Literature DB >> 22365249

Genetic interstitial lung disease.

Megan Stuebner Devine1, Christine Kim Garcia.   

Abstract

The interstitial lung diseases (ILDs), or diffuse parenchymal lung diseases, are a heterogeneous collection of more than 100 different pulmonary disorders that affect the tissue and spaces surrounding the alveoli. Patients affected by ILD usually present with shortness of breath or cough; for many, there is evidence of pulmonary restriction, decreased diffusion capacity, and radiographic appearance of alveolar and/or reticulonodular infiltrates. This article reviews the inherited ILDs, with a focus on the diseases that may be seen by pulmonologists caring for adult patients. The authors conclude by briefly discussing the utility of genetic testing in this population. Copyright Â
© 2012 Elsevier Inc. All rights reserved.

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Year:  2011        PMID: 22365249      PMCID: PMC3292740          DOI: 10.1016/j.ccm.2011.11.001

Source DB:  PubMed          Journal:  Clin Chest Med        ISSN: 0272-5231            Impact factor:   2.878


  151 in total

1.  Incidence and prevalence of idiopathic pulmonary fibrosis.

Authors:  Ganesh Raghu; Derek Weycker; John Edelsberg; Williamson Z Bradford; Gerry Oster
Journal:  Am J Respir Crit Care Med       Date:  2006-06-29       Impact factor: 21.405

2.  The mode of presentation of sarcoidosis in Finland and Hokkaido, Japan. A comparative analysis of 571 Finnish and 686 Japanese patients.

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Journal:  Sarcoidosis Vasc Diffuse Lung Dis       Date:  1996-09       Impact factor: 0.670

3.  Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress.

Authors:  Meenakshi Maitra; Yongyu Wang; Robert D Gerard; Carole R Mendelson; Christine Kim Garcia
Journal:  J Biol Chem       Date:  2010-05-13       Impact factor: 5.157

4.  The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.

Authors:  T Suzuki; W Li; Q Zhang; E K Novak; E V Sviderskaya; A Wilson; D C Bennett; B A Roe; R T Swank; R A Spritz
Journal:  Genomics       Date:  2001-11       Impact factor: 5.736

Review 5.  Review: role of genetics in susceptibility and outcome of sarcoidosis.

Authors:  Johan Grunewald
Journal:  Semin Respir Crit Care Med       Date:  2010-07-27       Impact factor: 3.119

6.  A common mutation in the surfactant protein C gene associated with lung disease.

Authors:  H Scott Cameron; Marco Somaschini; Paola Carrera; Aaron Hamvas; Jeffrey A Whitsett; Susan E Wert; Gail Deutsch; Lawrence M Nogee
Journal:  J Pediatr       Date:  2005-03       Impact factor: 4.406

Review 7.  Pulmonary alveolar microlithiasis: review of Turkish reports.

Authors:  E S Ucan; A I Keyf; R Aydilek; Z Yalcin; S Sebit; M Kudu; U Ok
Journal:  Thorax       Date:  1993-02       Impact factor: 9.139

8.  Pulmonary manifestations in lysinuric protein intolerance.

Authors:  K Parto; E Svedström; M L Majurin; R Härkönen; O Simell
Journal:  Chest       Date:  1993-10       Impact factor: 9.410

9.  Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Authors: 
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

Review 10.  BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Authors:  J R Toro; M-H Wei; G M Glenn; M Weinreich; O Toure; C Vocke; M Turner; P Choyke; M J Merino; P A Pinto; S M Steinberg; L S Schmidt; W M Linehan
Journal:  J Med Genet       Date:  2008-01-30       Impact factor: 6.318

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  17 in total

Review 1.  Diseases of pulmonary surfactant homeostasis.

Authors:  Jeffrey A Whitsett; Susan E Wert; Timothy E Weaver
Journal:  Annu Rev Pathol       Date:  2015       Impact factor: 23.472

Review 2.  The molecular era of surfactant biology.

Authors:  Jeffrey A Whitsett
Journal:  Neonatology       Date:  2014-05-30       Impact factor: 4.035

Review 3.  Genetics and early detection in idiopathic pulmonary fibrosis.

Authors:  Rachel K Putman; Ivan O Rosas; Gary M Hunninghake
Journal:  Am J Respir Crit Care Med       Date:  2014-04-01       Impact factor: 21.405

4.  Modeling pulmonary alveolar microlithiasis by epithelial deletion of the Npt2b sodium phosphate cotransporter reveals putative biomarkers and strategies for treatment.

Authors:  Atsushi Saito; Nikolaos M Nikolaidis; Hassane Amlal; Yasuaki Uehara; Jason C Gardner; Kathleen LaSance; Lori B Pitstick; James P Bridges; Kathryn A Wikenheiser-Brokamp; Dennis W McGraw; Jason C Woods; Yves Sabbagh; Susan C Schiavi; Göksel Altinişik; Marko Jakopović; Yoshikazu Inoue; Francis X McCormack
Journal:  Sci Transl Med       Date:  2015-11-11       Impact factor: 17.956

5.  A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese.

Authors:  Juan Liu; Yanhan Deng; Zheng Wang; Biwen Mo; Jianghong Wei; Zhenshun Cheng; Qingzhen Peng; Guang Wei; Jingping Li; Ying Shu; Hua Yang; Shirong Fang; Guangwei Luo; Shuo Yang; Yingnan Wang; Jing Zhu; Jingping Yang; Ming Wu; Xuyan Xu; Renying Ge; Xiaoju Zhang; Weining Xiong; Xiaomei Wang; Zongzhe Li
Journal:  J Clin Lab Anal       Date:  2021-05-04       Impact factor: 2.352

6.  Mucin 5B promoter polymorphism is associated with susceptibility to interstitial lung diseases in Chinese males.

Authors:  Chunli Wang; Yi Zhuang; Wenwen Guo; Lili Cao; Huan Zhang; Lizhi Xu; Yimei Fan; Deping Zhang; Yaping Wang
Journal:  PLoS One       Date:  2014-08-14       Impact factor: 3.240

7.  Laying the ground for research of interstitial lung disease in our country: ILD India registry.

Authors:  Virendra Singh; Bharat Bhushan Sharma
Journal:  Lung India       Date:  2014-10

Review 8.  Genetic testing in diffuse parenchymal lung disease.

Authors:  Paolo Spagnolo; Fabrizio Luppi; Stefania Cerri; Luca Richeldi
Journal:  Orphanet J Rare Dis       Date:  2012-10-17       Impact factor: 4.123

Review 9.  Epidemiology of idiopathic pulmonary fibrosis.

Authors:  Brett Ley; Harold R Collard
Journal:  Clin Epidemiol       Date:  2013-11-25       Impact factor: 4.790

10.  Serum Levels of Surfactant Proteins in Patients with Combined Pulmonary Fibrosis and Emphysema (CPFE).

Authors:  Andriana I Papaioannou; Konstantinos Kostikas; Effrosyni D Manali; Georgia Papadaki; Aneza Roussou; Aris Spathis; Argyro Mazioti; Ioannis Tomos; Ilias Papanikolaou; Stelios Loukides; Kyriakos Chainis; Petros Karakitsos; Matthias Griese; Spyros Papiris
Journal:  PLoS One       Date:  2016-06-23       Impact factor: 3.240

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