المؤلفون: Jérôme D. Robin, Frédérique Magdinier

المصدر: Handbook of Epigenetics ISBN: 9780323919098

مصطلحات موضوعية: 0301 basic medicine, Genetics, Euchromatin, Biology, Position-effect variegation, Genome, Chromatin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Position effect, Evolutionary biology, Epigenetics, Scaffold/matrix attachment region, 030217 neurology & neurosurgery, ChIA-PET

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2000c0ed17063f775bbbfb75c76041c3Test
https://doi.org/10.1016/b978-0-323-91909-8.00003-7Test

المؤلفون: Bruno Reversade, Anaïs Baudot, Jean Philippe Trani, Frédérique Magdinier, Shifeng Xue, Karine Nguyen, Jérôme D. Robin, Vanitha Venkoba Rao, Elva Maria Novoa-Del-Toro, Camille Laberthonnière, Raphaël Chevalier, Natacha Broucqsault

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Reversade, Bruno, Laberthonnière, C., Novoa-Del-Toro, E. M., Chevalier, R., Broucqsault, N., Rao, V. V., Trani, J. P., Nguyen, K., Xue, S., Robin, J. D., Baudot, A., Magdinier, F., School of Medicine, ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development

المصدر: Biomedicines
Volume 9
Issue 7
Biomedicines, MDPI, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩
Biomedicines, Vol 9, Iss 751, p 751 (2021)
Biomedicines, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩
Biomedicines, 9(7):751. MDPI AG

مصطلحات موضوعية: QH301-705.5, [SDV]Life Sciences [q-bio], Medicine (miscellaneous), Biology, medicine.disease_cause, Microphthalmia, General Biochemistry, Genetics and Molecular Biology, Article, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, medicine, RNA-Seq, Biology (General), Induced pluripotent stem cell, Protein kinase B, Biochemistry, Molecular biology, Research and experimental medicine, Pharmacology, Pharmacy, 030304 developmental biology, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Bosma Arhinia and Microphthalmia Syndrome, SMCHD1, Neural crest, medicine.disease, Phenotype, Cell biology, Induced pluripotent stem cells, Facio Scapulo Humeral Dystrophy, RNA-Seqneural crest stem cells, Systems biology, Stem cell, Neural crest stem cells, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf; text/academic publication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0adb94ab76a315ee460ccb96f965a57bTest
http://www.scopus.com/inward/record.url?scp=85109493277&partnerID=8YFLogxKTest

المؤلفون: Sabrina Sacconi, Liudmyla Lototska, Laurent Schaeffer, Jérôme D. Robin, Camille Laberthonnière, Mélanie Pousse, Eric Gilson, Jean Luc Thomas, Waiian Leong, Jing Ye, Frédérique Magdinier, Serge Bauwens, Valérie M. Renault, Florent Tessier, Olivier Croce, Han Peng, Maria‐Sol Jacome Burbano

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, INSB-INSB-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie Moléculaire de la Cellule (LBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (1965 - 2019) (UNS)

المصدر: Aging Cell
Aging Cell, Wiley Open Access, 2020, 19 (3), ⟨10.1111/acel.13097⟩
Aging Cell, 2020, 19 (3), ⟨10.1111/acel.13097⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Muscle Fibers, Skeletal, Mitochondrion, Mice, 0302 clinical medicine, Sirtuin 3, Telomeric Repeat Binding Protein 2, Cells, Cultured, Telomere Shortening, ComputingMilieux_MISCELLANEOUS, Mice, Knockout, Myogenesis, Middle Aged, Telomere, Mitochondria, Cell biology, medicine.anatomical_structure, Gene Knockdown Techniques, Sirtuin, Female, Original Article, Signal Transduction, Adult, Senescence, Adolescent, SIRT3, Down-Regulation, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Young Adult, 03 medical and health sciences, Downregulation and upregulation, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, skeletal muscle, Aged, Skeletal muscle, Original Articles, Cell Biology, postmitotic cells, telomeres, 030104 developmental biology, biology.protein, Reactive Oxygen Species, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb9910e6423df001a9241178d92e04d4Test
https://hal-amu.archives-ouvertes.fr/hal-03080383Test

المؤلفون: Camille Laberthonnière, Marie-Cécile Gaillard, Natacha Broucqsault, Cherif Badja, Stéphane Roche, Jérôme D. Robin, Julia Morere, Karine Nguyen, Frédérique Magdinier, Camille Dion

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, ⟨10.1038/s41598-019-46861-x⟩
Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Male, Chromosomal Proteins, Non-Histone, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Gene Expression, lcsh:Medicine, Diseases, Pathogenesis, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], 0302 clinical medicine, Gene expression, lcsh:Science, In Situ Hybridization, Fluorescence, Genetics, 0303 health sciences, Middle Aged, Cadherins, Subtelomere, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Epigenetics, Female, Chromosomes, Human, Pair 4, Adult, Adolescent, Induced Pluripotent Stem Cells, Locus (genetics), Biology, Chromatin structure, Article, Young Adult, 03 medical and health sciences, Imaging, Three-Dimensional, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, Muscle, Skeletal, Gene, Aged, 030304 developmental biology, lcsh:R, Infant, Dystrophy, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Fibroblasts, Chromosome 4, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Case-Control Studies, Mutation, lcsh:Q, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd636a86000d8f6d6952d1613d637c7Test
https://hal.archives-ouvertes.fr/hal-01951503v2/documentTest

المؤلفون: Camille Laberthonnière, Frédérique Magdinier, Jérôme D. Robin

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Cells
Cells, MDPI, 2019, 8 (1), pp.30. ⟨10.3390/cells8010030⟩
Cells, 2019, 8 (1), pp.30. ⟨10.3390/cells8010030⟩
Cells, Vol 8, Iss 1, p 30 (2019)

مصطلحات موضوعية: Senescence, Aging, TPE, [SDV]Life Sciences [q-bio], ved/biology.organism_classification_rank.species, Review, Biology, Genome, Epigenesis, Genetic, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Transcription (biology), Animals, Humans, TPE-OLD, Model organism, lcsh:QH301-705.5, Mitosis, Cellular Senescence, Telomere Shortening, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, telomere, ved/biology, Telomere Homeostasis, TERRA, General Medicine, Telomere, Cell biology, Position effect, lcsh:Biology (General), chemistry, 030217 neurology & neurosurgery, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2bbb5fe8f42f2a1254f95203927c4e6Test
https://pubmed.ncbi.nlm.nih.gov/30626097Test

المؤلفون: Vincent Tiffreau, Albert David, Jon Andoni Urtizberea, Charlene Chaix, Emmanuelle Salort-Campana, Rafaëlle Bernard, Sabrina Sacconi, Karine Nguyen, André Mégarbané, Fabien Zagnoli, Natacha Broucqsault, Jérôme D. Robin, Shahram Attarian, Frédérique Magdinier, Jean-Marie Cuisset, Véronique Manel, Laurene Gerard, Bruno Eymard, Stéphane Roche, Catherine Vovan, Mélanie Fradin, Nicolas Lévy, Christine Barnerias, Rémi Bellance

المساهمون: Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM), Unité de Génétique Médicale, Université Saint-Joseph de Beyrouth (USJ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], MLab, Dauphine Recherches en Management (DRM), Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Service epilepsie sommeil et explorations fonctionnelles neuropédiatriques (HFME), Hospices Civils de Lyon (HCL)-Université de Lyon, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Activité Physique, Muscle, Santé (EA4488), Université de Lille, Droit et Santé, Service de Neurologie [Brest], Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Maladies Neuromusculaires de l'Enfant, Hôpital Roger Salengro [Lille], Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Roche, Stephane, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2018-105949⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2018-105949⟩

مصطلحات موضوعية: 0301 basic medicine, Genotype, Genetic counseling, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Locus (genetics), Biology, subtelomeres, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Homology (biology), 03 medical and health sciences, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene duplication, molecular combing, smchd1, Genetics, Humans, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Genetic Association Studies, Chromosomes, Human, Pair 10, Haplotype, facio scapulo humeral dystrophy, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Dystrophy, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Telomere, Subtelomere, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic Loci, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Chromosome Deletion, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91b6d947b729bafe9ca7dad31ad10ddbTest
https://pubmed.ncbi.nlm.nih.gov/31010831Test

المؤلفون: Jerry W. Shay, Fedik Rahimov, Oliver D. King, Charles P. Emerson, Kathryn R. Wagner, Jérôme D. Robin, Jennifer C. J. Chen, Woodring E. Wright, Guido Stadler

المصدر: Nature structural & molecular biology

مصطلحات موضوعية: musculoskeletal diseases, Senescence, Telomerase, muscle, Biology, Article, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, telomere shortening, DUX4, Structural Biology, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Molecular Biology, Cells, Cultured, 030304 developmental biology, Homeodomain Proteins, Genetics, Regulation of gene expression, 0303 health sciences, D4Z4 repeats, aging, Telomere, medicine.disease, Phenotype, Muscular Dystrophy, Facioscapulohumeral, Up-Regulation, Cell biology, chromosome 4q, Gene Expression Regulation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee0808d752160d36c5aace1f3bf5e72Test
https://doi.org/10.1038/nsmb.2571Test

المؤلفون: Jerry W. Shay, Woodring E. Wright, Kimberly Batten, Andrew T. Ludlow, Marie Cécile Gaillard, Frédérique Magdinier, Jérôme D. Robin, Guido Stadler

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Cell Biology, University of Texas Southwestern Medical Center [Dallas], University of Texas Southwestern Medical Center (UTSW), Magdinier, Frederique

المصدر: Genome Research
Genome Research, Cold Spring Harbor Laboratory Press, 2015, 25 (12), pp.1781-1790. ⟨10.1101/gr.190660.115⟩
Genome Research, 2015, 25 (12), pp.1781-1790. ⟨10.1101/gr.190660.115⟩

مصطلحات موضوعية: Transcriptional Activation, Biopsy, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Myoblasts, Chromosome conformation capture, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscle, Skeletal, Enhancer, In Situ Hybridization, Fluorescence, Telomere Shortening, Genetics (clinical), Adaptor Proteins, Signal Transducing, MyoD Protein, 030304 developmental biology, Homeodomain Proteins, Regulation of gene expression, Muscle Cells, 0303 health sciences, Myogenesis, Research, RNA-Binding Proteins, Epistasis, Genetic, DNA Methylation, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Chromatin, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic Loci, DNA methylation, Chromosome Deletion, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082cfb8d84c6847842d29630ff57761eTest
https://hal-amu.archives-ouvertes.fr/hal-01663663/documentTest

المؤلفون: Guido Stadler, Jerry W. Shay, Woodring E. Wright, Oliver D. King, Jérôme D. Robin

المصدر: Rare Diseases

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, DUX4, Compound heterozygosity, compound heterozygotes, 03 medical and health sciences, 0302 clinical medicine, Medicine, Facioscapulohumeral muscular dystrophy, Myopathy, D4Z4 contractions, 030304 developmental biology, Genetics, 0303 health sciences, multifactorial, business.industry, Haplotype, General Engineering, Skeletal muscle, Complex genetics, medicine.disease, Telomere, Addendum, medicine.anatomical_structure, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab37bc545d4bd4280dfc4c9862e5380Test
https://pubmed.ncbi.nlm.nih.gov/25003004Test

المؤلفون: Kathryn R. Wagner, Jennifer C. J. Chen, Jerry W. Shay, Guido Stadler, Jérôme D. Robin, Charles P. Emerson, Woodring E. Wright

المصدر: Skeletal Muscle, Vol 1, Iss 1, p 12 (2011)
Skeletal Muscle

مصطلحات موضوعية: Cell type, Telomerase, lcsh:Diseases of the musculoskeletal system, Population, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Myocyte, Facioscapulohumeral muscular dystrophy, Orthopedics and Sports Medicine, Telomerase reverse transcriptase, Myopathy, education, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, education.field_of_study, Research, Cell Biology, medicine.disease, Telomere, Cell biology, lcsh:RC925-935, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32af159451b8735ba5533f52b795e2ccTest
https://doi.org/10.1186/2044-5040-1-12Test