| A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers. | A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, Domi R, Gaudio A, Mammi A, Patrone S, Barbera A, Origone P, Ponti C, Sanguineri F, Zara F, Cataldi M, Salpietro V, Venturi CB, Massucco S, Schenone A, Manganelli F, Mandich P, Bellone E, Gotta F. | 01/3/2024 |
| Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister. | Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
Bai H, Li D, Zheng Y, Jiang X., Free PMC Article | 10/22/2022 |
| Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. | Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kitao R, Morimoto T, Taniguchi T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H., Free PMC Article | 05/14/2022 |
| Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery. | Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.
Saghi M, InanlooRahatloo K, Alavi A, Kahrizi K, Najmabadi H., Free PMC Article | 04/30/2022 |
| Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G., Free PMC Article | 09/11/2021 |
| 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. | 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
Verberne EA, Dalen Meurs L, Wolf NI, van Haelst MM., Free PMC Article | 05/1/2021 |
| De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. | De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G., Free PMC Article | 02/6/2021 |
| These results suggest that the deletion of INMAP block the formation of spindle, leading to arrest of cell cycle and DNA damage, finally blocking cell proliferation and inducing apoptosis. | Deletion of INMAP postpones mitotic exit and induces apoptosis by disabling the formation of mitotic spindle.
Wang Y, Gu Q, Yan K, Zhu Y, Tan T, Zheng Y, Wang X, Zou T, Liang Q. | 06/6/2020 |
| Three novel mutations of POLR3B c.727A>G (p.Met243Val) and c.2669G>A (p.Arg890His) (P1, P2), and c.1495G>A (p.Met499Val) (P3) were found | POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Kulhánek J, Brožová K, Hansíková H, Vondráčková A, Stránecký V, Šenkyřík J, Kmoch S, Zeman J, Honzík T, Tesařová M. | 11/16/2019 |
| Novel compound heterozygous variations in POLR3B were identified in a patient with cerebellar hypoplasia with endosteal sclerosis. | Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, Smol T, Caumes R, de Roux N, Manouvrier-Hanu S., Free PMC Article | 12/16/2017 |
| The spectrum of phenotypes resulting from POLR3B mutations is wider than previously believed. | Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB., Free PMC Article | 11/4/2017 |
| Findings suggest that AP-1 factors are regulators of RNA polymerase III (Pol III)-driven 5S rRNA and U6 snRNA expression with a potential role in cell proliferation. | Stimulation of Pol III-dependent 5S rRNA and U6 snRNA gene expression by AP-1 transcription factors.
Ahuja R, Kumar V. | 10/7/2017 |
| Multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype: diffuse hypomyelination is not an obligatory feature of POLR3-related disorders; two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI presentation of POLR3-related disorders | Diffuse hypomyelination is not obligate for POLR3-related disorders.
La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G., Free PMC Article | 04/29/2017 |
| first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A or POLR3B should be investigated in patients with a compatible phenotype | Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G., Free PMC Article | 04/30/2016 |
| Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination. | POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. | 02/20/2016 |
| INMAP as a model regulator of CENP-B | A regulatory effect of INMAP on centromere proteins: antisense INMAP induces CENP-B variation and centromeric halo.
Tan T, Chen Z, Lei Y, Zhu Y, Liang Q., Free PMC Article | 10/16/2015 |
| These results suggest that INMAP might function through p53/p21 pathways. | INMAP overexpression inhibits cell proliferation, induces genomic instability and functions through p53/p21 pathways.
Zhu Y, Lei Y, Du B, Zheng Y, Lu X, Tan T, Kang J, Sun L, Liang Q., Free PMC Article | 10/10/2015 |
| Most patients with 4H leukodystrophy carried the common c.1568T>A POLR3B mutation on one allele. | Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G, 4H Research Group., Free PMC Article | 01/31/2015 |
| MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations | Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
Takanashi J, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich AJ. | 11/8/2014 |
| Investigated POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A or POLR3B were uncovered in all 14 patients. | 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. | 11/30/2013 |
| study reports INMAP is a truncated version of POLR3B, and is up-regulated in several human cancer cell lines; results suggest that INMAP may function through the p53 and AP-1 pathways, providing a possible link of its activity with tumourigenesis | INMAP, a novel truncated version of POLR3B, represses AP-1 and p53 transcriptional activity.
Yunlei Z, Zhe C, Yan L, Pengcheng W, Yanbo Z, Le S, Qianjin L. | 06/29/2013 |
| Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy | 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., Free PMC Article | 02/25/2012 |
| Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy | 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., Free PMC Article | 02/25/2012 |
| Results suggest that INMAP is a novel protein that plays essential role in spindle formation and cell-cycle progression. | Identification and characterization of INMAP, a novel interphase nucleus and mitotic apparatus protein that is involved in spindle formation and cell cycle progression.
Shen E, Lei Y, Liu Q, Zheng Y, Song C, Marc J, Wang Y, Sun L, Liang Q. | 10/22/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |