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Journal Abstract Search

342 related items for PubMed ID: 33436523

  • 1. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
    Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM.
    J Med Genet; 2022 Feb; 59(2):180-188. PubMed ID: 33436523
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  • 2. 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; 35(8):998-1010. PubMed ID: 24838473
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  • 3. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
    Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM.
    Neurology; 2020 Jun 09; 94(23):e2441-e2447. PubMed ID: 32467133
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  • 6. 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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  • 7. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
    van der Maarel SM, Tawil R, Tapscott SJ.
    Trends Mol Med; 2011 May 20; 17(5):252-8. PubMed ID: 21288772
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  • 8. 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 20; 26(12):844-852. PubMed ID: 27816329
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  • 9. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
    Greco A, Goossens R, van Engelen B, van der Maarel SM.
    Clin Genet; 2020 Jun 20; 97(6):799-814. PubMed ID: 32086799
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  • 10. 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 20; 9(4):e1003415. PubMed ID: 23593020
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  • 11. 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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  • 15. Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.
    Banerji CRS, Zammit PS.
    EMBO Mol Med; 2021 Aug 09; 13(8):e13695. PubMed ID: 34151531
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  • 16. Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
    Ma Y, Schwager Karpukhina A, Dib C, Gautier C, Hermine O, Allemand E, Vassetzky YS.
    Sci Adv; 2024 May 03; 10(18):eadl1922. PubMed ID: 38691604
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  • 17. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
    Rossi M, Ricci E, Colantoni L, Galluzzi G, Frusciante R, Tonali PA, Felicetti L.
    BMC Med Genet; 2007 Mar 02; 8():8. PubMed ID: 17335567
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  • 18. 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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  • 19. Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.
    Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM.
    Am J Pathol; 2012 Oct 01; 181(4):1387-401. PubMed ID: 22871573
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  • 20. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
    Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.
    Hum Genet; 2012 Mar 01; 131(3):325-40. PubMed ID: 21984394
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