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Times Cited: 819
Times Cited: 819
Times Cited
Times Co-cited
Similarity
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
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Specific association of human telomerase activity with immortal cells and cancer.
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Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
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Shelterin: the protein complex that shapes and safeguards human telomeres.
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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
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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
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Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
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Telomerase mutations in families with idiopathic pulmonary fibrosis.
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Cryo-EM structure of substrate-bound human telomerase holoenzyme.
Thi Hoang Duong Nguyen, Jane Tam, Robert A Wu, Basil J Greber, Daniel Toso, Eva Nogales, Kathleen Collins. Nature 2018
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Identification of a specific telomere terminal transferase activity in Tetrahymena extracts.
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Telomeres shorten during ageing of human fibroblasts.
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Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.
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Adult-onset pulmonary fibrosis caused by mutations in telomerase.
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Extension of life-span by introduction of telomerase into normal human cells.
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Diagnostic utility of telomere length testing in a hospital-based setting.
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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
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Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
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A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end.
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TERT promoter mutations in familial and sporadic melanoma.
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TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
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Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells.
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The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.
Jayakrishnan Nandakumar, Caitlin F Bell, Ina Weidenfeld, Arthur J Zaug, Leslie A Leinwand, Thomas R Cech. Nature 2012
Jayakrishnan Nandakumar, Caitlin F Bell, Ina Weidenfeld, Arthur J Zaug, Leslie A Leinwand, Thomas R Cech. Nature 2012
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Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
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TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.
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Telomerase Mechanism of Telomere Synthesis.
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Short telomeres are a risk factor for idiopathic pulmonary fibrosis.
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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
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A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon.
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
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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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Human telomerase: biogenesis, trafficking, recruitment, and activation.
Jens C Schmidt, Thomas R Cech. Genes Dev 2015
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The gastrointestinal manifestations of telomere-mediated disease.
Naudia L Jonassaint, Nini Guo, Joseph A Califano, Elizabeth A Montgomery, Mary Armanios. Aging Cell 2013
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17
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