BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

281 related articles for article (PubMed ID: 30107443)

  • 1. A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
    Sasaki-Honda M; Jonouchi T; Arai M; Hotta A; Mitsuhashi S; Nishino I; Matsuda R; Sakurai H
    Hum Mol Genet; 2018 Dec; 27(23):4024-4035. PubMed ID: 30107443
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intronic
    Goossens R; van den Boogaard ML; Lemmers RJLF; Balog J; van der Vliet PJ; Willemsen IM; Schouten J; Maggio I; van der Stoep N; Hoeben RC; Tapscott SJ; Geijsen N; Gonçalves MAFV; Sacconi S; Tawil R; van der Maarel SM
    J Med Genet; 2019 Dec; 56(12):828-837. PubMed ID: 31676591
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
    Himeda CL; Jones PL
    Annu Rev Genomics Hum Genet; 2019 Aug; 20():265-291. PubMed ID: 31018108
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
    Snider L; Geng LN; Lemmers RJ; Kyba M; Ware CB; Nelson AM; Tawil R; Filippova GN; van der Maarel SM; Tapscott SJ; Miller DG
    PLoS Genet; 2010 Oct; 6(10):e1001181. PubMed ID: 21060811
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Homozygous nonsense variant in
    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; 94(23):e2441-e2447. PubMed ID: 32467133
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy.
    Himeda CL; Jones TI; Virbasius CM; Zhu LJ; Green MR; Jones PL
    Mol Ther; 2018 Jul; 26(7):1797-1807. PubMed ID: 29759937
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
    Lim JW; Wong CJ; Yao Z; Tawil R; van der Maarel SM; Miller DG; Tapscott SJ; Filippova GN
    Hum Mol Genet; 2018 Aug; 27(15):2644-2657. PubMed ID: 29741619
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
    Balog J; Thijssen PE; Shadle S; Straasheijm KR; van der Vliet PJ; Krom YD; van den Boogaard ML; de Jong A; F Lemmers RJ; Tawil R; Tapscott SJ; van der Maarel SM
    Epigenetics; 2015; 10(12):1133-42. PubMed ID: 26575099
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Direct interplay between two candidate genes in FSHD muscular dystrophy.
    Ferri G; Huichalaf CH; Caccia R; Gabellini D
    Hum Mol Genet; 2015 Mar; 24(5):1256-66. PubMed ID: 25326393
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 11(1):47. PubMed ID: 30122154
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
    van den Boogaard ML; Lemmers RJ; Camaño P; van der Vliet PJ; Voermans N; van Engelen BG; Lopez de Munain A; Tapscott SJ; van der Stoep N; Tawil R; van der Maarel SM
    Eur J Hum Genet; 2016 Jan; 24(1):78-85. PubMed ID: 25782668
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.
    Hamel J; Tawil R
    Neurotherapeutics; 2018 Oct; 15(4):863-871. PubMed ID: 30361930
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
    Sacconi S; Lemmers RJ; Balog J; van der Vliet PJ; Lahaut P; van Nieuwenhuizen MP; Straasheijm KR; Debipersad RD; Vos-Versteeg M; Salviati L; Casarin A; Pegoraro E; Tawil R; Bakker E; Tapscott SJ; Desnuelle C; van der Maarel SM
    Am J Hum Genet; 2013 Oct; 93(4):744-51. PubMed ID: 24075187
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJLF; van der Vliet PJ; Vreijling JP; Henderson D; van der Stoep N; Voermans N; van Engelen B; Baas F; Sacconi S; Tawil R; van der Maarel SM
    Hum Mol Genet; 2018 Oct; 27(20):3488-3497. PubMed ID: 30281091
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.
    Jia FF; Drew AP; Nicholson GA; Corbett A; Kumar KR
    Neuromuscul Disord; 2021 Nov; 31(11):1101-1112. PubMed ID: 34711481
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Facioscapulohumeral Muscular Dystrophy.
    DeSimone AM; Pakula A; Lek A; Emerson CP
    Compr Physiol; 2017 Sep; 7(4):1229-1279. PubMed ID: 28915324
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic and epigenetic contributors to FSHD.
    Daxinger L; Tapscott SJ; van der Maarel SM
    Curr Opin Genet Dev; 2015 Aug; 33():56-61. PubMed ID: 26356006
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Facioscapulohumeral muscular dystrophy.
    Tawil R
    Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.