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2)Spagnolo P, Grunewald J, du Bois RM. Genetic determinants of pulmonary fibrosis: evolving concepts. Lancet Respir Med. 2014; 2: 416-28
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8)Kropski JA, Blackwell TS, Loyd JE. The genetic basis of idiopathic pulmonary fibrosis. Eur Respir J. 2015; 45: 1717-27
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17)Hawkins A, Guttentag SH, Deterding R, et al. A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy. Am J Physiol Lung Cell Mol Physiol. 2015; 308: L33-47
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18)Wang Y, Kuan PJ, Xing C, et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet. 2009; 84: 52-9
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19)Campo I, Zorzetto M, Mariani F, et al. A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant. Respir Res. 2014; 15: 43
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20)Epaud R, Delestrain C, Louha M, et al. Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. Eur Respir J. 2014; 43: 638-41
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21)Armanios MY, Chen JJ, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007; 356: 1317-26
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22)Tsakiri KD, Cronkhite JT, Kuan PJ, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA. 2007; 104: 7552-7
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23)Cogan JD, Kropski JA, Zhao M, et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med. 2015; 191: 646-55
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24)Hisata S, Sakaguchi H, Kanegane H, et al. A novel missense mutation of DKC1 in dyskeratosis congenita with pulmonary fibrosis. Sarcoidosis Vasc Diffuse Lung Dis. 2013; 30: 221-5
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25)Kropski JA, Mitchell DB, Markin C, et al. A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. Chest. 2014; 146: e1-7
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26)Alder JK, Parry EM, Yegnasubramanian S, et al. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat. 2013; 34: 1481-5
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27)Alder JK, Stanley SE, Wagner CL, et al. Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. Chest. 2015; 147: 1361-8
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30)Liu T, Chung MJ, Ullenbruch M, et al. Telomerase activity is required for bleomycin-induced pulmonary fibrosis in mice. J Clin Invest. 2007; 117: 3800-9
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31)Kropski JA, Lawson WE, Young LR, et al. Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis. Dis Model Mech. 2013; 6: 9-17
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32)Son JY, Kim SY, Cho SH, et al. TGF-beta1 T869C polymorphism may affect susceptibility to idiopathic pulmonary fibrosis and disease severity. Lung. 2013; 191: 199-205
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33)Xaubet A, Marin-Arguedas A, Lario S, et al. Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2003; 168: 431-5
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34)Whyte M, Hubbard R, Meliconi R, et al. Increased risk of fibrosing alveolitis associated with interleukin-1 receptor antagonist and tumor necrosis factor-alpha gene polymorphisms. Am J Respir Crit Care Med. 2000; 162: 755-8
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35)Barlo NP, van Moorsel CH, Korthagen NM, et al. Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1beta in idiopathic pulmonary fibrosis. Clin Exp Immunol. 2011; 166: 346-51
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36)Korthagen NM, van Moorsel CH, Kazemier KM, et al. IL1RN genetic variations and risk of IPF: a meta-analysis and mRNA expression study. Immunogenetics. 2012; 64: 371-7
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37)Ahn MH, Park BL, Lee SH, et al. A promoter SNP rs4073T>A in the common allele of the interleukin 8 gene is associated with the development of idiopathic pulmonary fibrosis via the IL-8 protein enhancing mode. Respir Res. 2011; 12: 73
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38)O’Dwyer DN, Armstrong ME, Trujillo G, et al. The toll-like receptor 3 I412F polymorphism and disease progression in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2013; 188: 1442-50
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39)Xue J, Gochuico BR, Alawad AS, et al. The HLA class II allele DRB1*1501 is over-represented in patients with idiopathic pulmonary fibrosis. PLoS One. 2011; 6: e14715
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40)Korthagen NM, van Moorsel CH, Barlo NP, et al. Association between variations in cell cycle genes and idiopathic pulmonary fibrosis. PLoS One. 2012; 7: e30442
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41)International HapMap Consortium. A haplotype map of the human genome. Nature. 2005; 437: 1299-320
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42)Seibold MA, Wise AL, Speer MC, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med. 2011; 364: 1503-12
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43)Fingerlin TE, Murphy E, Zhang W, et al. Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet. 2013; 45: 613-20
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44)Borie R, Crestani B, Dieude P, et al. The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. PLoS One. 2013; 8: e70621
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45)Noth I, Zhang Y, Ma SF, et al. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Lancet Respir Med. 2013; 1: 309-17
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48)Mushiroda T, Wattanapokayakit S, Takahashi A, et al. A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. J Med Genet. 2008; 45: 654-6
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50)Han MK, Zhou Y, Murray S, et al. Lung microbiome and disease progression in idiopathic pulmonary fibrosis: an analysis of the comet study. Lancet Respir Med. 2014; 2: 548-56
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51)Molyneaux PL, Cox MJ, Willis-Owen SA, et al. The role of bacteria in the pathogenesis and progression of idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2014; 190: 906-13
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52)Morris A, Gibson K, Collman RG. The lung microbiome in idiopathic pulmonary fibrosis. What does it mean and what should we do about it? Am J Respir Crit Care Med. 2014; 190: 850-2
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53)Wang C, Zhuang Y, Guo W, et al. Mucin 5B promoter polymorphism is associated with susceptibility to interstitial lung diseases in Chinese males. PLoS One. 2014; 9: e104919
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54)Horimasu Y, Ohshimo S, Bonella F, et al. Muc5Bpromoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis. Respirology. 2015; 20: 439-44
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55)Peljto AL, Steele MP, Fingerlin TE, et al. The pulmonary fibrosis-associated MUC5B promoter polymorphism does not influence the development of interstitial pneumonia in systemic sclerosis. Chest. 2012; 142: 1584-8
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56)Maher TM. Beyond the diagnosis of idiopathic pulmonary fibrosis; the growing role of systems biology and stratified medicine. Curr Opin Pulm Med. 2013; 19: 460-5
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57)Angata T, Ishii T, Motegi T, et al. Loss of Siglec-14 reduces the risk of chronic obstructive pulmonary disease exacerbation. Cell Mol Life Sci. 2013; 70: 3199-210
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