1 | NDDIH, POLR2A
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| De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
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| Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.
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| Am J Hum Genet 105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.
2019
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2 | POLR2A
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| cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression.
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| Watts JA, Burdick J, Daigneault J, Zhu Z, Grunseich C, Bruzel A, Cheung VG.
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| Am J Hum Genet 105(4):677-688. doi: 10.1016/j.ajhg.2019.08.003. Epub 2019 Sep 5.
2019
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3 | DGCR8, ERCC6, POLR2A
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| DGCR8 Mediates Repair of UV-Induced DNA Damage Independently of RNA Processing.
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| Calses PC, Dhillon KK, Tucker N, Chi Y, Huang JW, Kawasumi M, Nghiem P, Wang Y, Clurman BE, Jacquemont C, Gafken PR, Sugasawa K, Saijo M, Taniguchi T.
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| Cell Rep 19(1):162-174. doi: 10.1016/j.celrep.2017.03.021.
2017
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4 | POLR2A, PPP1R10
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| PNUTS/PP1 regulates RNAPII-mediated gene expression and is necessary for developmental growth.
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| Ciurciu A, Duncalf L, Jonchere V, Lansdale N, Vasieva O, Glenday P, Rudenko A, Vissi E, Cobbe N, Alphey L, Bennett D.
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| PLoS Genet 9(10):e1003885. doi: 10.1371/journal.pgen.1003885. Epub 2013 Oct 31.
2013
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5 | AGO1, POLR2A
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| Ago1 Interacts with RNA polymerase II and binds to the promoters of actively transcribed genes in human cancer cells.
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| Huang V, Zheng J, Qi Z, Wang J, Place RF, Yu J, Li H, Li LC.
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| PLoS Genet 9(9):e1003821. doi: 10.1371/journal.pgen.1003821. Epub 2013 Sep 26. 2013
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6 | POLR2A, RECQL5, TCEA1
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| Structural mimicry in transcription regulation of human RNA polymerase II by the DNA helicase RECQL5.
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| Kassube SA, Jinek M, Fang J, Tsutakawa S, Nogales E.
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| Nat Struct Mol Biol 20(7):892-9. doi: 10.1038/nsmb.2596. Epub 2013 Jun 9. 2013
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7 | KDM6A, POLR2A, SUPT6H
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| The histone chaperone Spt6 coordinates histone H3K27 demethylation and myogenesis.
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| Wang AH, Zare H, Mousavi K, Wang C, Moravec CE, Sirotkin HI, Ge K, Gutierrez-Cruz G, Sartorelli V.
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| EMBO J 32(8):1075-86. doi: 10.1038/emboj.2013.54.
2013
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8 | CCAR2, POLR2A, ZNF326
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| DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation.
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| Close P, East P, Dirac-Svejstrup AB, Hartmann H, Heron M, Maslen S, Chariot A, Söding J, Skehel M, Svejstrup JQ.
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| Nature 484(7394):386-9. doi: 10.1038/nature10925. 2012
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9 | BRD4, POLR2A
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| Bromodomain-containing protein 4 (BRD4) regulates RNA polymerase II serine 2 phosphorylation in human CD4+ T cells.
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| Zhang W, Prakash C, Sum C, Gong Y, Li Y, Kwok JJ, Thiessen N, Pettersson S, Jones SJ, Knapp S, Yang H, Chin KC.
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| J Biol Chem 287(51):43137-55. doi: 10.1074/jbc.M112.413047. Epub 2012 Oct 19.
2012
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10 | CCNK, CDK12, POLR2A
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| Interaction of cyclin-dependent kinase 12/CrkRS with cyclin K1 is required for the phosphorylation of the C-terminal domain of RNA polymerase II.
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| Cheng SW, Kuzyk MA, Moradian A, Ichu TA, Chang VC, Tien JF, Vollett SE, Griffith M, Marra MA, Morin GB.
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| Mol Cell Biol 32(22):4691-704. doi: 10.1128/MCB.06267-11. Epub 2012 Sep 17.
2012
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11 | AGO1, AGO2, POLR2A
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| Argonaute proteins couple chromatin silencing to alternative splicing.
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| Ameyar-Zazoua M, Rachez C, Souidi M, Robin P, Fritsch L, Young R, Morozova N, Fenouil R, Descostes N, Andrau JC, Mathieu J, Hamiche A, Ait-Si-Ali S, Muchardt C, Batsché E, Harel-Bellan A.
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| Nat Struct Mol Biol 19(10):998-1004. doi: 10.1038/nsmb.2373. Epub 2012 Sep 9.
2012
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12 | FOS, POLR2A, SNAPC1, SNAPC4
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| Requirement for SNAPC1 in transcriptional responsiveness to diverse extracellular signals.
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| Baillat D, Gardini A, Cesaroni M, Shiekhattar R.
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| Mol Cell Biol 32(22):4642-50. doi: 10.1128/MCB.00906-12. Epub 2012 Sep 10.
2012
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13 | POLR2A
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| RNAP II CTD phosphorylated on threonine-4 is required for histone mRNA 3' end processing.
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| Hsin JP, Sheth A, Manley JL.
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| Science 334(6056):683-6. doi: 10.1126/science.1206034.
2011
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14 | POLR2A
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| Mediator and post-recruitment regulation of RNA polymerase II.
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| Knuesel MT, Taatjes DJ.
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| Transcription 2(1):28-31. doi: 10.4161/trns.2.1.13950.
2011
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15 | PHF8, POLR2A
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| PHF8 targets histone methylation and RNA polymerase II to activate transcription.
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| Fortschegger K, de Graaf P, Outchkourov NS, van Schaik FM, Timmers HT, Shiekhattar R.
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| Mol Cell Biol 30(13):3286-98. doi: 10.1128/MCB.01520-09. Epub 2010 Apr 26.
2010
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16 | CASP8AP2, MYB, POLR2A
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| FLASH acts as a co-activator of the transcription factor c-Myb and localizes to active RNA polymerase II foci.
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| Alm-Kristiansen AH, Saether T, Matre V, Gilfillan S, Dahle O, Gabrielsen OS.
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| Oncogene 27(34):4644-56. Epub 2008 Apr 14. 2008
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17 | POLR2A
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| Histone N-terminal tails interfere with nucleosome traversal by RNA polymerase II.
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| Ujvári A, Hsieh FK, Luse SW, Studitsky VM, Luse DS.
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| J Biol Chem 283(47):32236-43. doi: 10.1074/jbc.M806636200. Epub 2008 Sep 23.
2008
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18 | POLR2A
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| CPD damage recognition by transcribing RNA polymerase II.
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| Brueckner F, Hennecke U, Carell T, Cramer P.
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| Science 315(5813):859-62. 2007
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19 | POLR2A
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| Serine-7 of the RNA polymerase II CTD is specifically required for snRNA gene expression.
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| Egloff S, O'Reilly D, Chapman RD, Taylor A, Tanzhaus K, Pitts L, Eick D, Murphy S.
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| Science 318(5857):1777-9.
2007
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20 | POLR2A
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| Molecular architecture and conformational flexibility of human RNA polymerase II.
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| Kostek SA, Grob P, De Carlo S, Lipscomb JS, Garczarek F, Nogales E.
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| Structure 14(11):1691-700.
2006
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21 | POLR2A
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| Actin is part of pre-initiation complexes and is necessary for transcription by RNA polymerase II.
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| Hofmann WA, Stojiljkovic L, Fuchsova B, Vargas GM, Mavrommatis E, Philimonenko V, Kysela K, Goodrich JA, Lessard JL, Hope TJ, Hozak P, de Lanerolle P.
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| Nat Cell Biol 6(11):1094-101. Epub 2004 Oct 24.
2004
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22 | POLR2A
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| Chromosomal assignment of gene encoding the largest subunit of RNA polymerase II in the mouse.
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| Pravtcheva D, et al.
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| Somat Cell Mol Genet 12 : 523-528. 1986
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23 | POLR2A
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| The gene encoding the large subunit of human RNA polymerase II is located on the short arm of chromosome 17.
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| Cannizzaro LA, et al.
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| Am J Hum Genet 38 : 812-818. 1986
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