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Literature DB >> 26908837

Epigenetic inheritance of telomere length obscures identification of causative PARN locus.

Chao Xing¹, Christine Kim Garcia².

Abstract

Entities: Chemical Disease Gene Mutation Species

Keywords: Epigenetics; Linkage; mendelian genetics; pulmonary fibrosis; telomere

Mesh：

Substances：

Year: 2016 PMID： 26908837 PMCID： PMC4875813 DOI： 10.1136/jmedgenet-2015-103685

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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10 in total

1. Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees.

Authors: Ellen M Wijsman; Joseph H Rothstein; Elizabeth A Thompson
Journal: Am J Hum Genet Date: 2006-09-20 Impact factor: 11.025

2. Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.

Authors: Diane H Moon; Matthew Segal; Baris Boyraz; Eva Guinan; Inga Hofmann; Patrick Cahan; Albert K Tai; Suneet Agarwal
Journal: Nat Genet Date: 2015-10-19 Impact factor: 38.330

3. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

Authors: 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
Journal: J Clin Invest Date: 2015-04-20 Impact factor: 14.808

4. Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Authors: Alberto Diaz de Leon; Jennifer T Cronkhite; Anna-Luise A Katzenstein; J David Godwin; Ganesh Raghu; Craig S Glazer; Randall L Rosenblatt; Carlos E Girod; Edward R Garrity; Chao Xing; Christine Kim Garcia
Journal: PLoS One Date: 2010-05-19 Impact factor: 3.240

5. Telomerase mutations in families with idiopathic pulmonary fibrosis.

Authors: 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; Peter M Lansdorp; Carol W Greider; James E Loyd
Journal: N Engl J Med Date: 2007-03-29 Impact factor: 91.245

6. Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Authors: 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
Journal: Proc Natl Acad Sci U S A Date: 2007-04-25 Impact factor: 11.205

7. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Authors: 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
Journal: Nat Genet Date: 2015-04-13 Impact factor: 41.307

8. Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.

Authors: Kyle M Walsh; Veryan Codd; Ivan V Smirnov; Terri Rice; Paul A Decker; Helen M Hansen; Thomas Kollmeyer; Matthew L Kosel; Annette M Molinaro; Lucie S McCoy; Paige M Bracci; Belinda S Cabriga; Melike Pekmezci; Shichun Zheng; Joseph L Wiemels; Alexander R Pico; Tarik Tihan; Mitchell S Berger; Susan M Chang; Michael D Prados; Daniel H Lachance; Brian Patrick O'Neill; Hugues Sicotte; Jeanette E Eckel-Passow; Pim van der Harst; John K Wiencke; Nilesh J Samani; Robert B Jenkins; Margaret R Wrensch
Journal: Nat Genet Date: 2014-06-08 Impact factor: 38.330

9. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

Authors: Santhosh Dhanraj; Sethu Madhava Rao Gunja; Adam P Deveau; Mikael Nissbeck; Boonchai Boonyawat; Andrew J Coombs; Alessandra Renieri; Mafalda Mucciolo; Annabella Marozza; Sabrina Buoni; Lesley Turner; Hongbing Li; Ameer Jarrar; Mathura Sabanayagam; Melanie Kirby; Mary Shago; Dalila Pinto; Jason N Berman; Stephen W Scherer; Anders Virtanen; Yigal Dror
Journal: J Med Genet Date: 2015-09-04 Impact factor: 6.318

10. Identification of seven loci affecting mean telomere length and their association with disease.

Authors: Veryan Codd; Christopher P Nelson; Eva Albrecht; Massimo Mangino; Joris Deelen; Jessica L Buxton; Jouke Jan Hottenga; Krista Fischer; Tõnu Esko; Ida Surakka; Linda Broer; Dale R Nyholt; Irene Mateo Leach; Perttu Salo; Sara Hägg; Mary K Matthews; Jutta Palmen; Giuseppe D Norata; Paul F O'Reilly; Danish Saleheen; Najaf Amin; Anthony J Balmforth; Marian Beekman; Rudolf A de Boer; Stefan Böhringer; Peter S Braund; Paul R Burton; Anton J M de Craen; Matthew Denniff; Yanbin Dong; Konstantinos Douroudis; Elena Dubinina; Johan G Eriksson; Katia Garlaschelli; Dehuang Guo; Anna-Liisa Hartikainen; Anjali K Henders; Jeanine J Houwing-Duistermaat; Laura Kananen; Lennart C Karssen; Johannes Kettunen; Norman Klopp; Vasiliki Lagou; Elisabeth M van Leeuwen; Pamela A Madden; Reedik Mägi; Patrik K E Magnusson; Satu Männistö; Mark I McCarthy; Sarah E Medland; Evelin Mihailov; Grant W Montgomery; Ben A Oostra; Aarno Palotie; Annette Peters; Helen Pollard; Anneli Pouta; Inga Prokopenko; Samuli Ripatti; Veikko Salomaa; H Eka D Suchiman; Ana M Valdes; Niek Verweij; Ana Viñuela; Xiaoling Wang; H-Erich Wichmann; Elisabeth Widen; Gonneke Willemsen; Margaret J Wright; Kai Xia; Xiangjun Xiao; Dirk J van Veldhuisen; Alberico L Catapano; Martin D Tobin; Alistair S Hall; Alexandra I F Blakemore; Wiek H van Gilst; Haidong Zhu; Jeanette Erdmann; Muredach P Reilly; Sekar Kathiresan; Heribert Schunkert; Philippa J Talmud; Nancy L Pedersen; Markus Perola; Willem Ouwehand; Jaakko Kaprio; Nicholas G Martin; Cornelia M van Duijn; Iiris Hovatta; Christian Gieger; Andres Metspalu; Dorret I Boomsma; Marjo-Riitta Jarvelin; P Eline Slagboom; John R Thompson; Tim D Spector; Pim van der Harst; Nilesh J Samani
Journal: Nat Genet Date: 2013-04 Impact factor: 38.330