| 1 | CHD8, IDDAM
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| Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction
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| Shi X, Lu C, Corman A, Nikish A, Zhou Y, Platt RJ, Iossifov I, Zhang F, Pan JQ, Sanjana NE.
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| Am J Hum Genet. Oct 5;110(10):1750-1768. doi: 10.1016/j.ajhg.2023.09.004. 2023
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| 2 | CHD8
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| Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling
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| Tu Z, Fan C, Davis AK, Hu M, Wang C, Dandamudi A, Seu KG, Kalfa TA, Lu QR, Zheng Y.
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| Cell Rep Jul 12;40(2):111072. doi: 10.1016/j.celrep.2022.111072 2022
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| 3 | CHD3, CHD4, CHD8
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| Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
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| Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Burnetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G
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| Am J Hum Genet. Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21 2021
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| 4 | CHD8
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| The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders.
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| Weissberg O, Elliott E.
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| Genes (Basel). Jul 26;12(8):1133. doi: 10.3390/genes12081133 2021
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| 5 | CHD8
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| The autism-associated protein CHD8 is required for cerebellar development and motor function.
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| Kawamura A, Katayama Y, Kakegawa W, Ino D, Nishiyama M, Yuzaki M, Nakayama KI.
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| Cell Rep. Apr 6;35(1):108932. doi: 10.1016/j.celrep.2021.108932. 2021
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| 6 | CHD8
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| CHD8 safeguards early neuroectoderm differentiation in human ESCs and protects from apoptosis during neurogenesis.
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| Ding S, Lan X, Meng Y, Yan C, Li M, Li X, Chen J, Jiang W.
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| Cell Death Dis. Oct 22;12(11):981. doi: 10.1038/s41419-021-04292-5 2021
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| 7 | CHD8, IDDAM
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| De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. 2020 . PMID:
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| An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y
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| Hum Genet. Apr;139(4):499-512. doi: 10.1007/s00439-020-02115-9. Epub 2020 Jan 24 2020
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| 8 | CHD8, IDDAM
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| The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
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| Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K.
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| Am J Med Genet C Semin Med Genet. Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. 2019
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| 9 | CHD8, IDDAM
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| A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
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| Merner N, Forgeot d'Arc B, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L, Rouleau GA, Ernst C.
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| Am J Med Genet A. May;170A(5):1225-35. doi: 10.1002/ajmg.a.37566. Epub 2016 Jan 20. 2016
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| 10 | CHD8
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| Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling.
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| Durak O, Gao F, Kaeser-Woo YJ, Rueda R, Martorell AJ, Nott A, Liu CY, Watson LA, Tsai LH.
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| Nat Neurosci. Nov;19(11):1477-1488. doi: 10.1038/nn.4400. Epub 2016 Oct 3. 2016
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| 11 | CHD8
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| The chromatin Remodeler CHD8 is required for activation of progesterone receptor-dependent enhancers.
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| Ceballos-Chávez M, Subtil-Rodríguez A, Giannopoulou EG, Soronellas D, Vázquez-Chávez E, Vicent GP, Elemento O, Beato M, Reyes JC.
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| PLoS Genet. Apr 20;11(4):e1005174. doi: 10.1371/journal.pgen.1005174. 2015
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| 12 | CHD8
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| The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes.
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| Subtil-Rodríguez A, Vázquez-Chávez E, Ceballos-Chávez M, Rodríguez-Paredes M, Martín-Subero JI, Esteller M, Reyes JC.
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| Nucleic Acids Res. Feb;42(4):2185-96. doi: 10.1093/nar/gkt1161. Epub 2013 Nov 21. 2014
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| 13 | CHD8, KATNAL2
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| Patterns and rates of exonic de novo mutations in autism spectrum disorders.
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| Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ.
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| Nature 485(7397):242-5. doi: 10.1038/nature11011.
2012
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| 14 | CHD7, CHD8, FAM124B
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| Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex
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| Batsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S.
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| PLoS One. 7(12):e52640. doi: 10.1371/journal.pone.0052640. Epub 2012 Dec 21. 2012
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| 15 | ASH2L, CHD8, HOXA2, RBBP5, WDR5
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| Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.
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| Yates JA, Menon T, Thompson BA, Bochar DA.
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| FEBS Lett 584(4):689-93. Epub 2010 Jan 17. 2010
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| 16 | CHD7, CHD8
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| CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
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| Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.
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| Hum Mol Genet 19(14):2858-66. Epub 2010 May 7.PMID: 20453063 2010
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| 17 | CHD8
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| CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis.
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| Nishiyama M, Oshikawa K, Tsukada Y, Nakagawa T, Iemura S, Natsume T, Fan Y, Kikuchi A, Skoultchi AI, Nakayama KI.
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| Nat Cell Biol. 11(2):172-82 2009
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| 18 | CHD8
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| The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene
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| RodrÃguez-Paredes M, Ceballos-Chávez M, Esteller M, GarcÃa-DomÃnguez M, Reyes JC.
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| Nucleic Acids Res. 37(8):2449-60 2009
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| 19 | CTCF, CHD8
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| Cohesins functionally associate with CTCF on mammalian chromosome arms.
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| Parelho V, Hadjur S, Spivakov M, Leleu M, Sauer S, Gregson HC, Jarmuz A, Canzonetta C, Webster Z, Nesterova T, Cobb BS, Yokomori K, Dillon N, Aragon L, Fisher AG, Merkenschlager M.
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| Cell 132(3):422-33. Epub 2008 Jan 31. 2008
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| 20 | CHD8
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| CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.
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| Thompson BA, Tremblay V, Lin G, Bochar DA.
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| Mol Cell Biol 28(12):3894-904. Epub 2008 Mar 31.PMID: 18378692 2008
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| 21 | CHD8, ZNF143
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| CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription.
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| Yuan CC, Zhao X, Florens L, Swanson SK, Washburn MP, Hernandez N.
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| Mol Cell Biol 27(24):8729-38. Epub 2007 Oct 15. 2007
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| 22 | CTCF, CHD8
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| CTCF-dependent chromatin insulator is linked to epigenetic remodeling.
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| Ishihara K, Oshimura M, Nakao M.
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| Mol Cell 23(5):733-42. 2006
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| 23 | CHD8
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| Early embryonic death in mice lacking the beta-catenin-binding protein Duplin.
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| Nishiyama M, Nakayama K, Tsunematsu R, Tsukiyama T, Kikuchi A, Nakayama KI.
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| Mol Cell Biol 24(19):8386-94. 2004
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| 24 | CHD8
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| Nuclear localization of Duplin, a beta-catenin-binding protein, is essential for its inhibitory activity on the Wnt signaling pathway.
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| Kobayashi M, Kishida S, Fukui A, Michiue T, Miyamoto Y, Okamoto T, Yoneda Y, Asashima M, Kikuchi A.
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| J Biol Chem 277(8):5816-22. Epub 2001 Dec 13. 2002
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| 25 | ANKRD36B, BCOR, BEND3, CACHD1, CHD8, CNNM4, DDX55, DHTKD1, EIF2C4, EPB41L5, EPG5, FAM160B1, GBA2, GPAM, GPR107, HERC4, KIAA1586, KIAA1609, KIF16B, MAGEE1, MAGI3, MED12L, MED12L, METTL14, MIER1, MOV10, NCKAP5L, NCOA5, PCDHB16, RNF213, SEMA4G, SFMBT2, SMURF1, TNRC6C, TRPM3, USP37, VAT1L, WDFY4, WDR19, WNK3, ZBTB26, ZNF532, ZPR1 ZNF319, ZSWIM5, ZSWIM6
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| Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O.
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| DNA Res 7(4):273-81. 2000
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