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51

Epigénétique, Chromatine et Maladies


Article dans une revue44 documents

  • Christopher Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, et al.. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉. 〈hal-01617529〉
  • Stephanie Simoncini, Anne-Line Château, Stéphane Robert, Dilyana Todorova, Catherine Yzydorzick, et al.. Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6. Scientific Reports, Nature Publishing Group, 2017, 7 (1), pp.8277. 〈10.1038/s41598-017-08883-1〉. 〈hal-01663685〉
  • Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlene Chaix, et al.. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. Human Mutation, Wiley, 2017, 38 (10), pp.1432 - 1441. 〈10.1002/humu.23304〉. 〈hal-01614514〉
  • Jérôme Robin, Frédérique Magdinier. Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge. Frontiers in Genetics, Frontiers, 2016, 7, 〈10.3389/fgene.2016.00153〉. 〈hal-01663651〉
  • Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Campana Salort, et al.. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. BMC Medical Genetics, BioMed Central, 2016, 17, pp.66. 〈10.1186/s12881-016-0328-9〉. 〈hal-01378417〉
  • Francesca Puppo, E. Dionnet, Mc. Gaillard, P. Gaildrat, C. Castro, et al.. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation, Wiley, 2015, 36 (4), pp.443-53. 〈10.1002/humu.22760〉. 〈hal-01431349〉
  • Soraya Boushaki, Azzedine Tahiat, Yanis Meddour, Koon Wing Chang, Samia Chaib, et al.. Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia. Clinical Immunology, Elsevier, 2015, 161 (2), pp.286-290. 〈10.1016/j.clim.2015.09.011〉. 〈hal-01663628〉
  • Débora Portilho, Marcelo Ribeiro Alves, Gueorgui Kratassiouk, Stéphane Roche, Frédérique Magdinier, et al.. miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies. PLoS ONE, Public Library of Science, 2015, 10 (2), pp.e0116853. 〈10.1371/journal.pone.0116853〉. 〈hal-01219803〉
  • Francesca Puppo, Eugenie Dionnet, Marie-Cécile Gaillard, Pascaline Gaildrat, Christel Castro, et al.. Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype. Human Mutation, Wiley, 2015, 36 (4), pp.443 - 453. 〈10.1002/humu.22760〉. 〈hal-01662841〉
  • Emmanuelle Salort Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, et al.. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10, pp.2. 〈10.1186/s13023-014-0218-1〉. 〈hal-01610016〉
  • Jérôme Robin, Andrew Ludlow, Kimberly Batten, Marie-Cécile Gaillard, Guido Stadler, et al.. SORBS2 transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy. Genome Research, Cold Spring Harbor Laboratory Press, 2015, 25 (12), pp.1781 - 1790. 〈10.1101/gr.190660.115〉. 〈hal-01663663〉
  • Virginie Mariot, S. Roche, Christophe Hourdé, Débora Portilho, Sabrina Sacconi, et al.. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Annals of Neurology, Wiley, 2015, 78 (3), pp.387-400. 〈10.1002/ana.24446〉. 〈hal-01431338〉
  • Marie-Cécile Gaillard, Stéphane Roche, Camille Dion, Armand Tasmadjian, Gwenaelle Bouget, et al.. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology, American Academy of Neurology, 2014, 83 (8), pp.733-742. 〈10.1212/WNL.0000000000000708〉. 〈hal-01610019〉
  • Cherif Badja, Galyna Maleeva, Claire El-Yazidi, Emilie Barruet, Manon Lasserre, et al.. Efficient and Cost-Effective Generation of Mature Neurons From Human Induced Pluripotent Stem Cells. Stem Cells Translational Medicine, 2014, 3 (12), pp.1467 - 1472. 〈10.5966/sctm.2014-0024〉. 〈hal-01663655〉
  • Paula Vassallo, Stephanie Simoncini, Isabelle Ligi, Anne-Line Château, Richard Bachelier, et al.. Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression. Blood, American Society of Hematology, 2014, 123 (13), pp.2116 - 2126. 〈10.1182/blood-2013-02-484956〉. 〈hal-01666068〉
  • Jérôme Robin, Andrew T. Ludlow, Kimberly Batten, Frédérique Magdinier, Guido Stadler, et al.. Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances. Genes and Development, Cold Spring Harbor Laboratory Press, 2014, 28 (22), pp.2464 - 2476. 〈10.1101/gad.251041.114〉. 〈hal-01663660〉
  • Natacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, Julie Dumonceaux, Julia Torrents, et al.. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (20), pp.4206 - 4214. 〈10.1093/hmg/ddt272〉. 〈hal-01662672〉
  • Maxime Ferreboeuf, Virginie Mariot, Bettina Bessières, Alexandre Vasiljevic, Tania Attié-Bitach, et al.. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.. Human Molecular Genetics, Oxford University Press (OUP), 2013, 23 (1), epub ahead of print. 〈10.1093/hmg/ddt409〉. 〈hal-00868855〉
  • Irmina Diala, Nicole Wagner, Frédérique Magdinier, Marina Shkreli, Maria Sirakov, et al.. Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway. EMBO Reports, EMBO Press, 2013, 14 (4), pp.356 - 363. 〈10.1038/embor.2013.16〉. 〈hal-01663630〉
  • Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, et al.. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.. PLoS Genetics, Public Library of Science, 2013, 9 (6), pp.e1003550. 〈10.1371/journal.pgen.1003550〉. 〈hal-00862092〉
  • Amina Boussouar, Caroline Barette, Robert Nadon, Adelaïde Saint-Léger, Natacha Broucqsault, et al.. Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells. Molecular Therapy - Nucleic Acids, Nature Publishing Group, 2013, 2, pp.e116. 〈10.1038/mtna.2013.42〉. 〈hal-01617538〉
  • Alessandra Galati, Frédérique Magdinier, Valentina Colasanti, Serge Bauwens, Sébastien Pinte, et al.. TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner.. PLoS ONE, Public Library of Science, 2012, 7 (4), pp.e34386. 〈10.1371/journal.pone.0034386〉. 〈pasteur-00974843〉
  • Thomas Simonet, Laure-Emmanuelle Saragosi, Claude Philippe, Kevin Lebrigand, Clémentine Schouteden, et al.. The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats. Cell Research, Nature Publishing Group, 2011, 21, pp.1028-1038. 〈10.1038/cr.2011.40〉. 〈ensl-00815016〉
  • Alexandre Ottaviani, Caroline Schluth-Bolard, Eric Gilson, Frédérique Magdinier. D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells. Nucleus, European Nuclear Society, 2010, 1 (1), pp.30-36. 〈10.4161〉. 〈ensl-00817391〉
  • Jing Ye, Christelle Lenain, Serge Bauwens, Angela Rizzo, Adelaïde Saint-Léger, et al.. TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage.. Cell, Elsevier, 2010, 142 (2), pp.230-42. 〈10.1016/j.cell.2010.05.032〉. 〈hal-00527228〉
  • Jing Ye, Christelle Lenain, Serge Bauwens, Angela Rizzo, Adelaïde Saint-Léger, et al.. TRF2 and Apollo Cooperate with Topoisomerase 2α to Protect Human Telomeres from Replicative Damage. Cell, Elsevier, 2010, 142 (2), pp.230-242. 〈10.1016/j.cell.2010.05.032〉. 〈ensl-00817706〉
  • Isabelle Ourliac-Garnier, Anaïs Poulet, Razan Charif, Simon Amiard, Frédérique Magdinier, et al.. Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1. Journal of Biological Inorganic Chemistry, Springer Verlag, 2010, 15 (5), pp.641-654. 〈10.1007〉. 〈ensl-00817412〉
  • Nausicaa Arnoult, Caroline Schluth-Bolard, Anne Letessier, Irena Drascovic, Rachida Bouarich-Bourimi, et al.. Replication Timing of Human Telomeres Is Chromosome Arm-Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization. PLoS Genetics, Public Library of Science, 2010, 6 (4), pp.e1000920. 〈10.1371〉. 〈ensl-00815144〉
  • Claire Falandry, Geneviève Fourel, Vincent Galy, Tutik Ristriani, Béatrice Horard, et al.. CLLD8/KMT1F Is a Lysine Methyltransferase That Is Important for Chromosome Segregation. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2010, 285, pp.20234-20241. 〈10.1074〉. 〈ensl-00815661〉
  • Alexandre Ottaviani, Caroline Schluth-Bolard, Sylvie Rival-Gervier, Amina Boussouar, Delphine Rondier, et al.. Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF. The EMBO journal., 2009, 28, pp.2428 - 2436. 〈hal-01663788〉
  • Béatrice Horard, Angéline Eymery, Geneviève Fourel, Nikita Vassetzky, Jacques Puechberty, et al.. Global analysis of DNA methylation and transcription of human repetitive sequences.. Epigenetics, Taylor & Francis, 2009, 4 (5), pp.339-50. 〈hal-00851248〉
  • Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea Foerster, Delphine Rondier, et al.. The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy. PLoS Genetics, Public Library of Science, 2009, 5 (2), 〈10.1371/journal.pgen.1000394〉. 〈hal-01663636〉
  • Alexandre Ottaviani, Eric Gilson, Frédérique Magdinier. Telomeric position effect: From the yeast paradigm to human pathologies?. Biochimie, Elsevier, 2008, 90 (1), pp.93 - 107. 〈10.1016/j.biochi.2007.07.022〉. 〈hal-01663623〉
  • Emilie Auriol, Lise-Marie Billard, Frédérique Magdinier, Robert Dante. Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus. Nucleic Acids Research, Oxford University Press, 2005, 33 (13), pp.4243-4254. 〈10.1093/nar/gki729〉. 〈hal-01663899〉
  • Pierre-Antoine Defossez, Kevin F. Kelly, Guillaume J. P. Filion, Roberto Pérez-Torrado, Frédérique Magdinier, et al.. The Human Enhancer Blocker CTC-binding Factor Interacts with the Transcription Factor Kaiso. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2005, 280 (52), pp.43017-43023. 〈10.1074/jbc.M510802200〉. 〈hal-01663916〉
  • Geneviève Fourel, Frédérique Magdinier, Eric Gilson. Insulator dynamics and the setting of chromatin domains. BioEssays, Wiley-VCH Verlag, 2004, 26 (5), pp.523-532. 〈10.1002/bies.20028〉. 〈hal-01663885〉
  • G. Felsenfeld, B. Burgess-Beusse, C. Farrell, M. Gaszner, R. Ghirlando, et al.. Chromatin Boundaries and Chromatin Domains. Cold Spring Harbor Symposia on Quantitative Biology, Cold Spring Harbor Laboratory; 1999, 2004, 69, pp.245-250. 〈10.1101/sqb.2004.69.245〉. 〈hal-01663828〉
  • Frédérique Magdinier, Timur M. Yusufzai, Gary Felsenfeld. Both CTCF-dependent and -independent Insulators Are Found between the Mouse T Cell Receptor α and Dad1 Genes. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2004, 279 (24), pp.25381-25389. 〈10.1074/jbc.M403121200〉. 〈hal-01663904〉
  • Lise-Marie Billard, Frédérique Magdinier, Gilbert Lenoir, Lucien Frappart, Robert Dante. MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland. Oncogene, Nature Publishing Group, 2002, 21, pp.2704-2712. 〈10.1038/sj.onc.1205357〉. 〈hal-01663809〉
  • Frédérique Magdinier, Alan P. Wolffe. Selective association of the methyl-CpG binding protein MBD2 with the silent p14/p16 locus in human neoplasia. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2001, 98 (9), pp.4990-4995. 〈10.1073/pnas.101617298〉. 〈hal-01663920〉
  • Frédérique Magdinier, Lise-Marie Billard, Gaelle Wittmann, Lucien Frappart, Mehdi Benchai, et al.. Regional methylation of the 5 end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells. FASEB Journal, Federation of American Society of Experimental Biology, 2000, 14 (11), pp.1585-1594. 〈http://www.fasebj.org/content/14/11/1585.abstract〉. 〈10.1096/fj.99-0817com〉. 〈hal-01663881〉
  • Frédérique Magdinier, Nicole Dalla Venezia, Gilbert Lenoir, Lucien Frappart, Robert Dante. BRCA1 expression during prenatal development of the human mammary gland. Oncogene, Nature Publishing Group, 1999, 18 (27), pp.4039-4043. 〈10.1038/sj.onc.1202780〉. 〈hal-01663803〉
  • Frédérique Magdinier, Stéphane Ribieras, Gilbert M Lenoir, Lucien Frappart, Robert Dante. Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region. Oncogene, Nature Publishing Group, 1998, 17 (24), pp.3169-3176. 〈10.1038/sj.onc.1202248〉. 〈hal-01663794〉
  • Stéphane Ribieras, Frédérique Magdinier, Delphine Leclerc, Gilbert Lenoir, Lucien Frappart, et al.. ABUNDANCE OF BRCA1 TRANSCRIPTS IN HUMAN CANCER AND LYMPHOBLASTOID CELL LINES CARRYING BRCA1 GERM-LINE ALTERATIONS. International Journal of Cancer, Wiley, 1997, 73 (5), pp.715-718. 〈10.1002/(SICI)1097-0215(19971127)73:5<715::AID-IJC17>3.0.CO;2-4〉. 〈hal-01663921〉

Communication dans un congrès1 document

  • Anne-Line Chateau, Stephanie Simoncini, N Baschet, Stephane Robert, L Ligi, et al.. SIRT1 Deficiency in endothelial progenitor cells drives pro-senescent microparticles release through MKK6 upregulation . ISTH 2016 SSC, May 2016, MONTPELLIER, France. WILEY-BLACKWELL, JOURNAL OF THROMBOSIS AND HAEMOSTASIS 14 (VAS18), pp.139, 2016. 〈hal-01463803〉

Poster6 documents

  • Karine Nguyen, Francesca Puppo, Natacha Broucqsault, Stéphane Roche, Charlene Chaix, et al.. L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.. 9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. 2018, 〈http://www.assises-genetique.org〉. 〈hal-01695264〉
  • Camille Dion, Marie-Cécile Gaillard, Arnaud Lagarde, Cherif Badja, Armand Tasmadjian, et al.. 3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC. EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany. 〈hal-01675614〉
  • Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort-Campana, et al.. Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy. 13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. 2015, 〈http://www.sfmyologie.org/〉. 〈hal-01688694〉
  • Cherif Badja, Marie-Cécile Gaillard, Claire El-Yazidi, Marc Bartoli, Stéphane Roche, et al.. DIRECT AND EFFICIENT DERIVATION OF SKELETAL MUSCLE CELLS FROM HUMAN INDUCED PLURIPOTENT STEM CELLS. International Society For Stem Cell Research - Annual Meeting, Jun 2015, Stockholm, Sweden. 〈http://www.isscr.org/meetings-events/annual-meetings/past-meetings/isscr-2015-stockholm〉. 〈hal-01676453〉
  • Marie-Cécile Gaillard, Camille Dion, Francesca Puppo, Marc Bartoli, Karine N'Guyen, et al.. DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy. EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany. 〈hal-01676426〉
  • Marie-Cécile Gaillard, Natacha Broucqsault, C Chaix, C Vovan, Stéphane Roche, et al.. Analyses de profils épigénétiques dans la dystrophie facio-scapulo-humérale : de la méthylation de l’ADN vers des corrélations génotype-phénotype. Xeme Journées Annuelles de la Société Francaise de Myologie & Colloque de Myogenèse, Nov 2012, Grenoble, France. 2012, 〈http://www.sfmyologie.org/〉. 〈hal-01688662〉