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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. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
Smchd1 is a maternal effect gene required for genomic imprinting.
Wanigasuriya I, Gouil Q, Kinkel SA, Tapia Del Fierro A, Beck T, Roper EA, Breslin K, Stringer J, Hutt K, Lee HJ, Keniry A, Ritchie ME, Blewitt ME. Wanigasuriya I, et al. Among authors: tapia del fierro a. Elife. 2020 Nov 13;9:e55529. doi: 10.7554/eLife.55529. Elife. 2020. PMID: 33186096 Free PMC article.
BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivation.
Keniry A, Jansz N, Gearing LJ, Wanigasuriya I, Chen J, Nefzger CM, Hickey PF, Gouil Q, Liu J, Breslin KA, Iminitoff M, Beck T, Tapia Del Fierro A, Whitehead L, Jarratt A, Kinkel SA, Taberlay PC, Willson T, Pakusch M, Ritchie ME, Hilton DJ, Polo JM, Blewitt ME. Keniry A, et al. Among authors: tapia del fierro a. Nat Commun. 2022 Mar 29;13(1):1658. doi: 10.1038/s41467-022-29333-1. Nat Commun. 2022. PMID: 35351876 Free PMC article.