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Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V, Walsh PR, Smith-Jackson K, Hallam TM, Marchbank KJ, Wilson V, Bigirumurame T, Dutt T, Montgomery EK, Malina M, Wong EKS, Johnson S, Sheerin NS, Kavanagh D. Brocklebank V, et al. Blood. 2023 Oct 19;142(16):1371-1386. doi: 10.1182/blood.2022018833. Blood. 2023. PMID: 37369098 Free PMC article.
We demonstrated that biallelic pathogenic mutations in RNA-processing genes, including EXOSC3, encoding an essential part of the RNA exosome, cause eculizumab nonresponsive aHUS. ...
We demonstrated that biallelic pathogenic mutations in RNA-processing genes, including EXOSC3, encoding an essential part of the RNA …
The RNA Exosome and Human Disease.
Fasken MB, Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH. Fasken MB, et al. Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1. Methods Mol Biol. 2020. PMID: 31768969 Review.
In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are related autosomal recessive, neurodegenerative diseases. ...
In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c …
The RNA exosome and RNA exosome-linked disease.
Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB. Morton DJ, et al. RNA. 2018 Feb;24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1. RNA. 2018. PMID: 29093021 Free PMC article. Review.
Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, w …
Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutat …
RNA exosome drives early B cell development via noncoding RNA processing mechanisms.
Laffleur B, Batista CR, Zhang W, Lim J, Yang B, Rossille D, Wu L, Estrella J, Rothschild G, Pefanis E, Basu U. Laffleur B, et al. Sci Immunol. 2022 Jun 3;7(72):eabn2738. doi: 10.1126/sciimmunol.abn2738. Epub 2022 Jun 3. Sci Immunol. 2022. PMID: 35658015 Free PMC article.
To understand the role of RNA exosome in early B cell development in greater detail, we generated mouse models harboring a B cell-specific cre allele (Mb1(cre)), coupled to conditional inversion-deletion alleles of one RNA exosome core component (Exosc3) or RNase catalytic …
To understand the role of RNA exosome in early B cell development in greater detail, we generated mouse models harboring a B cell-specific c …
Potentially functional variants of INPP5D and EXOSC3 in immunity B cell-related genes are associated with non-small cell lung cancer survival.
Lu G, Liu H, Wang H, Tang X, Luo S, Du M, Christiani DC, Wei Q. Lu G, et al. Front Immunol. 2024 Aug 8;15:1440454. doi: 10.3389/fimmu.2024.1440454. eCollection 2024. Front Immunol. 2024. PMID: 39176091 Free PMC article.
Finally, two independent SNPs, inositol polyphosphate-5-phosphatase D (INPP5D) rs13385922 C>T and exosome component 3 (EXOSC3) rs3208406 A>G, remained significantly associated withNSCLC OS with a combined hazards ratio (HR) of 1.14 (95% confidence interval = 1.06-1.2 …
Finally, two independent SNPs, inositol polyphosphate-5-phosphatase D (INPP5D) rs13385922 C>T and exosome component 3 (EXOSC3) rs3 …
A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.
Morton DJ, Jalloh B, Kim L, Kremsky I, Nair RJ, Nguyen KB, Rounds JC, Sterrett MC, Brown B, Le T, Karkare MC, McGaughey KD, Sheng S, Leung SW, Fasken MB, Moberg KH, Corbett AH. Morton DJ, et al. PLoS Genet. 2020 Jul 9;16(7):e1008901. doi: 10.1371/journal.pgen.1008901. eCollection 2020 Jul. PLoS Genet. 2020. PMID: 32645003 Free PMC article.
The goal of this study is to provide insight into how mutations in EXOSC3 impact the function of the RNA exosome. To assess the tissue-specific roles and requirements for the Drosophila ortholog of EXOSC3 termed Rrp40, we utilized tissue-specific RNAi drivers …
The goal of this study is to provide insight into how mutations in EXOSC3 impact the function of the RNA exosome. To assess the tissu …
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A. Somashekar PH, et al. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28. Clin Genet. 2021. PMID: 33463720 Free PMC article. Review.
Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing loss, retinitis pigmentosa and distinctive facies. ...
Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, typ …
Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.
Gillespie A, Gabunilas J, Jen JC, Chanfreau GF. Gillespie A, et al. RNA. 2017 Apr;23(4):466-472. doi: 10.1261/rna.060004.116. Epub 2017 Jan 4. RNA. 2017. PMID: 28053271 Free PMC article.
Recently, mutations have been mapped to the gene encoding one of the subunits of the exosome, EXOSC3 (yeast Rrp40p), which results in pontocerebellar hypoplasia with motor neuron degeneration in human patients. ...To investigate the molecular consequences of mutatio …
Recently, mutations have been mapped to the gene encoding one of the subunits of the exosome, EXOSC3 (yeast Rrp40p), which res …
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L, Jahanbakhsh S, Nelson ADL, Ray D, Scott DD, Hennefarth MR, Moutal A, Perez-Miller S, Ambrose AJ, Al-Shamari A, Coursodon P, Meechoovet B, Reiman R, Lyons E, Beilstein M, Chapman E, Morris QD, Van Keuren-Jensen K, Hughes TR, Khanna R, Koehler C, Jen J, Gokhale V, Khanna M. François-Moutal L, et al. ACS Chem Biol. 2018 Oct 19;13(10):3000-3010. doi: 10.1021/acschembio.8b00745. Epub 2018 Sep 6. ACS Chem Biol. 2018. PMID: 30141626 Free PMC article.
Mutations of EXOSC3 have been linked to the rare neurological disorder known as Pontocerebellar Hypoplasia type 1B (PCH1B). ...Using RNAcompete, we identified a G-rich RNA motif binding to EXOSC3. Surface plasmon resonance (SPR) and microscale thermophoresis (MST) i …
Mutations of EXOSC3 have been linked to the rare neurological disorder known as Pontocerebellar Hypoplasia type 1B (PCH1B). ...Using …
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948
The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively. VLDLR, TOE1 and RARS2 were mutated in single patients. We were able to confirm only few previously reported associations, including jitter …
The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively …
38 results