PMC Links for OMIM (Select 604212) - PMC

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Items: 4

Select item 47910941.

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. Author manuscript; available in PMC 2016 Mar 14.

Published in final edited form as: Nat Genet. 2015 Dec; 47(12): 1482–1488. Published online 2015 Oct 19. doi: 10.1038/ng.3423

PMCID:: PMC4791094

Abstract Article PDF–1.4M

Select item 44632022.

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 May 1; 125(5): 2151–2160. Published online 2015 Apr 20. doi: 10.1172/JCI78963

PMCID:: PMC4463202

Abstract Article PDF–2.1M

Select item 44148913.

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, Jonathan Weissler, John Fitzgerald, Corey Kershaw, Julia Klesney-Tait, Yolanda Mageto, Jerry W. Shay, Weizhen Ji, Kaya Bilguvar, Shrikant Mane, Richard P. Lifton, Christine Kim Garcia

Nat Genet. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Nat Genet. 2015 May; 47(5): 512–517. Published online 2015 Apr 13. doi: 10.1038/ng.3278