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: 310
Times Cited: 310
Times Cited
Times Co-cited
Similarity
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
Yoshiko Maida, Mami Yasukawa, Miho Furuuchi, Timo Lassmann, Richard Possemato, Naoko Okamoto, Vivi Kasim, Yoshihide Hayashizaki, William C Hahn, Kenkichi Masutomi. Nature 2009
26
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
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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Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing.
Katherine C Goldfarb, Thomas R Cech. Genes Dev 2017
Katherine C Goldfarb, Thomas R Cech. Genes Dev 2017
41
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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22
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,[...]. Am J Hum Genet 2005
Christian T Thiel, Denise Horn, Bernhard Zabel, Arif B Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller,[...]. Am J Hum Genet 2005
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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
Tina Gill, Ti Cai, Jason Aulds, Sara Wierzbicki, Mark E Schmitt. Mol Cell Biol 2004
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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
Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch. Am J Hum Genet 2007
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Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.
O Mäkitie, I Kaitila. Eur J Pediatr 1993
O Mäkitie, I Kaitila. Eur J Pediatr 1993
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Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Benjamin L Ebert, Jennifer Pretz, Jocelyn Bosco, Cindy Y Chang, Pablo Tamayo, Naomi Galili, Azra Raza, David E Root, Eyal Attar, Steven R Ellis,[...]. Nature 2008
Benjamin L Ebert, Jennifer Pretz, Jocelyn Bosco, Cindy Y Chang, Pablo Tamayo, Naomi Galili, Azra Raza, David E Root, Eyal Attar, Steven R Ellis,[...]. Nature 2008
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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
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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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,[...]. Hum Mol Genet 2014
Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira,[...]. Hum Mol Genet 2014
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Ribosomopathies: human disorders of ribosome dysfunction.
Anupama Narla, Benjamin L Ebert. Blood 2010
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
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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
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
Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, David L Rimoin, Outi Mäkitie, Ilkka Kaitila. Eur J Hum Genet 2002
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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
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
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RNase MRP and disease.
Sandy Mattijssen, Tim J M Welting, Ger J M Pruijn. Wiley Interdiscip Rev RNA 2010
Sandy Mattijssen, Tim J M Welting, Ger J M Pruijn. Wiley Interdiscip Rev RNA 2010
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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.
Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila, Outi Mäkitie. Am J Med Genet A 2008
Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila, Outi Mäkitie. Am J Med Genet A 2008
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Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.
O Mäkitie. J Med Genet 1992
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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
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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
Tim J M Welting, Walther J van Venrooij, Ger J M Pruijn. Nucleic Acids Res 2004
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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
M E Schmitt, D A Clayton. Mol Cell Biol 1993
13
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
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.
D D Chang, D A Clayton. EMBO J 1987
D D Chang, D A Clayton. EMBO J 1987
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Accurate processing of a eukaryotic precursor ribosomal RNA by ribonuclease MRP in vitro.
Z Lygerou, C Allmang, D Tollervey, B Séraphin. Science 1996
Z Lygerou, C Allmang, D Tollervey, B Séraphin. Science 1996
12
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
11
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
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
11
The RNA of RNase MRP is required for normal processing of ribosomal RNA.
S Chu, R H Archer, J M Zengel, L Lindahl. Proc Natl Acad Sci U S A 1994
S Chu, R H Archer, J M Zengel, L Lindahl. Proc Natl Acad Sci U S A 1994
10
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. Eur J Pediatr 1998
O Mäkitie, I Kaitila, E Savilahti. Eur J Pediatr 1998
17
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
Eiji Nakashima, Joseph R Tran, Tim J M Welting, Ger J M Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H Schurman, Jun Cheng, Fabio Candotti,[...]. Am J Med Genet A 2007
Eiji Nakashima, Joseph R Tran, Tim J M Welting, Ger J M Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H Schurman, Jun Cheng, Fabio Candotti,[...]. Am J Med Genet A 2007
37
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Hanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A Sieff, Peter E Newburger,[...]. Am J Hum Genet 2008
Hanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A Sieff, Peter E Newburger,[...]. Am J Hum Genet 2008
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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
Andrew Yoon, Guang Peng, Yves Brandenburger, Ornella Zollo, Wei Xu, Eduardo Rego, Davide Ruggero. Science 2006
9
Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning.
Nadya Kondrashov, Aya Pusic, Craig R Stumpf, Kunihiko Shimizu, Andrew C Hsieh, Junko Ishijima, Toshihiko Shiroishi, Maria Barna. Cell 2011
Nadya Kondrashov, Aya Pusic, Craig R Stumpf, Kunihiko Shimizu, Andrew C Hsieh, Junko Ishijima, Toshihiko Shiroishi, Maria Barna. Cell 2011
9
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
Davide Ruggero, Silvia Grisendi, Francesco Piazza, Eduardo Rego, Francesca Mari, Pulivarthi H Rao, Carlos Cordon-Cardo, Pier Paolo Pandolfi. Science 2003
9
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Joy Armistead, Sunita Khatkar, Britta Meyer, Brian L Mark, Nehal Patel, Gail Coghlan, Ryan E Lamont, Shuangbo Liu, Jill Wiechert, Peter A Cattini,[...]. Am J Hum Genet 2009
Joy Armistead, Sunita Khatkar, Britta Meyer, Brian L Mark, Nehal Patel, Gail Coghlan, Ryan E Lamont, Shuangbo Liu, Jill Wiechert, Peter A Cattini,[...]. Am J Hum Genet 2009
12
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Nicholas L Rider, D Holmes Morton, Erik Puffenberger, Christine L Hendrickson, Donna L Robinson, Kevin A Strauss. Clin Immunol 2009
Nicholas L Rider, D Holmes Morton, Erik Puffenberger, Christine L Hendrickson, Donna L Robinson, Kevin A Strauss. Clin Immunol 2009
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Tuning the ribosome: The influence of rRNA modification on eukaryotic ribosome biogenesis and function.
Katherine E Sloan, Ahmed S Warda, Sunny Sharma, Karl-Dieter Entian, Denis L J Lafontaine, Markus T Bohnsack. RNA Biol 2017
Katherine E Sloan, Ahmed S Warda, Sunny Sharma, Karl-Dieter Entian, Denis L J Lafontaine, Markus T Bohnsack. RNA Biol 2017
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Defective ribosome assembly in Shwachman-Diamond syndrome.
Chi C Wong, David Traynor, Nicolas Basse, Robert R Kay, Alan J Warren. Blood 2011
Chi C Wong, David Traynor, Nicolas Basse, Robert R Kay, Alan J Warren. Blood 2011
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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
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
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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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Beatriz Goyenechea, Tobias F Menne, Africa González Fernández, Paul Simpson, Clive S D'Santos, Mark J Arends,[...]. Genes Dev 2011
Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Beatriz Goyenechea, Tobias F Menne, Africa González Fernández, Paul Simpson, Clive S D'Santos, Mark J Arends,[...]. Genes Dev 2011
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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
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
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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,[...]. J Allergy Clin Immunol 2011
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,[...]. J Allergy Clin Immunol 2011
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Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Fotini D Kavadas, Silvia Giliani, Yiping Gu, Evelina Mazzolari, Andrea Bates, Eleonora Pegoiani, Chaim M Roifman, Luigi D Notarangelo. J Allergy Clin Immunol 2008
Fotini D Kavadas, Silvia Giliani, Yiping Gu, Evelina Mazzolari, Andrea Bates, Eleonora Pegoiani, Chaim M Roifman, Luigi D Notarangelo. J Allergy Clin Immunol 2008
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Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
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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
Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner,[...]. Science 2013
8
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.