418 related articles for article (PubMed ID: 34395528)
1. RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E; Choquet K; Sagliocco F; Brais B; Bernard G; Teichmann M
Front Mol Biosci; 2021; 8():696438. PubMed ID: 34395528
[TBL] [Abstract][Full Text] [Related]
2. POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Coulombe B; Derksen A; La Piana R; Brais B; Gauthier MS; Bernard G
Fac Rev; 2021; 10():12. PubMed ID: 33659930
[TBL] [Abstract][Full Text] [Related]
3. The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.
Choquet K; Pinard M; Yang S; Moir RD; Poitras C; Dicaire MJ; Sgarioto N; Larivière R; Kleinman CL; Willis IM; Gauthier MS; Coulombe B; Brais B
Mol Brain; 2019 Jun; 12(1):59. PubMed ID: 31221184
[TBL] [Abstract][Full Text] [Related]
4. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA; Vlaar JM; Middelkamp S; Nievelstein RAJ; Nikkels PGJ; Ross J; Créton M; Bos JW; Voskuil-Kerkhof ESM; Cuppen E; Knoers N; van Gassen KLI
Eur J Hum Genet; 2020 Jan; 28(1):31-39. PubMed ID: 31089205
[TBL] [Abstract][Full Text] [Related]
5. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in
Mirchi A; Guay SP; Tran LT; Wolf NI; Vanderver A; Brais B; Sylvain M; Pohl D; Rossignol E; Saito M; Moutton S; González-Gutiérrez-Solana L; Thiffault I; Kruer MC; Moron DG; Kauffman M; Goizet C; Sztriha L; Glamuzina E; Melançon SB; Naidu S; Retrouvey JM; Lacombe S; Bernardino-Cuesta B; De Bie I; Bernard G
J Med Genet; 2023 Oct; 60(10):1026-1034. PubMed ID: 37197783
[TBL] [Abstract][Full Text] [Related]
6. Leukodystrophy-associated
Choquet K; Forget D; Meloche E; Dicaire MJ; Bernard G; Vanderver A; Schiffmann R; Fabian MR; Teichmann M; Coulombe B; Brais B; Kleinman CL
J Biol Chem; 2019 May; 294(18):7445-7459. PubMed ID: 30898877
[TBL] [Abstract][Full Text] [Related]
7. Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.
Moir RD; Lavados C; Lee J; Willis IM
Gene; 2021 Feb; 768():145259. PubMed ID: 33148458
[TBL] [Abstract][Full Text] [Related]
8. Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Michell-Robinson MA; Watt KEN; Grouza V; Macintosh J; Pinard M; Tuznik M; Chen X; Darbelli L; Wu CL; Perrier S; Chitsaz D; Uccelli NA; Liu H; Cox TC; Müller CW; Kennedy TE; Coulombe B; Rudko DA; Trainor PA; Bernard G
Brain; 2023 Dec; 146(12):5070-5085. PubMed ID: 37635302
[TBL] [Abstract][Full Text] [Related]
9. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
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
Am J Hum Genet; 2011 Nov; 89(5):644-51. PubMed ID: 22036171
[TBL] [Abstract][Full Text] [Related]
10. RNA Polymerases I and III in development and disease.
Watt KE; Macintosh J; Bernard G; Trainor PA
Semin Cell Dev Biol; 2023 Feb; 136():49-63. PubMed ID: 35422389
[TBL] [Abstract][Full Text] [Related]
11. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Tétreault M; Choquet K; Orcesi S; Tonduti D; Balottin U; Teichmann M; Fribourg S; Schiffmann R; Brais B; Vanderver A; Bernard G
Am J Hum Genet; 2011 Nov; 89(5):652-5. PubMed ID: 22036172
[TBL] [Abstract][Full Text] [Related]
12. Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Choquet K; Yang S; Moir RD; Forget D; Larivière R; Bouchard A; Poitras C; Sgarioto N; Dicaire MJ; Noohi F; Kennedy TE; Rochford J; Bernard G; Teichmann M; Coulombe B; Willis IM; Kleinman CL; Brais B
Mol Brain; 2017 Apr; 10(1):13. PubMed ID: 28407788
[TBL] [Abstract][Full Text] [Related]
13. Biallelic pathogenic variants in
Macintosh J; Perrier S; Pinard M; Tran LT; Guerrero K; Prasad C; Prasad AN; Pastinen T; Thiffault I; Coulombe B; Bernard G
Front Neurol; 2023; 14():1254140. PubMed ID: 37915380
[TBL] [Abstract][Full Text] [Related]
14. Mutation in
Dorboz I; Dumay-Odelot H; Boussaid K; Bouyacoub Y; Barreau P; Samaan S; Jmel H; Eymard-Pierre E; Cances C; Bar C; Poulat AL; Rousselle C; Renaldo F; Elmaleh-Bergès M; Teichmann M; Boespflug-Tanguy O
Neurol Genet; 2018 Dec; 4(6):e289. PubMed ID: 30584594
[TBL] [Abstract][Full Text] [Related]
15. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
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; Coulombe B; Bernard G
Nat Commun; 2015 Jul; 6():7623. PubMed ID: 26151409
[TBL] [Abstract][Full Text] [Related]
16. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G; Hög F; Dentici ML; Tan PL; Sowada N; Medeira A; Gueneau L; Thiele H; Kousi M; Lepri F; Wenzeck L; Blumenthal I; Radicioni A; Schwarzenberg TL; Mandriani B; Fischetto R; Morris-Rosendahl DJ; Altmüller J; Reymond A; Nürnberg P; Merla G; Dallapiccola B; Katsanis N; Cramer P; Kubisch C
Genome Res; 2015 Feb; 25(2):155-66. PubMed ID: 25561519
[TBL] [Abstract][Full Text] [Related]
17. Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Ruan DD; Ruan XL; Wang RL; Lin XF; Zhang YP; Lin B; Li SJ; Wu M; Chen Q; Zhang JH; Cheng Q; Zhang YW; Lin F; Luo JW; Zheng Z; Li YF
Sci Rep; 2024 Apr; 14(1):7638. PubMed ID: 38561452
[TBL] [Abstract][Full Text] [Related]
18. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
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
Am J Hum Genet; 2011 Sep; 89(3):415-23. PubMed ID: 21855841
[TBL] [Abstract][Full Text] [Related]
19. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
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
J Med Genet; 2013 Mar; 50(3):194-7. PubMed ID: 23355746
[TBL] [Abstract][Full Text] [Related]
20. A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Ramanathan A; Weintraub M; Orlovetskie N; Serruya R; Mani D; Marcu O; Stepensky P; Weisblum Y; Djian E; Shaag A; Revel-Vilk S; Fried I; Kotler M; Rouvinski A; Wolf D; Elpeleg O; Jarrous N
Proc Natl Acad Sci U S A; 2020 Sep; 117(36):22113-22121. PubMed ID: 32843346
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
