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: 101
Times Cited: 101
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
63
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
56
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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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
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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
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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
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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
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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
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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
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
26
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
25
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
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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
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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
22
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
22
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
22
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
21
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
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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
20
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
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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
20
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
18
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
24
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
17
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
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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
16
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
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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
16
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Mary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, Robert A Brodsky, Anita Hawkins, Constance A Griffin, James R Eshleman, Alan R Cohen, Aravinda Chakravarti, Ada Hamosh,[...]. Proc Natl Acad Sci U S A 2005
Mary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, Robert A Brodsky, Anita Hawkins, Constance A Griffin, James R Eshleman, Alan R Cohen, Aravinda Chakravarti, Ada Hamosh,[...]. Proc Natl Acad Sci U S A 2005
15
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
17
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
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Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason, Inderjeet Dokal. Nat Genet 2004
Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason, Inderjeet Dokal. Nat Genet 2004
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Telomeres shorten during ageing of human fibroblasts.
C B Harley, A B Futcher, C W Greider. Nature 1990
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14
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
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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
14
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
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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
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A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end.
J R Mitchell, J Cheng, K Collins. Mol Cell Biol 1999
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14
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
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3' terminal diversity of MRP RNA and other human noncoding RNAs revealed by deep sequencing.
Katherine C Goldfarb, Thomas R Cech. BMC Mol Biol 2013
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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
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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
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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
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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
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Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
Blanche P Alter, Gabriela M Baerlocher, Sharon A Savage, Stephen J Chanock, Babette B Weksler, Judith P Willner, June A Peters, Neelam Giri, Peter M Lansdorp. Blood 2007
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The RNA component of human telomerase.
J Feng, W D Funk, S S Wang, S L Weinrich, A A Avilion, C P Chiu, R R Adams, E Chang, R C Allsopp, J Yu. Science 1995
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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
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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
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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.