BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

424 related articles for article (PubMed ID: 24838473)

  • 1. 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]  

  • 2. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
    Zeng W; de Greef JC; Chen YY; Chien R; Kong X; Gregson HC; Winokur ST; Pyle A; Robertson KD; Schmiesing JA; Kimonis VE; Balog J; Frants RR; Ball AR; Lock LF; Donovan PJ; van der Maarel SM; Yokomori K
    PLoS Genet; 2009 Jul; 5(7):e1000559. PubMed ID: 19593370
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y; Kure Y; Saito Y; Ogawa M; Ishikawa K; Mori-Yoshimura M; Oya Y; Takahashi Y; Kim DS; Arai N; Mori C; Matsumura T; Hamano T; Nakamura K; Ikezoe K; Hayashi S; Goto Y; Noguchi S; Nishino I
    J Transl Med; 2022 Nov; 20(1):517. PubMed ID: 36348371
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

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

  • 7. 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]  

  • 8. Facioscapulohumeral muscular dystrophy.
    Sacconi S; Salviati L; Desnuelle C
    Biochim Biophys Acta; 2015 Apr; 1852(4):607-14. PubMed ID: 24882751
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ; Goeman JJ; van der Vliet PJ; van Nieuwenhuizen MP; Balog J; Vos-Versteeg M; Camano P; Ramos Arroyo MA; Jerico I; Rogers MT; Miller DG; Upadhyaya M; Verschuuren JJ; Lopez de Munain Arregui A; van Engelen BG; Padberg GW; Sacconi S; Tawil R; Tapscott SJ; Bakker B; van der Maarel SM
    Hum Mol Genet; 2015 Feb; 24(3):659-69. PubMed ID: 25256356
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJ; Tawil R; Petek LM; Balog J; Block GJ; Santen GW; Amell AM; van der Vliet PJ; Almomani R; Straasheijm KR; Krom YD; Klooster R; Sun Y; den Dunnen JT; Helmer Q; Donlin-Smith CM; Padberg GW; van Engelen BG; de Greef JC; Aartsma-Rus AM; Frants RR; de Visser M; Desnuelle C; Sacconi S; Filippova GN; Bakker B; Bamshad MJ; Tapscott SJ; Miller DG; van der Maarel SM
    Nat Genet; 2012 Dec; 44(12):1370-4. PubMed ID: 23143600
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC; Lemmers RJ; van Engelen BG; Sacconi S; Venance SL; Frants RR; Tawil R; van der Maarel SM
    Hum Mutat; 2009 Oct; 30(10):1449-59. PubMed ID: 19728363
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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. 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]  

  • 17. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
    Greco A; Goossens R; van Engelen B; van der Maarel SM
    Clin Genet; 2020 Jun; 97(6):799-814. PubMed ID: 32086799
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
    Goossens R; Tihaya MS; van den Heuvel A; Tabot-Ndip K; Willemsen IM; Tapscott SJ; González-Prieto R; Chang JG; Vertegaal ACO; Balog J; van der Maarel SM
    Sci Rep; 2021 Dec; 11(1):23642. PubMed ID: 34880314
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 22.