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Journal Abstract Search

466 related items for PubMed ID: 21734574

  • 1. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.
    Statland JM, Tawil R.
    Curr Opin Neurol; 2011 Oct; 24(5):423-8. PubMed ID: 21734574
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  • 2. A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.
    Gatica LV, Rosa AL.
    Neuromuscul Disord; 2016 Dec; 26(12):844-852. PubMed ID: 27816329
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  • 3. 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.
    Haynes P, Bomsztyk K, Miller DG.
    Epigenetics Chromatin; 2018 Aug 20; 11(1):47. PubMed ID: 30122154
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  • 6. Facioscapulohumeral muscular dystrophy.
    Tawil R.
    Handb Clin Neurol; 2018 Aug 20; 148():541-548. PubMed ID: 29478599
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  • 7. Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
    Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.
    Hum Mutat; 2014 Aug 20; 35(8):998-1010. PubMed ID: 24838473
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  • 8. Facioscapulohumeral Muscular Dystrophy.
    DeSimone AM, Pakula A, Lek A, Emerson CP.
    Compr Physiol; 2017 Sep 12; 7(4):1229-1279. PubMed ID: 28915324
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  • 9. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
    Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.
    Hum Mol Genet; 2013 Oct 15; 22(20):4206-14. PubMed ID: 23777630
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  • 10. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
    Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP, Miller JB, Wagner KR, Jones PL.
    Clin Epigenetics; 2015 Oct 15; 7(1):37. PubMed ID: 25904990
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  • 11. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
    Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, Tapscott SJ, van der Maarel SM.
    PLoS Genet; 2013 Apr 15; 9(4):e1003415. PubMed ID: 23593020
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  • 12. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
    Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.
    Hum Genet; 2012 Mar 15; 131(3):325-40. PubMed ID: 21984394
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  • 17. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
    Himeda CL, Jones PL.
    Annu Rev Genomics Hum Genet; 2019 Aug 31; 20():265-291. PubMed ID: 31018108
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  • 18. A unifying genetic model for facioscapulohumeral muscular dystrophy.
    Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.
    Science; 2010 Sep 24; 329(5999):1650-3. PubMed ID: 20724583
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  • 19. PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level.
    Banerji CRS, Zammit PS.
    Hum Mol Genet; 2019 Jul 01; 28(13):2224-2236. PubMed ID: 31067297
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  • 20. A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
    Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK.
    Elife; 2015 Jan 07; 4():. PubMed ID: 25564732
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