Tim J M Welting, Sandy Mattijssen, Florence M A Peters, Nienke L van Doorn, Lianne Dekkers, Walther J van Venrooij, Hans A Heus, Luisa Bonafé, Ger J M Pruijn. Biochim Biophys Acta 2008
Times Cited: 21
Times Cited: 21
Times Cited
Times Co-cited
Similarity
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
66
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
61
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
61
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
57
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
57
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
57
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
47
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
47
Heterodimerization regulates RNase MRP/RNase P association, localization, and expression of Rpp20 and Rpp25.
Tim J M Welting, Florence M A Peters, Sanne M M Hensen, Nienke L van Doorn, Bastiaan J Kikkert, Jos M H Raats, Walther J van Venrooij, Ger J M Pruijn. RNA 2007
Tim J M Welting, Florence M A Peters, Sanne M M Hensen, Nienke L van Doorn, Bastiaan J Kikkert, Jos M H Raats, Walther J van Venrooij, Ger J M Pruijn. RNA 2007
42
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
42
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
33
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
33
Specific binding of a Pop6/Pop7 heterodimer to the P3 stem of the yeast RNase MRP and RNase P RNAs.
Anna Perederina, Olga Esakova, Hasan Koc, Mark E Schmitt, Andrey S Krasilnikov. RNA 2007
Anna Perederina, Olga Esakova, Hasan Koc, Mark E Schmitt, Andrey S Krasilnikov. RNA 2007
33
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
V A MCKUSICK, R ELDRIDGE, J A HOSTETLER, U RUANGWIT, J A EGELAND. Bull Johns Hopkins Hosp 1965
33
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
33
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam. J Med Genet 2003
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam. J Med Genet 2003
28
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.
Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
28
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
Yuichiro Hirose, Eiji Nakashima, Hirofumi Ohashi, Hiroshi Mochizuki, Yuki Bando, Tsutomu Ogata, Masanori Adachi, Emi Toba, Gen Nishimura, Shiro Ikegawa. J Hum Genet 2006
Yuichiro Hirose, Eiji Nakashima, Hirofumi Ohashi, Hiroshi Mochizuki, Yuki Bando, Tsutomu Ogata, Masanori Adachi, Emi Toba, Gen Nishimura, Shiro Ikegawa. J Hum Genet 2006
35
Ribonuclease P: the evolution of an ancient RNA enzyme.
Scott C Walker, David R Engelke. Crit Rev Biochem Mol Biol 2006
Scott C Walker, David R Engelke. Crit Rev Biochem Mol Biol 2006
28
The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis.
Ti Cai, Jason Aulds, Tina Gill, Michael Cerio, Mark E Schmitt. Genetics 2002
Ti Cai, Jason Aulds, Tina Gill, Michael Cerio, Mark E Schmitt. Genetics 2002
28
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
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
28
Interactions between subunits of Saccharomyces cerevisiae RNase MRP support a conserved eukaryotic RNase P/MRP architecture.
Tanya V Aspinall, James M B Gordon, Hayley J Bennett, Panagiotis Karahalios, John-Paul Bukowski, Scott C Walker, David R Engelke, Johanna M Avis. Nucleic Acids Res 2007
Tanya V Aspinall, James M B Gordon, Hayley J Bennett, Panagiotis Karahalios, John-Paul Bukowski, Scott C Walker, David R Engelke, Johanna M Avis. Nucleic Acids Res 2007
37
The RNA moiety of ribonuclease P is the catalytic subunit of the enzyme.
C Guerrier-Takada, K Gardiner, T Marsh, N Pace, S Altman. Cell 1983
C Guerrier-Takada, K Gardiner, T Marsh, N Pace, S Altman. Cell 1983
28
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
28
A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.
D D Chang, D A Clayton. Science 1987
D D Chang, D A Clayton. Science 1987
28
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
28
Purification and characterization of Rpp25, an RNA-binding protein subunit of human ribonuclease P.
Cecilia Guerrier-Takada, Paul S Eder, Venkat Gopalan, Sidney Altman. RNA 2002
Cecilia Guerrier-Takada, Paul S Eder, Venkat Gopalan, Sidney Altman. RNA 2002
28
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
28
Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID).
E Castigli, A M Irani, R S Geha, T Chatila. Clin Exp Immunol 1995
E Castigli, A M Irani, R S Geha, T Chatila. Clin Exp Immunol 1995
38
Footprinting analysis demonstrates extensive similarity between eukaryotic RNase P and RNase MRP holoenzymes.
Olga Esakova, Anna Perederina, Chao Quan, Mark E Schmitt, Andrey S Krasilnikov. RNA 2008
Olga Esakova, Anna Perederina, Chao Quan, Mark E Schmitt, Andrey S Krasilnikov. RNA 2008
23
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
23
Purification and characterization of the nuclear RNase P holoenzyme complex reveals extensive subunit overlap with RNase MRP.
J R Chamberlain, Y Lee, W S Lane, D R Engelke. Genes Dev 1998
J R Chamberlain, Y Lee, W S Lane, D R Engelke. Genes Dev 1998
23
Genome-wide search for yeast RNase P substrates reveals role in maturation of intron-encoded box C/D small nucleolar RNAs.
Daniel J Coughlin, Jeffrey A Pleiss, Scott C Walker, Gregg B Whitworth, David R Engelke. Proc Natl Acad Sci U S A 2008
Daniel J Coughlin, Jeffrey A Pleiss, Scott C Walker, Gregg B Whitworth, David R Engelke. Proc Natl Acad Sci U S A 2008
23
Crystal structure of the RNA component of bacterial ribonuclease P.
Alfredo Torres-Larios, Kerren K Swinger, Andrey S Krasilnikov, Tao Pan, Alfonso Mondragón. Nature 2005
Alfredo Torres-Larios, Kerren K Swinger, Andrey S Krasilnikov, Tao Pan, Alfonso Mondragón. Nature 2005
23
Phylogenetic analysis of the structure of RNase MRP RNA in yeasts.
Xing Li, Daniel N Frank, Norman Pace, Janice M Zengel, Lasse Lindahl. RNA 2002
Xing Li, Daniel N Frank, Norman Pace, Janice M Zengel, Lasse Lindahl. RNA 2002
23
Conserved and variable domains of RNase MRP RNA.
Marcela Dávila López, Magnus Alm Rosenblad, Tore Samuelsson. RNA Biol 2009
Marcela Dávila López, Magnus Alm Rosenblad, Tore Samuelsson. RNA Biol 2009
23
RNA-protein interactions in the human RNase MRP ribonucleoprotein complex.
H Pluk, H van Eenennaam, S A Rutjes, G J Pruijn, W J van Venrooij. RNA 1999
H Pluk, H van Eenennaam, S A Rutjes, G J Pruijn, W J van Venrooij. RNA 1999
23
Differential association of protein subunits with the human RNase MRP and RNase P complexes.
Tim J M Welting, Bastiaan J Kikkert, Walther J van Venrooij, Ger J M Pruijn. RNA 2006
Tim J M Welting, Bastiaan J Kikkert, Walther J van Venrooij, Ger J M Pruijn. RNA 2006
23
Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.
Sandy Mattijssen, Ella R Hinson, Carla Onnekink, Pia Hermanns, Bernhard Zabel, Peter Cresswell, Ger J M Pruijn. Cell Mol Life Sci 2011
Sandy Mattijssen, Ella R Hinson, Carla Onnekink, Pia Hermanns, Bernhard Zabel, Peter Cresswell, Ger J M Pruijn. Cell Mol Life Sci 2011
23
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
23
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.
Jorge Muñoz-Robles, Luis Miguel Allende, Julian Clemente, Sara Calleja, Pilar Varela, Luis Gonzalez, Paloma de Pablos, Estela Paz, Pablo Morales. Immunobiology 2006
Jorge Muñoz-Robles, Luis Miguel Allende, Julian Clemente, Sara Calleja, Pilar Varela, Luis Gonzalez, Paloma de Pablos, Estela Paz, Pablo Morales. Immunobiology 2006
57
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis.
Sanna Toiviainen-Salo, Merja Kajosaari, Anneli Piilonen, Outi Mäkitie. J Pediatr 2008
Sanna Toiviainen-Salo, Merja Kajosaari, Anneli Piilonen, Outi Mäkitie. J Pediatr 2008
40
Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.
Albert C F Lam, Daniel H C Chan, Tony M F Tong, Mary H Y Tang, Steven Y F Lo, Ivan F M Lo, Stephen T S Lam. Prenat Diagn 2006
Albert C F Lam, Daniel H C Chan, Tony M F Tong, Mary H Y Tang, Steven Y F Lo, Ivan F M Lo, Stephen T S Lam. Prenat Diagn 2006
50
Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
19
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
19
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.
O Mäkitie. J Med Genet 1992
O Mäkitie. J Med Genet 1992
19
Phylogenetic-comparative analysis of the eukaryal ribonuclease P RNA.
D N Frank, C Adamidi, M A Ehringer, C Pitulle, N R Pace. RNA 2000
D N Frank, C Adamidi, M A Ehringer, C Pitulle, N R Pace. RNA 2000
19
The 5' end of yeast 5.8S rRNA is generated by exonucleases from an upstream cleavage site.
Y Henry, H Wood, J P Morrissey, E Petfalski, S Kearsey, D Tollervey. EMBO J 1994
Y Henry, H Wood, J P Morrissey, E Petfalski, S Kearsey, D Tollervey. EMBO J 1994
19
19
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