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A novel extrusion-based 3D bioprinting system for skeletal muscle tissue engineering
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Dystrophie musculaire facio-scapulo-humérale
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite
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miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models
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Joining mainstream research on Facioscapulohumeral Dystophy: disease prevalence in China
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Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication
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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
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HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring
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miR-140-5p and miR-140-3p: Key Actors in Aging-Related Diseases?
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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
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Stefano Testa
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Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging
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A multi-objective genetic algorithm to find active modules in multiplex biological networks
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Morgane Térézol
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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
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Raphaël Chevalier
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Natacha Broucqsault
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Vanitha Venkoba Rao
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Journal articles
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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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Patricia Fergelot
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Didier Lacombe
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Short-Pulse Lasers: A Versatile Tool in Creating Novel Nano-/Micro-Structures and Compositional Analysis for Healthcare and Wellbeing Challenges
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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells
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Cherif Badja
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Raphaël Chevalier
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Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime
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Olivier Croce
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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
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Sadia Beloribi-Djefaflia
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Stéphane Roche
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Karine Nguyen
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Journal articles
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Does DNA Methylation Matter in FSHD?
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Rossella Tupler
Journal articles
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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
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Takako Jones
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Monica Govi
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Erwan Donal
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Sylvie Odent
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Jean-Christophe Eicher
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Journal articles
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Bring It to an End: Does Telomeres Size Matter?
Camille Laberthonnière
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Frédérique Magdinier
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Journal articles
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DNA methylation in satellite repeats disorders
Claire Francastel
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Frédérique Magdinier
Journal articles
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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
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Natacha Broucqsault
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Charlene Chaix
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Stéphane Roche
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Jérôme Robin-Ducellier
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Journal articles
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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
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Natacha Broucqsault
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Julia Morere
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Camille Laberthonnière
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Camille Dion
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hal-01951503v2
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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
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Frédérique Magdinier
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G. Léonetti
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C. Bartoli
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J. Chiaroni
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Journal articles
hal-02407527v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche
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Camille Dion
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Natacha Broucqsault
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Camille Laberthonnière
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Marie-Cécile Gaillard
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Journal articles
hal-02406985v1
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In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells
Chiara Uboldi
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Marcos Sanles Sobrido
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Elodie Bernard
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Virginie Tassistro
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Nanomaterials, 2019, From Basic Research to New Tools and Challenges for the Genotoxicity Testing of Nanomaterials, 9 (9), pp.1233. ⟨10.3390/nano9091233⟩
Journal articles
hal-02352628v1
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26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19–20 June 2019
June Kinoshita
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Frédérique Magdinier
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George Padberg
Journal articles
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
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Marcos Sanles Sobrido
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Elodie Bernard
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Virginie Tassistro
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Nathalie Herlin-Boime
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Journal articles
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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
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Anne-Line Château
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Stéphane Robert
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Dilyana Todorova
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Catherine Yzydorzick
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Journal articles
hal-01663685v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
Karine Nguyen
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Stéphane Roche
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Marie-Cécile Gaillard
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Charlene Chaix
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Journal articles
hal-01614514v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Christopher Gordon
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Shifeng Xue
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Gökhan Yigit
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Hicham Filali
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Kelan Chen
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Journal articles
hal-01617529v1
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Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge
Jérôme Robin-Ducellier
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Frédérique Magdinier
Journal articles
hal-01663651v1
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Marie-Cécile Gaillard
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Francesca Puppo
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Stéphane Roche
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Camille Dion
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Emmanuelle Campana Salort
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Journal articles
hal-01378417v1
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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
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Andrew T Ludlow
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Kimberly Batten
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Marie-Cécile Gaillard
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Guido Stadler
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Journal articles
hal-01663663v1
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miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies
Débora Portilho
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Marcelo Ribeiro Alves
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Gueorgui Kratassiouk
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Stéphane Roche
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Frédérique Magdinier
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Journal articles
hal-01219803v1
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype
Francesca Puppo
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Eugénie Dionnet
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Marie-Cécile Gaillard
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Pascaline Gaildrat
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Christel Castro
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Journal articles
hal-01662841v1
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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
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Karine Nguyen
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Rafaelle Bernard
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Elisabeth Jouve
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Guilhem Solé
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Journal articles
hal-01610016v1
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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy
Virginie Mariot
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S. Roche
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Débora Portilho
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Sabrina Sacconi
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Francesca Puppo
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Journal articles
hal-01431338v1
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Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia
Soraya Boushaki
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Yanis Meddour
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Koon Wing Chang
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Samia Chaib
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Journal articles
hal-01663628v1
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
Marie-Cécile Gaillard
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Stéphane Roche
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Camille Dion
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Armand Tasmadjian
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Gwenaelle Bouget
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Journal articles
hal-01610019v1
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Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances
Jérôme Robin-Ducellier
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Andrew T. Ludlow
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Kimberly Batten
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Frédérique Magdinier
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Guido Stadler
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Journal articles
hal-01663660v1
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Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression
Paula Frizera Vassallo
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Stephanie Simoncini
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Isabelle Ligi
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Anne-Line Château
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Richard Bachelier
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Journal articles
hal-01666068v1
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Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells
Amina Boussouar
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Caroline Barette
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Robert Nadon
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Adelaïde Saint-Léger
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Natacha Broucqsault
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Journal articles
hal-01617538v1
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.
Nathalie Caruso
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Balàzs Herberth
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Marc Bartoli
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Francesca Puppo
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Julie Dumonceaux
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Journal articles
hal-00862092v1
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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
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Julia Morere
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Marie-Cécile Gaillard
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Julie Dumonceaux
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Julia Torrents
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Journal articles
hal-01662672v1
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DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Maxime Ferreboeuf
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Virginie Mariot
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Bettina Bessières
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Alexandre Vasiljevic
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Tania Attié-Bitach
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Journal articles
hal-00868855v1
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Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway
Irmina Diala
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Nicole Wagner
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Frédérique Magdinier
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Marina Shkreli
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Maria Sirakov
et al.
Journal articles
hal-01663630v1
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TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner.
Alessandra Galati
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Frédérique Magdinier
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Valentina Colasanti
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Serge Bauwens
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Sébastien Pinte
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Journal articles
pasteur-00974843v1
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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.
Journal articles
hal-03013767v1
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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
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Laure-Emmanuelle Saragosi
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Claude Philippe
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Kevin Lebrigand
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Clémentine Schouteden
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Journal articles
ensl-00815016v1
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TRF2 and Apollo Cooperate with Topoisomerase 2α to Protect Human Telomeres from Replicative Damage
Jing Ye
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Christelle Lenain
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Serge Bauwens
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Angela Rizzo
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Adelaïde Saint-Léger
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Journal articles
ensl-00817706v1
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D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells
Alexandre Ottaviani
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Caroline Schluth-Bolard
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Eric Gilson
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Frédérique Magdinier
Nucleus, 2010, 1 (1), pp.30-36
Journal articles
ensl-00817391v1
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Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1
Isabelle Ourliac-Garnier
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Anaïs Poulet
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Razan Charif
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Simon Amiard
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Frédérique Magdinier
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Journal of Biological Inorganic Chemistry, 2010, 15 (5), pp.641-654
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ensl-00817412v1
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CLLD8/KMT1F Is a Lysine Methyltransferase That Is Important for Chromosome Segregation
Claire Falandry
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Vincent Galy
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Tutik Ristriani
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Journal of Biological Chemistry, 2010, 285, pp.20234-20241
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Replication Timing of Human Telomeres Is Chromosome Arm-Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization
Nausicaa Arnoult
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Anne Letessier
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Irena Drascovic
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Rachida Bouarich-Bourimi
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PLoS Genetics, 2010, 6 (4), pp.e1000920
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ensl-00815144v1
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Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF
Alexandre Ottaviani
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Caroline Schluth-Bolard
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Sylvie Rival-Gervier
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Amina Boussouar
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Delphine Rondier
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Journal articles
hal-01663788v1
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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
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Amina Boussouar
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Andrea M Foerster
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Delphine Rondier
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Journal articles
hal-01663636v1
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Global analysis of DNA methylation and transcription of human repetitive sequences.
Béatrice Horard
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Angéline Eymery
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Geneviève Fourel
,
Nikita Vassetzky
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Jacques Puechberty
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Journal articles
hal-00851248v1
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Telomeric position effect: From the yeast paradigm to human pathologies?
Alexandre Ottaviani
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Eric Gilson
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Frédérique Magdinier
Journal articles
hal-01663623v1
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Telomeric position effect: From the yeast paradigm to human pathologies?
Alexandre Ottaviani
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Eric Gilson
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Frédérique Magdinier
Biochimie, 2007, 90 (1), pp.93-107
Journal articles
hal-02655069v1
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The Human Enhancer Blocker CTC-binding Factor Interacts with the Transcription Factor Kaiso
Pierre-Antoine Defossez
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Kevin F. Kelly
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Guillaume J. P. Filion
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Roberto Pérez-Torrado
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Frédérique Magdinier
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Journal articles
hal-01663916v1
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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
Journal articles
hal-01663899v1
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Chromatin Boundaries and Chromatin Domains
G. Felsenfeld
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B. Burgess-Beusse
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C. Farrell
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M. Gaszner
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R. Ghirlando
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Journal articles
hal-01663828v1
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Insulator dynamics and the setting of chromatin domains
Geneviève Fourel
,
Frédérique Magdinier
,
Eric Gilson
Journal articles
hal-01663885v1
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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 articles
hal-01663904v1
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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
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Robert Dante
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Journal articles
hal-01663809v1
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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⟩
Journal articles
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
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Gaelle Wittmann
,
Lucien Frappart
,
Mehdi Benchai
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Journal articles
hal-01663881v1
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BRCA1 expression during prenatal development of the human mammary gland
Frédérique Magdinier
,
Nicole Dalla Venezia
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Gilbert M. Lenoir
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Lucien Frappart
,
Robert Dante
et al.
Journal articles
hal-01663803v1
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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
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Lucien Frappart
,
Robert Dante
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Journal articles
hal-01663794v1
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ABUNDANCE OF BRCA1 TRANSCRIPTS IN HUMAN CANCER AND LYMPHOBLASTOID CELL LINES CARRYING BRCA1 GERM-LINE ALTERATIONS
Stéphane Ribieras
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Frédérique Magdinier
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Delphine Leclerc
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Gilbert M. Lenoir
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Lucien Frappart
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Journal articles
hal-01663921v1
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