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TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure

 Barbara Poszewiecka , Victor Murcia Pienkowski , Karol Nowosad , Jérôme Robin-Ducellier , Krzysztof Gogolewski , et al.
Nucleic Acids Research, 2022, 50 (W1), pp.W744-W752. ⟨10.1093/nar/gkac318⟩
Article dans une revue hal-03780230v1

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome

 Camille Laberthonnière , Raphaël Chevalier , Camille Dion , Mégane Delourme , David Hirst , et al.
2022
Pré-publication, Document de travail hal-03634209v1

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
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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

NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells

 Mohammed E. Sayed , Laura Yuan , Jérôme Robin-Ducellier , Enzo Tedone , Kimberly Batten , et al.
Oncogene, 2019, 38 (16), pp.2937-2952. ⟨10.1038/s41388-018-0639-8⟩
Article dans une revue hal-02461455v1
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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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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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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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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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Recherche et étude de transitions de liaison entre les puits super- et normalement déformés dans le noyau 151Tb

 Jérôme Robin
Physique Nucléaire Expérimentale [nucl-ex]. Université Louis Pasteur - Strasbourg I, 2003. Français. ⟨NNT : ⟩
Thèse tel-00005073v1
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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

NOVA1 regulates hTERT splicing and cell growth in non-small cell lung cancer

 Andrew T. Ludlow , Mandy Sze Wong , Jérôme Robin-Ducellier , Kimberly Batten , Laura Yuan , et al.
Nature Communications, 2018, 9
Article dans une revue hal-01991348v1

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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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
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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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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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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
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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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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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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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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

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), ⟨10.1111/acel.13097⟩
Article dans une revue hal-03080383v1

Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments

 Karine Nguyen , Jérôme Robin-Ducellier
JAMA Network Open, 2020, 3 (5), pp.e205004. ⟨10.1001/jamanetworkopen.2020.5004⟩
Article dans une revue hal-03080379v1
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C-HiC: A High-Resolution Method for Unbiased Chromatin Conformation Capture Targeting Small Locus

 Jérôme Robin-Ducellier
Capturing Chromosome Conformation, pp.85-102, 2021, ⟨10.1007/978-1-0716-0664-3_6⟩
Chapitre d'ouvrage hal-03080361v1
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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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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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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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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 , Christoph 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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