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WRN helicase accelerates the transcription of ribosomal RNA as a component of an RNA polymerase I-associated complex.
Shiratori M, Suzuki T, Itoh C, Goto M, Furuichi Y, Matsumoto T. Shiratori M, et al. Oncogene. 2002 Apr 11;21(16):2447-54. doi: 10.1038/sj.onc.1205334. Oncogene. 2002. PMID: 11971179
A possible function of WRN on rRNA transcription through interaction with RPI is supported by the results described here showing that WRN is co-immunoprecipitated with an RPI subunit, RPA40. Here we show that WS fibroblasts are characterized by a decreased level of rRNA tr …
A possible function of WRN on rRNA transcription through interaction with RPI is supported by the results described here showing that WRN is …
Design and testing of ribozymes for cancer gene therapy.
Norris JS, Hoel B, Voeks D, Maggouta F, Dahm M, Pan W, Clawson G. Norris JS, et al. Adv Exp Med Biol. 2000;465:293-301. doi: 10.1007/0-306-46817-4_25. Adv Exp Med Biol. 2000. PMID: 10810634 Review.
This chapter describes procedural aspects for development of ribozymes in general, and specifically, that cleave mRNA to an essential cellular gene, the AC40 subunit of RNA pol I. Ribozyme design includes functional selection of binding sites followed by computer modeling. …
This chapter describes procedural aspects for development of ribozymes in general, and specifically, that cleave mRNA to an essential cellul …
The transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects.
Krausel V, Pund L, Nüsse H, Bachir H, Ricker A, Klingauf J, Weide T, Pavenstädt H, Krahn MP, Braun DA. Krausel V, et al. Kidney Int. 2023 May;103(5):872-885. doi: 10.1016/j.kint.2022.11.024. Epub 2022 Dec 29. Kidney Int. 2023. PMID: 36587794
We found that ATF4, an ER stress-mediating transcription factor, or its fly orthologue Crc, were upregulated in both fly nephrocytes and human podocytes. Knockdown of Tcs3, a fly orthologue of OSGEP, caused slit diaphragm defects, recapitulating the human kidney phenotype. …
We found that ATF4, an ER stress-mediating transcription factor, or its fly orthologue Crc, were upregulated in both fly nephrocytes and hum …
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, S… See abstract for full author list ➔ Pelletier F, et al. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth …
CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and h …
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. Ghoumid J, et al. Eur J Hum Genet. 2017 Aug;25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7. Eur J Hum Genet. 2017. PMID: 28589944 Free PMC article.
CHES syndrome is reminiscent of 4H-leukodystrophy, a recessive-inherited affection due to variations in genes encoding subunits of the RNA polymerase III (POLR3A-POLR3B-POLR1C). POLR3B variants have been identified in one CHES patient. Here we report on a novel CHES patien …
CHES syndrome is reminiscent of 4H-leukodystrophy, a recessive-inherited affection due to variations in genes encoding subunits of the RNA p …
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
Verberne EA, Dalen Meurs L, Wolf NI, van Haelst MM. Verberne EA, et al. Am J Med Genet A. 2020 Jul;182(7):1776-1779. doi: 10.1002/ajmg.a.61600. Epub 2020 Apr 22. Am J Med Genet A. 2020. PMID: 32319736 Free PMC article.
It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have been described with homozygosity for the common c.1568T>A (p.Val523Glu) POLR3B mutation, both of them showing a remarkably mild clinical course. ...
It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have been described with homozygosity for …
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.
Lau MC, Kwong EM, Lai KP, Li JW, Ho JC, Chan TF, Wong CK, Jiang YJ, Tse WK. Lau MC, et al. Biochim Biophys Acta. 2016 Jun;1862(6):1147-58. doi: 10.1016/j.bbadis.2016.03.005. Epub 2016 Mar 10. Biochim Biophys Acta. 2016. PMID: 26972049 Free article.
In this study, we examine the role of POLR1C in TCS using zebrafish as a model system. Our data confirmed that polr1c is highly expressed in the facial region, and dysfunction of this gene by knockdown or knock-out resulted in mis-expression of neural crest cells du …
In this study, we examine the role of POLR1C in TCS using zebrafish as a model system. Our data confirmed that polr1c is highl …
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF. Ulhaq ZS, et al. Clin Genet. 2023 Feb;103(2):146-155. doi: 10.1111/cge.14243. Epub 2022 Oct 17. Clin Genet. 2023. PMID: 36203321 Review.
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative variants are very limited. ...Th …
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR …
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.
Through WES, in 11 of 20 trios, 15 causative variants were detected in seven genes TUBB4A, POLR1C, POLR3A, SOX10, TMEM106B, DEGS1, and TMEM63A. The last three genes have just been discovered. ...Moreover, novel mutations identified in TUBB4A, POLR3A, and POLR1C expa …
Through WES, in 11 of 20 trios, 15 causative variants were detected in seven genes TUBB4A, POLR1C, POLR3A, SOX10, TMEM106B, DEGS1, an …
53 results