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Telomere Position Effect‐Over Long Distances Acts as a Genome‐Wide Epigenetic Regulator Through a Common Alu Element
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Article dans une revue
hal-04990203
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Laser-induced forward transfer in picosecond regime for cell bioprinting
Lucas Duvert
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Article dans une revue
hal-05016640
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Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
Julien van Gils
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Article dans une revue
hal-04930442
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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
Emiliano Giardina
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Article dans une revue
hal-04930460
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The HUSH epigenetic repressor complex silences PML nuclear body- associated HSV-1 quiescent genomes
Simon Roubille
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Article dans une revue
hal-04930430
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Assessment of laser-synthesized Si nanoparticle effects on myoblast motility, proliferation and differentiation: towards potential tissue engineering applications
Clarissa Murru
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P. Alloncle
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Article dans une revue
hal-04530457
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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
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Pierre Lindenbaum
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Lorcan Lamy de La Chapelle
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Article dans une revue
hal-04930436
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Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis
Maria Sol Jacome Burbano
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Jerome D. Robin
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Serge Bauwens
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Emma Donati
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Article dans une revue
hal-04254202
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Complex 4q35 and 10q26 Rearrangements
Megane Delourme
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Chaix Charlene
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Article dans une revue
hal-04111930
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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
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Raphaël Chevalier
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Camille Dion
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Article dans une revue
hal-04134959
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A novel extrusion-based 3D bioprinting system for skeletal muscle tissue engineering
E Fornetti
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Article dans une revue
hal-03974646
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models
Laetitia Dard
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Pauline Esteves
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Wendy Blanchard
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Ghina Bou About
et al.
Article dans une revue
hal-03780356
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Joining mainstream research on Facioscapulohumeral Dystophy: disease prevalence in China
Frédérique Magdinier
Article dans une revue
hal-03587013
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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
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Valerie Delecourt
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Elva-María Novoa-Del-Toro
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Jérôme Robin-Ducellier
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Coraline Airault
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Article dans une revue
hal-03788582
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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
María del Carmen Ortuño-Costela
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Inés García-Consuegra
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Camille Laberthonnière
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Article dans une revue
hal-04039822
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miR-140-5p and miR-140-3p: Key Actors in Aging-Related Diseases?
Léa Toury
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Diane Frankel
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Coraline Airault
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Frédérique Magdinier
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Patrice Roll
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Article dans une revue
hal-03821881
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Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication
Sophie A. Nothof
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Frédérique Magdinier
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Julien Van-Gils
Article dans une revue
(article de synthèse)
hal-03678849
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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
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Camille Laberthonnière
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Stefano Testa
,
Leslie Caron
,
Frédérique Magdinier
Article dans une revue
hal-04033677
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HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring
Shifeng Xue
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Thanh Thao Nguyen Ly
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Raunak S. Vijayakar
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Jingyi Chen
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Joel Ng
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Article dans une revue
hal-03780350
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Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres
Camille Laberthonnière
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Elva-María Novoa-Del-Toro
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Mégane Delourme
,
Raphaël Chevalier
,
Natacha Broucqsault
et al.
Article dans une revue
hal-03586975
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite
Camille Dion
,
Stéphane Roche
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Camille Laberthonnière
,
Natacha Broucqsault
,
Virginie Mariot
et al.
Article dans une revue
hal-02002680
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Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging
Jean Philippe Trani
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Raphaël Chevalier
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Leslie Caron
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Claire El Yazidi
,
Natacha Broucqsault
et al.
Article dans une revue
hal-04034056
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Dystrophie musculaire facio-scapulo-humérale
Frédérique Magdinier
,
Benjamin Ganne
,
Mégane Delourme
,
Karine Nguyen
,
Rafaelle Bernard
Article dans une revue
hal-03960116
v1
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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
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Elva-María Novoa-Del-Toro
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Raphaël Chevalier
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Natacha Broucqsault
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Vanitha Venkoba Rao
et al.
Article dans une revue
hal-03280671
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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Julien van Gils
,
Frédérique Magdinier
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Patricia Fergelot
,
Didier Lacombe
Article dans une revue
hal-03280646
v1
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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
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David Grojo
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Christoph Drouet
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Alexandros Mouskeftaras
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Philippe Delaporte
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Article dans une revue
hal-03167757
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A multi-objective genetic algorithm to find active modules in multiplex biological networks
Elva-María Novoa-Del-Toro
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Efrén Mezura-Montes
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Matthieu Vignes
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Morgane Térézol
,
Frédérique Magdinier
et al.
Article dans une revue
hal-03372492
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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
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Farzad Fatehi
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Sadia Beloribi-Djefaflia
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Stéphane Roche
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Karine Nguyen
et al.
Article dans une revue
hal-02533845
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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Ana Nikolic
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Takako Jones
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Monica Govi
,
Fabiano Mele
,
Louise Maranda
et al.
Article dans une revue
hal-03142878
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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells
Kilian Mazaleyrat
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Cherif Badja
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Natacha Broucqsault
,
Raphaël Chevalier
,
Camille Laberthonnière
et al.
Article dans une revue
hal-03080368
v1
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Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime
Jérôme Robin-Ducellier
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Maria‐sol Jacome Burbano
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Han Peng
,
Olivier Croce
,
Jean Luc Thomas
et al.
Article dans une revue
hal-03080383
v1
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Does DNA Methylation Matter in FSHD?
Valentina Salsi
,
Frédérique Magdinier
,
Rossella Tupler
Article dans une revue
hal-02503971
v1
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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.
Article dans une revue
hal-02140159
v1
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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.
Article dans une revue
hal-01951503
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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.
Article dans une revue
hal-02407527
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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.
Article dans une revue
hal-02406985
v1
|
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26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19–20 June 2019
June Kinoshita
,
Frédérique Magdinier
,
George Padberg
Article dans une revue
hal-02332748
v1
|
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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-02352628
v1
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Bring It to an End: Does Telomeres Size Matter?
Camille Laberthonnière
,
Frédérique Magdinier
,
Jérôme Robin-Ducellier
Article dans une revue
hal-01992677
v1
|
|
DNA methylation in satellite repeats disorders
Claire Francastel
,
Frédérique Magdinier
Article dans une revue
hal-02264755
v1
|
|
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.
Article dans une revue
hal-02140150
v1
|
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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.
Article dans une revue
hal-01663685
v1
|
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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.
Article dans une revue
hal-01617529
v1
|
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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.
Article dans une revue
hal-01614514
v1
|
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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.
Article dans une revue
hal-01378417
v1
|
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Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge
Jérôme Robin-Ducellier
,
Frédérique Magdinier
Article dans une revue
hal-01663651
v1
|
|
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.
Article dans une revue
hal-01663663
v1
|
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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.
Article dans une revue
hal-01219803
v1
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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.
Article dans une revue
hal-01610016
v1
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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.
Article dans une revue
hal-01431338
v1
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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.
Article dans une revue
hal-01663628
v1
|
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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.
Article dans une revue
hal-01662841
v1
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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.
Article dans une revue
hal-01610019
v1
|
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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.
Article dans une revue
hal-01666068
v1
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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.
Article dans une revue
hal-01663660
v1
|
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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.
Article dans une revue
hal-01617538
v1
|
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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.
Article dans une revue
hal-01663630
v1
|
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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.
Article dans une revue
hal-00862092
v1
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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.
Article dans une revue
hal-00868855
v1
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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.
Article dans une revue
hal-01662672
v1
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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.
Article dans une revue
pasteur-00974843
v1
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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.
Article dans une revue
hal-03013767
v1
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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.
Article dans une revue
ensl-00815016
v1
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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
Article dans une revue
ensl-00817412
v1
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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
Article dans une revue
ensl-00815661
v1
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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
Article dans une revue
ensl-00815144
v1
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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.
Article dans une revue
ensl-00817706
v1
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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-00817391
v1
|
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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.
Article dans une revue
hal-01663636
v1
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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.
Article dans une revue
hal-00851248
v1
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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.
Article dans une revue
hal-01663788
v1
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Telomeric position effect: From the yeast paradigm to human pathologies?
Alexandre Ottaviani
,
Eric Gilson
,
Frédérique Magdinier
Article dans une revue
hal-01663623
v1
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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-02655069
v1
|
|
Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus
Emilie Auriol
,
Lise-Marie Billard
,
Frédérique Magdinier
,
Robert Dante
Article dans une revue
hal-01663899
v1
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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.
Article dans une revue
hal-01663916
v1
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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
Article dans une revue
hal-01663904
v1
|
|
Insulator dynamics and the setting of chromatin domains
Geneviève Fourel
,
Frédérique Magdinier
,
Eric Gilson
Article dans une revue
hal-01663885
v1
|
|
Chromatin Boundaries and Chromatin Domains
G. Felsenfeld
,
B. Burgess-Beusse
,
C. Farrell
,
M. Gaszner
,
R. Ghirlando
et al.
Article dans une revue
hal-01663828
v1
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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
Article dans une revue
hal-01663809
v1
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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⟩
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ABUNDANCE OF BRCA1 TRANSCRIPTS IN HUMAN CANCER AND LYMPHOBLASTOID CELL LINES CARRYING BRCA1 GERM-LINE ALTERATIONS
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