المؤلفون: Fabrice Prin, Shifeng Xue, Yvonne D. Krom, Benetti N, Matthew E. Ritchie, Andrew Keniry, Natasha Jansz, de Greef Jc, Bouwman Lf, Tamara Beck, den Hamer B, Hannah Vanyai, Kelan Chen, Timothy J. Mohun, Edwina McGlinn, Tapia del Fierro A, James M. Murphy, Kelsey Breslin, van der Hoorn D, Harald Oey, Marnie E. Blewitt, Alexandra D. Gurzau, Lucia Daxinger, van der Maarel Sm, Wanigasuriya I, Bruno Reversade, Nguyen Ly Tt

مصطلحات موضوعية: biology, SMC protein, Mutant, biology.protein, Gene silencing, Epigenetics, Homeotic gene, PRC2, Hox gene, Cell biology, Chromatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::122339533082382fd1db20eccc936dfd
https://doi.org/10.1101/2021.05.12.443934

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المؤلفون: Gansevoort M; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Oostendorp C; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; HAN University of Applied Sciences, Arnhem, The Netherlands., Bouwman LF; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Leiden University Medical Center, Leiden, The Netherlands., Tiemessen DM; Department of Urology, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Geutjes PJ; Department of Urology, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Canisius Wilhelmina Hospital, Nijmegen, The Netherlands., Feitz WFJ; Department of Urology, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., van Kuppevelt TH; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Daamen WF; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Willeke.Daamen@radboudumc.nl.

المصدر: Tissue engineering and regenerative medicine [Tissue Eng Regen Med] 2024 Aug 31. Date of Electronic Publication: 2024 Aug 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Publishing co-published with Korean Tissue Engineering and Regenerative Medicine Country of Publication: Korea (South) NLM ID: 101699923 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-5469 (Electronic) Linking ISSN: 17382696 NLM ISO Abbreviation: Tissue Eng Regen Med Subsets: MEDLINE

المؤلفون: Bouwman LF; Department of Human Genetics, LUMC, Leiden, the Netherlands. Electronic address: l.f.bouwman@lumc.nl., Joosen MEM; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Buijsen RAM; Department of Human Genetics, LUMC, Leiden, the Netherlands., van der Graaf LM; Department of Human Genetics, LUMC, Leiden, the Netherlands., Pepers BA; Department of Human Genetics, LUMC, Leiden, the Netherlands., Voesenek BJB; Department of Human Genetics, LUMC, Leiden, the Netherlands., Brosens E; Erasmus MC Sophia Children's Hospital, Department of Clinical Genetics, Rotterdam, the Netherlands., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Roon-Mom WMC; Department of Human Genetics, LUMC, Leiden, the Netherlands.

المصدر: Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103462. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Spinocerebellar Ataxias*/pathology , Spinocerebellar Ataxias*/genetics, Humans ; Cell Line ; Male ; Cell Differentiation ; Female ; Adult

المؤلفون: Tapia Del Fierro A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., den Hamer B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Benetti N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Jansz N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Chen K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Beck T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Vanyai H; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Daxinger L; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Ly TTN; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Wanigasuriya I; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Breslin K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Oey H; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Krom YD; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., van der Hoorn D; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Johanson TM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Ritchie ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Gouil QA; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore, Singapore., Prin F; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Mohun T; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., McGlinn E; EMBL Australia, Monash University, Clayton, VIC, Australia.; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC, Australia., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, VIC, Australia., Keniry A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia. blewitt@wehi.edu.au.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. blewitt@wehi.edu.au.

المصدر: Nature communications [Nat Commun] 2023 Sep 25; Vol. 14 (1), pp. 5466. Date of Electronic Publication: 2023 Sep 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin*/genetics , Muscular Dystrophy, Facioscapulohumeral*/genetics , Chromosomal Proteins, Non-Histone*/genetics, Animals ; Mice ; Epigenomics ; Gene Silencing ; Genes, Homeobox

المؤلفون: Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands., den Hamer B; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands., van den Heuvel A; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands., Franken M; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands., Jackson M; Ionis Pharmaceuticals Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA., Dwyer CA; Ionis Pharmaceuticals Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA., Tapscott SJ; Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.; Department of Neurology, University of Washington, Seattle, WA 98105, USA., Rigo F; Ionis Pharmaceuticals Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands.

المصدر: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2021 Sep 27; Vol. 26, pp. 813-827. Date of Electronic Publication: 2021 Sep 27 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

المؤلفون: Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Maarel SM, de Greef JC

المصدر: Current opinion in neurology [Curr Opin Neurol] 2020 Oct; Vol. 33 (5), pp. 635-640.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9319162 Publication Model: Print Cited Medium: Internet ISSN: 1473-6551 (Electronic) Linking ISSN: 13507540 NLM ISO Abbreviation: Curr Opin Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Homeobox*, Homeodomain Proteins/*genetics , Muscle, Skeletal/*metabolism , Muscular Dystrophy, Facioscapulohumeral/*genetics, Gene Expression Regulation ; Humans ; Muscular Dystrophy, Facioscapulohumeral/metabolism

المؤلفون: Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., den Hamer B; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., Verveer EP; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., Lerink LJS; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., Krom YD; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands.; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands. J.C.de_Greef@lumc.nl.

المصدر: Skeletal muscle [Skelet Muscle] 2020 Oct 01; Vol. 10 (1), pp. 27. Date of Electronic Publication: 2020 Oct 01.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101561193 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-5040 (Electronic) Linking ISSN: 20445040 NLM ISO Abbreviation: Skelet Muscle Subsets: MEDLINE

مواضيع طبية MeSH: DNA (Cytosine-5-)-Methyltransferases/*genetics , Homeodomain Proteins/*metabolism , Muscular Dystrophy, Facioscapulohumeral/*genetics, Animals ; Cells, Cultured ; DNA (Cytosine-5-)-Methyltransferases/metabolism ; Homeodomain Proteins/genetics ; Lymph Nodes/metabolism ; Mice ; Mice, Inbred C57BL ; Mouse Embryonic Stem Cells/metabolism ; Muscle, Skeletal/metabolism ; Muscular Dystrophy, Facioscapulohumeral/metabolism ; Mutation ; Spleen/metabolism ; DNA Methyltransferase 3B