Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Hemanth Tummala, Amanda Walne, Laura Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed, Vincent Plagnol, Thomas Vulliamy, Inderjeet Dokal. J Clin Invest 2015
Times Cited: 115
Times Cited: 115
Times Cited
Times Co-cited
Similarity
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Bridget D Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, Carlos E Girod,[...]. Nat Genet 2015
Bridget D Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, Carlos E Girod,[...]. Nat Genet 2015
58
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.
Diane H Moon, Matthew Segal, Baris Boyraz, Eva Guinan, Inga Hofmann, Patrick Cahan, Albert K Tai, Suneet Agarwal. Nat Genet 2015
Diane H Moon, Matthew Segal, Baris Boyraz, Eva Guinan, Inga Hofmann, Patrick Cahan, Albert K Tai, Suneet Agarwal. Nat Genet 2015
51
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni,[...]. J Med Genet 2015
Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni,[...]. J Med Genet 2015
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Human Telomerase RNA Processing and Quality Control.
Chi-Kang Tseng, Hui-Fang Wang, Allison M Burns, Morgan R Schroeder, Martina Gaspari, Peter Baumann. Cell Rep 2015
Chi-Kang Tseng, Hui-Fang Wang, Allison M Burns, Morgan R Schroeder, Martina Gaspari, Peter Baumann. Cell Rep 2015
32
A Polyadenylation-Dependent 3' End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA.
Duy Nguyen, Valérie Grenier St-Sauveur, Danny Bergeron, Fabien Dupuis-Sandoval, Michelle S Scott, François Bachand. Cell Rep 2015
Duy Nguyen, Valérie Grenier St-Sauveur, Danny Bergeron, Fabien Dupuis-Sandoval, Michelle S Scott, François Bachand. Cell Rep 2015
36
Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.
Siddharth Shukla, Jens C Schmidt, Katherine C Goldfarb, Thomas R Cech, Roy Parker. Nat Struct Mol Biol 2016
Siddharth Shukla, Jens C Schmidt, Katherine C Goldfarb, Thomas R Cech, Roy Parker. Nat Struct Mol Biol 2016
40
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
25
Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming.
Heike Berndt, Christiane Harnisch, Christiane Rammelt, Nadine Stöhr, Anne Zirkel, Juliane C Dohm, Heinz Himmelbauer, Joao-Paulo Tavanez, Stefan Hüttelmaier, Elmar Wahle. RNA 2012
Heike Berndt, Christiane Harnisch, Christiane Rammelt, Nadine Stöhr, Anne Zirkel, Juliane C Dohm, Heinz Himmelbauer, Joao-Paulo Tavanez, Stefan Hüttelmaier, Elmar Wahle. RNA 2012
22
Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease.
Baris Boyraz, Diane H Moon, Matthew Segal, Maud Z Muosieyiri, Asli Aykanat, Albert K Tai, Patrick Cahan, Suneet Agarwal. J Clin Invest 2016
Baris Boyraz, Diane H Moon, Matthew Segal, Maud Z Muosieyiri, Asli Aykanat, Albert K Tai, Patrick Cahan, Suneet Agarwal. J Clin Invest 2016
61
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed, Amanda Walne, Inderjeet Dokal. Proc Natl Acad Sci U S A 2008
Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed, Amanda Walne, Inderjeet Dokal. Proc Natl Acad Sci U S A 2008
21
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
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
20
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
19
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Franklin Zhong, Sharon A Savage, Marina Shkreli, Neelam Giri, Lea Jessop, Timothy Myers, Renee Chen, Blanche P Alter, Steven E Artandi. Genes Dev 2011
Franklin Zhong, Sharon A Savage, Marina Shkreli, Neelam Giri, Lea Jessop, Timothy Myers, Renee Chen, Blanche P Alter, Steven E Artandi. Genes Dev 2011
19
Telomerase mutations in families with idiopathic pulmonary fibrosis.
Mary Y Armanios, Julian J-L Chen, Joy D Cogan, Jonathan K Alder, Roxann G Ingersoll, Cheryl Markin, William E Lawson, Mingyi Xie, Irma Vulto, John A Phillips,[...]. N Engl J Med 2007
Mary Y Armanios, Julian J-L Chen, Joy D Cogan, Jonathan K Alder, Roxann G Ingersoll, Cheryl Markin, William E Lawson, Mingyi Xie, Irma Vulto, John A Phillips,[...]. N Engl J Med 2007
19
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Amanda J Walne, Tom Vulliamy, Anna Marrone, Richard Beswick, Michael Kirwan, Yuka Masunari, Fat-Hia Al-Qurashi, Mahmoud Aljurf, Inderjeet Dokal. Hum Mol Genet 2007
Amanda J Walne, Tom Vulliamy, Anna Marrone, Richard Beswick, Michael Kirwan, Yuka Masunari, Fat-Hia Al-Qurashi, Mahmoud Aljurf, Inderjeet Dokal. Hum Mol Genet 2007
18
A telomerase component is defective in the human disease dyskeratosis congenita.
J R Mitchell, E Wood, K Collins. Nature 1999
J R Mitchell, E Wood, K Collins. Nature 1999
18
Adult-onset pulmonary fibrosis caused by mutations in telomerase.
Kalliopi D Tsakiri, Jennifer T Cronkhite, Phillip J Kuan, Chao Xing, Ganesh Raghu, Jonathan C Weissler, Randall L Rosenblatt, Jerry W Shay, Christine Kim Garcia. Proc Natl Acad Sci U S A 2007
Kalliopi D Tsakiri, Jennifer T Cronkhite, Phillip J Kuan, Chao Xing, Ganesh Raghu, Jonathan C Weissler, Randall L Rosenblatt, Jerry W Shay, Christine Kim Garcia. Proc Natl Acad Sci U S A 2007
18
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate,[...]. Sci Transl Med 2016
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate,[...]. Sci Transl Med 2016
18
PARN and TOE1 Constitute a 3' End Maturation Module for Nuclear Non-coding RNAs.
Ahyeon Son, Jong-Eun Park, V Narry Kim. Cell Rep 2018
Ahyeon Son, Jong-Eun Park, V Narry Kim. Cell Rep 2018
48
A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
Andrew S Venteicher, Eladio B Abreu, Zhaojing Meng, Kelly E McCann, Rebecca M Terns, Timothy D Veenstra, Michael P Terns, Steven E Artandi. Science 2009
Andrew S Venteicher, Eladio B Abreu, Zhaojing Meng, Kelly E McCann, Rebecca M Terns, Timothy D Veenstra, Michael P Terns, Steven E Artandi. Science 2009
17
Poly(A)-specific ribonuclease (PARN): an allosterically regulated, processive and mRNA cap-interacting deadenylase.
Anders Virtanen, Niklas Henriksson, Per Nilsson, Mikael Nissbeck. Crit Rev Biochem Mol Biol 2013
Anders Virtanen, Niklas Henriksson, Per Nilsson, Mikael Nissbeck. Crit Rev Biochem Mol Biol 2013
34
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Bari J Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P Alter, Sharon A Savage. Hum Genet 2013
Bari J Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P Alter, Sharon A Savage. Hum Genet 2013
16
Poly(A)-specific ribonuclease mediates 3'-end trimming of Argonaute2-cleaved precursor microRNAs.
Mayuko Yoda, Daniel Cifuentes, Natsuko Izumi, Yuriko Sakaguchi, Tsutomu Suzuki, Antonio J Giraldez, Yukihide Tomari. Cell Rep 2013
Mayuko Yoda, Daniel Cifuentes, Natsuko Izumi, Yuriko Sakaguchi, Tsutomu Suzuki, Antonio J Giraldez, Yukihide Tomari. Cell Rep 2013
15
Cancer in dyskeratosis congenita.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
14
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Caroline Kannengiesser, Raphael Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunes,[...]. Eur Respir J 2015
Caroline Kannengiesser, Raphael Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunes,[...]. Eur Respir J 2015
14
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
Joy D Cogan, Jonathan A Kropski, Min Zhao, Daphne B Mitchell, Lynette Rives, Cheryl Markin, Errine T Garnett, Keri H Montgomery, Wendi R Mason, David F McKean,[...]. Am J Respir Crit Care Med 2015
Joy D Cogan, Jonathan A Kropski, Min Zhao, Daphne B Mitchell, Lynette Rives, Cheryl Markin, Errine T Garnett, Keri H Montgomery, Wendi R Mason, David F McKean,[...]. Am J Respir Crit Care Med 2015
14
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati, Sharon A Savage. Br J Haematol 2015
Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati, Sharon A Savage. Br J Haematol 2015
20
PARN deadenylase is involved in miRNA-dependent degradation of TP53 mRNA in mammalian cells.
Xiaokan Zhang, Emral Devany, Michael R Murphy, Galina Glazman, Mirjana Persaud, Frida E Kleiman. Nucleic Acids Res 2015
Xiaokan Zhang, Emral Devany, Michael R Murphy, Galina Glazman, Mirjana Persaud, Frida E Kleiman. Nucleic Acids Res 2015
42
Positive and negative feedback loops in the p53 and mRNA 3' processing pathways.
Emral Devany, Xiaokan Zhang, Ji Yeon Park, Bin Tian, Frida Esther Kleiman. Proc Natl Acad Sci U S A 2013
Emral Devany, Xiaokan Zhang, Ji Yeon Park, Bin Tian, Frida Esther Kleiman. Proc Natl Acad Sci U S A 2013
35
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Ashley M Burris, Bari J Ballew, Joshua B Kentosh, Clesson E Turner, Scott A Norton, Neelam Giri, Blanche P Alter, Anandani Nellan, Christopher Gamper, Kip R Hartman,[...]. Pediatr Neurol 2016
Ashley M Burris, Bari J Ballew, Joshua B Kentosh, Clesson E Turner, Scott A Norton, Neelam Giri, Blanche P Alter, Anandani Nellan, Christopher Gamper, Kip R Hartman,[...]. Pediatr Neurol 2016
73
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.
Blanche P Alter, Philip S Rosenberg, Neelam Giri, Gabriela M Baerlocher, Peter M Lansdorp, Sharon A Savage. Haematologica 2012
Blanche P Alter, Philip S Rosenberg, Neelam Giri, Gabriela M Baerlocher, Peter M Lansdorp, Sharon A Savage. Haematologica 2012
13
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Beverley H Anderson, Paul R Kasher, Josephine Mayer, Marcin Szynkiewicz, Emma M Jenkinson, Sanjeev S Bhaskar, Jill E Urquhart, Sarah B Daly, Jonathan E Dickerson, James O'Sullivan,[...]. Nat Genet 2012
Beverley H Anderson, Paul R Kasher, Josephine Mayer, Marcin Szynkiewicz, Emma M Jenkinson, Sanjeev S Bhaskar, Jill E Urquhart, Sarah B Daly, Jonathan E Dickerson, James O'Sullivan,[...]. Nat Genet 2012
13
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Tangui Le Guen, Laurent Jullien, Fabien Touzot, Michael Schertzer, Laetitia Gaillard, Mylène Perderiset, Wassila Carpentier, Patrick Nitschke, Capucine Picard, Gérard Couillault,[...]. Hum Mol Genet 2013
Tangui Le Guen, Laurent Jullien, Fabien Touzot, Michael Schertzer, Laetitia Gaillard, Mylène Perderiset, Wassila Carpentier, Patrick Nitschke, Capucine Picard, Gérard Couillault,[...]. Hum Mol Genet 2013
13
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Hande Kocak, Bari J Ballew, Kamlesh Bisht, Rebecca Eggebeen, Belynda D Hicks, Shalabh Suman, Adri O'Neil, Neelam Giri, Ivan Maillard, Blanche P Alter,[...]. Genes Dev 2014
Hande Kocak, Bari J Ballew, Kamlesh Bisht, Rebecca Eggebeen, Belynda D Hicks, Shalabh Suman, Adri O'Neil, Neelam Giri, Ivan Maillard, Blanche P Alter,[...]. Genes Dev 2014
15
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Sharon A Savage, Neelam Giri, Gabriela M Baerlocher, Nick Orr, Peter M Lansdorp, Blanche P Alter. Am J Hum Genet 2008
Sharon A Savage, Neelam Giri, Gabriela M Baerlocher, Nick Orr, Peter M Lansdorp, Blanche P Alter. Am J Hum Genet 2008
12
Telomeres shorten during ageing of human fibroblasts.
C B Harley, A B Futcher, C W Greider. Nature 1990
C B Harley, A B Futcher, C W Greider. Nature 1990
12
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Yiran Guo, Melissa Kartawinata, Jiankang Li, Hilda A Pickett, Juliana Teo, Tatjana Kilo, Pasquale M Barbaro, Brendan Keating, Yulan Chen, Lifeng Tian,[...]. Blood 2014
Yiran Guo, Melissa Kartawinata, Jiankang Li, Hilda A Pickett, Juliana Teo, Tatjana Kilo, Pasquale M Barbaro, Brendan Keating, Yulan Chen, Lifeng Tian,[...]. Blood 2014
17
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Amanda J Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal. Blood 2008
Amanda J Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal. Blood 2008
12
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Zhong Deng, Galina Glousker, Aliah Molczan, Alan J Fox, Noa Lamm, Jayaraju Dheekollu, Orr-El Weizman, Michael Schertzer, Zhuo Wang, Olga Vladimirova,[...]. Proc Natl Acad Sci U S A 2013
Zhong Deng, Galina Glousker, Aliah Molczan, Alan J Fox, Noa Lamm, Jayaraju Dheekollu, Orr-El Weizman, Michael Schertzer, Zhuo Wang, Olga Vladimirova,[...]. Proc Natl Acad Sci U S A 2013
12
Poly(A)-specific ribonuclease regulates the processing of small-subunit rRNAs in human cells.
Hideaki Ishikawa, Harunori Yoshikawa, Keiichi Izumikawa, Yutaka Miura, Masato Taoka, Yuko Nobe, Yoshio Yamauchi, Hiroshi Nakayama, Richard J Simpson, Toshiaki Isobe,[...]. Nucleic Acids Res 2017
Hideaki Ishikawa, Harunori Yoshikawa, Keiichi Izumikawa, Yutaka Miura, Masato Taoka, Yuko Nobe, Yoshio Yamauchi, Hiroshi Nakayama, Richard J Simpson, Toshiaki Isobe,[...]. Nucleic Acids Res 2017
52
Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.
Christian Montellese, Nathalie Montel-Lehry, Anthony K Henras, Ulrike Kutay, Pierre-Emmanuel Gleizes, Marie-Françoise O'Donohue. Nucleic Acids Res 2017
Christian Montellese, Nathalie Montel-Lehry, Anthony K Henras, Ulrike Kutay, Pierre-Emmanuel Gleizes, Marie-Françoise O'Donohue. Nucleic Acids Res 2017
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Disruption of Telomerase RNA Maturation Kinetics Precipitates Disease.
Caitlin M Roake, Lu Chen, Ananya L Chakravarthy, James E Ferrell, Grazia D Raffa, Steven E Artandi. Mol Cell 2019
Caitlin M Roake, Lu Chen, Ananya L Chakravarthy, James E Ferrell, Grazia D Raffa, Steven E Artandi. Mol Cell 2019
48
Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.
Jonathan K Alder, Susan E Stanley, Christa L Wagner, Makenzie Hamilton, Vidya Sagar Hanumanthu, Mary Armanios. Chest 2015
Jonathan K Alder, Susan E Stanley, Christa L Wagner, Makenzie Hamilton, Vidya Sagar Hanumanthu, Mary Armanios. Chest 2015
11
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal. Blood 2007
Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal. Blood 2007
11
Identification and Functional Analysis of the Pre-piRNA 3' Trimmer in Silkworms.
Natsuko Izumi, Keisuke Shoji, Yuriko Sakaguchi, Shozo Honda, Yohei Kirino, Tsutomu Suzuki, Susumu Katsuma, Yukihide Tomari. Cell 2016
Natsuko Izumi, Keisuke Shoji, Yuriko Sakaguchi, Shozo Honda, Yohei Kirino, Tsutomu Suzuki, Susumu Katsuma, Yukihide Tomari. Cell 2016
11
Destabilization of microRNAs in human cells by 3' deadenylation mediated by PARN and CUGBP1.
Takayuki Katoh, Hiroaki Hojo, Tsutomu Suzuki. Nucleic Acids Res 2015
Takayuki Katoh, Hiroaki Hojo, Tsutomu Suzuki. Nucleic Acids Res 2015
21
CTC1 Mutations in a patient with dyskeratosis congenita.
Rachel B Keller, Katelyn E Gagne, G Naheed Usmani, George K Asdourian, David A Williams, Inga Hofmann, Suneet Agarwal. Pediatr Blood Cancer 2012
Rachel B Keller, Katelyn E Gagne, G Naheed Usmani, George K Asdourian, David A Williams, Inga Hofmann, Suneet Agarwal. Pediatr Blood Cancer 2012
11
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.