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Smchd1 Targeting to the Inactive X Is Dependent on the Xist-HnrnpK-PRC1 Pathway.
Jansz N, Nesterova T, Keniry A, Iminitoff M, Hickey PF, Pintacuda G, Masui O, Kobelke S, Geoghegan N, Breslin KA, Willson TA, Rogers K, Kay GF, Fox AH, Koseki H, Brockdorff N, Murphy JM, Blewitt ME. Jansz N, et al. Among authors: breslin ka. Cell Rep. 2018 Nov 13;25(7):1912-1923.e9. doi: 10.1016/j.celrep.2018.10.044. Cell Rep. 2018. PMID: 30428357 Free article.
Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation.
Chen K, Hu J, Moore DL, Liu R, Kessans SA, Breslin K, Lucet IS, Keniry A, Leong HS, Parish CL, Hilton DJ, Lemmers RJ, van der Maarel SM, Czabotar PE, Dobson RC, Ritchie ME, Kay GF, Murphy JM, Blewitt ME. Chen K, et al. Proc Natl Acad Sci U S A. 2015 Jul 7;112(27):E3535-44. doi: 10.1073/pnas.1504232112. Epub 2015 Jun 19. Proc Natl Acad Sci U S A. 2015. PMID: 26091879 Free PMC article.
Setdb1-mediated H3K9 methylation is enriched on the inactive X and plays a role in its epigenetic silencing.
Keniry A, Gearing LJ, Jansz N, Liu J, Holik AZ, Hickey PF, Kinkel SA, Moore DL, Breslin K, Chen K, Liu R, Phillips C, Pakusch M, Biben C, Sheridan JM, Kile BT, Carmichael C, Ritchie ME, Hilton DJ, Blewitt ME. Keniry A, et al. Epigenetics Chromatin. 2016 May 18;9:16. doi: 10.1186/s13072-016-0064-6. eCollection 2016. Epigenetics Chromatin. 2016. PMID: 27195021 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. Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437. Hum Mol Genet. 2018. PMID: 29281018 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. Elife. 2020 Nov 13;9:e55529. doi: 10.7554/eLife.55529. Elife. 2020. PMID: 33186096 Free PMC article.
35 results