نتائج البحث

21

Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy

المؤلفون: Charis L. Himeda, Takako I. Jones, Peter L. Jones, Michael R. Green, Ching-Man A. Virbasius, Lihua Julie Zhu

المصدر: Molecular Therapy

مصطلحات موضوعية: 0301 basic medicine, muscular dystrophy, Transcription, Genetic, Muscle Fibers, Skeletal, facioscapulohumeral muscular dystrophy, Locus (genetics), Biology, therapeutic targets, Cell Line, Epigenesis, Genetic, 03 medical and health sciences, DUX4, Drug Discovery, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Clustered Regularly Interspaced Short Palindromic Repeats, Epigenetics, Muscular dystrophy, Muscle, Skeletal, Promoter Regions, Genetic, Molecular Biology, Pharmacology, Regulation of gene expression, Adenosine Triphosphatases, Homeodomain Proteins, Gene knockdown, FSHD, Muscle Cells, epigenetics, medicine.disease, Chromatin, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Cell biology, 030104 developmental biology, HEK293 Cells, Molecular Medicine, Original Article, gene regulation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccfecc4bac5c998502fa699684e154dcTest
http://europepmc.org/articles/PMC6035737Test

22

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

المؤلفون: Galina N. Filippova, Judit Balog, Roderick C. Slieker, Enrico Ne, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil, Jong-Won Lim, Stephen J. Tapscott, Amanda G. Mason, Chao Jen Wong, Zizhen Yao, B.T. Heijmans

المساهمون: Epidemiology and Data Science, APH - Aging & Later Life, APH - Health Behaviors & Chronic Diseases

المصدر: Skeletal Muscle, Vol 7, Iss 1, Pp 1-13 (2017)
Skeletal Muscle, 7(1):12. BioMed Central
Skeletal Muscle
Skeletal Muscle, 7
Mason, A G, Slieker, R C, Balog, J, Lemmers, R J L F, Wong, C J, Yao, Z, Lim, J W, Filippova, G N, Ne, E, Tawil, R, Heijmans, B T, Tapscott, S J & van der Maarel, S M 2017, ' SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes ', Skeletal Muscle, vol. 7, no. 1, 12 . https://doi.org/10.1186/s13395-017-0129-7Test

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d52320f79f7dc1b3e03c9e6125963bTest
http://link.springer.com/article/10.1186/s13395-017-0129-7Test

23

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

المؤلفون: Sujatha Jagannathan, Stephen J. Tapscott, Robert K. Bradley, Yuko Ogata, Philip R. Gafken

المصدر: eLife
eLife, Vol 8 (2019)

مصطلحات موضوعية: 0301 basic medicine, Proteomics, Transcription, Genetic, QH301-705.5, nonsense-mediated RNA decay, DUX4, Science, Quantitative proteomics, facioscapulohumeral muscular dystrophy, 030105 genetics & heredity, Biology, General Biochemistry, Genetics and Molecular Biology, Cell Line, Transcriptome, 03 medical and health sciences, Stress, Physiological, medicine, Facioscapulohumeral muscular dystrophy, Humans, NMD, Biology (General), Human Biology and Medicine, Regulation of gene expression, Homeodomain Proteins, FSHD, General Immunology and Microbiology, Molecular pathology, General Neuroscience, RNA, Genetics and Genomics, General Medicine, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Cell biology, Tools and Resources, 030104 developmental biology, Gene Expression Regulation, Proteome, Medicine, post-transcriptional gene regulation, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcd905f37e8c31bef8b37d8f82bd7507Test
https://pubmed.ncbi.nlm.nih.gov/30644821Test

24

Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele

المؤلفون: Daniel G. Miller, Premi Haynes, Karol Bomsztyk

المصدر: Epigenetics & Chromatin
Epigenetics & Chromatin, Vol 11, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Facioscapulohumeral, DUX4, Bivalent, Dystrophy, Histones, 03 medical and health sciences, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Epigenetics, Polycomb repressive complex, Molecular Biology, Cells, Cultured, Homeodomain Proteins, FSHD, H3K9Ac, Muscle Cells, Muscular, D4Z4, biology, SMCHD1, Research, Polycomb Repressive Complex 2, Acetylation, medicine.disease, Chromatin Assembly and Disassembly, PRC2, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Cell biology, lcsh:Genetics, Histone, 030104 developmental biology, Neuromuscular, DNA methylation, biology.protein, H3K4me3, Chromatin immunoprecipitation, Protein Processing, Post-Translational

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4348fbaa7de2d2a5449af9684c057403Test
http://europepmc.org/articles/PMC6100714Test

25

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

المؤلفون: Judit Balog, Richard J.L.F. Lemmers, Marlinde L. van den Boogaard, Kirsten R. Straasheijm, Peter E. Thijssen, Stephen J. Tapscott, Rabi Tawil, Silvère M. van der Maarel, Sean C. Shadle, Yvonne D. Krom, Patrick J. van der Vliet, Annika de Jong

المصدر: Epigenetics

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Cancer Research, DUX4, Chromosomal Proteins, Non-Histone, Cellular differentiation, Biology, Muscle Development, Cell Line, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Myocyte, Facioscapulohumeral muscular dystrophy, transcriptional regulation, Muscle, Skeletal, Molecular Biology, Derepression, Homeodomain Proteins, Genetics, FSHD, D4Z4, SMCHD1, Myogenesis, Muscle cell differentiation, fungi, Polycomb Repressive Complex 2, Skeletal muscle, Cell Differentiation, DNA Methylation, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Cell biology, Histone Code, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, myogenesis, Corrigendum, 030217 neurology & neurosurgery, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0943770854b226100470a52a8f2f03fTest
https://doi.org/10.1080/15592294.2015.1113798Test

26

Exciting perspectives for Translational Myology in the Abstracts of the 2018Spring PaduaMuscleDays: Giovanni Salviati Memorial – Chapter II - Abstracts of March 15, 2018

المؤلفون: Luisa Gorza

المصدر: European Journal of Translational Myology, Vol 28, Iss 1 (2018)
European Journal of Translational Myology

مصطلحات موضوعية: muscle atrophy, 0301 basic medicine, ERG1 Potassium Channel, Becker Dystrophies, PaduaMuscleDays, muscle, LGMD1F, lipid droplets, cross sectional area, WY-14643, Skeletal muscle, lcsh:Medicine, Total Hip Arthroplasty, Transportin 3 (TNPO3), corticosteroids, Neutral lipid storage disease, Multimodal Analysis, lipase, muscle MRI imaging, Medicine, Orthopedics and Sports Medicine, Wasting, oxidants, neuromuscular junction, biology, muscle unloading, lcsh:Human anatomy, human denervated muscle, LGMD, Nitric oxide synthase, medicine.anatomical_structure, external-work contractility, diaphragm, myostatin, FoxO3, HyperCKemia, triacylglycerol, medicine.symptom, strength, epigenetic, myopathy, muscular dystrophy, Duchenne muscular dystrophy, Limb-girdle Muscular Dystrophy 1F, medicine.medical_specialty, Plasticity, nNOS, Heart failure, Bone Mineral Density, Article, lcsh:QM1-695, recovery, 03 medical and health sciences, Atrophy, atrophy, Caspase-12, Internal medicine, Single fiber proteomics, Giovanni Salviati, proof of concept, translational myology, PaduaMuscleDays, weakness, h-bFES, muscle hypertrophy, muscle bulk, Molecular Biology, intracellular calcium, FSHD, disease, proof of concept, SMCHD1, muscle disuse, Electromyography, business.industry, role of metals, aging, lcsh:R, Giovanni Salviati, muscle wasting, Cell Biology, medicine.disease, acute injury, mitochondrial dynamics, Resistance training, 030104 developmental biology, Endocrinology, Oxidative stress, regeneration, Proteostasis, biology.protein, phenotypic variability, translational myology, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e29d5ecf1ccd1bff2e618ad0b76707Test
https://doi.org/10.4081/ejtm.2018.7364Test

27

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells

المؤلفون: Lauren Snider, Francis M. Sverdrup, Shannon Tai, Stephen J. Tapscott, Rabi Tawil, Matthew P. Yates, Jonathan Oliva, Nikita Singh, Jun Wen Zhong, Yosuke Hiramuki, Silvère M. van der Maarel, Sean C. Shadle, Amy E. Campbell

المصدر: Skeletal Muscle
Skeletal Muscle, Vol 7, Iss 1, Pp 1-18 (2017)
Skeletal Muscle, 7

مصطلحات موضوعية: 0301 basic medicine, BRD4, lcsh:Diseases of the musculoskeletal system, DUX4, Bromodomain, Cell Cycle Proteins, Biology, Myoblasts, Small Molecule Libraries, 03 medical and health sciences, 0302 clinical medicine, Facioscapulohumeral muscular dystrophy, medicine, Cyclic AMP, Myocyte, Humans, Orthopedics and Sports Medicine, Epigenetics, Molecular Biology, Adrenergic beta-2 Receptor Agonists, Cells, Cultured, Homeodomain Proteins, FSHD, Research, High-throughput screening, Skeletal muscle, Nuclear Proteins, Cell Biology, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, High-Throughput Screening Assays, 030104 developmental biology, medicine.anatomical_structure, Adrenergic, Cancer research, Beta-2 adrenergic receptor, lcsh:RC925-935, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c6154d3bc1b6f2edcdf2cac87e61573Test
http://europepmc.org/articles/PMC5584331Test

28

Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures

المؤلفون: Daniel G. Miller, Kelly Kernan, Suk-Lin Zhou, Premi Haynes

المصدر: Skeletal Muscle
Skeletal Muscle, Vol 7, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: 0301 basic medicine, Cell type, lcsh:Diseases of the musculoskeletal system, Facioscapulohumeral, DUX4, Induced Pluripotent Stem Cells, PAX3, Stem cells, Biology, Myoblasts, Mice, 03 medical and health sciences, Animals, Humans, Myocyte, Orthopedics and Sports Medicine, Induced pluripotent stem cell, PAX3 Transcription Factor, Molecular Biology, Cells, Cultured, Embryonic Stem Cells, Homeodomain Proteins, FSHD, Myogenesis, Research, Gene Expression Regulation, Developmental, PAX7 Transcription Factor, Cell Differentiation, Cell Biology, Fibroblasts, musculoskeletal system, Embryonic stem cell, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, PAX7, 030104 developmental biology, Isogenic, lcsh:RC925-935, Stem cell, Developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cccbbc2bb3fa31daa36c23e46aaaf606Test
https://doi.org/10.1186/s13395-017-0130-1Test

29

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

المؤلفون: Louise A. Moyle, Christopher R. S. Banerji, Silvère M. van der Maarel, Paul Knopp, Maryna Panamarova, Bianca den Hamer, Peter S. Zammit, Yvonne D. Krom

المصدر: Journal of Cell Science, 129(20), 3816-3831
Journal of Cell Science
Knopp, P, Krom, Y D, Banerji, C R S, Panamarova, M, Moyle, L A, den Hamer, B, van der Maarel, S M & Zammit, P S 2016, ' DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis ', Journal of Cell Science, vol. 129, no. 20, pp. 3816-3831 . https://doi.org/10.1242/jcs.180372Test

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, Transcriptional Activation, Satellite Cells, Skeletal Muscle, DUX4, Cellular differentiation, Muscle Fibers, Skeletal, Skeletal muscle, Apoptosis, Mice, Transgenic, Stem cells, 030105 genetics & heredity, Biology, Muscle Development, Transcriptome, Myoblasts, 03 medical and health sciences, medicine, Myocyte, Facioscapulohumeral muscular dystrophy, Animals, Humans, Regeneration, Epigenetics, 10. No inequality, Muscle, Skeletal, Molecular Biology, Cell Shape, Homeodomain Proteins, FSHD, Myogenesis, Cell Differentiation, Cell Biology, medicine.disease, Molecular biology, Cell biology, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, DUX4c, Satellite cell, Developmental Biology, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7527185b6db1c69f8b1bbaa2e249197Test
http://hdl.handle.net/1887/113797Test

30

FHL1 Reduces Dystrophy in Transgenic Mice Overexpressing FSHD Muscular Dystrophy Region Gene 1 (FRG1)

المؤلفون: Absorn Sriratana, Christina Anne Mitchell, Stefan M. Gehrig, Colleen Elizabeth D'Arcy, Gordon S. Lynch, Meagan Jane Mcgrath, Sandra J Feeney, Catriona McLean, Rossella Tupler, John T. Price

المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 2, p e0117665 (2015)

مصطلحات موضوعية: muscular dystrophy, Male, FSHD region gene 1, FHL1, mouse model, Science, Gene Expression, Muscle Proteins, Mice, Transgenic, Biology, Muscle Development, Myotonic dystrophy, Cell Line, Myoblasts, Myoblast fusion, Mice, DUX4, medicine, Facioscapulohumeral muscular dystrophy, Animals, Humans, Muscular dystrophy, Muscle, Skeletal, Genetics, Multidisciplinary, Microfilament Proteins, Intracellular Signaling Peptides and Proteins, Dystrophy, Nuclear Proteins, RNA-Binding Proteins, LIM Domain Proteins, medicine.disease, musculoskeletal system, Fibrosis, Muscular Dystrophy, Facioscapulohumeral, Cell biology, transgenic mouse, Medicine, Female, C2C12, muscular dystrophy, mouse model, FSHD region gene 1, FHL1, transgenic mouse, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972362df3395f9a9c97edf79ad832872Test
http://europepmc.org/articles/PMC4335040Test

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