The genetic basis of idiopathic pulmonary fibrosis

Efficacy and Safety of Nintedanib in Idiopathic Pulmonary Fibrosis

Richeldi, L., du Bois, R. M., Raghu, G., Azuma, A., Brown, K. K., Costabel, U., Cottin, V., Flaherty, K. R., Hansell, D. M., Inoue, Y., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1402584 · Cited by 4,654 · see citing works

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

King, T. E., Bradford, W. Z., Castro-Bernardini, S., Fagan, E. A., Glaspole, I., Glassberg, M. K., Gorina, E., Hopkins, P. M., Kardatzke, D., Lancaster, L., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1402582 · Cited by 3,975 · see citing works

One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering

Wang, H., Yang, H., Shivalila, C. S., Dawlaty, M. M., Cheng, A. W., Zhang, F., & Jaenisch, R. (2013) · Cell · doi:10.1016/j.cell.2013.04.025 · Cited by 3,495 · see citing works

Idiopathic pulmonary fibrosis

King, T. E., Pardo, A., & Selman, M. (2011) · The Lancet · doi:10.1016/s0140-6736(11)60052-4 · Cited by 2,194 · see citing works

Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease

Cho, S. W., Kim, S., Kim, J. M., & Kim, J.-S. (2013) · Nature Biotechnology · doi:10.1038/nbt.2507 · Cited by 1,863 · see citing works

Exome sequencing as a tool for Mendelian disease gene discovery

Bamshad, M. J., Ng, S. B. H., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., & Shendure, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3031 · Cited by 1,659 · see citing works

State of play in amyotrophic lateral sclerosis genetics

Renton, A. E., Chiò, A., & Traynor, B. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,563 · see citing works

Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

Armanios, M. Y., Chen, J. J.-L., Cogan, J. D., Alder, J. K., Ingersoll, R. G., Markin, C., Lawson, W. E., Xie, M., Vulto, I., Phillips, J. A., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066157 · Cited by 1,357 · see citing works

A Common MUC5B Promoter Polymorphism and Pulmonary Fibrosis

Seibold, M. A., Wise, A. L., Speer, M. C., Steele, M. P., Brown, K. M., Loyd, J. E., Fingerlin, T. E., Zhang, W., Guðmundsson, G., Groshong, S. D., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1013660 · Cited by 1,203 · see citing works

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

Hershberger, R. E., Hedges, D. J., & Morales, A. (2013) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2013.105 · Cited by 1,023 · see citing works

A Mutation in the Surfactant Protein C Gene Associated with Familial Interstitial Lung Disease

Nogee, L. M., Dunbar, A. E., Wert, S. E., Askin, F., Hamvas, A., & Whitsett, J. A. (2001) · New England Journal of Medicine · doi:10.1056/nejm200102223440805 · Cited by 929 · see citing works

Adult-onset pulmonary fibrosis caused by mutations in telomerase

Tsakiri, K. D., Cronkhite, J. T., Kuan, P. J., Xing, C., Raghu, G., Weissler, J. C., Rosenblatt, R. L., Shay, J. W., & Garcia, C. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701009104 · Cited by 894 · see citing works

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

Fingerlin, T. E., Murphy, E., Zhang, W., Peljto, A. L., Brown, K. K., Steele, M. P., Loyd, J. E., Cosgrove, G. P., Lynch, D., Groshong, S., et al. (2013) · Nature Genetics · doi:10.1038/ng.2609 · Cited by 809 · see citing works

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

Alder, J. K., Chen, J. J.-L., Lancaster, L., Danoff, S., Su, S.-C., Cogan, J. D., Vulto, I., Xie, M., Qi, X., Tuder, R. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804280105 · Cited by 805 · see citing works

Telomere Diseases

Calado, R. T., & Young, N. S. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0903373 · Cited by 783 · see citing works

Muc5b is required for airway defence

Roy, M. G., Livraghi-Butrico, A., Fletcher, A. A., McElwee, M. M., Evans, S. E., Boerner, R. M., Alexander, S. N., Bellinghausen, L. K., Song, A. S., Petrova, Y. M., et al. (2014) · Nature · doi:10.1038/nature12807 · Cited by 764 · see citing works

Heterozygosity for a Surfactant Protein C Gene Mutation Associated with Usual Interstitial Pneumonitis and Cellular Nonspecific Interstitial Pneumonitis in One Kindred

Thomas, A. Q., Lane, K., Phillips, J., Prince, M., Markin, C., Speer, M., Schwartz, D. A., Gaddipati, R., Marney, A., Johnson, J., et al. (2002) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200112-123oc · Cited by 641 · see citing works

Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study

Noth, I., Zhang, Y., Ma, S., Flores, C., Barber, M., Huang, Y., Broderick, S. M., Wade, M. S., Hysi, P. G., Scuirba, J., et al. (2013) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(13)70045-6 · Cited by 605 · see citing works

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

Cronkhite, J. T., Xing, C., Raghu, G., Chin, K. M., Torres, F., Rosenblatt, R. L., & Kim Garcia, C. (2008) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200804-550oc · Cited by 573 · see citing works

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., et al. (2014) · Science · doi:10.1126/science.1247363 · Cited by 538 · see citing works

Epithelial Endoplasmic Reticulum Stress and Apoptosis in Sporadic Idiopathic Pulmonary Fibrosis

Korfei, M., Ruppert, C., Mahavadi, P., Henneke, I., Markart, P., Koch, M., Lang, G., Fink, L., Bohle, R.-M., Seeger, W., et al. (2008) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200802-313oc · Cited by 508 · see citing works

Idiopathic Pulmonary Fibrosis

Selman, M., Mejía, M. E., & Pardo, A. (2007) · Springer eBooks · doi:10.1007/978-1-84628-326-0_6 · Cited by 500 · see citing works

Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer

Wang, Y., Kuan, P. J., Xing, C., Cronkhite, J. T., Torres, F., Rosenblatt, R. L., DiMaio, J. M., Kinch, L. N., Grishin, N. V., & Garcia, C. K. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.11.010 · Cited by 496 · see citing works

MUC5B Promoter Polymorphism and Interstitial Lung Abnormalities

Hunninghake, G. M., Hatabu, H., Okajima, Y., Gao, W. D., Dupuis, J., Latourelle, J. C., Nishino, M., Araki, T., Zazueta, O. E., Kurugol, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1216076 · Cited by 457 · see citing works

Association Between the MUC5B Promoter Polymorphism and Survival in Patients With Idiopathic Pulmonary Fibrosis

Peljto, A. L., Zhang, Y., Fingerlin, T. E., Ma, S., Garcia, J. G. N., Richards, T. J., Silveira, L. J., Lindell, K. O., Steele, M. P., Loyd, J. E., et al. (2013) · JAMA · doi:10.1001/jama.2013.5827 · Cited by 453 · see citing works

Clinical and Pathologic Features of Familial Interstitial Pneumonia

Steele, M. P., Speer, M. C., Loyd, J. E., Brown, K. K., Herron, A., Slifer, S. H., Burch, L. H., Wahidi, M. M., Phillips, J. A., Sporn, T. A., et al. (2005) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200408-1104oc · Cited by 432 · see citing works

Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection

Lawson, W. E., Crossno, P. F., Polosukhin, V. V., Roldan, J., Cheng, D., Lane, K. B., Blackwell, T. R., Xu, C., Markin, C. R., Ware, L. B., et al. (2008) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00382.2007 · Cited by 428 · see citing works

The telomerase reverse transcriptase regulates chromatin state and DNA damage responses

Masutomi, K., Possemato, R., Wong, J. M. Y., Currier, J. L., Tóthová, Z., Manola, J. B., Ganesan, S., Lansdorp, P. M., Collins, K., & Hahn, W. C. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503095102 · Cited by 381 · see citing works

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

Diaz de Leon, A., Cronkhite, J. T., Katzenstein, A.-L. A., Godwin, J. D., Raghu, G., Glazer, C. S., Rosenblatt, R. L., Girod, C. E., Garrity, E. R., Xing, C., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010680 · Cited by 377 · see citing works

Endoplasmic reticulum stress enhances fibrotic remodeling in the lungs

Lawson, W. E., Cheng, D., Degryse, A. L., Tanjore, H., Polosukhin, V. V., Xu, X. C., Newcomb, D. C., Jones, B. R., Roldán-Merino, J. F., Lane, K. B., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1107559108 · Cited by 363 · see citing works

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

Stuart, B. D., Lee, J. S., Kozlitina, J., Noth, I., Devine, M. S., Glazer, C. S., Torres, F., Kaza, V., Girod, C. E., Jones, K. D., et al. (2014) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(14)70124-9 · Cited by 310 · see citing works

Surfactant Protein C Mutations Are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort

van Moorsel, C. H. M., van Oosterhout, M. F. M., Barlo, N. P., de Jong, P. A., van der Vis, J. J., Ruven, H. J. T., van Es, H. W., van den Bosch, J. M. M., & Grutters, J. C. (2010) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200906-0953oc · Cited by 294 · see citing works

Human Cytomegalovirus Infection Activates and Regulates the Unfolded Protein Response

Isler, J. A., Skalet, A. H., & Alwine, J. C. (2005) · Journal of Virology · doi:10.1128/jvi.79.11.6890-6899.2005 · Cited by 285 · see citing works

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

Lawson, W. E. (2004) · Thorax · doi:10.1136/thx.2004.026336 · Cited by 272 · see citing works

Telomere Length Is a Determinant of Emphysema Susceptibility

Alder, J. K., Guo, N., Kembou, F., Parry, E. M., Anderson, C. J., Gorgy, A. I., Walsh, M. F., Sussan, T., Biswal, S., Mitzner, W., et al. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201103-0520oc · Cited by 265 · see citing works

A Surfactant Protein C Precursor Protein BRICHOS Domain Mutation Causes Endoplasmic Reticulum Stress, Proteasome Dysfunction, and Caspase 3 Activation

Mulugeta, S., Nguyen, V., Russo, S. J., Madesh, M., & Beers, M. F. (2005) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2005-0009oc · Cited by 255 · see citing works

The Idiopathic Pulmonary Fibrosis Honeycomb Cyst Contains A Mucocilary Pseudostratified Epithelium

Seibold, M. A., Smith, R. W., Urbanek, C., Groshong, S. D., Cosgrove, G. P., Brown, K. M., Schwarz, M. I., Schwartz, D. A., & Reynolds, S. D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0058658 · Cited by 251 · see citing works

Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland

Hodgson, U. (2002) · Thorax · doi:10.1136/thorax.57.4.338 · Cited by 250 · see citing works

Telomerase and idiopathic pulmonary fibrosis

Armanios, M. (2012) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2011.10.013 · Cited by 245 · see citing works

A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis

Mushiroda, T., Wattanapokayakit, S., Takahashi, A., Nukiwa, T., Kudoh, S., Ogura, T., Taniguchi, H., Kubo, M., Kamatani, N., & Nakamura, Y. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.057356 · Cited by 239 · see citing works

Emerging evidence for endoplasmic reticulum stress in the pathogenesis of idiopathic pulmonary fibrosis

Tanjore, H., Blackwell, T. S., & Lawson, W. E. (2012) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00410.2011 · Cited by 236 · see citing works

Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis

Stock, C. J. W., Sato, H., Fonseca, C., BANYA, W. A. S., Molyneaux, P. L., Adamali, H. I., Russell, A., Denton, C. P., Abraham, D., Hansell, D. M., et al. (2013) · Thorax · doi:10.1136/thoraxjnl-2012-201786 · Cited by 231 · see citing works

Alveolar Epithelial Cells Undergo Epithelial-to-Mesenchymal Transition in Response to Endoplasmic Reticulum Stress

Tanjore, H., Cheng, D., Degryse, A. L., Zoz, D. F., Abdolrasulnia, R., Lawson, W. E., & Blackwell, T. S. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.181164 · Cited by 231 · see citing works

Human iPS cell–derived alveolar epithelium repopulates lung extracellular matrix

Ghaedi, M., Calle, E. A., Mendez, J. J., Gard, A. L., Balestrini, J. L., Booth, A., Bove, P. F., Gui, L., White, E. S., & Niklason, L. E. (2013) · Journal of Clinical Investigation · doi:10.1172/jci68793 · Cited by 230 · see citing works

RTEL1 Is a Replisome-Associated Helicase That Promotes Telomere and Genome-Wide Replication

Vannier, J., Sandhu, S., Petalcorin, M. I. R., Wu, X., Nabi, Z., Ding, H., & Boulton, S. J. (2013) · Science · doi:10.1126/science.1241779 · Cited by 220 · see citing works

A Variant in the Promoter of MUC5B and Idiopathic Pulmonary Fibrosis

Zhang, Y., Noth, I., Garcia, J. G. N., & Kaminski, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmc1013504 · Cited by 214 · see citing works

Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia

Cogan, J. D., Kropski, J. A., Zhao, M., Mitchell, D. B., Rives, L. C., Markin, C. R., Garnett, E. T., Montgomery, K. H., Mason, W. R., McKean, D. F., et al. (2015) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201408-1510oc · Cited by 197 · see citing works

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

Silhan, L. L., Shah, P. D., Chambers, D. C., Snyder, L. D., Riise, G. C., Wagner, C. L., Hellström‐Lindberg, E., Orens, J. B., Mewton, J. F., Danoff, S. K., et al. (2014) · European Respiratory Journal · doi:10.1183/09031936.00060014 · Cited by 192 · see citing works

Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis

García-Sancho, C., Buendía-Roldán, I., Fernández-Plata, M. R., Navarro, C., Pérez‐Padilla, R., Vargas, M. H., Loyd, J. E., & Selman, M. (2011) · Respiratory Medicine · doi:10.1016/j.rmed.2011.08.022 · Cited by 190 · see citing works

Increased Risk of Fibrosing Alveolitis Associated with Interleukin-1 Receptor Antagonist and Tumor Necrosis Factor- α Gene Polymorphisms

WHYTE, M., HUBBARD, R., Melicòni, R., WHIDBORNE, M., Eaton, V., Bingle, C. D., Timms, J. M., Duff, G. W., FACCHINI, A., Pacilli, A. M. G., et al. (2000) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.162.2.9909053 · Cited by 188 · see citing works

The Toll-like Receptor 3 L412F Polymorphism and Disease Progression in Idiopathic Pulmonary Fibrosis

O’Dwyer, D. N., Armstrong, M. E., Trujillo, G., Cooke, G., Keane, M. P., Fallon, P. G., Simpson, A. J., Millar, A., McGrath, E. E., Whyte, M. K. B., et al. (2013) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201304-0760oc · Cited by 184 · see citing works

Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

Alder, J. K., Stanley, S. E., Wagner, C. L., Hamilton, M., Hanumanthu, V. S., & Armanios, M. Y. (2014) · CHEST Journal · doi:10.1378/chest.14-1947 · Cited by 181 · see citing works

The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

Borie, R., Crestani, B., Dieudé, P., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0070621 · Cited by 179 · see citing works

Extensive Phenotyping of Individuals at Risk for Familial Interstitial Pneumonia Reveals Clues to the Pathogenesis of Interstitial Lung Disease

Kropski, J. A., Pritchett, J. M., Zoz, D. F., Crossno, P. F., Markin, C. R., Garnett, E. T., Degryse, A. L., Mitchell, D. B., Polosukhin, V. V., Rickman, O. B., et al. (2014) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201406-1162oc · Cited by 178 · see citing works

Transforming Growth Factor-β1 Gene Polymorphisms Are Associated with Disease Progression in Idiopathic Pulmonary Fibrosis

Xaubet, A., Marín-Arguedas, A., Lario, S., et al. (2003) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200210-1165oc · Cited by 176 · see citing works

Expression of a Human Surfactant Protein C Mutation Associated with Interstitial Lung Disease Disrupts Lung Development in Transgenic Mice

Bridges, J. P., Wert, S. E., Nogee, L. M., et al. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m309599200 · Cited by 161 · see citing works

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

Kropski, J. A., Lawson, W. E., Young, L. R., & Blackwell, T. S. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.010736 · Cited by 154 · see citing works

Surfactant Protein A2 Mutations Associated with Pulmonary Fibrosis Lead to Protein Instability and Endoplasmic Reticulum Stress

Maitra, M., Wang, Y., Gerard, R. D., Mendelson, C. R., & Garcia, C. K. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.121467 · Cited by 152 · see citing works

A Novel Dyskerin (DKC1) Mutation Is Associated With Familial Interstitial Pneumonia

Kropski, J. A., Mitchell, D. B., Markin, C. R., Polosukhin, V. V., Choi, L., Johnson, J. E., Lawson, W. E., Phillips, J. A., Cogan, J. D., Blackwell, T. S., et al. (2014) · CHEST Journal · doi:10.1378/chest.13-2224 · Cited by 151 · see citing works

The MUC5B Promoter Polymorphism Is Associated With Idiopathic Pulmonary Fibrosis in a Mexican Cohort but Is Rare Among Asian Ancestries

Peljto, A. L., Selman, M., Kim, D. S., Murphy, E., Tucker, L., Pardo, A., Lee, J. S., Ji, W., Schwarz, M. I., Yang, I. V., et al. (2014) · CHEST Journal · doi:10.1378/chest.14-0867 · Cited by 135 · see citing works

RTEL1: functions of a disease-associated helicase

Vannier, J., Sarek, G., & Boulton, S. J. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.01.004 · Cited by 134 · see citing works

Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms

Mulugeta, S., Maguire, J. A., Newitt, J. L., et al. (2007) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00025.2007 · Cited by 132 · see citing works

Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative

Wang, W., Mulugeta, S., Russo, S. J., et al. (2003) · Journal of Cell Science · doi:10.1242/jcs.00267 · Cited by 131 · see citing works

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Chiò, A., Battistini, S., Calvo, A., Caponnetto, C., Conforti, F. L., Corbo, M., Giannini, F., Mandrioli, J., Mora, G., Sabatelli, M., et al. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2013-305546 · Cited by 123 · see citing works

ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis

Hodgson, U., Pulkkinen, V., Dixon, M., Peyrard‐Janvid, M., Rehn, M., Lahermo, P., Ollikainen, V., Salmenkivi, K., Kinnula, V. L., Kere, J., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/504639 · Cited by 122 · see citing works

RTEL1 contributes to DNA replication and repair and telomere maintenance

Uringa, E.-J., Lisaingo, K., Pickett, H. A., Brind’Amour, J., Rohde, J.-H., Zelensky, A. N., Essers, J., & Lansdorp, P. M. (2012) · Molecular Biology of the Cell · doi:10.1091/mbc.e12-03-0179 · Cited by 122 · see citing works

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

Futema, M., Plagnol, V., Li, K., Whittall, R., Neil, H. A. W., Seed, M., Bertolini, S., Calandra, S., Descamps, O. S., Graham, C. A., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102405 · Cited by 121 · see citing works

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

Campo, I., Zorzetto, M., Mariani, F., Kadija, Z., Morbini, P., Dore, R., Kaltenborn, E., Frixel, S., Zarbock, R., Liebisch, G., et al. (2014) · Respiratory Research · doi:10.1186/1465-9921-15-43 · Cited by 120 · see citing works

MUC 5 B promoter polymorphism in J apanese patients with idiopathic pulmonary fibrosis

Horimasu, Y., Ohshimo, S., Bonella, F., et al. (2015) · Respirology · doi:10.1111/resp.12466 · Cited by 119 · see citing works

Telomerase activity is required for bleomycin-induced pulmonary fibrosis in mice

Liu, T., Chung, M. J., Ullenbruch, M. R., Yu, H., Jin, H., Hu, B., Choi, Y. Y., Ishikawa, F., & Phan, S. H. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32369 · Cited by 105 · see citing works

Identification of Early Interstitial Lung Disease in an Individual With Genetic Variations in ABCA3 and SFTPC

Crossno, P. F., Polosukhin, V. V., Blackwell, T. S., et al. (2010) · CHEST Journal · doi:10.1378/chest.09-0790 · Cited by 102 · see citing works

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 ( DKC1 ) Gene

Alder, J. K., Parry, E. M., Yegnasubramanian, S., Wagner, C. L., Lieblich, L. M., Auerbach, R., Auerbach, A. D., Wheelan, S. J., & Armanios, M. Y. (2013) · Human Mutation · doi:10.1002/humu.22397 · Cited by 101 · see citing works

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features

Fernandez, B. A., Fox, G. A., Bhatia, R., Sala, E., Noble, B., Denic, N., Fernandez, D., Duguid, N., Dohey, A., Kamel, F., et al. (2012) · Respiratory Research · doi:10.1186/1465-9921-13-64 · Cited by 99 · see citing works

A non-BRICHOSSFTPCmutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy

Hawkins, A., Guttentag, S. H., Deterding, R. R., Funkhouser, W. K., Goralski, J. L., Chatterjee, S., Mulugeta, S., & Beers, M. F. (2014) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00217.2014 · Cited by 97 · see citing works

Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation

Cottin, V., Reix, P., Khouatra, C., Thivolet-Béjui, F., Feldmann, D., & Cordier, J. F. (2011) · Thorax · doi:10.1136/thx.2010.151407 · Cited by 94 · see citing works

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