Frederique Magdinier

114
Documents

Présentation

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Publications

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Chemical inhibition of SUMOylation activates the FSHD locus

Alice Nordlinger , Loéva Morin , Alexandra Andrieux , Jean Philippe Trani , Pierre Perrin et al.

Scientific Reports, In press, ⟨10.1038/S41598-025-33624-0⟩

Article dans une revue hal-05454310v1
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Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state

Justine Guguin , Alicia Besson , Sara Nait Atmane , Claire El Yazidi , Ola Hadadeh et al.

Stem Cell Research, 2026, 92, pp.103940. ⟨10.1016/j.scr.2026.103940⟩

Article dans une revue hal-05545915v1
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Telomere Position Effect‐Over Long Distances Acts as a Genome‐Wide Epigenetic Regulator Through a Common Alu Element

Raphaël Chevalier , Victor Murcia Pienkowski , Nicolas Jullien , Leslie Caron , Pascal Verdier Pinard et al.

Aging Cell, 2025, ⟨10.1111/acel.70027⟩

Article dans une revue hal-04990203v1
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Laser‐Induced Structuring of Biocompatible Polymers for the Controlled Orientation of Multinucleated Myotubes

Clarissa Murru , Lucas Duvert , Daniel Ferry , Ahmed Al‐kattan , Frederique Magdinier et al.

Advanced Materials Interfaces, 2025, 12 (12), ⟨10.1002/admi.202500131⟩

Article dans une revue hal-05063860v1
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miR ‐140‐5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson‐Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway

Léa Toury , Diane Frankel , Sara Nael , Mario Abaji , Léa Le Goff et al.

Aging Cell, 2025, pp.e70276. ⟨10.1111/acel.70276⟩

Article dans une revue hal-05346231v1
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Laser-induced forward transfer in picosecond regime for cell bioprinting

Lucas Duvert , Claris Murru , Ahme Al-Kattan , Anne-Patric Alloncle , Frederique Magdinier et al.

International Journal of Bioprinting, 2025, ⟨10.36922/ijb.7788⟩

Article dans une revue hal-05016640v1
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Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

Julien van Gils , Slim Karkar , Aurelien Barre , Seyta Ley-Ngardigal , Sophie Nothof et al.

Communications Biology, 2024, 7 (1), ⟨10.1038/s42003-024-06939-3⟩

Article dans une revue hal-04930442v1
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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Emiliano Giardina , Pilar Camano , Sarah Burton-Jones , Gina Ravenscroft , Franclo Henning et al.

Clinical Genetics, 2024, 106 (1), pp.13-26. ⟨10.1111/cge.14533⟩

Article dans une revue hal-04930460v1
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The HUSH epigenetic repressor complex silences PML nuclear body- associated HSV-1 quiescent genomes

Simon Roubille , Tristan Escure , Franceline Juillard , Armelle Corpet , Remi Neplaz et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024, 121 (49), pp.e2412258121. ⟨10.1073/pnas.2412258121⟩

Article dans une revue hal-04930430v1
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Assessment of laser-synthesized Si nanoparticle effects on myoblast motility, proliferation and differentiation: towards potential tissue engineering applications

Clarissa Murru , Lucas Duvert , Frederique Magdinier , Adrien Casanova , P. Alloncle et al.

Nanoscale Advances, 2024, ⟨10.1039/d3na01020a⟩

Article dans une revue hal-04530457v1
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Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis

Hager Jaouadi , Victor Morel , Helene Martel , Pierre Lindenbaum , Lorcan Lamy de La Chapelle et al.

Frontiers in Medicine, 2024, 11, ⟨10.3389/fmed.2024.1480947⟩

Article dans une revue hal-04930436v1

Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis

Maria Sol Jacome Burbano , Jerome D. Robin , Serge Bauwens , Marjorie Martin , Emma Donati et al.

Communications Biology, 2023, 6 (1), ⟨10.1038/s42003-023-04903-1⟩

Article dans une revue hal-04254202v1
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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype

Camille Laberthonnière , Mégane Delourme , Raphaël Chevalier , Camille Dion , Benjamin Ganne et al.

Nucleic Acids Research, 2023, 51 (14), pp.7269-7287. ⟨10.1093/nar/gkad523⟩

Article dans une revue hal-04134959v1
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Complex 4q35 and 10q26 Rearrangements

Megane Delourme , Chaix Charlene , Laurene Gerard , Benjamin Ganne , Pierre Perrin et al.

Neurology Genetics, 2023, 9 (3), pp.e200076. ⟨10.1212/NXG.0000000000200076⟩

Article dans une revue hal-04111930v1

268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Federica Montagnese , Katy de Valle , Richard J.L.F. Lemmers , Karlien Mul , Julie Dumonceaux et al.

Neuromuscular Disorders, 2023, 33 (5), pp.447-462. ⟨10.1016/j.nmd.2023.04.005⟩

Article dans une revue hal-05469102v1
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A novel extrusion-based 3D bioprinting system for skeletal muscle tissue engineering

E Fornetti , F de Paolis , C Fuoco , S Bernardini , S Giannitelli et al.

Biofabrication, 2023, 15 (2), pp.025009. ⟨10.1088/1758-5090/acb573⟩

Article dans une revue hal-03974646v1
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Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication

Sophie A. Nothof , Frédérique Magdinier , Julien Van-Gils

Genes, 2022, 13 (4), pp.639. ⟨10.3390/genes13040639⟩

Article dans une revue (article de synthèse) hal-03678849v1
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I.09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design

Mégane Delourme , Camille Laberthonnière , Stefano Testa , Leslie Caron , Frédérique Magdinier

Neuromuscular Disorders, 2022, 32, pp.S95. ⟨10.1016/j.nmd.2022.07.221⟩

Article dans une revue hal-04033677v1
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miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

Diane Frankel , Valerie Delecourt , Elva-María Novoa-Del-Toro , Jérôme Robin-Ducellier , Coraline Airault et al.

iScience, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩

Article dans une revue hal-03788582v1
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Laetitia Dard , Christophe Hubert , Pauline Esteves , Wendy Blanchard , Ghina Bou About et al.

JOURNAL OF CLINICAL INVESTIGATION, 2022, 132 (8), ⟨10.1172/JCI131053⟩

Article dans une revue hal-03780356v1
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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

María del Carmen Ortuño-Costela , Victoria Cerrada , Ana Moreno-Izquierdo , Inés García-Consuegra , Camille Laberthonnière et al.

International Journal of Molecular Sciences, 2022, 23 (22), pp.13964. ⟨10.3390/ijms232213964⟩

Article dans une revue hal-04039822v1

Joining mainstream research on Facioscapulohumeral Dystophy: disease prevalence in China

Frédérique Magdinier

The Lancet Regional Health - Western Pacific, 2022, 18, pp.100328. ⟨10.1016/j.lanwpc.2021.100328⟩

Article dans une revue hal-03587013v1
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miR-140-5p and miR-140-3p: Key Actors in Aging-Related Diseases?

Léa Toury , Diane Frankel , Coraline Airault , Frédérique Magdinier , Patrice Roll et al.

International Journal of Molecular Sciences, 2022, 23 (19), pp.11439. ⟨10.3390/ijms231911439⟩

Article dans une revue hal-03821881v1
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HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

Shifeng Xue , Thanh Thao Nguyen Ly , Raunak S. Vijayakar , Jingyi Chen , Joel Ng et al.

Nature Communications, 2022, 13 (1), ⟨10.1038/s41467-022-31185-8⟩

Article dans une revue hal-03780350v1
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite

Camille Dion , Stéphane Roche , Camille Laberthonnière , Natacha Broucqsault , Virginie Mariot et al.

iScience, 2022, 25 (2), pp.103757. ⟨10.1093/nar/gkz005⟩

Article dans une revue hal-02002680v1
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Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

Camille Laberthonnière , Elva-María Novoa-Del-Toro , Mégane Delourme , Raphaël Chevalier , Natacha Broucqsault et al.

Journal of Cachexia, Sarcopenia and Muscle, 2022, 13 (1), pp.621-635. ⟨10.1002/jcsm.12835⟩

Article dans une revue hal-03586975v1
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Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging

Jean Philippe Trani , Raphaël Chevalier , Leslie Caron , Claire El Yazidi , Natacha Broucqsault et al.

Life Science Alliance, 2022, 5 (12), pp.e202201501. ⟨10.26508/lsa.202201501⟩

Article dans une revue hal-04034056v1
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Dystrophie musculaire facio-scapulo-humérale

Frédérique Magdinier , Benjamin Ganne , Mégane Delourme , Karine Nguyen , Rafaelle Bernard

Médecine/Sciences, 2022, 38, pp.52 - 54. ⟨10.1051/medsci/2022184⟩

Article dans une revue hal-03960116v1
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AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome

Camille Laberthonnière , Elva-María Novoa-Del-Toro , Raphaël Chevalier , Natacha Broucqsault , Vanitha Venkoba Rao et al.

Biomedicines, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩

Article dans une revue hal-03280671v1
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Short-Pulse Lasers: A Versatile Tool in Creating Novel Nano-/Micro-Structures and Compositional Analysis for Healthcare and Wellbeing Challenges

Ahmed Al-Kattan , David Grojo , Christophe Drouet , Alexandros Mouskeftaras , Philippe Delaporte et al.

Nanomaterials, 2021, 11 (3), pp.712. ⟨10.3390/nano11030712⟩

Article dans une revue hal-03167757v1
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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Julien van Gils , Frédérique Magdinier , Patricia Fergelot , Didier Lacombe

Genes, 2021, 12 (7), pp.968. ⟨10.3390/genes12070968⟩

Article dans une revue hal-03280646v1
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A multi-objective genetic algorithm to find active modules in multiplex biological networks

Elva-María Novoa-Del-Toro , Efrén Mezura-Montes , Matthieu Vignes , Morgane Térézol , Frédérique Magdinier et al.

PLoS Computational Biology, 2021, 17 (8), pp.e1009263. ⟨10.1371/journal.pcbi.1009263⟩

Article dans une revue hal-03372492v1
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Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime

Jérôme Robin-Ducellier , Maria‐sol Jacome Burbano , Han Peng , Olivier Croce , Jean Luc Thomas et al.

Aging Cell, 2020, 19 (3), pp.e13097. ⟨10.1111/acel.13097⟩

Article dans une revue hal-03080383v1
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Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Emmanuelle Salort-Campana , Farzad Fatehi , Sadia Beloribi-Djefaflia , Stéphane Roche , Karine Nguyen et al.

International Journal of Molecular Sciences, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩

Article dans une revue hal-02533845v1
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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells

Kilian Mazaleyrat , Cherif Badja , Natacha Broucqsault , Raphaël Chevalier , Camille Laberthonnière et al.

Cells, 2020, 9 (6), pp.1531. ⟨10.3390/cells9061531⟩

Article dans une revue hal-03080368v1
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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Ana Nikolic , Takako Jones , Monica Govi , Fabiano Mele , Louise Maranda et al.

International Journal of Molecular Sciences, 2020, 21 (7), pp.2635. ⟨10.3390/ijms21072635⟩

Article dans une revue hal-03142878v1
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Does DNA Methylation Matter in FSHD?

Valentina Salsi , Frédérique Magdinier , Rossella Tupler

Genes, 2020, 11 (3), pp.258. ⟨10.3390/genes11030258⟩

Article dans une revue hal-02503971v1

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19–20 June 2019

June Kinoshita , Frédérique Magdinier , George Padberg

Neuromuscular Disorders, 2019, 29 (10), pp.811-817. ⟨10.1016/j.nmd.2019.08.015⟩

Article dans une revue hal-02332748v1
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In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells

Chiara Uboldi , Marcos Sanles Sobrido , Elodie Bernard , Virginie Tassistro , Nathalie Herlin-Boime et al.

Nanomaterials, 2019, From Basic Research to New Tools and Challenges for the Genotoxicity Testing of Nanomaterials, 9 (9), pp.1233. ⟨10.3390/nano9091233⟩

Article dans une revue hal-02352628v1
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Karine Nguyen , Natacha Broucqsault , Charlene Chaix , Stéphane Roche , Jérôme Robin-Ducellier et al.

Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2018-105949⟩

Article dans une revue hal-02140159v1
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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.

Marie-Cécile Gaillard , Natacha Broucqsault , Julia Morere , Camille Laberthonnière , Camille Dion et al.

Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩

Article dans une revue hal-01951503v2
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard et al.

Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩

Article dans une revue hal-02406985v1
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Estimation de l'âge médicolégal grâce à l'étude de la méthylation de l'ADN : revue de la littérature

Juliette Bacquet , Frédérique Magdinier , G. Léonetti , C. Bartoli , J. Chiaroni et al.

La Revue de Médecine Légale, 2019, ⟨10.1016/j.medleg.2019.07.001⟩

Article dans une revue hal-02407527v1

DNA methylation in satellite repeats disorders

Claire Francastel , Frédérique Magdinier

Essays in Biochemistry, 2019, pp.EBC20190028. ⟨10.1042/EBC20190028⟩

Article dans une revue hal-02264755v1
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Bring It to an End: Does Telomeres Size Matter?

Camille Laberthonnière , Frédérique Magdinier , Jérôme Robin-Ducellier

Cells, 2019, 8 (1), pp.30. ⟨10.3390/cells8010030⟩

Article dans une revue hal-01992677v1
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher et al.

Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩

Article dans une revue hal-02140150v1
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Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6

Stephanie Simoncini , Anne-Line Château , Stéphane Robert , Dilyana Todorova , Catherine Yzydorzick et al.

Scientific Reports, 2017, 7 (1), pp.8277. ⟨10.1038/s41598-017-08883-1⟩

Article dans une revue hal-01663685v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen et al.

Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩

Article dans une revue hal-01617529v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix et al.

Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩

Article dans une revue hal-01614514v1
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Campana Salort et al.

BMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩

Article dans une revue hal-01378417v1
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Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Jérôme Robin-Ducellier , Frédérique Magdinier

Frontiers in Genetics, 2016, 7, ⟨10.3389/fgene.2016.00153⟩

Article dans une revue hal-01663651v1
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Emmanuelle Salort Campana , Karine Nguyen , Rafaelle Bernard , Elisabeth Jouve , Guilhem Solé et al.

Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩

Article dans une revue hal-01610016v1
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miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies

Débora Portilho , Marcelo Ribeiro Alves , Gueorgui Kratassiouk , Stéphane Roche , Frédérique Magdinier et al.

PLoS ONE, 2015, 10 (2), pp.e0116853. ⟨10.1371/journal.pone.0116853⟩

Article dans une revue hal-01219803v1
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SORBS2 transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

Jérôme Robin-Ducellier , Andrew T Ludlow , Kimberly Batten , Marie-Cécile Gaillard , Guido Stadler et al.

Genome Research, 2015, 25 (12), pp.1781 - 1790. ⟨10.1101/gr.190660.115⟩

Article dans une revue hal-01663663v1
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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

Virginie Mariot , S. Roche , Débora Portilho , Sabrina Sacconi , Francesca Puppo et al.

Annals of Neurology, 2015, 78 (3), pp.387-400. ⟨10.1002/ana.24446⟩

Article dans une revue hal-01431338v1
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Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

Soraya Boushaki , Azzedine Tahiat , Yanis Meddour , Koon Wing Chang , Samia Chaib et al.

Clinical Immunology, 2015, 161 (2), pp.286-290. ⟨10.1016/j.clim.2015.09.011⟩

Article dans une revue hal-01663628v1
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Francesca Puppo , Eugénie Dionnet , Marie-Cécile Gaillard , Pascaline Gaildrat , Christel Castro et al.

Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩

Article dans une revue hal-01662841v1
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Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Paula Frizera Vassallo , Stephanie Simoncini , Isabelle Ligi , Anne-Line Château , Richard Bachelier et al.

Blood, 2014, 123 (13), pp.2116 - 2126. ⟨10.1182/blood-2013-02-484956⟩

Article dans une revue hal-01666068v1
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Marie-Cécile Gaillard , Stéphane Roche , Camille Dion , Armand Tasmadjian , Gwenaelle Bouget et al.

Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩

Article dans une revue hal-01610019v1
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Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

Jérôme Robin-Ducellier , Andrew T. Ludlow , Kimberly Batten , Frédérique Magdinier , Guido Stadler et al.

Genes and Development, 2014, 28 (22), pp.2464 - 2476. ⟨10.1101/gad.251041.114⟩

Article dans une revue hal-01663660v1
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Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

Irmina Diala , Nicole Wagner , Frédérique Magdinier , Marina Shkreli , Maria Sirakov et al.

EMBO Reports, 2013, 14 (4), pp.356 - 363. ⟨10.1038/embor.2013.16⟩

Article dans une revue hal-01663630v1
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Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells

Amina Boussouar , Caroline Barette , Robert Nadon , Adelaïde Saint-Léger , Natacha Broucqsault et al.

Molecular Therapy - Nucleic Acids, 2013, 2, pp.e116. ⟨10.1038/mtna.2013.42⟩

Article dans une revue hal-01617538v1
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

Nathalie Caruso , Balàzs Herberth , Marc Bartoli , Francesca Puppo , Julie Dumonceaux et al.

PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩

Article dans une revue hal-00862092v1
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DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

Maxime Ferreboeuf , Virginie Mariot , Bettina Bessières , Alexandre Vasiljevic , Tania Attié-Bitach et al.

Human Molecular Genetics, 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩

Article dans une revue hal-00868855v1
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Natacha Broucqsault , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents et al.

Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩

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TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner.

Alessandra Galati , Frédérique Magdinier , Valentina Colasanti , Serge Bauwens , Sébastien Pinte et al.

PLoS ONE, 2012, 7 (4), pp.e34386. ⟨10.1371/journal.pone.0034386⟩

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TRF2 Controls Telomeric Nucleosome Organization in a Cell Cycle Phase-Dependent Manner

Alessandra Galati , Frédérique Magdinier , Valentina Colasanti , Serge Bauwens , Sébastien Pinte et al.

PLoS ONE, 2012, 7 (4), pp.e34386. ⟨10.1371/journal.pone.0034386⟩

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The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

Thomas Simonet , Laure-Emmanuelle Saragosi , Claude Philippe , Kevin Lebrigand , Clémentine Schouteden et al.

Cell Research, 2011, 21, pp.1028-1038. ⟨10.1038/cr.2011.40⟩

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CLLD8/KMT1F Is a Lysine Methyltransferase That Is Important for Chromosome Segregation

Claire Falandry , Geneviève Fourel , Vincent Galy , Tutik Ristriani , Béatrice Horard et al.

Journal of Biological Chemistry, 2010, 285, pp.20234-20241

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Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1

Isabelle Ourliac-Garnier , Anaïs Poulet , Razan Charif , Simon Amiard , Frédérique Magdinier et al.

Journal of Biological Inorganic Chemistry, 2010, 15 (5), pp.641-654

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Replication Timing of Human Telomeres Is Chromosome Arm-Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization

Nausicaa Arnoult , Caroline Schluth-Bolard , Anne Letessier , Irena Drascovic , Rachida Bouarich-Bourimi et al.

PLoS Genetics, 2010, 6 (4), pp.e1000920

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TRF2 and Apollo Cooperate with Topoisomerase 2α to Protect Human Telomeres from Replicative Damage

Jing Ye , Christelle Lenain , Serge Bauwens , Angela Rizzo , Adelaïde Saint-Léger et al.

Cell, 2010, 142 (2), pp.230-242. ⟨10.1016/j.cell.2010.05.032⟩

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D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

Alexandre Ottaviani , Caroline Schluth-Bolard , Eric Gilson , Frédérique Magdinier

Nucleus, 2010, 1 (1), pp.30-36

Article dans une revue ensl-00817391v1
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Global analysis of DNA methylation and transcription of human repetitive sequences.

Béatrice Horard , Angéline Eymery , Geneviève Fourel , Nikita Vassetzky , Jacques Puechberty et al.

Epigenetics, 2009, 4 (5), pp.339-50. ⟨10.4161/epi.4.5.9284⟩

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The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

Alexandre Ottaviani , Sylvie Rival-Gervier , Amina Boussouar , Andrea M Foerster , Delphine Rondier et al.

PLoS Genetics, 2009, 5 (2), 18 p. ; e1000394. ⟨10.1371/journal.pgen.1000394⟩

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Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

Alexandre Ottaviani , Caroline Schluth-Bolard , Sylvie Rival-Gervier , Amina Boussouar , Delphine Rondier et al.

EMBO Journal, 2009, 28, pp.2428 - 2436. ⟨10.1038/emboj.2009.201⟩

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Telomeric position effect: From the yeast paradigm to human pathologies?

Alexandre Ottaviani , Eric Gilson , Frédérique Magdinier

Biochimie, 2008, 90 (1), pp.93 - 107. ⟨10.1016/j.biochi.2007.07.022⟩

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Telomeric position effect: From the yeast paradigm to human pathologies?

Alexandre Ottaviani , Eric Gilson , Frédérique Magdinier

Biochimie, 2007, 90 (1), pp.93-107

Article dans une revue hal-02655069v1
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Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus

Emilie Auriol , Lise-Marie Billard , Frédérique Magdinier , Robert Dante

Nucleic Acids Research, 2005, 33 (13), pp.4243-4254. ⟨10.1093/nar/gki729⟩

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The Human Enhancer Blocker CTC-binding Factor Interacts with the Transcription Factor Kaiso

Pierre-Antoine Defossez , Kevin F. Kelly , Guillaume J. P. Filion , Roberto Pérez-Torrado , Frédérique Magdinier et al.

Journal of Biological Chemistry, 2005, 280 (52), pp.43017-43023. ⟨10.1074/jbc.M510802200⟩

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Both CTCF-dependent and -independent Insulators Are Found between the Mouse T Cell Receptor α and Dad1 Genes

Frédérique Magdinier , Timur M. Yusufzai , Gary Felsenfeld

Journal of Biological Chemistry, 2004, 279 (24), pp.25381-25389. ⟨10.1074/jbc.M403121200⟩

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Insulator dynamics and the setting of chromatin domains

Geneviève Fourel , Frédérique Magdinier , Eric Gilson

BioEssays, 2004, 26 (5), pp.523-532. ⟨10.1002/bies.20028⟩

Article dans une revue hal-01663885v1
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Chromatin Boundaries and Chromatin Domains

G. Felsenfeld , B. Burgess-Beusse , C. Farrell , M. Gaszner , R. Ghirlando et al.

Cold Spring Harbor Symposia on Quantitative Biology, 2004, 69, pp.245-250. ⟨10.1101/sqb.2004.69.245⟩

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MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland

Lise-Marie Billard , Frédérique Magdinier , Gilbert M. Lenoir , Lucien Frappart , Robert Dante

Oncogene, 2002, 21, pp.2704-2712. ⟨10.1038/sj.onc.1205357⟩

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Selective association of the methyl-CpG binding protein MBD2 with the silent p14/p16 locus in human neoplasia

Frédérique Magdinier , Alan P. Wolffe

Proceedings of the National Academy of Sciences of the United States of America, 2001, 98 (9), pp.4990-4995. ⟨10.1073/pnas.101617298⟩

Article dans une revue hal-01663920v1
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Regional methylation of the 5 end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells

Frédérique Magdinier , Lise-Marie Billard , Gaelle Wittmann , Lucien Frappart , Mehdi Benchai et al.

FASEB Journal, 2000, 14 (11), pp.1585-1594. ⟨10.1096/fj.99-0817com⟩

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BRCA1 expression during prenatal development of the human mammary gland

Frédérique Magdinier , Nicole Dalla Venezia , Gilbert M. Lenoir , Lucien Frappart , Robert Dante

Oncogene, 1999, 18 (27), pp.4039-4043. ⟨10.1038/sj.onc.1202780⟩

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Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region

Frédérique Magdinier , Stéphane Ribieras , Gilbert M Lenoir , Lucien Frappart , Robert Dante

Oncogene, 1998, 17 (24), pp.3169-3176. ⟨10.1038/sj.onc.1202248⟩

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ABUNDANCE OF BRCA1 TRANSCRIPTS IN HUMAN CANCER AND LYMPHOBLASTOID CELL LINES CARRYING BRCA1 GERM-LINE ALTERATIONS

Stéphane Ribieras , Frédérique Magdinier , Delphine Leclerc , Gilbert M. Lenoir , Lucien Frappart et al.

International Journal of Cancer, 1997, 73 (5), pp.715-718. ⟨10.1002/(SICI)1097-0215(19971127)73:5<715::AID-IJC17>3.0.CO;2-4⟩

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Combination of laser assisted bio-printing and laser structuration for the creation of bio-models

Lucas Duvert , Clarissa Murru , Stefano Testa , Adrien Casanova , Frédérique Magdinier et al.

Colloque annuel MARMARA, Jun 2023, Marseille, France

Communication dans un congrès hal-04792946v1

First approach assessment of laser-synthesized Si nanoparticles: effects on stem cells model for potential tissue engineering application

Clarissa Murru , Stefano Testa , Lucas Duvert , Adrien Casanova , Frédérique Magdinier et al.

NanoBio International Conference on Nanotechnologies & Bionanoscienc, FORTH and Hellenic Mediterranean University, Sep 2023, Heraklion, Greece

Communication dans un congrès hal-04790811v1

Laser-assisted stem cell bioprinting and polymer structuring for the creation of bio-models

Lucas Duvert , Clarissa Murru , Stefano Testa , Adrien Casanova , Frédérique Magdinier et al.

2nd International Conference on Nanotechnologies and Bionanoscience “NanoBio 2023”, FORTH and Hellenic Mediterranean University, Sep 2023, Heracklion, Greece

Communication dans un congrès hal-04790871v1

Laser-assisted bioprinting and structuring for muscle modeling

Lucas Duvert , Clarissa Murru , Stefano Testa , Adrien Casanova , Frédérique Magdinier et al.

20th Interuniversity Institute of Myology Meeting 2023, Oct 2023, Assisi, Italy

Communication dans un congrès hal-04792988v1
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Meeting report: The 2022 FSHD International Research Congress

Doris Leung , June Kinoshita , Jamshid Arjomand , Julie Dumonceaux , Jamshid Arjomand et al.

The 2022 FSHD International Research Congress, Jun 2022, ORLANDO, Florida, United States. pp.196-198, ⟨10.1016/j.nmd.2022.12.005⟩

Communication dans un congrès hal-03960053v1
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Optimization of the laser-induced forwatd transfer process for the printing of living cells

Adrien Casanova , Lucas Duvert , Jérôme Robin-Ducellier , Frédérique Magdinier , Philippe Delaporte et al.

E-MRS spring Meeting, Symposium Q, May 2022, virtual conference, France

Communication dans un congrès hal-03842321v1
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Combination of two laser processes for the creation of relevant bio-models for therapeutical applications

Lucas Duvert , Adrien Casanova , Jérôme Robin-Ducellier , Frédérique Magdinier , Philippe Delaporte et al.

Symposium annuel MARMARA, Jun 2022, Marseille, France

Communication dans un congrès hal-03842354v1

Laser-Induced printing of stem cells: a powerful tool for biological applications

Adrien Casanova , Lucas Duvert , Jérôme Robin , Frédérique Magdinier , Philippe Delaporte et al.

4th International conference on 3D printing & bioprinting, Al, Digital manufacturing & additive manufacturing, Jul 2021, Thessaloniki, Greece

Communication dans un congrès hal-03543363v1

SIRT1 Deficiency in endothelial progenitor cells drives pro-senescent microparticles release through MKK6 upregulation

Anne-Line A-L Chateau , Stephanie Simoncini , N Baschet , Stephane Robert , L Ligi et al.

ISTH 2016 SSC, May 2016, MONTPELLIER, France. pp.139

Communication dans un congrès hal-01463803v1
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DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

M Ferreboeuf , V. Mariot , B. Bessières , A Vasiljevic , Tania Attié-Bitach et al.

18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩

Communication dans un congrès hal-01907613v1
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Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD

Natacha Broucqsault , Stéphane Roche , Julia Morere , Marie-Cécile Gaillard , Nicolas Levy et al.

18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.824, ⟨10.1016/j.nmd.2013.06.643⟩

Communication dans un congrès hal-01907599v1

The D4Z4 subtelomeric element behaves as a CTCF-dependent insulator and anchors telomeres to the nuclear periphery.

Sylvie Rival-Gervier , Alexandre Ottaviana , Andrea M. Foerster , Eric Gilson , Frédérique Magdinier

11. Congres International de la "World Muscle Society", Oct 2006, Bruges, Belgium. 1p

Communication dans un congrès hal-02816093v1
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High repetition rate laser-induced prinitng of biopolymers: time-resolvestudy of multiple jet dynamics

Lucas Duvert , Adrien Casanova , Jérôme Robin-Ducellier , Frédérique Magdinier , Anne Patricia Alloncle

E-MRS spring Meeting, Symposium Q, May 2022, virtual conference, France

Poster de conférence hal-03842335v1

L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.

Karine Nguyen , Francesca Puppo , Natacha Broucqsault , Stéphane Roche , Charlene Chaix et al.

9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. , 2018

Poster de conférence hal-01695264v1

DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy

Marie-Cécile Gaillard , Camille Dion , Francesca Puppo , Marc Bartoli , Karine N'Guyen et al.

EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany

Poster de conférence hal-01676426v1

DIRECT AND EFFICIENT DERIVATION OF SKELETAL MUSCLE CELLS FROM HUMAN INDUCED PLURIPOTENT STEM CELLS

Cherif Badja , Marie-Cécile Gaillard , Claire El-Yazidi , Marc Bartoli , Stéphane Roche et al.

International Society For Stem Cell Research - Annual Meeting, Jun 2015, Stockholm, Sweden.

Poster de conférence hal-01676453v1

Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy

Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Salort-Campana et al.

13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015

Poster de conférence hal-01688694v1

3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC

Camille Dion , Marie-Cécile Gaillard , Arnaud Lagarde , Cherif Badja , Armand Tasmadjian et al.

EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany

Poster de conférence hal-01675614v1

Analyses de profils épigénétiques dans la dystrophie facio-scapulo-humérale : de la méthylation de l’ADN vers des corrélations génotype-phénotype

Marie-Cécile Gaillard , Natacha Broucqsault , C Chaix , C Vovan , Stéphane Roche et al.

Xeme Journées Annuelles de la Société Francaise de Myologie & Colloque de Myogenèse, Nov 2012, Grenoble, France. , 2012

Poster de conférence hal-01688662v1