Literature DB >> 27786550

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

Jonathan A Kropski1, Lisa R Young1,2, Joy D Cogan3, Daphne B Mitchell1, Lisa H Lancaster1, John A Worrell4, Cheryl Markin1, Na Liu1, Wendi R Mason1, Tasha E Fingerlin5, David A Schwartz6, William E Lawson1,7, Timothy S Blackwell7,8,9, John A Phillips3,10, James E Loyd1.   

Abstract

Entities:  

Mesh:

Year:  2017        PMID: 27786550      PMCID: PMC5470751          DOI: 10.1164/rccm.201609-1820PP

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


× No keyword cloud information.
  53 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.  Peripheral blood proteins predict mortality in idiopathic pulmonary fibrosis.

Authors:  Thomas J Richards; Naftali Kaminski; Fred Baribaud; Susan Flavin; Carrie Brodmerkel; Daniel Horowitz; Katherine Li; Jiin Choi; Louis J Vuga; Kathleen O Lindell; Melinda Klesen; Yingze Zhang; Kevin F Gibson
Journal:  Am J Respir Crit Care Med       Date:  2012-01-01       Impact factor: 21.405

3.  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

4.  A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.

Authors:  Yingze Zhang; Imre Noth; Joe G N Garcia; Naftali Kaminski
Journal:  N Engl J Med       Date:  2011-04-21       Impact factor: 91.245

5.  Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.

Authors:  W E Lawson; S W Grant; V Ambrosini; K E Womble; E P Dawson; K B Lane; C Markin; E Renzoni; P Lympany; A Q Thomas; J Roldan; T A Scott; T S Blackwell; J A Phillips; J E Loyd; R M du Bois
Journal:  Thorax       Date:  2004-11       Impact factor: 9.139

6.  TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis.

Authors:  Justin M Oldham; Shwu-Fan Ma; Fernando J Martinez; Kevin J Anstrom; Ganesh Raghu; David A Schwartz; Eleanor Valenzi; Leah Witt; Cathryn Lee; Rekha Vij; Yong Huang; Mary E Strek; Imre Noth
Journal:  Am J Respir Crit Care Med       Date:  2015-12-15       Impact factor: 21.405

7.  A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis.

Authors:  Talmadge E King; Williamson Z Bradford; Socorro Castro-Bernardini; Elizabeth A Fagan; Ian Glaspole; Marilyn K Glassberg; Eduard Gorina; Peter M Hopkins; David Kardatzke; Lisa Lancaster; David J Lederer; Steven D Nathan; Carlos A Pereira; Steven A Sahn; Robert Sussman; Jeffrey J Swigris; Paul W Noble
Journal:  N Engl J Med       Date:  2014-05-18       Impact factor: 91.245

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.  Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

Authors:  Tasha E Fingerlin; Elissa Murphy; Weiming Zhang; Anna L Peljto; Kevin K Brown; Mark P Steele; James E Loyd; Gregory P Cosgrove; David Lynch; Steve Groshong; Harold R Collard; Paul J Wolters; Williamson Z Bradford; Karl Kossen; Scott D Seiwert; Roland M du Bois; Christine Kim Garcia; Megan S Devine; Gunnar Gudmundsson; Helgi J Isaksson; Naftali Kaminski; Yingze Zhang; Kevin F Gibson; Lisa H Lancaster; Joy D Cogan; Wendi R Mason; Toby M Maher; Philip L Molyneaux; Athol U Wells; Miriam F Moffatt; Moises Selman; Annie Pardo; Dong Soon Kim; James D Crapo; Barry J Make; Elizabeth A Regan; Dinesha S Walek; Jerry J Daniel; Yoichiro Kamatani; Diana Zelenika; Keith Smith; David McKean; Brent S Pedersen; Janet Talbert; Raven N Kidd; Cheryl R Markin; Kenneth B Beckman; Mark Lathrop; Marvin I Schwarz; David A Schwartz
Journal:  Nat Genet       Date:  2013-04-14       Impact factor: 38.330

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

View more
  22 in total

Review 1.  Telomeres in Interstitial Lung Disease: The Short and the Long of It.

Authors:  Andrew M Courtwright; Souheil El-Chemaly
Journal:  Ann Am Thorac Soc       Date:  2019-02

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

Authors:  Jonathan A Kropski; Sara Reiss; Cheryl Markin; Kevin K Brown; David A Schwartz; Marvin I Schwarz; James E Loyd; John A Phillips; Timothy S Blackwell; Joy D Cogan
Journal:  Am J Respir Crit Care Med       Date:  2017-12-01       Impact factor: 21.405

3.  Reply: The Genetic Diagnosis of Interstitial Lung Disease: A Need for an International Consensus.

Authors:  Jonathan A Kropski; Lisa R Young; Timothy S Blackwell; James E Loyd
Journal:  Am J Respir Crit Care Med       Date:  2017-06-01       Impact factor: 21.405

4.  Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis.

Authors:  Gary M Hunninghake; Luisa D Quesada-Arias; Nikkola E Carmichael; Jose M Martinez Manzano; Sergio Poli De Frías; Maura Alvarez Baumgartner; Lisa DiGianni; Shannon N Gampala-Sagar; Dominick A Leone; Swati Gulati; Souheil El-Chemaly; Hilary J Goldberg; Rachel K Putman; Hiroto Hatabu; Benjamin A Raby; Ivan O Rosas
Journal:  Am J Respir Crit Care Med       Date:  2020-05-15       Impact factor: 21.405

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.  Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside.

Authors:  Abhishek A Mangaonkar; Mrinal M Patnaik
Journal:  Mayo Clin Proc       Date:  2018-05-24       Impact factor: 7.616

Review 7.  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

8.  DSP rs2076295 variants influence nintedanib and pirfenidone outcomes in idiopathic pulmonary fibrosis: a pilot study.

Authors:  Martina Doubkova; Eva Kriegova; Simona Littnerova; Petra Schneiderova; Martina Sterclova; Vladimir Bartos; Martina Plackova; Monika Zurkova; Radka Bittenglova; Vladimira Lostaková; Lenka Siskova; Pavlina Lisa; Hana Suldova; Michael Doubek; Jana Psikalova; Tomas Snizek; Pavlina Musilova; Martina Vasakova
Journal:  Ther Adv Respir Dis       Date:  2021 Jan-Dec       Impact factor: 4.031

9.  Validation of disease-specific biomarkers for the early detection of bronchopulmonary dysplasia.

Authors:  Alida S D Kindt; Kai M Förster; Suzan C M Cochius-den Otter; Andreas W Flemmer; Stefanie M Hauck; Andrew Flatley; Juliette Kamphuis; Stefan Karrasch; Jürgen Behr; Axel Franz; Christoph Härtel; Jan Krumsiek; Dick Tibboel; Anne Hilgendorff
Journal:  Pediatr Res       Date:  2022-05-20       Impact factor: 3.756

10.  Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.

Authors:  Elisa Baratella; Barbara Ruaro; Fabiola Giudici; Barbara Wade; Mario Santagiuliana; Francesco Salton; Paola Confalonieri; Michele Simbolo; Aldo Scarpa; Saverio Tollot; Cristina Marrocchio; Maria Assunta Cova; Marco Confalonieri
Journal:  Diagnostics (Basel)       Date:  2021-04-23
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.