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Select item 88142441.

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis

Nic Robertson, Vadim Shchepachev, David Wright, Tomasz W. Turowski, Christos Spanos, Aleksandra Helwak, Rose Zamoyska, David Tollervey

Nat Commun. 2022; 13: 649. Published online 2022 Feb 3. doi: 10.1038/s41467-022-28295-8

PMCID:: PMC8814244

Abstract Article PDF–2.5M

Select item 80418252.

The long noncoding RNA of RMRP is downregulated by PERK, which induces apoptosis in hepatocellular carcinoma cells

Atsushi Yukimoto, Takao Watanabe, Kotaro Sunago, Yoshiko Nakamura, Takaaki Tanaka, Yohei Koizumi, Osamu Yoshida, Yoshio Tokumoto, Masashi Hirooka, Masanori Abe, Yoichi Hiasa

Sci Rep. 2021; 11: 7926. Published online 2021 Apr 12. doi: 10.1038/s41598-021-86592-6

PMCID:: PMC8041825

Abstract Article PDF–1.6M

Select item 69299203.

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations

Svetlana Vakkilainen, Alice Costantini, Mervi Taskinen, Ulla Wartiovaara-Kautto, Outi Mäkitie

J Med Genet. 2020 Jan; 57(1): 18–22. Published online 2019 Aug 14. doi: 10.1136/jmedgenet-2019-106131

PMCID:: PMC6929920

Abstract Article PDF–428K

Select item 67602114.

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2

Svetlana Vakkilainen, Tiina Skoog, Elisabet Einarsdottir, Anna Middleton, Minna Pekkinen, Tiina Öhman, Shintaro Katayama, Kaarel Krjutškov, Panu E. Kovanen, Markku Varjosalo, Arne Lindqvist, Juha Kere, Outi Mäkitie

Sci Rep. 2019; 9: 13758. Published online 2019 Sep 24. doi: 10.1038/s41598-019-50334-6

PMCID:: PMC6760211

Abstract Article PDF–1.7M

Select item 65915695.

Suppression of lncRNA RMRP ameliorates oxygen-glucose deprivation/re-oxygenation-induced neural cells injury by inhibiting autophagy and PI3K/Akt/mTOR-mediated apoptosis

Zheyi Zhou, Hong Xu, Baozhu Liu, Linglu Dun, Changjun Lu, Yefeng Cai, Honghao Wang

Biosci Rep. 2019 Jun 28; 39(6): BSR20181367. Prepublished online 2019 Mar 29. Published online 2019 Jun 25. doi: 10.1042/BSR20181367

PMCID:: PMC6591569

Abstract Article PDF–1.7M

Select item 52871136.

Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing

Katherine C. Goldfarb, Thomas R. Cech

Genes Dev. 2017 Jan 1; 31(1): 59–71. doi: 10.1101/gad.286963.116

PMCID:: PMC5287113

Abstract Article PDF–555K

Select item 51223517.

LncRNA-RMRP promotes carcinogenesis by acting as a miR-206 sponge and is used as a novel biomarker for gastric cancer

Yongfu Shao, Meng Ye, Qier Li, Weiliang Sun, Guoliang Ye, Xinjun Zhang, Yunben Yang, Bingxiu Xiao, Junming Guo

Oncotarget. 2016 Jun 21; 7(25): 37812–37824. Published online 2016 May 12. doi: 10.18632/oncotarget.9336

PMCID:: PMC5122351

Abstract Article PDF–6.9M

Select item 47414808.

Wnt activated β-catenin and YAP proteins enhance the expression of non-coding RNA component of RNase MRP in colon cancer cells

Jinjoo Park, Sunjoo Jeong

Oncotarget. 2015 Oct 27; 6(33): 34658–34668. Published online 2015 Sep 22. doi: 10.18632/oncotarget.5778

PMCID:: PMC4741480

Abstract Article PDF–3.3M

Select item 42872389.

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

Miguel A. de la Fuente, Mike Recher, Nicholas L. Rider, Kevin A. Strauss, D. Holmes Morton, Margaret Adair, Francisco A. Bonilla, Hans D. Ochs, Erwin W. Gelfand, Itai M. Pessach, Jolan E. Walter, Alejandra King, Silvia Giliani, Sung-Yun Pai, Luigi D. Notarangelo

J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Jan 8.

Published in final edited form as: J Allergy Clin Immunol. 2011 Jul; 128(1): 139–146. Published online 2011 May 13. doi: 10.1016/j.jaci.2011.03.042

PMCID:: PMC4287238

Abstract Article PDF–1.7M

Select item 386935510.

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage–hair hypoplasia

Leslie E. Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D. Notarangelo, Silvia Giliani, Eric Bouhassira, Paul Frenette, Jayanta Roy-Chowdhury, Charles E. Rogler

Hum Mol Genet. 2014 Jan 15; 23(2): 368–382. Published online 2013 Sep 5. doi: 10.1093/hmg/ddt427

PMCID:: PMC3869355

Abstract Article PDF–1.0M

Select item 367678411.

Off-Target Effect of Endogenous siRNA Derived from RMRP in Human Cells

Yoshiko Maida, Satoru Kyo, Timo Lassmann, Yoshihide Hayashizaki, Kenkichi Masutomi

Int J Mol Sci. 2013 May; 14(5): 9305–9318. Published online 2013 Apr 29. doi: 10.3390/ijms14059305

PMCID:: PMC3676784

Abstract Article PDF–433K

Select item 257674312.

Clinical and Genetic Distinction of Schimke Immuno-Osseous Dysplasia and Cartilage-Hair Hypoplasia

Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F. Boerkoel, Ilkka Kaitila

Am J Med Genet A. Author manuscript; available in PMC 2008 Oct 31.

Published in final edited form as: Am J Med Genet A. 2008 Aug 1; 146A(15): 2013–2017. doi: 10.1002/ajmg.a.32406

PMCID:: PMC2576743

Article PDF–46K

Select item 195084113.

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

Christian T. Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch

Am J Hum Genet. 2007 Sep; 81(3): 519–529. Published online 2007 Aug 6. doi: 10.1086/521034

PMCID:: PMC1950841

Abstract Article PDF–682K

Select item 173529014.

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

T Kuijpers, M Ridanpaa, M Peters, I de Boer, J Vossen, S Pals, I Kaitila, R Hennekam

J Med Genet. 2003 Oct; 40(10): 761–766. doi: 10.1136/jmg.40.10.761

PMCID:: PMC1735290

Summary PDF–436K

Select item 127138815.

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Christian T. Thiel, Denise Horn, Bernhard Zabel, Arif B. Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller, Christiane Zweier, Mark E. Schmitt, André Reis, Anita Rauch

Am J Hum Genet. 2005 Nov; 77(5): 795–806. Published online 2005 Sep 29. doi: 10.1086/497708

PMCID:: PMC1271388

Abstract Article PDF–2.9M

Select item 126218916.

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond

PLoS Genet. 2005 Oct; 1(4): e47. Published online 2005 Oct 21. doi: 10.1371/journal.pgen.0010047