Literature DB >> 26232478

Telomeres revisited: RTEL1 variants in pulmonary fibrosis.

Jonathan A Kropski1, James E Loyd2.   

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Year:  2015        PMID： 26232478      PMCID： PMC5084689          DOI： 10.1183/13993003.00710-2015

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  33 in total

1.  Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

Authors:  Ralph Epaud; Céline Delestrain; Malek Louha; Stéphanie Simon; Pascale Fanen; Abdellatif Tazi
Journal:  Eur Respir J       Date:  2013-10-17       Impact factor: 16.671

2.  Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation.

Authors:  Atsuro Fukuhara; Yoshinori Tanino; Taeko Ishii; Yayoi Inokoshi; Kazue Saito; Naoko Fukuhara; Suguru Sato; Junpei Saito; Takashi Ishida; Hiroki Yamaguchi; Mitsuru Munakata
Journal:  Eur Respir J       Date:  2013-09-26       Impact factor: 16.671

3.  A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

Authors:  Jonathan A Kropski; Daphne B Mitchell; Cheryl Markin; Vasiliy V Polosukhin; Leena Choi; Joyce E Johnson; William E Lawson; John A Phillips; Joy D Cogan; Timothy S Blackwell; James E Loyd
Journal:  Chest       Date:  2014-07       Impact factor: 9.410

4.  Telomerase deficiency does not alter bleomycin-induced fibrosis in mice.

Authors:  Amber L Degryse; Xiaochuan C Xu; J Luke Newman; Daphne B Mitchell; Harikrishna Tanjore; Vasiliy V Polosukhin; Brittany R Jones; Frank B McMahon; Linda A Gleaves; John A Phillips; Joy D Cogan; Timothy S Blackwell; William E Lawson
Journal:  Exp Lung Res       Date:  2012-04       Impact factor: 2.459

5.  Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Authors:  Caroline Kannengiesser; Raphael Borie; Christelle Ménard; Marion Réocreux; Patrick Nitschké; Steven Gazal; Hervé Mal; Camille Taillé; Jacques Cadranel; Hilario Nunes; Dominique Valeyre; Jean François Cordier; Isabelle Callebaut; Catherine Boileau; Vincent Cottin; Bernard Grandchamp; Patrick Revy; Bruno Crestani
Journal:  Eur Respir J       Date:  2015-05-28       Impact factor: 16.671

6.  Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Authors:  Tangui Le Guen; Laurent Jullien; Fabien Touzot; Michael Schertzer; Laetitia Gaillard; Mylène Perderiset; Wassila Carpentier; Patrick Nitschke; Capucine Picard; Gérard Couillault; Jean Soulier; Alain Fischer; Isabelle Callebaut; Nada Jabado; Arturo Londono-Vallejo; Jean-Pierre de Villartay; Patrick Revy
Journal:  Hum Mol Genet       Date:  2013-04-15       Impact factor: 6.150

7.  Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.

Authors:  Jonathan K Alder; Susan E Stanley; Christa L Wagner; Makenzie Hamilton; Vidya Sagar Hanumanthu; Mary Armanios
Journal:  Chest       Date:  2015-05       Impact factor: 9.410

8.  Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

Authors:  Jonathan K Alder; Erin M Parry; Srinivasan Yegnasubramanian; Christa L Wagner; Lawrence M Lieblich; Robert Auerbach; Arleen D Auerbach; Sarah J Wheelan; Mary Armanios
Journal:  Hum Mutat       Date:  2013-09-11       Impact factor: 4.878

9.  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

10.  Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.

Authors:  Leann L Silhan; Pali D Shah; Daniel C Chambers; Laurie D Snyder; Gerdt C Riise; Christa L Wagner; Eva Hellström-Lindberg; Jonathan B Orens; Juliette F Mewton; Sonye K Danoff; Murat O Arcasoy; Mary Armanios
Journal:  Eur Respir J       Date:  2014-05-15       Impact factor: 16.671
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  3 in total

Review 1.  Genetics of human telomere biology disorders.

Authors:  Patrick Revy; Caroline Kannengiesser; Alison A Bertuch
Journal:  Nat Rev Genet       Date:  2022-09-23       Impact factor: 59.581

2.  Association between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han population.

Authors:  Yipeng Ding; Heping Xu; Jinjian Yao; Dongchuan Xu; Ping He; Shengyang Yi; Quanni Li; Yuanshui Liu; Cibing Wu; Zhongjie Tian
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2017-03-17

3.  Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.

Authors:  Richard J Allen; Beatriz Guillen-Guio; Justin M Oldham; Shwu-Fan Ma; Amy Dressen; Megan L Paynton; Luke M Kraven; Ma'en Obeidat; Xuan Li; Michael Ng; Rebecca Braybrooke; Maria Molina-Molina; Brian D Hobbs; Rachel K Putman; Phuwanat Sakornsakolpat; Helen L Booth; William A Fahy; Simon P Hart; Mike R Hill; Nik Hirani; Richard B Hubbard; Robin J McAnulty; Ann B Millar; Vidyia Navaratnam; Eunice Oballa; Helen Parfrey; Gauri Saini; Moira K B Whyte; Yingze Zhang; Naftali Kaminski; Ayodeji Adegunsoye; Mary E Strek; Margaret Neighbors; Xuting R Sheng; Gunnar Gudmundsson; Vilmundur Gudnason; Hiroto Hatabu; David J Lederer; Ani Manichaikul; John D Newell; George T O'Connor; Victor E Ortega; Hanfei Xu; Tasha E Fingerlin; Yohan Bossé; Ke Hao; Philippe Joubert; David C Nickle; Don D Sin; Wim Timens; Dominic Furniss; Andrew P Morris; Krina T Zondervan; Ian P Hall; Ian Sayers; Martin D Tobin; Toby M Maher; Michael H Cho; Gary M Hunninghake; David A Schwartz; Brian L Yaspan; Philip L Molyneaux; Carlos Flores; Imre Noth; R Gisli Jenkins; Louise V Wain
Journal:  Am J Respir Crit Care Med       Date:  2020-03-01       Impact factor: 30.528
  3 in total

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