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SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F. Dion C, et al. Among authors: murphy jm. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
Epigenetic regulator Smchd1 functions as a tumor suppressor.
Leong HS, Chen K, Hu Y, Lee S, Corbin J, Pakusch M, Murphy JM, Majewski IJ, Smyth GK, Alexander WS, Hilton DJ, Blewitt ME. Leong HS, et al. Among authors: murphy jm. Cancer Res. 2013 Mar 1;73(5):1591-9. doi: 10.1158/0008-5472.CAN-12-3019. Epub 2012 Dec 26. Cancer Res. 2013. PMID: 23269277
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. Among authors: murphy jm. 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.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: murphy jm. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.
The Epigenetic Regulator SMCHD1 in Development and Disease.
Jansz N, Chen K, Murphy JM, Blewitt ME. Jansz N, et al. Among authors: murphy jm. Trends Genet. 2017 Apr;33(4):233-243. doi: 10.1016/j.tig.2017.01.007. Epub 2017 Feb 20. Trends Genet. 2017. PMID: 28222895 Review.
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: murphy jm. 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.
796 results