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SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Commun Biol. 2023 Jun 28;6(1):677. doi: 10.1038/s42003-023-05053-0.
Commun Biol. 2023.
PMID: 37380887
Free PMC article.
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
Zheng D, Wondergem A, Kloet S, Willemsen I, Balog J, Tapscott SJ, Mahfouz A, van den Heuvel A, van der Maarel SM.
Zheng D, et al. Among authors: willemsen i.
Hum Mol Genet. 2024 Jan 20;33(3):284-298. doi: 10.1093/hmg/ddad186.
Hum Mol Genet. 2024.
PMID: 37934801
Free PMC article.
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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.
Goossens R, et al. Among authors: willemsen im.
Sci Rep. 2021 Dec 8;11(1):23642. doi: 10.1038/s41598-021-03030-3.
Sci Rep. 2021.
PMID: 34880314
Free PMC article.
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Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
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.
Goossens R, et al. Among authors: willemsen im.
J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1.
J Med Genet. 2019.
PMID: 31676591
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