| 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 | HCAHC, HLD7, POLR3A, POLR3B
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| Dystonia in RNA Polymerase III-Related Leukodystrophy
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| Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G
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| Mov Disord Clin Pract. Jan 9;6(2):155-159. doi: 10.1002/mdc3.12715. 2019
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| 3 | NPROS, POLR3A
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| Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
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| Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.
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| Am J Hum Genet 103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.
2018
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| 4 | NPROS, POLR3A
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| Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
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| Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.
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| Hum Genet 137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.
2018
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| 5 | NPROS, POLR3A
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| Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
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| Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.
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| J Med Genet 55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.
2018
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| 6 | HLD7, POLR3A
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| A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
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| Tewari VV, Mehta R, Sreedhar CM, Tewari K, Mohammad A, Gupta N, Gulati S, Kabra M.
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| BMC Pediatr 18(1):126. doi: 10.1186/s12887-018-1108-9.
2018
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| 7 | HCAHC, HLD7, POLR3A, POLR3B
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| Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
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| Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, Smol T, Caumes R, de Roux N, Manouvrier-Hanu S.
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| Eur J Hum Genet 25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7.
2017
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| 8 | HLD7, POLR3A
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| Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
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| Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
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| Brain 140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2017 Dec 9;:.
2017
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| 9 | POLR3A, POLR3C
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| Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.
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| Ogunjimi B, Zhang SY, Sørensen KB, Skipper KA, Carter-Timofte M, Kerner G, Luecke S, Prabakaran T, Cai Y, Meester J, Bartholomeus E, Bolar NA, Vandeweyer G, Claes C, Sillis Y, Lorenzo L, Fiorenza RA, Boucherit S, Dielman C, Heynderickx S, Elias G, Kurotova A, Auwera AV, Verstraete L, Lagae L, Verhelst H, Jansen A, Ramet J, Suls A, Smits E, Ceulemans B, Van Laer L, Plat Wilson G, Kreth J, Picard C, Von Bernuth H, Fluss J, Chabrier S, Abel L, Mortier G, Fribourg S, Mikkelsen JG, Casanova JL, Paludan SR, Mogensen TH.
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| J Clin Invest. Sep 1;127(9):3543-3556. doi: 10.1172/JCI92280. Epub 2017 Aug 7. 2017
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| 10 | NPROS, POLR3A
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| Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
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| Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV.
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| Am J Med Genet A 170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9.
2016
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| 11 | POLR3A
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| Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
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| Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, Liu G, Morar B, Rackham O, Bynevelt M, Grudkova M, Kamenov Z, Svechtarov V, Tournev I, Kalaydjieva L, Filipovska A.
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| Hum Mol Genet 25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9.
2016
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| 12 | POLR3A, POLR3B
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| POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
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| Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI.
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| Neuropediatrics 46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8.
2015
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| 13 | HCAHC, HLD7, POLR3A, POLR3B
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| Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
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| Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G.
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| J Med Genet Med Genet. 2013 M 2013
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| 14 | DNMT1, DNMT3, POLR3A
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| Regulation of human RNA polymerase III transcription by DNMT1 and DNMT3a DNA methyltransferases.
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| Selvakumar T, Gjidoda A, Hovde SL, Henry RW.
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| J Biol Chem. 287(10):7039-50. 2012
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| 15 | HLD7, POLR3A
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| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
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| Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B.
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| Am J Hum Genet 89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014.
2011
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| 16 | HCAHC, HLD7, POLR3A, POLR3B
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| Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy.
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| Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
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| Am J Hum Genet 89(5):644-51. Epub 2011 Oct 27. 2011
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| 17 | HLD7, POLR3A
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| Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.
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| Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B.
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| Neurogenetics 11(4):457-64. Epub 2010 Jul 17.
2010
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| 18 | POLR3A
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| Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2.
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| Mertens C, Hofmann I, Wang Z, Teichmann M, Sepehri Chong S, Schnölzer M, Franke WW.
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| Proc Natl Acad Sci U S A 98(14):7795-800. Epub 2001 Jun 19.
2001
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| 19 | POLR3A
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| Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2.
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| Mertens C, Hofmann I, Wang Z, Teichmann M, Sepehri Chong S, Schnölzer M, Franke WW.
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| Proc Natl Acad Sci U S A. 98(14):7795-800. 2001
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| 20 | ARVD7, CMD1C, POLR3A, PPIF
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| Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes.
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| Bowles KR, Abraham SE, Brugada R, Zintz C, Comeaux J, Sorajja D, Tsubata S, Li H, Brandon L, Gibbs RA, Scherer SE, Bowles NE, Towbin JA.
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| Genomics 67(2):109-27. 2000
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| 21 | POLR3A
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| The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III.
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| Sepehri S, Hernandez N.
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| Genome Res 7(10):1006-19. 1997
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