BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

384 related articles for article (PubMed ID: 23821646)

  • 1. Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
    Block GJ; Narayanan D; Amell AM; Petek LM; Davidson KC; Bird TD; Tawil R; Moon RT; Miller DG
    Hum Mol Genet; 2013 Dec; 22(23):4661-72. PubMed ID: 23821646
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

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

  • 4. 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]  

  • 5. 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]  

  • 6. DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
    Lim JW; Snider L; Yao Z; Tawil R; Van Der Maarel SM; Rigo F; Bennett CF; Filippova GN; Tapscott SJ
    Hum Mol Genet; 2015 Sep; 24(17):4817-28. PubMed ID: 26041815
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.
    Block GJ; Petek LM; Narayanan D; Amell AM; Moore JM; Rabaia NA; Tyler A; van der Maarel SM; Tawil R; Filippova GN; Miller DG
    PLoS One; 2012; 7(4):e35532. PubMed ID: 22536400
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
    Lemmers RJ; van der Vliet PJ; Balog J; Goeman JJ; Arindrarto W; Krom YD; Straasheijm KR; Debipersad RD; Özel G; Sowden J; Snider L; Mul K; Sacconi S; van Engelen B; Tapscott SJ; Tawil R; van der Maarel SM
    Eur J Hum Genet; 2018 Jan; 26(1):94-106. PubMed ID: 29162933
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei.
    Vanderplanck C; Tassin A; Ansseau E; Charron S; Wauters A; Lancelot C; Vancutsem K; Laoudj-Chenivesse D; Belayew A; Coppée F
    Skelet Muscle; 2018 Jan; 8(1):2. PubMed ID: 29329560
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
    de Greef JC; Krom YD; den Hamer B; Snider L; Hiramuki Y; van den Akker RFP; Breslin K; Pakusch M; Salvatori DCF; Slütter B; Tawil R; Blewitt ME; Tapscott SJ; van der Maarel SM
    Hum Mol Genet; 2018 Feb; 27(4):716-731. PubMed ID: 29281018
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy.
    Ganassi M; Figeac N; Reynaud M; Ortuste Quiroga HP; Zammit PS
    Front Cell Dev Biol; 2022; 10():802573. PubMed ID: 36158201
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
    Lemmers RJLF; Butterfield R; van der Vliet PJ; de Bleecker JL; van der Pol L; Dunn DM; Erasmus CE; D'Hooghe M; Verhoeven K; Balog J; Bigot A; van Engelen B; Statland J; Bugiardini E; van der Stoep N; Evangelista T; Marini-Bettolo C; van den Bergh P; Tawil R; Voermans NC; Vissing J; Weiss RB; van der Maarel SM
    Brain; 2024 Feb; 147(2):414-426. PubMed ID: 37703328
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

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

  • 19. DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
    Tassin A; Laoudj-Chenivesse D; Vanderplanck C; Barro M; Charron S; Ansseau E; Chen YW; Mercier J; Coppée F; Belayew A
    J Cell Mol Med; 2013 Jan; 17(1):76-89. PubMed ID: 23206257
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 9(4):e1003415. PubMed ID: 23593020
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.