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Page 1
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC. van der Wal E, et al. Among authors: den hamer b. Stem Cell Res. 2019 Oct;40:101560. doi: 10.1016/j.scr.2019.101560. Epub 2019 Aug 28. Stem Cell Res. 2019. PMID: 31518905 Free article.
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. Krom YD, et al. Among authors: den hamer b. Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007. Epub 2012 Aug 4. Am J Pathol. 2012. PMID: 22871573 Free PMC article.
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. Krom YD, et al. Among authors: den hamer b. PLoS Genet. 2013 Apr;9(4):e1003415. doi: 10.1371/journal.pgen.1003415. Epub 2013 Apr 4. PLoS Genet. 2013. PMID: 23593020 Free PMC article.
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. de Greef JC, et al. Among authors: den hamer b. Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437. Hum Mol Genet. 2018. PMID: 29281018 Free PMC article.
USP18 is an essential regulator of muscle cell differentiation and maturation.
Olie CS, Pinto-Fernández A, Damianou A, Vendrell I, Mei H, den Hamer B, van der Wal E, de Greef JC, Raz V, Kessler BM. Olie CS, et al. Among authors: den hamer b. Cell Death Dis. 2023 Mar 31;14(3):231. doi: 10.1038/s41419-023-05725-z. Cell Death Dis. 2023. PMID: 37002195 Free PMC article.
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Tapia Del Fierro A, den Hamer B, Benetti N, Jansz N, Chen K, Beck T, Vanyai H, Gurzau AD, Daxinger L, Xue S, Ly TTN, Wanigasuriya I, Iminitoff M, Breslin K, Oey H, Krom YD, van der Hoorn D, Bouwman LF, Johanson TM, Ritchie ME, Gouil QA, Reversade B, Prin F, Mohun T, van der Maarel SM, McGlinn E, Murphy JM, Keniry A, de Greef JC, Blewitt ME. Tapia Del Fierro A, et al. Among authors: den hamer b. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
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