Literature DB >> 28414520

Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families.

Jonathan A Kropski1, Sara Reiss1, Cheryl Markin1, Kevin K Brown2, David A Schwartz2,3, Marvin I Schwarz3, James E Loyd1, John A Phillips1, Timothy S Blackwell1,4, Joy D Cogan1.   

Abstract

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Year:  2017        PMID： 28414520      PMCID： PMC5736978          DOI： 10.1164/rccm.201703-0635LE

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  13 in total

1.  An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management.

Authors:  Ganesh Raghu; Harold R Collard; Jim J Egan; Fernando J Martinez; Juergen Behr; Kevin K Brown; Thomas V Colby; Jean-François Cordier; Kevin R Flaherty; Joseph A Lasky; David A Lynch; Jay H Ryu; Jeffrey J Swigris; Athol U Wells; Julio Ancochea; Demosthenes Bouros; Carlos Carvalho; Ulrich Costabel; Masahito Ebina; David M Hansell; Takeshi Johkoh; Dong Soon Kim; Talmadge E King; Yasuhiro Kondoh; Jeffrey Myers; Nestor L Müller; Andrew G Nicholson; Luca Richeldi; Moisés Selman; Rosalind F Dudden; Barbara S Griss; Shandra L Protzko; Holger J Schünemann
Journal:  Am J Respir Crit Care Med       Date:  2011-03-15       Impact factor: 21.405

2.  Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.

Authors:  Jonathan A Kropski; Lisa R Young; Joy D Cogan; Daphne B Mitchell; Lisa H Lancaster; John A Worrell; Cheryl Markin; Na Liu; Wendi R Mason; Tasha E Fingerlin; David A Schwartz; William E Lawson; Timothy S Blackwell; John A Phillips; James E Loyd
Journal:  Am J Respir Crit Care Med       Date:  2017-06-01       Impact factor: 21.405

3.  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

4.  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

5.  Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease.

Authors:  Baris Boyraz; Diane H Moon; Matthew Segal; Maud Z Muosieyiri; Asli Aykanat; Albert K Tai; Patrick Cahan; Suneet Agarwal
Journal:  J Clin Invest       Date:  2016-08-02       Impact factor: 14.808

6.  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

7.  Rare variants in RTEL1 are associated with familial interstitial pneumonia.

Authors:  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; Julia Powers; Elissa Murphy; Lana M Olson; Leena Choi; Dong-Sheng Cheng; Elizabeth Marchani Blue; Lisa R Young; Lisa H Lancaster; Mark P Steele; Kevin K Brown; Marvin I Schwarz; Tasha E Fingerlin; David A Schwartz; William E Lawson; James E Loyd; Zhongming Zhao; John A Phillips; Timothy S Blackwell
Journal:  Am J Respir Crit Care Med       Date:  2015-03-15       Impact factor: 21.405

8.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

9.  Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Authors:  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; Sharon A Savage
Journal:  Pediatr Neurol       Date:  2015-12-19       Impact factor: 3.372

10.  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
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  15 in total

1.  [Macrophage migration inhibitory factor promotes lung fibrosis via reactive oxygen species-mediated up-regulation of aerobic glycolysis].

Authors:  Yun Gao; Yu Chen; Huaping Yu; Haibing Lan
Journal:  Nan Fang Yi Ke Da Xue Xue Bao       Date:  2018-07-30

2.  From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.

Authors:  Lois M Dodson; Alessandro Baldan; Mikael Nissbeck; Sethu M R Gunja; Penelope E Bonnen; Geraldine Aubert; Sherri Birchansky; Anders Virtanen; Alison A Bertuch
Journal:  Hum Mutat       Date:  2019-09-15       Impact factor: 4.878

3.  Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Authors:  Sneh Lata; Maddalena Marasa; Yifu Li; David A Fasel; Emily Groopman; Vaidehi Jobanputra; Hila Rasouly; Adele Mitrotti; Rik Westland; Miguel Verbitsky; Jordan Nestor; Lindsey M Slater; Vivette D'Agati; Marcin Zaniew; Anna Materna-Kiryluk; Francesca Lugani; Gianluca Caridi; Luca Rampoldi; Aditya Mattoo; Chad A Newton; Maya K Rao; Jai Radhakrishnan; Wooin Ahn; Pietro A Canetta; Andrew S Bomback; Gerald B Appel; Corinne Antignac; Glen S Markowitz; Christine K Garcia; Krzysztof Kiryluk; Simone Sanna-Cherchi; Ali G Gharavi
Journal:  Ann Intern Med       Date:  2017-12-05       Impact factor: 25.391

4.  Regulation of human telomerase RNA biogenesis and localization.

Authors:  Jian Qin; Chantal Autexier
Journal:  RNA Biol       Date:  2020-09-02       Impact factor: 4.652

Review 5.  Familial Interstitial Lung Disease.

Authors:  Jonathan A Kropski
Journal:  Semin Respir Crit Care Med       Date:  2020-04-12       Impact factor: 3.119

Review 6.  Progress in Understanding and Treating Idiopathic Pulmonary Fibrosis.

Authors:  Jonathan A Kropski; Timothy S Blackwell
Journal:  Annu Rev Med       Date:  2019-01-27       Impact factor: 13.739

Review 7.  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

8.  Molecular markers of telomere dysfunction and senescence are common findings in the usual interstitial pneumonia pattern of lung fibrosis.

Authors:  Joyce S Lee; Janet La; Sara Aziz; Evgenia Dobrinskikh; Robert Brownell; Kirk D Jones; Natalia Achtar-Zadeh; Gary Green; Brett M Elicker; Jeffrey A Golden; Michael A Matthay; Jasleen Kukreja; David A Schwartz; Paul J Wolters
Journal:  Histopathology       Date:  2021-04-14       Impact factor: 7.778

Review 9.  Idiopathic pulmonary fibrosis: Disease mechanisms and drug development.

Authors:  Paolo Spagnolo; Jonathan A Kropski; Mark G Jones; Joyce S Lee; Giulio Rossi; Theodoros Karampitsakos; Toby M Maher; Argyrios Tzouvelekis; Christopher J Ryerson
Journal:  Pharmacol Ther       Date:  2020-12-24       Impact factor: 13.400

10.  Genes, other than Muc5b, play a role in bleomycin-induced lung fibrosis.

Authors:  Evgenia Dobrinskikh; Alani M Estrella; Corinne E Hennessy; Naoko Hara; Marvin I Schwarz; Jonathan S Kurche; Ivana V Yang; David A Schwartz
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2021-06-23       Impact factor: 6.011
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