| 1 | DDFHID, DOT1L
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| Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
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| Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ.
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| Am J Hum Genet. Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11 2023
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| 2 | DOT1L
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| DOT1L bridges transcription and heterochromatin formation at mammalian pericentromeres.
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| Malla AB, Yu H, Farris D, Kadimi S, Lam TT, Cox AL, Smith ZD, Lesch BJ.
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| EMBO Rep. Aug 3;24(8):e56492. doi: 10.15252/embr.202256492. Epub 2023 Jun 15. 2023
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| 3 | DOT1L
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| Histone methyltransferase DOT1L is essential for self-renewal of germline stem cells.
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| Lin H, Cheng K, Kubota H, Lan Y, Riedel SS, Kakiuchi K, Sasaki K, Bernt KM, Bartolomei MS, Luo M, Wang PJ.
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| Genes Dev. Jun 1;36(11-12):752-763. doi: 10.1101/gad.349550.122. Epub 2022 Jun 23. 2022
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| 4 | DOT1L
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| DOT1L modulates the senescence-associated secretory phenotype through epigenetic regulation of IL1A
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| Leon KE, Buj R, Lesko E, Dahl ES, Chen CW, Tangudu NK, Imamura-Kawasawa Y, Kossenkov AV, Hobbs RP, Aird KM.
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| J Cell Biol. Aug 2;220(8):e202008101. doi: 10.1083/jcb.202008101. Epub 2021 May 26 2021
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| 5 | DOT1L
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| Hypoxia induces DOT1L in articular cartilage to protect against osteoarthritis.
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| De Roover A, Núñez AE, Cornelis FM, Cherifi C, Casas-Fraile L, Sermon A, Cailotto F, Lories RJ, Monteagudo S.
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| JCI Insight. Dec 22;6(24):e150451. doi: 10.1172/jci.insight.150451 2021
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| 6 | DOT1L
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| Histone methyltransferase DOT1L controls state-specific identity during B cell differentiation.
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| Aslam MA, Alemdehy MF, Kwesi-Maliepaard EM, Muhaimin FI, Caganova M, Pardieck IN, van den Brand T, van Welsem T, de Rink I, Song JY, de Wit E, Arens R, Jacobs H, van Leeuwen F.
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| EMBO Rep. Feb 3;22(2):e51184. doi: 10.15252/embr.202051184. Epub 2021 Jan 7. 2021
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| 7 | DOT1L
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| The Histone Methyltransferase DOT1L Is Essential for Humoral Immune Responses
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| Kealy L, Di Pietro A, Hailes L, Scheer S, Dalit L, Groom JR, Zaph C, Good-Jacobson KL.
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| Cell Rep. Dec 15;33(11):108504. doi: 10.1016/j.celrep.2020.108504. 2020
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| 8 | DOT1L
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| DOT1L promotes progenitor proliferation and primes neuronal layer identity in the developing cerebral cortex
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| Franz H, Villarreal A, Heidrich S, Videm P, Kilpert F, Mestres I, Calegari F, Backofen R, Manke T, Vogel T.
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| Nucleic Acids Res. Jan 10;47(1):168-183. doi: 10.1093/nar/gky953. 2019
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| 9 | DOT1L
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| DOT1L and H3K79 Methylation in Transcription and Genomic Stability.
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| Wood K, Tellier M, Murphy S.
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| Biomolecules. Feb 27;8(1):11. doi: 10.3390/biom8010011. 2018
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| 10 | DOT1L
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| DOT1L safeguards cartilage homeostasis and protects against osteoarthritis.
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| Monteagudo S, Cornelis FMF, Aznar-Lopez C, Yibmantasiri P, Guns LA, Carmeliet P, Cailotto F, Lories RJ.
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| Nat Commun. Jun 19;8:15889. doi: 10.1038/ncomms15889. 2017
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| 11 | DOT1L, SIRT1
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| DOT1L inhibits SIRT1-mediated epigenetic silencing to maintain leukemic gene expression in MLL-rearranged leukemia.
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| Chen CW, Koche RP, Sinha AU, Deshpande AJ, Zhu N, Eng R, Doench JG, Xu H, Chu SH, Qi J, Wang X, Delaney C, Bernt KM, Root DE, Hahn WC, Bradner JE, Armstrong SA.
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| Nat Med 21(4):335-43. doi: 10.1038/nm.3832. Epub 2015 Mar 30.
2015
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| 12 | DOT1L
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| Dot1L mediated histone H3 lysine79 methylation is essential to meiosis progression in mouse oocytes.
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| Wang X, Gao W, Ma X, Wang X, Song C, Huang X, Liu H.
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| Neuro Endocrinol Lett 35(6):523-30.
2014
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| 13 | DOT1L
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| The emerging roles of DOT1L in leukemia and normal development.
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| McLean CM, Karemaker ID, van Leeuwen F.
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| Leukemia 28(11):2131-8. doi: 10.1038/leu.2014.169. Epub 2014 May 23. Review.
2014
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| 14 | DOT1L, KMT2A, MLLT1, MLLT3
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| Targeting recruitment of disruptor of telomeric silencing 1-like (DOT1L): characterizing the interactions between DOT1L and mixed lineage leukemia (MLL) fusion proteins.
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| Shen C, Jo SY, Liao C, Hess JL, Nikolovska-Coleska Z.
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| J Biol Chem 288(42):30585-96. doi: 10.1074/jbc.M113.457135. Epub 2013 Sep 1.
2013
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| 15 | DOT1L, KMT2A, RNF20
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| Histone H2B ubiquitin ligase RNF20 is required for MLL-rearranged leukemia.
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| Wang E, Kawaoka S, Yu M, Shi J, Ni T, Yang W, Zhu J, Roeder RG, Vakoc CR.
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| Proc Natl Acad Sci U S A 110(10):3901-6. doi: 10.1073/pnas.1301045110. Epub 2013 Feb 14.
2013
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| 16 | DOT1L
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| DOT1L-mediated H3K79 methylation in chromatin is dispensable for Wnt pathway-specific and other intestinal epithelial functions.
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| Ho LL, Sinha A, Verzi M, Bernt KM, Armstrong SA, Shivdasani RA.
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| Mol Cell Biol 33(9):1735-45. doi: 10.1128/MCB.01463-12. Epub 2013 Feb 19.
2013
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| 17 | DOT1L
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| Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack
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| Oksenych V, Zhovmer A, Ziani S, Mari PO, Eberova J, Nardo T, Stefanini M, Giglia-Mari G, Egly JM, Coin F.
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| PLoS Genet. 9(7):e1003611. doi: 10.1371/journal.pgen.1003611. Epub 2013 Jul 4. 2013
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| 18 | DOT1L
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| Human histone H3K79 methyltransferase DOT1L protein [corrected] binds actively transcribing RNA polymerase II to regulate gene expression.
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| Kim SK, Jung I, Lee H, Kang K, Kim M, Jeong K, Kwon CS, Han YM, Kim YS, Kim D, Lee D.
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| J Biol Chem 287(47):39698-709. doi: 10.1074/jbc.M112.384057. Epub 2012 Sep 25. Erratum in: J Biol Chem. 2013 Jan 4;288(1):295.
2012
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| 19 | DOT1L
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| Deficiency of H3K79 histone methyltransferase Dot1-like protein (DOT1L) inhibits cell proliferation.
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| Kim W, Kim R, Park G, Park JW, Kim JE.
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| J Biol Chem 287(8):5588-99. doi: 10.1074/jbc.M111.328138. Epub 2011 Dec 21.
2012
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| 20 | DOT1L
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| DOT1L regulates dystrophin expression and is critical for cardiac function.
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| Nguyen AT, Xiao B, Neppl RL, Kallin EM, Li J, Chen T, Wang DZ, Xiao X, Zhang Y.
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| Genes Dev 25(3):263-74.
2011
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| 21 | DOT1L
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| DOT1L, the H3K79 methyltransferase, is required for MLL-AF9-mediated leukemogenesis.
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| Nguyen AT, Taranova O, He J, Zhang Y.
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| Blood 117(25):6912-22. Epub 2011 Apr 26.
2011
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| 22 | DOT1L, KMT2A, MLLT3
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| DOT1L, the H3K79 methyltransferase, is required for MLL-AF9-mediated leukemogenesis.
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| Nguyen AT, Taranova O, He J, Zhang Y.
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| Blood 117(25):6912-22. doi: 10.1182/blood-2011-02-334359. Epub 2011 Apr 26.
2011
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| 23 | DOT1L, STAT1
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| A novel disrupter of telomere silencing 1-like (DOT1L) interaction is required for signal transducer and activator of transcription 1 (STAT1)-activated gene expression.
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| Shah S, Henriksen MA.
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| J Biol Chem 286(48):41195-204. doi: 10.1074/jbc.M111.284190. Epub 2011 Oct 15.
2011
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| 24 | DOT1L
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| Essential role of DOT1L in maintaining normal adult hematopoiesis.
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| Nguyen AT, He J, Taranova O, Zhang Y.
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| Cell Res 21(9):1370-3. doi: 10.1038/cr.2011.115. Epub 2011 Jul 19. No abstract available.
2011
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| 25 | DOT1L, ELL2, KMT2A
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| The eleven-nineteen lysine-rich leukemia gene (ELL2) influences the histone H3 protein modifications accompanying the shift to secretory immunoglobulin heavy chain mRNA production.
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| Milcarek C, Albring M, Langer C, Park KS.
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| J Biol Chem 286(39):33795-803. doi: 10.1074/jbc.M111.272096. Epub 2011 Aug 9.
2011
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| 26 | DOT1L
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| Early mammalian erythropoiesis requires the Dot1L methyltransferase.
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| Feng Y, Yang Y, Ortega MM, Copeland JN, Zhang M, Jacob JB, Fields TA, Vivian JL, Fields PE.
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| Blood lood. 2010 Aug 26. [Epub ahead of print]PMID: 20798234 2010
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| 27 | DOT1L
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| Characterization of the DOT1L network: implications of diverse roles for DOT1L.
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| Park G, Gong Z, Chen J, Kim JE.
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| Protein J 29(3):213-23.PMID: 20431927 2010
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| 28 | DOT1L
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| Targeting DOT1L action and interactions in leukemia: the role of DOT1L in transformation and development.
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| Barry ER, Corry GN, Rasmussen TP.
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| Expert Opin Ther Targets 14(4):405-18. Review.PMID: 20230194 2010
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| 29 | DOT1L
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| A lysine-rich region in Dot1p is crucial for direct interaction with H2B ubiquitylation and high level methylation of H3K79.
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| Oh S, Jeong K, Kim H, Kwon CS, Lee D.
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| Biochem Biophys Res Commun 399(4):512-7. Epub 2010 Aug 3.PMID: 20678485 2010
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| 30 | DOT1L, MLLT10
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| The leukemia-associated Mllt10/Af10-Dot1l are Tcf4/β-catenin coactivators essential for intestinal homeostasis.
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| Mahmoudi T, Boj SF, Hatzis P, Li VS, Taouatas N, Vries RG, Teunissen H, Begthel H, Korving J, Mohammed S, Heck AJ, Clevers H.
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| PLoS Biol 8(11):e1000539.
2010
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| 31 | DOT1L
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| Impaired recruitment of the histone methyltransferase DOT1L contributes to the incomplete reactivation of tumor suppressor genes upon DNA demethylation.
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| Jacinto FV, Ballestar E, Esteller M.
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| Oncogene 28(47):4212-24. Epub 2009 Sep 7.PMID: 19734945 2009
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| 32 | DOT1L
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| DOT1L/KMT4 recruitment and H3K79 methylation are ubiquitously coupled with gene transcription in mammalian cells.
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| Steger DJ, Lefterova MI, Ying L, Stonestrom AJ, Schupp M, Zhuo D, Vakoc AL, Kim JE, Chen J, Lazar MA, Blobel GA, Vakoc CR.
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| Mol Cell Biol 28(8):2825-39. Epub 2008 Feb 19.PMID: 18285465 2008
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| 33 | DOT1L
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| The histone H3K79 methyltransferase Dot1L is essential for mammalian development and heterochromatin structure.
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| Jones B, Su H, Bhat A, Lei H, Bajko J, Hevi S, Baltus GA, Kadam S, Zhai H, Valdez R, Gonzalo S, Zhang Y, Li E, Chen T.
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| PLoS Genet 4(9):e1000190.PMID: 18787701 2008
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| 34 | DOT1L, MLLT1
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| A role for the MLL fusion partner ENL in transcriptional elongation and chromatin modification.
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| Mueller D, Bach C, Zeisig D, Garcia-Cuellar MP, Monroe S, Sreekumar A, Zhou R, Nesvizhskii A, Chinnaiyan A, Hess JL, Slany RK.
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| Blood 110(13):4445-54. Epub 2007 Sep 12.PMID: 17855633 2007
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| 35 | DOT1L
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| hDOT1L links histone methylation to leukemogenesis.
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| Okada Y, Feng Q, Lin Y, Jiang Q, Li Y, Coffield VM, Su L, Xu G, Zhang Y.
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| Cell 121(2):167-78. 2005
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| 36 | DOT1L
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| Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase.
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| Min J, Feng Q, Li Z, Zhang Y, Xu RM.
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| Cell 112(5):711-23. 2003
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| 37 | DOT1L
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| Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain.
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| Feng Q, Wang H, Ng HH, Erdjument-Bromage H, Tempst P, Struhl K, Zhang Y.
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| Curr Biol 12(12):1052-8. 2002
|