يعرض 1 - 10 نتائج من 28 نتيجة بحث عن '"Natacha Broucqsault"', وقت الاستعلام: 1.37s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

    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

    المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 621-635 (2022)

    مصطلحات موضوعية: Facioscapulohumeral dystrophy, Induced pluripotent stem cells, System biology, Pathophysiology, Sarcomere, Muscle contraction, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test

    الوصول الحر: https://doaj.org/article/8f932ee1e4384c53a16531a5f4c02563Test

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome

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

    المصدر: Biomedicines, Vol 9, Iss 7, p 751 (2021)

    مصطلحات موضوعية: SMCHD1, Bosma Arhinia and Microphthalmia Syndrome, Facio Scapulo Humeral Dystrophy, RNA-Seq, neural crest stem cells, induced pluripotent stem cells, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2227-9059/9/7/751Test; https://doaj.org/toc/2227-9059Test

    الوصول الحر: https://doaj.org/article/a79f48bb80374f30b99138b221ba7b8eTest

    View record in DOAJ النص الكامل

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  3. 3
    دورية أكاديمية
    Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells

    المؤلفون: Kilian Mazaleyrat, Cherif Badja, Natacha Broucqsault, Raphaël Chevalier, Camille Laberthonnière, Camille Dion, Lyla Baldasseroni, Claire El-Yazidi, Morgane Thomas, Richard Bachelier, Alexandre Altié, Karine Nguyen, Nicolas Lévy, Jérôme D. Robin, Frédérique Magdinier

    المصدر: Cells, Vol 9, Iss 6, p 1531 (2020)

    مصطلحات موضوعية: human induced pluripotent cells, differentiation, myoblasts, myotubes, motor neurons, satellite cells, Cytology, QH573-671

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2073-4409/9/6/1531Test; https://doaj.org/toc/2073-4409Test

    الوصول الحر: https://doaj.org/article/8d061bb2ffea436e998913b85cd1c2afTest

    View record in DOAJ النص الكامل

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  4. 4
    دورية أكاديمية
    Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells

    المؤلفون: Amina Boussouar, Caroline Barette, Robert Nadon, Adelaïde Saint-Léger, Natacha Broucqsault, Alexandre Ottaviani, Arva Firozhoussen, Yiming Lu, Laurence Lafanechère, Eric Gilson, Frédérique Magdinier, Jing Ye

    المصدر: Molecular Therapy: Nucleic Acids, Vol 2, Iss C (2013)

    مصطلحات موضوعية: DNA damage response, flavanoid, polyphenol, telomere, telomeric position effect, telomere-induced foci, Therapeutics. Pharmacology, RM1-950

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253116301743Test; https://doaj.org/toc/2162-2531Test

    الوصول الحر: https://doaj.org/article/236524645f794b94a7fa5a681cdfde93Test

    View record in DOAJ النص الكامل

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  5. 5
    Akt signaling modifies the balance between cell proliferation and migration in neural crest cells from patients affected with bosma arhinia and microphthalmia syndrome

    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


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  6. 6
    Production of Innervated Skeletal Muscle Fibers Using Human Induced Pluripotent Stem Cells

    المؤلفون: Mégane, Delourme, Natacha, Broucqsault, Kilian, Mazaleyrat, Frédérique, Magdinier

    المصدر: Methods in molecular biology (Clifton, N.J.). 2454

    مصطلحات موضوعية: Motor Neurons, Induced Pluripotent Stem Cells, Muscle Fibers, Skeletal, Humans, Cell Differentiation, Muscle, Skeletal, Cells, Cultured, Muscle Contraction

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4d87a69b564bb2598ddc6852dbab75b9Test
    https://pubmed.ncbi.nlm.nih.gov/33368020Test


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  7. 7
    Production of Innervated Skeletal Muscle Fibers Using Human Induced Pluripotent Stem Cells

    المؤلفون: Kilian Mazaleyrat, Frédérique Magdinier, Natacha Broucqsault, Mégane Delourme

    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), Gall, Valérie

    المصدر: Methods in Molecular Biology
    Methods in Molecular Biology, 2020, ⟨10.1007/7651_2020_334⟩
    Methods in Molecular Biology ISBN: 9781071621189

    مصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], Neuromuscular junction, Stem cells, Biology, Sarcomere, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, Multinucleate, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Myocyte, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Neuromuscular disease modeling, Progenitor cell, Motor neurons, Muscle fiber, Contraction, Myogenesis, Skeletal muscle, Cell biology, [SDV] Life Sciences [q-bio], 030104 developmental biology, medicine.anatomical_structure, Myotubes, Stem cell, 030217 neurology & neurosurgery

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be041b29c98568851b8f97410099a7beTest
    https://hal-amu.archives-ouvertes.fr/hal-03142891Test


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  8. 8
    Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy

    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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  9. 9
    SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatellite

    المؤلفون: Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D Gurzau, Agnieszka Nowak, Christopher T Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binetruy, Emmanuelle Salort Campana, Shahram Attarian, Rafa

    المصدر: Nucleic Acids Research

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::695ed91050c08f577800232398c4d599Test


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  10. 10
    Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

    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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