ends of chromosomes, some telomeric also intrachromosomal locations in mammalian cells. Several studies have that these interstitial can promote chromosome instability rodent cells, either spontaneously or following ionizing radiation. In present study we describe extensive cytogenetic analysis three different human cell lines with plasmids containing integrated sites. two lines, Q18 and P8SX, has been detected plasmid, involving...