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المؤلفون: Camille, Laberthonnière, Elva-Maria, Novoa-Del-Toro, Mégane, Delourme, Raphaël, Chevalier, Natacha, Broucqsault, Kilian, Mazaleyrat, Nathalie, Streichenberger, Véronique, Manel, Rafaëlle, Bernard, Emmanuelle, Salort Campana, Shahram, Attarian, Karine, Nguyen, Jérôme D, Robin, Anais, Baudot, Frédérique, Magdinier
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), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), 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), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hôpital de la Timone [CHU - APHM] (TIMONE), Gall, Valérie
المصدر: Journal of Cachexia, Sarcopenia and Muscle
Journal of Cachexia, Sarcopenia and Muscle, 2022, 13 (1), pp.621-635. ⟨10.1002/jcsm.12835⟩
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 621-635 (2022)مصطلحات موضوعية: Sarcomeres, System biology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Muscle Fibers, Skeletal, QM1-695, Sarcomere, Diseases of the musculoskeletal system, Facioscapulohumeral dystrophy, Pathophysiology, Muscular Dystrophy, Facioscapulohumeral, Induced pluripotent stem cells, RC925-935, Muscle contraction, Human anatomy, Humans, Muscle weakening, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c2cb0a941dee1602dd4660c07911ebcTest
https://hal-amu.archives-ouvertes.fr/hal-03586975Test -
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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 -
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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 -
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المؤلفون: Woodring E. Wright, Laura Yuan, Kimberly Batten, Andrew T. Ludlow, Nicole Dahlson, Mohammed E. Sayed, Jerry W. Shay, Jérôme D. Robin, Enzo Tedone
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), University of Texas Southwestern Medical Center (UTSW)
المصدر: Oncogene
Oncogene, Nature Publishing Group, 2019, 38 (16), pp.2937-2952. ⟨10.1038/s41388-018-0639-8⟩مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Telomerase, NOVA1, RNA Splicing, Biology, telomerase, Heterogeneous-Nuclear Ribonucleoproteins, Article, Cell Line, 03 medical and health sciences, Splicing factor, alternative splicing, 0302 clinical medicine, Cell Line, Tumor, Neoplasms, Neuro-Oncological Ventral Antigen, Genetics, RNA Precursors, Humans, cancer, Telomerase reverse transcriptase, RNA, Messenger, Molecular Biology, Gene knockdown, [SDV.GEN]Life Sciences [q-bio]/Genetics, Alternative splicing, RNA-Binding Proteins, PTBP1, HCT116 Cells, 3. Good health, Telomere, Cell biology, 030104 developmental biology, HEK293 Cells, A549 Cells, 030220 oncology & carcinogenesis, RNA splicing, hTERT, HeLa Cells, Polypyrimidine Tract-Binding Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68bb8459da91922fd638726d205ab811Test
https://hal-amu.archives-ouvertes.fr/hal-02461455Test -
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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 -
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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 -
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المؤلفون: Kimberly Batten, Jerry W. Shay, Ilgen Mender, Nicole Dahlson, Woodring E. Wright, Tsung Po Lai, Lu Zhang, Mandy S. Wong, Andrew T. Ludlow, Jérôme D. Robin, Enzo Tedone, Mohammed E. Sayed, Laura Yuan
المساهمون: 6Department of Cell Biology, UT Southwestern Medical Center, Dallas, TX, USA, Gall, Valérie
المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)مصطلحات موضوعية: 0301 basic medicine, Telomerase, Lung Neoplasms, General Physics and Astronomy, Exon, Mice, Carcinoma, Non-Small-Cell Lung, RNA, Small Interfering, lcsh:Science, Gene knockdown, Multidisciplinary, RNA-Binding Proteins, Telomere, 3. Good health, Phenotype, RNA splicing, embryonic structures, biological phenomena, cell phenomena, and immunity, Genetic Engineering, Protein Binding, Science, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Cell Line, Tumor, Neuro-Oncological Ventral Antigen, Animals, Humans, Telomerase reverse transcriptase, Gene Silencing, neoplasms, Genome, Human, Alternative splicing, Computational Biology, General Chemistry, enzymes and coenzymes (carbohydrates), Alternative Splicing, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Cancer research, lcsh:Q, Gene Deletion, Neoplasm Transplantation, Minigene, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b182059f30504c1981a1bfa60707d2Test
https://hal-amu.archives-ouvertes.fr/hal-01991348Test -
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المؤلفون: Woodring E. Wright, Ning Zhang, Guido Stadler, Wanil Kim, Andrew T. Ludlow, Ilgen Mender, Tsung Po Lai, Jérôme D. Robin, Jaewon Min, Jerry W. Shay
المصدر: PLoS Biology, Vol 14, Iss 12, p e2000016 (2016)
PLoS Biologyمصطلحات موضوعية: 0301 basic medicine, Primates, Telomerase, Aging, Chromosome Structure and Function, QH301-705.5, Gene Expression, Biology, Research and Analysis Methods, General Biochemistry, Genetics and Molecular Biology, Gene Expression Regulation, Enzymologic, Chromosomes, 03 medical and health sciences, Telomerase RNA component, Neoplasms, Genetics, Animals, Humans, Telomerase reverse transcriptase, Gene Regulation, Epigenetics, Biology (General), Molecular Biology Techniques, Molecular Biology, Telomere Length, Regulation of gene expression, General Immunology and Microbiology, Chromosome Biology, General Neuroscience, Biology and Life Sciences, Cell Biology, Telomere, Molecular biology, Chromatin, Cell biology, 030104 developmental biology, Telomeres, Genetic Loci, DNA methylation, Chromosomes, Human, Pair 5, General Agricultural and Biological Sciences, Research Article, Cloning
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50a30cb10846c8c726adc3a3532f122Test
https://doaj.org/article/21ec55f68c5c49bb9a0e3fdea11ca9feTest -
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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 -
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المصدر: Scientific Reports
مصطلحات موضوعية: 0301 basic medicine, Protein Denaturation, Magnetic Resonance Spectroscopy, Genotype, Library, Genomics, Molecular Dynamics Simulation, Biology, Crystallography, X-Ray, Genome, Article, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Humans, Digital polymerase chain reaction, Genotyping, Probability, Genetics, Models, Statistical, Multidisciplinary, Genome, Human, Thrombin, Multiple displacement amplification, High-Throughput Nucleotide Sequencing, Hydrogen Bonding, DNA, Markov Chains, G-Quadruplexes, 030104 developmental biology, 030220 oncology & carcinogenesis, Nucleic Acid Conformation, Human genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226cdc622444d3bd4b17cc7482b7bde8Test
https://doi.org/10.1038/srep24067Test