| 1 | DEL9Q34, EHMT1, KLEFS2, KMT2C
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| Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
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| Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM.
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| PLoS Genet 13(10):e1006864. doi: 10.1371/journal.pgen.1006864. eCollection 2017 Oct. 2017
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| 2 | DEL9Q34, EHMT1
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| Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
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| Bock I, Németh K, Pentelényi K, Balicza P, Balázs A, Molnár MJ, Román V, Nagy J, Lévay G, Kobolák J, Dinnyés A.
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| Gene 595(2):131-141. doi: 10.1016/j.gene.2016.09.027.
2016
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| 3 | EHMT1
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| Euchromatin histone methyltransferase 1 regulates cortical neuronal network development.
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| Bart Martens M, Frega M, Classen J, Epping L, Bijvank E, Benevento M, van Bokhoven H, Tiesinga P, Schubert D, Nadif Kasri N.
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| Sci Rep 6:35756. doi: 10.1038/srep35756.
2016
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| 4 | EHMT1
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| Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling.
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| Benevento M, Iacono G, Selten M, Ba W, Oudakker A, Frega M, Keller J, Mancini R, Lewerissa E, Kleefstra T, Stunnenberg HG, Zhou H, van Bokhoven H, Nadif Kasri N.
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| Neuron 91(2):341-55. doi: 10.1016/j.neuron.2016.06.003.
2016
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| 5 | EHMT1, EHMT2
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| Differential patterns of histone methylase EHMT2 and its catalyzed histone modifications H3K9me1 and H3K9me2 during maturation of central auditory system.
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| Ebbers L, Runge K, Nothwang HG.
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| Cell Tissue Res 365(2):247-64. doi: 10.1007/s00441-016-2401-2. 2016
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| 6 | DEL9Q34, EHMT1
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| A structured assessment of motor function and behavior in patients with Kleefstra syndrome.
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| Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB.
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| Eur J Med Genet 59(4):240-8. doi: 10.1016/j.ejmg.2016.01.004.
2016
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| 7 | EHMT1, EHMT2
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| Regulation of cell differentiation and function by the euchromatin histone methyltranserfases G9a and GLP.
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| Kramer JM.
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| Biochem Cell Biol 94(1):26-32. doi: 10.1139/bcb-2015-0017. Review.
2016
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| 8 | EHMT1, EHMT2
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| EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression.
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| Renneville A, Van Galen P, Canver MC, McConkey M, Krill-Burger JM, Dorfman DM, Holson EB, Bernstein BE, Orkin SH, Bauer DE, Ebert BL.
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| Blood 126(16):1930-9. doi: 10.1182/blood-2015-06-649087.
2015
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| 9 | EHMT1, EHMT2, WIZ, ZNF644
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| The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression.
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| Bian C, Chen Q, Yu X.
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| Elife 4. doi: 10.7554/eLife.05606. Erratum in: Elife. 2015;4. doi: 10.7554/eLife.08168.
2015
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| 10 | EHMT1, EHMT2
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| Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.
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| Balan S, Iwayama Y, Maekawa M, Toyota T, Ohnishi T, Toyoshima M, Shimamoto C, Esaki K, Yamada K, Iwata Y, Suzuki K, Ide M, Ota M, Fukuchi S, Tsujii M, Mori N, Shinkai Y, Yoshikawa T.
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| Mol Autism 5(1):49. doi: 10.1186/2040-2392-5-49.
2014
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| 11 | DEL9Q34, EHMT1
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| Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
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| Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S.
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| Mol Cytogenet 7(1):74. doi: 10.1186/s13039-014-0074-7.
2014
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| 12 | EHMT1, PRDM16
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| EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.
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| Ohno H, Shinoda K, Ohyama K, Sharp LZ, Kajimura S.
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| Nature 504(7478):163-7. doi: 10.1038/nature12652.
2013
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| 13 | EHMT1, EHMT2
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| Histone H3 lysine 9 methyltransferases, G9a and GLP are essential for cardiac morphogenesis.
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| Inagawa M, Nakajima K, Makino T, Ogawa S, Kojima M, Ito S, Ikenishi A, Hayashi T, Schwartz RJ, Nakamura K, Obayashi T, Tachibana M, Shinkai Y, Maeda K, Miyagawa-Tomita S, Takeuchi T.
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| Mech Dev 130(11-12):519-31. doi: 10.1016/j.mod.2013.07.002.
2013
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| 14 | EHMT1
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| Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
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| Balemans MC, Kasri NN, Kopanitsa MV, Afinowi NO, Ramakers G, Peters TA, Beynon AJ, Janssen SM, van Summeren RC, Eeftens JM, Eikelenboom N, Benevento M, Tachibana M, Shinkai Y, Kleefstra T, van Bokhoven H, Van der Zee CE.
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| Hum Mol Genet 22(5):852-66. doi: 10.1093/hmg/dds490.
2013
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| 15 | DEL9Q34, EHMT1, KMT2C, MBD5, NR1I3, SMARCB1
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| Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability.
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| Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.
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| Am J Hum Genet 91(1):73-82. Epub 2012 Jun 21. 2012
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| 16 | EHMT1
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| EHMT1 protein binds to nuclear factor-κB p50 and represses gene expression.
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| Ea CK, Hao S, Yeo KS, Baltimore D.
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| J Biol Chem 287(37):31207-17. doi: 10.1074/jbc.M112.365601.
2012
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| 17 | DEL9Q34, EHMT1
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| Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
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| Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.
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| Am J Hum Genet 91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003.
2012
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| 18 | DEL9Q34, EHMT1
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| Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
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| Nillesen WM, Yntema HG, Moscarda M, Verbeek NE, Wilson LC, Cowan F, Schepens M, Raas-Rothschild A, Gafni-Weinstein O, Zollino M, Vijzelaar R, Neri G, Nelen M, Bokhoven H, Giltay J, Kleefstra T.
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| Hum Mutat 32(7):853-9. doi: 10.1002/humu.21523.
2011
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| 19 | CDH1, DNMT3A, EHMT1, MPHOSPH8, SETDB2
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| Methyl-H3K9-binding protein MPP8 mediates E-cadherin gene silencing and promotes tumour cell motility and invasion.
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| Kokura K, Sun L, Bedford MT, Fang J.
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| EMBO J 29(21):3673-87. Epub 2010 Sep 24.PMID: 20871592 2010
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| 20 | DEL9Q34, EHMT1
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| Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
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| Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR.
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| Hum Mol Genet 18(11):1924-36. Epub 2009 Mar 17.
2009
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| 21 | DEL9Q34, EHMT1
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| Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
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| Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG.
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| J Med Genet 46(9):598-606. Epub 2009 Mar 4.
2009
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| 22 | EHMT1
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| The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules.
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| Collins RE, Northrop JP, Horton JR, Lee DY, Zhang X, Stallcup MR, Cheng X.
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| Nat Struct Mol Biol 15(3):245-50. Epub 2008 Feb 10. 2008
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| 23 | EHMT1, DEL9Q34
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| Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
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| Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H.
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| Am J Hum Genet 79(2):370-7. Epub 2006 Jun 13. 2006
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| 24 | EHMT1, EHMT2, WIZ
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| Zinc finger protein Wiz links G9a/GLP histone methyltransferases to the co-repressor molecule CtBP.
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| Ueda J, Tachibana M, Ikura T, Shinkai Y.
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| J Biol Chem 281(29):20120-8.
2006
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| 25 | DEL9Q34, EHMT1
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| Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
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| Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H.
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| J Med Genet 42(4):299-306. 2005
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| 26 | DUP9QD, EHMT1
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| Cryptic duplication and deletion of 9q34.3 --> qter in a family with a t(9;22)(q34.3;p11.2).
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| Sanger TM, Olney AH, Zaleski D, Pickering D, Nelson M, Sanger WG, Dave BJ.
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| Am J Med Genet A 138(1):51-5. 2005
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| 27 | EHMT1
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| Histone H3-K9 methyltransferase ESET is essential for early development.
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| Dodge JE, Kang YK, Beppu H, Lei H, Li E.
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| Mol Cell Biol 24(6):2478-86. 2004
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| 28 | EHMT1
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| A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.
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| Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y.
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| Science 296(5570):1132-6. 2002
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| 29 | ABLIM2, ACSS1, ATCAY, ATP13A1, BRSK1, CAPRIN2, CCDC132, CDH23, CHAMP1, COL27A1, EHMT1, FBN3, FNDC1, GMPPB, GPR123, GPS2, HHIPL1, IRF2BPL, JPH4, KBTBD8, KIAA1841, KIRREL3, KIRREL3, MEGF10, MEGF11, MLK4, NTNG2, PHF17, PHYHIPL, RANGAP1, SEMA6C, SLX4, SPIRE2, SRRM4, ST6GAL2, SYVN1, TTBK1, VCPIP1, WDR22, ZNF286A, ZNF333, ZNF512, ZNF528
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| Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O.
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| DNA Res 8(2):85-95. 2001
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