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The Epigenetic Regulator SMCHD1 in Development and Disease.
Jansz N, Chen K, Murphy JM, Blewitt ME. Jansz N, et al. Among authors: chen k. 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.
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: chen k. 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. 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.
Transcriptional profiling of the epigenetic regulator Smchd1.
Liu R, Chen K, Jansz N, Blewitt ME, Ritchie ME. Liu R, et al. Among authors: chen k. Genom Data. 2015 Dec 31;7:144-7. doi: 10.1016/j.gdata.2015.12.027. eCollection 2016 Mar. Genom Data. 2015. PMID: 26981392 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. Among authors: chen k. Epigenetics Chromatin. 2016 May 18;9:16. doi: 10.1186/s13072-016-0064-6. eCollection 2016. Epigenetics Chromatin. 2016. PMID: 27195021 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: chen k. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911
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