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Page 1
Mediator and human disease.
Spaeth JM, Kim NH, Boyer TG. Spaeth JM, et al. Semin Cell Dev Biol. 2011 Sep;22(7):776-87. doi: 10.1016/j.semcdb.2011.07.024. Epub 2011 Aug 4. Semin Cell Dev Biol. 2011. PMID: 21840410 Free PMC article. Review.
Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.
Turunen M, Spaeth JM, Keskitalo S, Park MJ, Kivioja T, Clark AD, Mäkinen N, Gao F, Palin K, Nurkkala H, Vähärautio A, Aavikko M, Kämpjärvi K, Vahteristo P, Kim CA, Aaltonen LA, Varjosalo M, Taipale J, Boyer TG. Turunen M, et al. Cell Rep. 2014 May 8;7(3):654-60. doi: 10.1016/j.celrep.2014.03.047. Epub 2014 Apr 18. Cell Rep. 2014. PMID: 24746821 Free PMC article.
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.