M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas, O Mäkitie, I Kaitila, A de la Chapelle. Cell 2001
Times Cited: 297
Times Cited: 297
Times Cited
Times Co-cited
Similarity
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
V A MCKUSICK, R ELDRIDGE, J A HOSTETLER, U RUANGWIT, J A EGELAND. Bull Johns Hopkins Hosp 1965
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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
Pia Hermanns, Alison A Bertuch, Terry K Bertin, Brian Dawson, Mark E Schmitt, Chad Shaw, Bernhard Zabel, Brendan Lee. Hum Mol Genet 2005
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An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.
Yoshiko Maida, Mami Yasukawa, Miho Furuuchi, Timo Lassmann, Richard Possemato, Naoko Okamoto, Vivi Kasim, Yoshihide Hayashizaki, William C Hahn, Kenkichi Masutomi. Nature 2009
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Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
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Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
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Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.
O Mäkitie, I Kaitila. Eur J Pediatr 1993
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Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
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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
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Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing.
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation.
Tina Gill, Ti Cai, Jason Aulds, Sara Wierzbicki, Mark E Schmitt. Mol Cell Biol 2004
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Ribosomopathies: human disorders of ribosome dysfunction.
Anupama Narla, Benjamin L Ebert. Blood 2010
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Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
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Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.
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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
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The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
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Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae.
M E Schmitt, D A Clayton. Mol Cell Biol 1993
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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
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O Mäkitie. J Med Genet 1992
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Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex.
Tim J M Welting, Walther J van Venrooij, Ger J M Pruijn. Nucleic Acids Res 2004
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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.
Davide Ruggero, Silvia Grisendi, Francesco Piazza, Eduardo Rego, Francesca Mari, Pulivarthi H Rao, Carlos Cordon-Cardo, Pier Paolo Pandolfi. Science 2003
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Accurate processing of a eukaryotic precursor ribosomal RNA by ribonuclease MRP in vitro.
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RMRP is a non-coding RNA essential for early murine development.
Joseph Rosenbluh, Deepak Nijhawan, Zhao Chen, Kwok-Kin Wong, Kenkichi Masutomi, William C Hahn. PLoS One 2011
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Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, David L Rimoin, Outi Mäkitie, Ilkka Kaitila. Eur J Hum Genet 2002
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RNase MRP and disease.
Sandy Mattijssen, Tim J M Welting, Ger J M Pruijn. Wiley Interdiscip Rev RNA 2010
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Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.
Andrew Yoon, Guang Peng, Yves Brandenburger, Ornella Zollo, Wei Xu, Eduardo Rego, Davide Ruggero. Science 2006
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RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
L Bonafé, K Schmitt, G Eich, A Giedion, A Superti-Furga. Clin Genet 2002
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A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication.
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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
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Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning.
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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
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The RNA of RNase MRP is required for normal processing of ribosomal RNA.
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Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
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Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
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Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
Jill Dixon, Natalie C Jones, Lisa L Sandell, Sachintha M Jayasinghe, Jennifer Crane, Jean-Philippe Rey, Michael J Dixon, Paul A Trainor. Proc Natl Acad Sci U S A 2006
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Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
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Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. Eur J Pediatr 1998
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Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Kelly A McGowan, Jun Z Li, Christopher Y Park, Veronica Beaudry, Holly K Tabor, Amit J Sabnis, Weibin Zhang, Helmut Fuchs, Martin Hrabé de Angelis, Richard M Myers,[...]. Nat Genet 2008
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Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
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Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction.
Stefano Fumagalli, Alessandro Di Cara, Arti Neb-Gulati, Francois Natt, Sandy Schwemberger, Jonathan Hall, George F Babcock, Rosa Bernardi, Pier Paolo Pandolfi, George Thomas. Nat Cell Biol 2009
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
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Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Valérie Choesmel, Daniel Bacqueville, Jacques Rouquette, Jacqueline Noaillac-Depeyre, Sébastien Fribourg, Aurore Crétien, Thierry Leblanc, Gil Tchernia, Lydie Da Costa, Pierre-Emmanuel Gleizes. Blood 2007
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RMRP mutations in cartilage-hair hypoplasia.
Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee, Jules G Leroy. Am J Med Genet A 2006
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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner,[...]. Science 2013
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9
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.