Literature DB >> 30525901

Homozygous Rare PARN Missense Mutation in Familial Pulmonary Fibrosis.

David Zhang1, Zhengyang Zhou1, Muhanned Abu-Hijleh1, Kiran Batra1, Chao Xing1, Christine Kim Garcia1.   

Abstract

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Year:  2019        PMID： 30525901      PMCID： PMC6423103          DOI： 10.1164/rccm.201809-1632LE

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


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  8 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.  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

Review 3.  Insights from human genetic studies of lung and organ fibrosis.

Authors:  Christine Kim Garcia
Journal:  J Clin Invest       Date:  2018-01-02       Impact factor: 14.808

4.  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

5.  Idiopathic pulmonary fibrosis in US Medicare beneficiaries aged 65 years and older: incidence, prevalence, and survival, 2001-11.

Authors:  Ganesh Raghu; Shih-Yin Chen; Wei-Shi Yeh; Brad Maroni; Qian Li; Yuan-Chi Lee; Harold R Collard
Journal:  Lancet Respir Med       Date:  2014-05-27       Impact factor: 30.700

6.  Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation.

Authors:  Bridget D Stuart; Joyce S Lee; Julia Kozlitina; Imre Noth; Megan S Devine; Craig S Glazer; Fernando Torres; Vaidehi Kaza; Carlos E Girod; Kirk D Jones; Brett M Elicker; Shwu-Fan Ma; Rekha Vij; Harold R Collard; Paul J Wolters; Christine Kim Garcia
Journal:  Lancet Respir Med       Date:  2014-06-16       Impact factor: 30.700

7.  BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data.

Authors:  Vagheesh Narasimhan; Petr Danecek; Aylwyn Scally; Yali Xue; Chris Tyler-Smith; Richard Durbin
Journal:  Bioinformatics       Date:  2016-01-30       Impact factor: 6.937

8.  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
  8 in total
  5 in total

Review 1.  Familial Interstitial Lung Disease.

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

Review 2.  Update in Interstitial Lung Disease 2019.

Authors:  Sydney B Montesi; Jolene H Fisher; Fernando J Martinez; Moisés Selman; Annie Pardo; Kerri A Johannson
Journal:  Am J Respir Crit Care Med       Date:  2020-08-15       Impact factor: 21.405

Review 3.  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

4.  The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group.

Authors:  Chad A Newton; Justin M Oldham; Carolyn Applegate; Nikkola Carmichael; Karen Powell; Dan Dilling; Shelley L Schmidt; Mary Beth Scholand; Mary Armanios; Christine Kim Garcia; Jonathan A Kropski; Janet Talbert
Journal:  Chest       Date:  2022-03-23       Impact factor: 10.262

Review 5.  Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications.

Authors:  David Zhang; Chad A Newton
Journal:  Chest       Date:  2021-06-26       Impact factor: 9.410
  5 in total

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