| 1 | POLR1C, POLR3A, POLR3B, POLR3K
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| POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
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| Coulombe B, Derksen A, La Piana R, Brais B, Gauthier MS, Bernard G.
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| Fac Rev. Feb 5;10:12. doi: 10.12703/r/10-12. 2021
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| 2 | POLR1C, TCSPC
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| Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.
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| Lau MC, Kwong EM, Lai KP, Li JW, Ho JC, Chan TF, Wong CK, Jiang YJ, Tse WK.
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| Biochim Biophys Acta 1862(6):1147-58. doi: 10.1016/j.bbadis.2016.03.005. Epub 2016 Mar 10.
2016
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| 3 | POLR1C, POLR1D, TCSPC, TCSPD
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| The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
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| Noack Watt KE, Achilleos A, Neben CL, Merrill AE, Trainor PA.
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| PLoS Genet 12(7):e1006187. doi: 10.1371/journal.pgen.1006187. eCollection 2016 Jul.
2016
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| 4 | HLD11, POLR1C
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| Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
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| Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G.
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| Nat Commun 6:7623. doi: 10.1038/ncomms8623.
2015
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| 5 | POLR1C, POLR1D, TCOF1
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| Treacher Collins Syndrome: the genetics of a craniofacial disease.
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| Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y.
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| Int J Pediatr Otorhinolaryngol 78(6):893-8. doi: 10.1016/j.ijporl.2014.03.006. Epub 2014 Mar 13. Review.
2014
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| 6 | POLR1C, POLR1D, TCSPC, TCSPD
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| Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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| Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D.
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| Nat Genet 43(1):20-2. Epub 2010 Dec 5.
2011
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| 7 | CRCP, POLR1C, POLR1D, POLR2F, POLR3B, POLR3E, POLR3H
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| Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
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| Hu P, Wu S, Sun Y, Yuan CC, Kobayashi R, Myers MP, Hernandez N.
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| Mol Cell Biol 22(22):8044-55. 2002
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| 8 | POLR1C
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| Cloning and characterization of the human RNA polymerase I subunit hRPA40.
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| Dammann R, Pfeifer GP.
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| Biochim Biophys Acta 1396(2):153-7. 1998
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| 9 | ATP5J2, ATP5J2P3, C14orf2, EIF4E2, H2AFY, ITM2C, NDUFB4, NDUFC1, POLR1C, TBCA, TECR, TMEM59, VPS4A, VPS4B, ZNF254
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| Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.
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| Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z.
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| Proc Natl Acad Sci U S A 95(14):8175-80. 1998
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