1 | MED12
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| Loss of MED12 Induces Tumor Dormancy in Human Epithelial Ovarian Cancer via Downregulation of EGFR.
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| Luo XL, Deng CC, Su XD, Wang F, Chen Z, Wu XP, Liang SB, Liu JH, Fu LW.
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| Cancer Res 78(13):3532-3543. doi: 10.1158/0008-5472.CAN-18-0134. Epub 2018 May 7.
2018
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2 | CARM1, JMJD6, MED12
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| JMJD6 Licenses ERα-Dependent Enhancer and Coding Gene Activation by Modulating the Recruitment of the CARM1/MED12 Co-activator Complex.
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| Gao WW, Xiao RQ, Zhang WJ, Hu YR, Peng BL, Li WJ, He YH, Shen HF, Ding JC, Huang QX, Ye TY, Li Y, Liu ZY, Ding R, Rosenfeld MG, Liu W.
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| Mol Cell 70(2):340-357.e8. doi: 10.1016/j.molcel.2018.03.006. Epub 2018 Apr 5.
2018
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3 | MED12
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| MED12 mutations and NOTCH signalling in chronic lymphocytic leukaemia.
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| Wu B, Słabicki M, Sellner L, Dietrich S, Liu X, Jethwa A, Hüllein J, Walther T, Wagner L, Huang Z, Zapatka M, Zenz T.
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| Br J Haematol 179(3):421-429. doi: 10.1111/bjh.14869. Epub 2017 Aug 2.
2017
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4 | FGS1, LJFS1, MED12, OHDOX
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| MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
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| Donnio LM, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer APM, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM.
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| Hum Mol Genet 26(11):2062-2075. doi: 10.1093/hmg/ddx099.
2017
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5 | MED12
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| Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.
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| Heikkinen T, Kämpjärvi K, Keskitalo S, von Nandelstadh P, Liu X, Rantanen V, Pitkänen E, Kinnunen M, Kuusanmäki H, Kontro M, Turunen M, Mäkinen N, Taipale J, Heckman C, Lehti K, Mustjoki S, Varjosalo M, Vahteristo P.
|
| Hum Mutat 38(3):269-274. doi: 10.1002/humu.23157. Epub 2017 Jan 11.
2017
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6 | MED12
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| Silencing Med12 Gene Reduces Proliferation of Human Leiomyoma Cells Mediated via Wnt/β-Catenin Signaling Pathway.
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| Al-Hendy A, Laknaur A, Diamond MP, Ismail N, Boyer TG, Halder SK.
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| Endocrinology 158(3):592-603. doi: 10.1210/en.2016-1097.
2017
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7 | MED12
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| MED12 Regulates HSC-Specific Enhancers Independently of Mediator Kinase Activity to Control Hematopoiesis.
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| Aranda-Orgilles B, Saldaña-Meyer R, Wang E, Trompouki E, Fassl A, Lau S, Mullenders J, Rocha PP, Raviram R, Guillamot M, Sánchez-Díaz M, Wang K, Kayembe C, Zhang N, Amoasii L, Choudhuri A, Skok JA, Schober M, Reinberg D, Sicinski P, Schrewe H, Tsirigos A, Zon LI, Aifantis I.
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| Cell Stem Cell 19(6):784-799. doi: 10.1016/j.stem.2016.08.004. Epub 2016 Aug 25.
2016
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8 | MED12, PRC1
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| Dual role of Med12 in PRC1-dependent gene repression and ncRNA-mediated transcriptional activation.
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| Papadopoulou T, Kaymak A, Sayols S, Richly H.
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| Cell Cycle 15(11):1479-93. doi: 10.1080/15384101.2016.1175797. Epub 2016 Apr 20.
2016
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9 | ATRX, MED12, TP53
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| Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
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| Mäkinen N, Aavikko M, Heikkinen T, Taipale M, Taipale J, Koivisto-Korander R, Bützow R, Vahteristo P.
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| PLoS Genet 12(2):e1005850. doi: 10.1371/journal.pgen.1005850. eCollection 2016 Feb.
2016
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10 | MED12, OHDOX
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| Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
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| Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.
|
| Am J Med Genet A 167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.
2015
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11 | MED12
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| MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast.
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| Piscuoglio S, Murray M, Fusco N, Marchiò C, Loo FL, Martelotto LG, Schultheis AM, Akram M, Weigelt B, Brogi E, Reis-Filho JS.
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| Histopathology 67(5):719-29. doi: 10.1111/his.12712. Epub 2015 May 24.
2015
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12 | CCNC, CDK19, CDK8, MED12, MED13
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| Expression of CDK8 and CDK8-interacting Genes as Potential Biomarkers in Breast Cancer.
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| Broude EV, Győrffy B, Chumanevich AA, Chen M, McDermott MS, Shtutman M, Catroppo JF, Roninson IB.
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| Curr Cancer Drug Targets 15(8):739-49. Review.
2015
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13 | MED12
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| MED12 mutation frequency in unselected sporadic uterine leiomyomas.
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| Heinonen HR, Sarvilinna NS, Sjöberg J, Kämpjärvi K, Pitkänen E, Vahteristo P, Mäkinen N, Aaltonen LA.
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| Fertil Steril 102(4):1137-42. doi: 10.1016/j.fertnstert.2014.06.040. Epub 2014 Aug 6.
2014
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14 | MED12
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| Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.
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| Kämpjärvi K, Park MJ, Mehine M, Kim NH, Clark AD, Bützow R, Böhling T, Böhm J, Mecklin JP, Järvinen H, Tomlinson IP, van der Spuy ZM, Sjöberg J, Boyer TG, Vahteristo P.
|
| Hum Mutat 35(9):1136-41. doi: 10.1002/humu.22612. Epub 2014 Jul 21.
2014
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15 | MED12, OHDOX
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| Mutations in MED12 Cause X-Linked Ohdo Syndrome.
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| 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.
|
| Am J Hum Genet 92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
2013
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16 | MED12
|
| MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
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| Mäkinen N, Vahteristo P, Kämpjärvi K, Arola J, Bützow R, Aaltonen LA.
|
| Eur J Hum Genet 21(11):1300-3. doi: 10.1038/ejhg.2013.33. Epub 2013 Feb 27.
2013
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17 | MED12, SOX10
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| Sox10 cooperates with the mediator subunit 12 during terminal differentiation of myelinating glia.
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| Vogl MR, Reiprich S, Küspert M, Kosian T, Schrewe H, Nave KA, Wegner M.
|
| J Neurosci 33(15):6679-90. doi: 10.1523/JNEUROSCI.5178-12.2013.
2013
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18 | MED12
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| MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors.
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| Markowski DN, Huhle S, Nimzyk R, Stenman G, Löning T, Bullerdiek J.
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| Genes Chromosomes Cancer enes Chromosomes Cancer. 2012 Dec 8. doi: 10.1002/gcc.22029. [Epub ahead of print]
2012
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19 | MED12
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| MED12 mutations in leiomyosarcoma and extrauterine leiomyoma.
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| Ravegnini G, Mariño-Enriquez A, Slater J, Eilers G, Wang Y, Zhu M, Nucci MR, George S, Angelini S, Raut CP, Fletcher JA.
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| Mod Pathol od Pathol. 2012 2012
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20 | MED12
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| MED12 Controls the Response to Multiple Cancer Drugs through Regulation of TGF-β Receptor Signaling.
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| Huang S, Hölzel M, Knijnenburg T, Schlicker A, Roepman P, McDermott U, Garnett M, Grernrum W, Sun C, Prahallad A, Groenendijk FH, Mittempergher L, Nijkamp W, Neefjes J, Salazar R, Ten Dijke P, Uramoto H, Tanaka F, Beijersbergen RL, Wessels LF, Bernards R.
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| Cell 151(5):937-50. doi: 10.1016/j.cell.2012.10.035.
2012
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21 | MED12
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| Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.
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| Kämpjärvi K, Mäkinen N, Kilpivaara O, Arola J, Heinonen HR, Böhm J, Abdel-Wahab O, Lehtonen HJ, Pelttari LM, Mehine M, Schrewe H, Nevanlinna H, Levine RL, Hokland P, Böhling T, Mecklin JP, Bützow R, Aaltonen LA, Vahteristo P.
|
| Br J Cancer 107(10):1761-5. doi: 10.1038/bjc.2012.428. Epub 2012 Sep 20.
2012
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22 | FGS1, GLI3, LJFS1, MED12
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| MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
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| Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.
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| Proc Natl Acad Sci U S A 109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22. 2012
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23 | FOXA1, MED12, SPOP
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| Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.
|
| Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA.
|
| Nat Genet 44(6):685-9. doi: 10.1038/ng.2279.
2012
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24 | CDK8, FGS1, GLI3, LJFS1, MED12
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| MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
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| Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.
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| Proc Natl Acad Sci U S A 109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22.
2012
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25 | FGS1, MED12
|
| A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
|
| Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R.
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| Clin Genet 79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x.
2011
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26 | MED12
|
| MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
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| Mäkinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Böhling T, Koski TA, Launonen V, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA.
|
| Science 334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25.
2011
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27 | MED12
|
| Mediator subunit 12 is required for neutrophil development in zebrafish.
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| Keightley MC, Layton JE, Hayman JW, Heath JK, Lieschke GJ.
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| PLoS One 6(8):e23845. doi: 10.1371/journal.pone.0023845. Epub 2011 Aug 25.
2011
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28 | MED12
|
| Mediator is a transducer of amyloid-precursor-protein-dependent nuclear signalling.
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| Xu X, Zhou H, Boyer TG.
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| EMBO Rep 12(3):216-22. doi: 10.1038/embor.2010.210. Epub 2011 Feb 4.
2011
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29 | CDK8, MED12, MED13
|
| A genome-wide RNA interference screen identifies a differential role of the mediator CDK8 module subunits for GATA/ RUNX-activated transcription in Drosophila.
|
| Gobert V, Osman D, Bras S, Augé B, Boube M, Bourbon HM, Horn T, Boutros M, Haenlin M, Waltzer L.
|
| Mol Cell Biol 30(11):2837-48. Epub 2010 Apr 5.PMID: 20368357 2010
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30 | MED12, MED13
|
| The MED12-MED13 module of Mediator regulates the timing of embryo patterning in Arabidopsis.
|
| Gillmor CS, Park MY, Smith MR, Pepitone R, Kerstetter RA, Poethig RS.
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| Development 137(1):113-22.PMID: 20023166 2010
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31 | MED12
|
| Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling.
|
| Rocha PP, Scholze M, Bleiss W, Schrewe H.
|
| Development 137(16):2723-31. doi: 10.1242/dev.053660. Epub 2010 Jul 14.
2010
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32 | MED12, XCL1
|
| ATAC and Mediator coactivators form a stable complex and regulate a set of non-coding RNA genes.
|
| Krebs AR, Demmers J, Karmodiya K, Chang NC, Chang AC, Tora L.
|
| EMBO Rep 11(7):541-7. doi: 10.1038/embor.2010.75. Epub 2010 May 28.
2010
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33 | MED12
|
| Role for Med12 in regulation of Nanog and Nanog target genes
|
| Tutter AV, Kowalski MP, Baltus GA, Iourgenko V, Labow M, Li E, Kadam S.
|
| J Biol Chem. 284(6):3709-18 2009
|
34 | FGS1, MED12
|
| Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
|
| Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE.
|
| J Med Genet 46(1):9-13. Epub 2008 Sep 19.
2009
|
35 | CCNC, CDK8, MED12, MED13
|
| The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function.
|
| Knuesel MT, Meyer KD, Bernecky C, Taatjes DJ.
|
| Genes Dev 23(4):439-51.PMID: 19240132 2009
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36 | FGS1, MED12
|
| Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
|
| Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE.
|
| Am J Med Genet A 146A(23):3011-7.
2008
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37 | MED12
|
| Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
|
| Ding N, Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE, Pradhan S, Boyer TG.
|
| Mol Cell 31(3):347-59.
2008
|
38 | MED12, MED13
|
| Pygopus activates Wingless target gene transcription through the mediator complex subunits Med12 and Med13.
|
| Carrera I, Janody F, Leeds N, Duveau F, Treisman JE.
|
| Proc Natl Acad Sci U S A 105(18):6644-9. Epub 2008 May 1.PMID: 18451032 2008
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39 | MED12, FGS1
|
| A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
|
| Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ.
|
| Nat Genet 39(4):451-3. Epub 2007 Mar 4. 2007
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40 | MED12
|
| Distinct roles for Mediator Cdk8 module subunits in Drosophila development
|
| Loncle N, Boube M, Joulia L, Boschiero C, Werner M, Cribbs DL, Bourbon HM.
|
| EMBO J. 26(4):1045-54 2007
|
41 | LJFS1, MED12
|
| The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
|
| Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE.
|
| J Med Genet 44(7):472-7. Epub 2007 Mar 16.
2007
|
42 | MED12
|
| A subunit of the mediator complex regulates vertebrate neuronal development.
|
| Wang X, Yang N, Uno E, Roeder RG, Guo S.
|
| Proc Natl Acad Sci U S A 103(46):17284-9. Epub 2006 Nov 6. 2006
|
43 | MED12, CTNNB1
|
| Mediator is a transducer of Wnt/beta-catenin signaling.
|
| Kim S, Xu X, Hecht A, Boyer TG.
|
| J Biol Chem 281(20):14066-75. Epub 2006 Mar 24. 2006
|
44 | MED12
|
| The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney
|
| Hong, S.-K.; Haldin, C. E.; Lawson, N. D.; Weinstein, B. M.; Dawid, I. B.; Hukriede, N. A.
|
| Proc. Nat. Acad. Sci 102: 18473-18478 2005
|
45 | MED12
|
| Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illness.
|
| Kirov G, Georgieva L, Nikolov I, Zammit S, Jones G, Poriazova N, Tolev T, Owen R, Jones S, Owen MJ.
|
| Am J Med Genet 118B(1):16-9. 2003
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46 | MED12
|
| Polymorphism analysis of HOPA: a candidate gene for schizophrenia.
|
| Sandhu HK, Sarkar M, Turner BM, Wassink TH, Philibert RA.
|
| Am J Med Genet 123B(1):33-8. 2003
|
47 | SOX9, MED12
|
| SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.
|
| Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S.
|
| Nucleic Acids Res 30(14):3245-52. Erratum in: Nucleic Acids Res 2002 Sep 1;30(17):3917. Tibor Schomber [corrected to Schomber Tibor]. 2002
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48 | MED12
|
| Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation
|
| Friez MJ, Essop FB, Krause A, Castiglia L, ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Gokdman A, Villard L, Longshore JW.
|
| Hum Genet 106:36-39 2000
|
49 | NLGN3, MED12
|
| The structure and expression of the human neuroligin-3 gene.
|
| Philibert RA, Winfield SL, Sandhu HK, Martin BM, Ginns EI.
|
| Gene 246(1-2):303-10. 2000
|
50 | MED12
|
| The genomic structure and developmental expression patterns of the human OPA-containing gene.
|
| Philibert RA, et al.
|
| Hum Genet 105(1-2):174-8. 1999
|
51 | DYT3, OGT, MED12
|
| Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism.
|
| Nemeth AH, et al.
|
| Genomics 60(3):320-9 1999
|
52 | THRAP4, MED13, MED16, MED30, MED13L, THRAP3, MED17, MED1, MED12, MED4
|
| Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators.
|
| Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG.
|
| Mol Cell 3(3):361-70. 1999
|
53 | MED12
|
| Association of an X-chromosome dodecamer insertional variant allele with mental retardation.
|
| Philibert RA, et al.
|
| Mol Psychiatry 3(4):303-9. 1998
|
54 | ATXN2, BHLHE22, CASK, CELF3, CNPY3, EP400, FOXP2, JPH3, KMT2D, MAGI1, MAML3, MED12, MED15, NUMBL, PAXIP1, TNRC15, TNRC17, TNRC18, TNRC6A, TOX3, ZNF384
|
| cDNAs with long CAG trinucleotide repeats from human brain.
|
| Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA.
|
| Hum Genet 100(1):114-22. 1997
|