| 1 | ASH2L, CHARGE, CHD7, KABUK1, KMT2D, RBBP5, WDR5
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| CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
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| Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.
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| Am J Hum Genet 100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.
2017
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| 2 | CREBBP, EP300, KMT2C, KMT2D
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| MLL3/MLL4 are required for CBP/p300 binding on enhancers and super-enhancer formation in brown adipogenesis.
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| Lai B, Lee JE, Jang Y, Wang L, Peng W, Ge K.
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| Nucleic Acids Res 45(11):6388-6403. doi: 10.1093/nar/gkx234.
2017
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| 3 | KABUK1, KDM6A, KMS3, KMT2D
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| Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
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| Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
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| Hum Mutat 37(9):847-64. doi: 10.1002/humu.23026.
2016
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| 4 | KMT2C, KMT2D, MAFA, MAFB
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| MLL3 and MLL4 Methyltransferases Bind to the MAFA and MAFB Transcription Factors to Regulate Islet β-Cell Function.
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| Scoville DW, Cyphert HA, Liao L, Xu J, Reynolds A, Guo S, Stein R.
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| Diabetes 64(11):3772-83. doi: 10.2337/db15-0281. Epub 2015 Jul 15.
2015
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| 5 | KMT2D
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| Mll2 is required for H3K4 trimethylation on bivalent promoters in embryonic stem cells, whereas Mll1 is redundant.
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| Denissov S, Hofemeister H, Marks H, Kranz A, Ciotta G, Singh S, Anastassiadis K, Stunnenberg HG, Stewart AF.
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| Development 141(3):526-37. doi: 10.1242/dev.102681. Epub 2014 Jan 14. 2014
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| 6 | KABUK1, KDM6A, KMS3, KMT2D
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| MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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| Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.
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| Am J Med Genet A 161(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. 2013
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| 7 | KABUK1, KMT2D
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| MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
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| Banka S, Howard E, Bunstone S, Chandler KE, Kerr B, Lachlan K, McKee S, Mehta SG, Tavares AL, Tolmie J, Donnai D.
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| Clin Genet 83(5):467-71. doi: 10.1111/j.1399-0004.2012.01955.x. Epub 2012 Sep 18. 2013
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| 8 | KMT2D
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| Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice.
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| Kerimoglu C, Agis-Balboa RC, Kranz A, Stilling R, Bahari-Javan S, Benito-Garagorri E, Halder R, Burkhardt S, Stewart AF, Fischer A.
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| J Neurosci 33(8):3452-64. doi: 10.1523/JNEUROSCI.3356-12.2013. Erratum in: J Neurosci. 2013 Apr 17;33(16):7108. 2013
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| 9 | KMT2D, MAGOH, MAGOHB
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| The histone methyltransferase KMT2B is required for RNA polymerase II association and protection from DNA methylation at the MagohB CpG island promoter.
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| Ladopoulos V, Hofemeister H, Hoogenkamp M, Riggs AD, Stewart AF, Bonifer C.
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| Mol Cell Biol 33(7):1383-93. doi: 10.1128/MCB.01721-12. Epub 2013 Jan 28. 2013
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| 10 | KMT2D
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| Mutations in Mll2, an H3K4 methyltransferase, result in insulin resistance and impaired glucose tolerance in mice.
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| Goldsworthy M, Absalom NL, Schröter D, Matthews HC, Bogani D, Moir L, Long A, Church C, Hugill A, Anstee QM, Goldin R, Thursz M, Hollfelder F, Cox RD.
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| PLoS One 8(6):e61870. doi: 10.1371/journal.pone.0061870. Print 2013. 2013
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| 11 | KABUK1, KDM6A, KMS3, KMT2D
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| Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome.
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| Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C.
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| Am J Hum Genet 90(1):119-24. Epub 2011 Dec 22. 2012
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| 12 | KMT2D, PIGP
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| The histone methyltransferase Wbp7 controls macrophage function through GPI glycolipid anchor synthesis.
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| Austenaa L, Barozzi I, Chronowska A, Termanini A, Ostuni R, Prosperini E, Stewart AF, Testa G, Natoli G.
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| Immunity 36(4):572-85. doi: 10.1016/j.immuni.2012.02.016. Epub 2012 Apr 5. 2012
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| 13 | KABUK1, KMT2D
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| MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
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| Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT.
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| Hum Mutat 32(2):E2018-25. doi: 10.1002/humu.21416. Epub 2010 Dec 7.PMID: 21280141 2011
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| 14 | KABUK1, KMT2D
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| Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
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| Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ.
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| Am J Med Genet A 155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10. 2011
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| 15 | GNAI3, KMT2D, SGK1
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| Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
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| Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA.
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| Nature 476(7360):298-303. doi: 10.1038/nature10351. 2011
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| 16 | KABUK1, KMT2D
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| A mutation screen in patients with Kabuki syndrome.
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| Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
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| Hum Genet 130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. 2011
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| 17 | HOXC6, KMT2C, KMT2D
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| HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment.
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| Ansari KI, Hussain I, Shrestha B, Kasiri S, Mandal SS.
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| J Mol Biol 411(2):334-49. doi: 10.1016/j.jmb.2011.05.050. Epub 2011 Jun 12.
2011
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| 18 | KABUK1, KMT2D
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| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
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| Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J.
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| Nat Genet 42(9):790-3. Epub 2010 Aug 15.PMID: 20711175 2010
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| 19 | KMT2D
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| MLL2 is required in oocytes for bulk histone 3 lysine 4 trimethylation and transcriptional silencing.
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| Andreu-Vieyra CV, Chen R, Agno JE, Glaser S, Anastassiadis K, Stewart AF, Matzuk MM.
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| PLoS Biol 8(8). pii: e1000453. doi: 10.1371/journal.pbio.1000453. 2010
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| 20 | KMT2A, KMT2D
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| Alterations of the CxxC domain preclude oncogenic activation of mixed-lineage leukemia 2.
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| Bach C, Mueller D, Buhl S, Garcia-Cuellar MP, Slany RK.
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| Oncogene 28(6):815-23. Epub 2008 Dec 8.PMID: 19060922 [ 2009
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| 21 | ASH2L, KMT2A, KMT2B, KMT2C, KMT2D, RBBP5, SETD1A, WDR5, WDR82
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| Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.
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| Wu M, Wang PF, Lee JS, Martin-Brown S, Florens L, Washburn M, Shilatifard A.
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| Mol Cell Biol 28(24):7337-44. Epub 2008 Oct 6. 2008
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| 22 | CXXC1, KMT2A, KMT2D, SETD1A
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| Human CpG binding protein interacts with MLL1, MLL2 and hSet1 and regulates Hox gene expression.
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| Ansari KI, Mishra BP, Mandal SS.
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| Biochim Biophys Acta 1779(1):66-73. Epub 2007 Dec 3.PMID: 18082152 2008
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| 23 | KMT2D
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| Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.
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| Issaeva I, Zonis Y, Rozovskaia T, Orlovsky K, Croce CM, Nakamura T, Mazo A, Eisenbach L, Canaani E.
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| Mol Cell Biol 27(5):1889-903. Epub 2006 Dec 18.PMID: 17178841 2007
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| 24 | ESR1, KMT2D
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| Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.
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| Mo R, Rao SM, Zhu YJ.
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| J Biol Chem 281(23):15714-20. Epub 2006 Apr 7.PMID: 16603732 2006
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| 25 | KMT2D, MTM1, NSD2, SETDB1
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| SET domain proteins modulate chromatin domains in eu- and heterochromatin.
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| Jenuwein T, et al.
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| Cell Mol Life Sci 54(1):80-93. Review. 1998
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| 26 | KMT2D
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| Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
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| Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E.
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| Oncogene 15(5):549-60. 1997
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| 27 | ATXN2, BHLHE22, CASK, CELF3, CNPY3, EP400, FOXP2, JPH3, KMT2D, MAGI1, MAML3, MED12, MED15, NUMBL, PAXIP1, TNRC15, TNRC17, TNRC18, TNRC6A, TOX3, ZNF384
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| cDNAs with long CAG trinucleotide repeats from human brain.
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| Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA.
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| Hum Genet 100(1):114-22. 1997
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| 28 | KMT2A, KMT2D
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| Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
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| Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E.
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| Oncogene 15(5):549-60.PMID: 9247308 1997
|