Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive
Open accessAbstract
Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals. 115 patients with mutations in telomerase reverse transcriptase ( TERT ) (n=75), telomerase RNA component ( TERC ) (n=7), regulator of telomere elongation helicase 1 ( RTEL1 ) (n=14) and poly(A)-specific ribonuclease ( PARN ) (n=19) were identified and clinical data were analysed. Approximately one-half (46%) had a multidisciplinary diagnosis of idiopathic pulmonary fibrosis (IPF); others had unclassifiable lung fibrosis (20%), chronic hypersensitivity pneumonitis (12%), pleuroparenchymal fibroelastosis (10%), interstitial pneumonia with autoimmune features (7%), an idiopathic interstitial pneumonia (4%) and connective tissue disease-related interstitial fibrosis (3%). Discordant interstitial lung disease diagnoses were found in affected individuals from 80% of families. Patients with TERC mutations were diagnosed at an earlier age than those with PARN mutations (51±11 years versus 64±8 years; p=0.03) and had a higher incidence of haematological comorbidities. The mean rate of forced vital capacity decline was 300 mL·year −1 and the median time to death or transplant was 2.87 years. There was no significant difference in time to death or transplant for patients across gene mutation groups or for patients with a diagnosis of IPF versus a non-IPF diagnosis. Genetic mutations in telomere related genes lead to a variety of interstitial lung disease (ILD) diagnoses that are universally progressive.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Some studies have shown no notable effects of anti-fibrotic agents on wounds, anastomosis, or bleeding.
“some studies have shown no notable effects of anti-fibrotic agents on wounds, anastomosis, or bleeding [51-53].”
From Indications for Lung Transplantation and Patient Selection (2022) · cites this paper as [51]
The Discussion says the authors could not assess disease progression in patients taking FDA-approved medications; it does not report effects on wounds, anastomoses, or bleeding. Searches for anti-fibrotic agents and postoperative complications found no passage addressing those outcomes in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Raghu, G., Collard, H. R., Egan, J. J., Martinez, F. J., Behr, J., Brown, K. K., Colby, T. V., Cordier, J.-F., Flaherty, K. R., Lasky, J. A., et al. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.2009-040gl · Cited by 7,186 · see citing works
Self-citationTravis, W. D., Costabel, U., Hansell, D. M., King, T. E., Lynch, D. A., Nicholson, A. G., Ryerson, C. J., Ryu, J. H., Selman, M., Wells, A. U., et al. (2013) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201308-1483st · Cited by 4,320 · see citing works
Self-citationIdiopathic Pulmonary Fibrosis: Diagnosis and Treatment: International Consensus Statement
(2000) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.161.2.ats3-00 · Cited by 2,620 · see citing works
Clinical course and prediction of survival in idiopathic pulmonary fibrosis
Ley, B., Collard, H. R., & King, T. E. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201006-0894ci · Cited by 1,765 · see citing works
Self-citationCyclophosphamide versus placebo in scleroderma lung disease
Tashkin, D. P., Elashoff, R., Clements, P. J., Goldin, J., Roth, M. D., Furst, D. E., Arriola, E., Silver, R., Strange, C., Bolster, M., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa055120 · Cited by 1,677 · 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
Fischer, A., Antoniou, K. M., Brown, K. M., Cadranel, J. L., Corte, T. J., du Bois, R. M., Lee, J. S., Leslie, K. O., Lynch, D. A., Matteson, E. L., et al. (2015) · European Respiratory Journal · doi:10.1183/13993003.00150-2015 · Cited by 1,102 · see citing works
Self-citationPrognostic Significance of Histopathologic Subsets in Idiopathic Pulmonary Fibrosis
BJORAKER, J. A., RYU, J. H., EDWIN, M. K., MYERS, J. L., TAZELAAR, H. D., SCHROEDER, D. R., & OFFORD, K. P. (1998) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.157.1.9704130 · Cited by 1,039 · 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 · cited 2× · see citing works
“Sequencing the TERT, TERC, RTEL1 and PARN genes was performed as previously described [7, 11].”
BackgroundMethodSelf-citationShort 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
Changes in Clinical and Physiologic Variables Predict Survival in Idiopathic Pulmonary Fibrosis
Collard, H. R., King, T. E., Bartelson, B. B., Vourlekis, J. S., Schwarz, M. I., & Brown, K. K. (2003) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200211-1311oc · Cited by 764 · see citing works
Self-citationTelomere 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
Self-citationStuart, B. D., Choi, J., Zaidi, S., Xing, C., Holohan, B., Chen, R., Choi, M., Dharwadkar, P., Torres, F., Girod, C. E., et al. (2015) · Nature Genetics · doi:10.1038/ng.3278 · Cited by 469 · see citing works
Self-citationClinical 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
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
Self-citationZappala, C. J., Latsi, P. I., Nicholson, A. G., Colby, T. V., Cramer, D., Renzoni, E. A., Hansell, D. M., du Bois, R. M., & Wells, A. U. (2009) · European Respiratory Journal · doi:10.1183/09031936.00155108 · Cited by 371 · see citing works
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
Self-citationTelomerase 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
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
Ballew, B. J., Yeager, M., Jacobs, K. B., Giri, N., Boland, J. F., Burdett, L. A., Alter, B. P., & Savage, S. A. (2013) · Human Genetics · doi:10.1007/s00439-013-1265-8 · Cited by 235 · see citing works
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., & Dokal, I. S. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.02.001 · Cited by 229 · see citing works
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita
Tummala, H., Walne, A. J., Collopy, L. C., Cardoso, S. R., de la Fuente, J., Lawson, S., Powell, J., Cooper, N. S., Foster, A. C., Mohammed, S. N., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci78963 · Cited by 198 · 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
Telomerase mutations in smokers with severe emphysema
Stanley, S. E., Chen, J. J. L., Podlevsky, J. D., Alder, J. K., Hansel, N. N., Mathias, R. A., Qi, X., Rafaels, N. M., Wise, R. A., Silverman, E. K., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci78554 · Cited by 196 · see citing works
Parry, E. M., Alder, J. K., Qi, X., Chen, J. J.-L., & Armanios, M. (2011) · Blood · doi:10.1182/blood-2010-11-322149 · Cited by 194 · see citing works
Poly(A)-specific ribonuclease (PARN) mediates 3′-end maturation of the telomerase RNA component
Moon, D. H., Segal, M., Boyraz, B., Guinan, E. C., Hofmann, I., Cahan, P., Tai, A., & Agarwal, S. (2015) · Nature Genetics · doi:10.1038/ng.3423 · Cited by 183 · 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
Marrone, A., Walne, A. J., Tamary, H., Masunari, Y., Kirwan, M., Beswick, R. W., Vulliamy, T., & Dokal, I. S. (2007) · Blood · doi:10.1182/blood-2006-12-062851 · Cited by 176 · see citing works
Chung, J. H., Chawla, A., Peljto, A. L., Cool, C. D., Groshong, S. D., Talbert, J. L., McKean, D. F., Brown, K. M., Fingerlin, T. E., Schwarz, M. I., et al. (2014) · CHEST Journal · doi:10.1378/chest.14-0976 · Cited by 175 · see citing works
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Kannengiesser, C., Borie, R., Ménard, C., Réocreux, M., Nitschké, P., Gazal, S., Mal, H., Taillé, C., Cadranel, J. L., Nunès, H., et al. (2015) · European Respiratory Journal · doi:10.1183/09031936.00040115 · Cited by 162 · see citing works
Deng, Z., Glousker, G., Molczan, A., Fox, A. J., Lamm, N., Dheekollu, J., Weizman, O.-E., Schertzer, M. J., Wang, Z., Vladimirova, O. V., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1300600110 · Cited by 161 · 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
Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders
Gorgy, A. I., Jonassaint, N. L., Stanley, S. E., Koteish, A. A., Dezern, A. E., Walter, J. E., Sopha, S. C., Hamilton, J. P., Hoover-Fong, J. E., Chen, A. R., et al. (2015) · CHEST Journal · doi:10.1378/chest.15-0825 · Cited by 129 · see citing works
Clinical outcomes of lung transplant recipients with telomerase mutations
Tokman, S., Singer, J. P., Devine, M., Westall, G. P., Aubert, J., Tamm, M., Snell, G. I., Lee, J. S., Goldberg, H. J., Kukreja, J., et al. (2015) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2015.05.002 · Cited by 107 · see citing works
Self-citationThe gastrointestinal manifestations of telomere‐mediated disease
Jonassaint, N. L., Guo, N., Califano, J. A., Montgomery, E. A., & Armanios, M. Y. (2012) · Aging Cell · doi:10.1111/acel.12041 · Cited by 105 · see citing works
Dhanraj, S., Gunja, S. M. R., Deveau, A. P., Nissbeck, M., Boonyawat, B., Coombs, A. J., Renieri, A., Mucciolo, M., Marozza, A., Buoni, S., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103292 · Cited by 96 · see citing works
Association between telomere length and survival in patients with idiopathic pulmonary fibrosis
Dai, J., Cai, H., Li, H., Zhuang, Y., Min, H., Wen, Y., Yang, J., Gao, Q., Shi, Y. P., & Yi, L. (2015) · Respirology · doi:10.1111/resp.12566 · Cited by 93 · see citing works
George, G., Rosas, I. O., Cui, Y., McKane, C. K., Hunninghake, G. M., Camp, P. C., Raby, B. A., Goldberg, H. J., & El‐Chemaly, S. (2014) · CHEST Journal · doi:10.1378/chest.14-0631 · Cited by 49 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Diagnosis of Idiopathic Pulmonary Fibrosis. An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline
Raghu, G., Remy-Jardin, M., Myers, J. L., Richeldi, L., Ryerson, C. J., Lederer, D. J., Behr, J., Cottin, V., Danoff, S. K., Morell, F., et al. (2018) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201807-1255st · Cited by 4,103 · see citing works
Self-citationRaghu, G., Rémy‐Jardin, M., Ryerson, C. J., Myers, J. L., Kreuter, M., Vašáková, M., Bargagli, E., Chung, J. H., Collins, B. F., Bendstrup, E. M., et al. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202005-2032st · Cited by 1,060 · see citing works
Self-citationLeard, L. E., Holm, A. M., Valapour, M., Glanville, A. R., Attawar, S., Aversa, M., Campos, S. V., Christon, L. M., Cypel, M., Dellgren, G., et al. (2021) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2021.07.005 · Cited by 821 · see citing works
Idiopathic pulmonary fibrosis: Disease mechanisms and drug development
Spagnolo, P., Kropski, J. A., Jones, M. G., Lee, J. S., Rossi, G., Karampitsakos, Τ., Maher, T. M., Tzouvelekis, A., & Ryerson, C. J. (2020) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2020.107798 · Cited by 638 · see citing works
Determinants of telomere length across human tissues
Demanelis, K., Jasmine, F., Chen, L. S., Chernoff, M., Tong, L., Delgado, D., Zhang, C., Shinkle, J., Sabarinathan, M., Lin, H., et al. (2020) · Science · doi:10.1126/science.aaz6876 · Cited by 515 · see citing works
Idiopathic Pulmonary Fibrosis (IPF): An Overview
Barratt, S. L., Creamer, A. W., Hayton, C., & Chaudhuri, N. (2018) · Journal of Clinical Medicine · doi:10.3390/jcm7080201 · Cited by 390 · see citing works
George, P. M., Spagnolo, P., Kreuter, M., Altinisik, G., Bonifazi, M., Martinez, F. J., Molyneaux, P. L., Renzoni, E. A., Richeldi, L., Tomassetti, S., et al. (2020) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(20)30355-6 · Cited by 349 · see citing works
Ley, B., Newton, C. A., Arnould, I. S., Elicker, B. M., Henry, T. S., Vittinghoff, E., Golden, J. A., Jones, K. D., Batra, K., Torrealba, J. R., et al. (2017) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(17)30216-3 · Cited by 298 · see citing works
Self-citationContributions of alveolar epithelial cell quality control to pulmonary fibrosis
Katzen, J. B., & Beers, M. F. (2020) · Journal of Clinical Investigation · doi:10.1172/jci139519 · Cited by 289 · see citing works
Genetics of human telomere biology disorders
Revy, P., Kannengiesser, C., & Bertuch, A. A. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00527-z · Cited by 242 · see citing works
Pulmonary fibrosis, part I: epidemiology, pathogenesis, and diagnosis
Meyer, K. C. (2017) · Expert Review of Respiratory Medicine · doi:10.1080/17476348.2017.1312346 · Cited by 226 · see citing works
Self-citationCottin, V., Selman, M., Inoue, Y., Wong, A. W., Corte, T. J., Flaherty, K. R., Han, M. K., Jacob, J., Johannson, K. A., Kitaichi, M., et al. (2022) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202206-1041st · Cited by 231 · see citing works
Whole-Exome Sequencing in Adults With Chronic Kidney Disease
Lata, S., Marasà, M., Li, Y., Fasel, D. A., Groopman, E., Jobanputra, V., Rasouly, H. M., Mitrotti, A., Westland, R., Verbitsky, M., et al. (2018) · Annals of Internal Medicine · doi:10.7326/m17-1319 · Cited by 204 · see citing works
Self-citationDressen, A., Abbas, A. R., Cabanski, C. R., Reeder, J., Ramalingam, T. R., Neighbors, M., Bhangale, T., Brauer, M. J., Hunkapiller, J., Reeder, J., et al. (2018) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(18)30135-8 · Cited by 193 · see citing works
Self-citationLuppi, F., Kalluri, M., Faverio, P., Kreuter, M., & Ferrara, G. (2021) · Respiratory Research · doi:10.1186/s12931-021-01711-1 · Cited by 203 · see citing works
Chua, F., Desai, S. R., Nicholson, A. G., Devaraj, A., Renzoni, E. A., Rice, A. J., & Wells, A. U. (2019) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201902-181cme · Cited by 179 · see citing works
Niewisch, M. R., & Savage, S. A. (2019) · Expert Review of Hematology · doi:10.1080/17474086.2019.1662720 · Cited by 179 · see citing works
Telomere Length and Use of Immunosuppressive Medications in Idiopathic Pulmonary Fibrosis
Newton, C. A., Zhang, D., Oldham, J. M., Kozlitina, J., Ma, S., Martínez, F. J., Raghu, G., Noth, I., & Garcia, C. K. (2018) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201809-1646oc · Cited by 177 · see citing works
Self-citationNewton, C. A., Oldham, J. M., Ley, B., Anand, V. C., Adegunsoye, A., Liu, G. Y., Batra, K., Torrealba, J. R., Kozlitina, J., Glazer, C. S., et al. (2019) · European Respiratory Journal · doi:10.1183/13993003.01641-2018 · Cited by 173 · see citing works
Self-citationHypersensitivity Pneumonitis: Current Concepts of Pathogenesis and Potential Targets for Treatment
Vašáková, M., Selman, M., Morell, F., Šterclová, M., Molina‐Molina, M., & Raghu, G. (2019) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201903-0541pp · Cited by 160 · see citing works
Self-citationCostabel, U., Miyazaki, Y., Pardo, A., Koschel, D., Bonella, F., Spagnolo, P., Guzman, J., Ryerson, C. J., & Selman, M. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0191-z · Cited by 161 · see citing works
Precision medicine advances in idiopathic pulmonary fibrosis
Karampitsakos, Τ., Juan-Guardela, B. M., Τzouvelekis, Α., & Herazo‐Maya, J. D. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104766 · Cited by 147 · see citing works
Diagnosis, course and management of hypersensitivity pneumonitis
Hamblin, M., Prosch, H., & Vašáková, M. (2022) · European Respiratory Review · doi:10.1183/16000617.0169-2021 · Cited by 137 · see citing works
Antifibrotic therapy for fibrotic lung disease beyond idiopathic pulmonary fibrosis
Collins, B. F., & Raghu, G. (2019) · European Respiratory Review · doi:10.1183/16000617.0022-2019 · Cited by 132 · see citing works
Self-citationNewton, C. A., Kozlitina, J., Lines, J. R., Kaza, V., Torres, F., & Garcia, C. K. (2017) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2017.02.005 · Cited by 132 · see citing works
Self-citationTelomere-mediated lung disease
Alder, J. K., & Armanios, M. Y. (2022) · Physiological Reviews · doi:10.1152/physrev.00046.2021 · Cited by 126 · see citing works
Shao, T., Shi, X., Yang, S., Zhang, W., Li, X., Shu, J., Alqalyoobi, S., Zeki, A. A., Leung, P. S. C., & Shuai, Z. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.684699 · Cited by 128 · see citing works
European Respiratory Society statement on familial pulmonary fibrosis
Borie, R., Kannengiesser, C., Antoniou, K. M., Bonella, F., Crestani, B., Fabre, A., Froidure, A., Galvin, L., Griese, M., Grutters, J. C., et al. (2022) · European Respiratory Journal · doi:10.1183/13993003.01383-2022 · Cited by 130 · see citing works
Ley, B., Torgerson, D. G., Oldham, J. M., Adegunsoye, A., Liu, S., Li, J., Elicker, B. M., Henry, T. S., Golden, J. A., Jones, K. D., et al. (2019) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201902-0360oc · Cited by 124 · see citing works
Podolanczuk, A. J., Hunninghake, G. M., Wilson, K. C., Khor, Y. H., Kheir, F. M., Pang, B., Adegunsoye, A., Cararie, G., Corte, T. J., FLANAGAN, J., et al. (2025) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202505-1054st · Cited by 120 · see citing works
Furini, F., Carnevale, A., Casoni, G. L., Guerrini, G., Cavagna, L., Govoni, M., & Scirè, C. A. (2019) · Frontiers in Medicine · doi:10.3389/fmed.2019.00246 · Cited by 95 · see citing works
Interstitial Lung Diseases in Developing Countries
Rivera‐Ortega, P., & Molina‐Molina, M. (2019) · Annals of Global Health · doi:10.5334/aogh.2414 · Cited by 93 · see citing works
Lung transplantation for interstitial lung disease
Kapnadak, S. G., & Raghu, G. (2021) · European Respiratory Review · doi:10.1183/16000617.0017-2021 · Cited by 94 · see citing works
Self-citationSelman, M., & Pardo, A. (2021) · European Respiratory Journal · doi:10.1183/13993003.04507-2020 · Cited by 88 · see citing works
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations
Maryoung, L. A., Yue, Y., Young, A. M., Newton, C. A., Barba, C., van Oers, N. S. C., Wang, R. C., & Garcia, C. K. (2017) · Journal of Clinical Investigation · doi:10.1172/jci91161 · Cited by 84 · see citing works
Self-citationTelomeres in Interstitial Lung Disease: The Short and the Long of It
Courtwright, A., & El‐Chemaly, S. (2018) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201808-508cme · Cited by 86 · see citing works
Lung Transplant Outcomes in Patients With Pulmonary Fibrosis With Telomere-Related Gene Variants
Swaminathan, A. C., Neely, M. L., Frankel, C. W., Kelly, F. L., Petrovski, S., Durheim, M. T., Bush, E., Snyder, L. D., Goldstein, D. B., Todd, J. L., et al. (2019) · CHEST Journal · doi:10.1016/j.chest.2019.03.030 · Cited by 82 · see citing works
Management of suspected monogenic lung fibrosis in a specialised centre
Borie, R., Kannengiesser, C., de Fontbrune, F. S., Gouya, L., Nathan, N., & Crestani, B. (2017) · European Respiratory Review · doi:10.1183/16000617.0122-2016 · Cited by 81 · see citing works
Pulmonary fibrosis in the era of stratified medicine
Mathai, S. K., Newton, C. A., Schwartz, D. A., & Garcia, C. K. (2016) · Thorax · doi:10.1136/thoraxjnl-2016-209172 · Cited by 77 · see citing works
Self-citationBowman, W. S., Echt, G., & Oldham, J. M. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.680997 · Cited by 76 · see citing works
Ma, H., Wu, X., Li, Y., & Xia, Y. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.963054 · Cited by 78 · see citing works
Justet, A., Klay, D., Porcher, R., Cottin, V., Ahmad, K., Molina‐Molina, M., Nunès, H., Reynaud‐Gaubert, M., Naccache, J. M., Manali, E. D., et al. (2020) · European Respiratory Journal · doi:10.1183/13993003.03198-2020 · Cited by 76 · see citing works
Genetic disorders of the surfactant system: focus on adult disease
van Moorsel, C. H. M., van der Vis, J. J., & Grutters, J. C. (2021) · European Respiratory Review · doi:10.1183/16000617.0085-2020 · Cited by 71 · see citing works
Adegunsoye, A., Kropski, J. A., Behr, J., Blackwell, T. S., Corte, T. J., Cottin, V., Glanville, A. R., Glassberg, M. K., Griese, M., Hunninghake, G. M., et al. (2024) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202401-0238so · Cited by 76 · see citing works
Usual interstitial pneumonia as a stand-alone diagnostic entity: the case for a paradigm shift?
Selman, M., Pardo, A., & Wells, A. U. (2023) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(22)00475-1 · Cited by 70 · see citing works
Role of pirfenidone in the management of pulmonary fibrosis
Meyer, K. C., & Decker, C. (2017) · Therapeutics and Clinical Risk Management · doi:10.2147/tcrm.s81141 · Cited by 70 · see citing works
Self-citationIntegrating Genomics Into Management of Fibrotic Interstitial Lung Disease
Adegunsoye, A., Vij, R., & Noth, I. (2019) · CHEST Journal · doi:10.1016/j.chest.2018.12.011 · Cited by 71 · see citing works
Renzoni, E. A., Poletti, V. E., & Mackintosh, J. A. (2021) · The Lancet · doi:10.1016/s0140-6736(21)01961-9 · Cited by 67 · see citing works
Pulmonary phenotypes associated with genetic variation in telomere-related genes
Hoffman, T. W., van Moorsel, C. H. M., Borie, R., & Crestani, B. (2018) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000475 · Cited by 67 · see citing works
Borie, R., Bouvry, D., Cottin, V., Gauvain, C., Cazes, A., Debray, M., Cadranel, J. L., Dieudé, P., Dégot, T., Dominique, S., et al. (2018) · European Respiratory Journal · doi:10.1183/13993003.00508-2018 · Cited by 69 · see citing works
The genetics of interstitial lung diseases
Borie, R., Guen, P. L., Ghanem, M., Taillé, C., Dupin, C., Dieudé, P., Kannengiesser, C., & Crestani, B. (2019) · European Respiratory Review · doi:10.1183/16000617.0053-2019 · Cited by 69 · see citing works
Cellular Senescence in Idiopathic Pulmonary Fibrosis
Kellogg, D. L., Kellogg, D. L., Musi, N., & Nambiar, A. M. (2021) · Current Molecular Biology Reports · doi:10.1007/s40610-021-00145-4 · Cited by 67 · see citing works
Cutting, C. C., Bowman, W. S., Đao, N. H., Pugashetti, J. V., Garcia, C. K., Oldham, J. M., & Newton, C. A. (2021) · CHEST Journal · doi:10.1016/j.chest.2021.01.026 · Cited by 64 · see citing works
Self-citationCottin, V., Crestani, B., Cadranel, J. L., Cordier, J. F., Marchand-Adam, S., Prévot, G., Wallaert, B., Bergot, E., Camus, P., Dalphin, J., et al. (2017) · Revue des Maladies Respiratoires · doi:10.1016/j.rmr.2017.07.017 · Cited by 63 · see citing works
Sex and gender in interstitial lung diseases
Kawano-Dourado, L. B., Glassberg, M. K., Assayag, D., Borie, R., & Johannson, K. A. (2021) · European Respiratory Review · doi:10.1183/16000617.0105-2021 · Cited by 63 · see citing works
Adegunsoye, A., Newton, C. A., Oldham, J. M., Ley, B., Lee, C. T., Linderholm, A., Chung, J. H., Garcia, N. M., Zhang, D., Vij, R., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-37193-6 · Cited by 61 · see citing works
Self-citationIdiopathische Lungenfibrose – Epidemiologie, Ursachen und klinischer Verlauf
Schäfer, S. C., Funke-Chambour, M., & Berezowska, S. (2020) · Der Pathologe · doi:10.1007/s00292-019-00747-x · Cited by 58 · see citing works
The Role of Genetic Testing in Pulmonary Fibrosis
Newton, C. A., Oldham, J. M., Applegate, C. D., Carmichael, N. E., Powell, K. P., Dilling, D. F., Schmidt, S. L., Scholand, M. B., Armanios, M. Y., Garcia, C. K., et al. (2022) · CHEST Journal · doi:10.1016/j.chest.2022.03.023 · Cited by 60 · see citing works
Self-citationZhang, D., & Newton, C. A. (2021) · CHEST Journal · doi:10.1016/j.chest.2021.06.037 · Cited by 59 · see citing works
Self-citationAlder, J. K., Sutton, R. M., Iasella, C. J., Nouraie, M. S., Koshy, R., Hannan, S. J., Chan, E. G., Chen, X., Zhang, Y., Brown, M. J., et al. (2021) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2021.11.008 · Cited by 57 · see citing works
Mackintosh, J. A., Keir, G. J., Troy, L. K., Holland, A. E., Grainge, C., Chambers, D. C., Sandford, D., Jo, H. E., Glaspole, I., WILSHER, M. L., et al. (2024) · Respirology · doi:10.1111/resp.14656 · Cited by 53 · see citing works
Jo, H. E., Troy, L. K., Keir, G. J., Chambers, D. C., Holland, A. E., Goh, N. S. L., WILSHER, M. L., de Boer, S., Moodley, Y. P., Grainge, C., et al. (2017) · Respirology · doi:10.1111/resp.13146 · Cited by 55 · see citing works
Predictive factors and prognostic effect of telomere shortening in pulmonary fibrosis
Planas‐Cerezales, L., Arias‐Salgado, E. G., Buendía-Roldán, I., Montes‐Worboys, A., Esquinas, C., Vicens‐Zygmunt, V., Hernáiz, P. L., Sanuy, R. L., Leiro‐Fernández, V., Balcells, E., et al. (2018) · Respirology · doi:10.1111/resp.13423 · Cited by 54 · see citing works
Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF)
Krauss, E., Gehrken, G. V., Drakopanagiotakis, F., Tello, S., Dartsch, R. C., Maurer, O., Windhorst, A., von der Beck, D., Griese, M., Seeger, W., et al. (2019) · BMC Pulmonary Medicine · doi:10.1186/s12890-019-0895-6 · Cited by 55 · see citing works
Tirelli, C., Pesenti, C., Miozzo, M. R., Mondoni, M., Fontana, L., & Centanni, S. (2022) · Diagnostics · doi:10.3390/diagnostics12123107 · Cited by 53 · see citing works
Clinical and Molecular Heterogeneity of RTEL1 Deficiency
Speckmann, C., Sahoo, S. S., Rizzi, M., Hirabayashi, S., Karow, A., Serwas, N. K., Hoemberg, M., Damatova, N., Schindler, D., Vannier, J., et al. (2017) · Frontiers in Immunology · doi:10.3389/fimmu.2017.00449 · Cited by 53 · see citing works
RTEL1 influences the abundance and localization of TERRA RNA
Ghisays, F., Garzia, A., Wang, H., Canasto‐Chibuque, C., Hohl, M., Savage, S. A., Tuschl, T., & Petrini, J. H. J. (2021) · Nature Communications · doi:10.1038/s41467-021-23299-2 · Cited by 53 · see citing works
Feurstein, S. K., Adegunsoye, A., Mojsilovic, D., Vij, R., DePersia, A., Rajagopal, P. S., Osman, A. E. G., Collins, R. H., Kim, R. H., Gore, S. D., et al. (2020) · Blood Advances · doi:10.1182/bloodadvances.2020001721 · Cited by 52 · see citing works
The clinical and functional effects of TERT variants in myelodysplastic syndrome
Reilly, C. R., Myllymäki, M., Redd, R. A., Padmanaban, S., Karunakaran, D., Tesmer, V. M., Tsai, F. D., Gibson, C. J., Rana, H. Q., Zhong, L., et al. (2021) · Blood · doi:10.1182/blood.2021011075 · Cited by 50 · see citing works
Translational research in pulmonary fibrosis
Mathai, S. K., & Schwartz, D. A. (2019) · Translational research · doi:10.1016/j.trsl.2019.02.001 · Cited by 48 · see citing works
Zhang, D., Newton, C. A., Wang, B., Povysil, G., Noth, I., Martínez, F. J., Raghu, G., Goldstein, D. B., & Garcia, C. K. (2022) · European Respiratory Journal · doi:10.1183/13993003.00577-2022 · Cited by 47 · see citing works
Self-citationEpigenetics as a versatile regulator of fibrosis
Liu, Y., Wen, D., Ho, C., Li, Y., Zheng, D., O’Reilly, S., Gao, Y., Li, Q., & Zhang, Y. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-04018-5 · Cited by 48 · see citing works
Legendre, M., Butt, A., Borie, R., Debray, M., Bouvry, D., Filhol-Blin, E., Desroziers, T., Nau, V., Copin, B., Moal, F., et al. (2020) · European Respiratory Journal · doi:10.1183/13993003.02806-2020 · Cited by 47 · see citing works
Arish, N., Petukhov, D., & Wallach‐Dayan, S. B. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20122996 · Cited by 45 · see citing works
Telomere Shortening and Its Association with Cell Dysfunction in Lung Diseases
Ruíz, A., Flores‐González, J., Buendía-Roldán, I., & Chávez‐Galán, L. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms23010425 · Cited by 46 · see citing works
Clinical manifestations of telomere biology disorders in adults
Niewisch, M. R., Beier, F., & Savage, S. A. (2023) · Hematology · doi:10.1182/hematology.2023000490 · Cited by 42 · see citing works
Telomeres in Interstitial Lung Disease
Stock, C. J. W., & Renzoni, E. A. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10071384 · Cited by 43 · see citing works
Diesler, R., & Cottin, V. (2022) · Expert Review of Respiratory Medicine · doi:10.1080/17476348.2022.2089116 · Cited by 42 · see citing works
Real-life prevalence of progressive fibrosing interstitial lung diseases
Gagliardi, M., Berg, D. V., Heylen, C. E., Koenig, S., Hoton, D., Tamirou, F., Pieters, T., Ghaye, B., & Froidure, A. (2021) · Scientific Reports · doi:10.1038/s41598-021-03481-8 · Cited by 40 · see citing works
Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations
Nunès, H., Jeny, F., Bouvry, D., Picard, C., Bernaudin, J., Ménard, C., Brillet, P., Kannengiesser, C., Valeyre, D., & Kambouchner, M. (2017) · European Respiratory Journal · doi:10.1183/13993003.02022-2016 · Cited by 40 · see citing works
Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation
Justet, A., Thabut, G., Manali, E. D., Molina‐Molina, M., Kannengiesser, C., Cadranel, J. L., Cottin, V., Gondouin, A., Nunès, H., Magois, E., et al. (2018) · European Respiratory Journal · doi:10.1183/13993003.01875-2017 · Cited by 39 · see citing works
Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis
Bilgili, H., Białas, A. J., Górski, P., & Piotrowski, W. J. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8081232 · Cited by 38 · see citing works
Insights from human genetic studies of lung and organ fibrosis
Garcia, C. K. (2018) · Journal of Clinical Investigation · doi:10.1172/jci93556 · Cited by 37 · see citing works
Self-citationExisting and emerging biomarkers for disease progression in idiopathic pulmonary fibrosis
Inchingolo, R., Varone, F., Sgalla, G., & Richeldi, L. (2018) · Expert Review of Respiratory Medicine · doi:10.1080/17476348.2019.1553620 · Cited by 37 · see citing works
Mattoo, H., & Pillai, S. S. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03874-y · Cited by 37 · see citing works
Pleuroparenchymal fibroelastosis
Cottin, V., Si-Mohamed, S. A., Diesler, R., Bonniaud, P., & Valenzuela, C. (2022) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000907 · Cited by 37 · see citing works
Suzuki, A., Ando, M., Kimura, T., Kataoka, K., Yokoyama, T., Shiroshita, E., & Kondoh, Y. (2020) · BMC Pulmonary Medicine · doi:10.1186/s12890-020-1093-2 · Cited by 36 · see citing works
Humbert, M. J. C., & Wagner, T. O. F. (2017) · European Respiratory Journal · doi:10.1183/13993003.00085-2017 · Cited by 35 · see citing works
Clinical implications of telomere dysfunction in lung fibrosis
Molina‐Molina, M., & Borie, R. (2018) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000506 · Cited by 36 · see citing works
Potential Therapeutic Targets of Resveratrol in the Prevention and Treatment of Pulmonary Fibrosis
Ramli, I., Cheriet, T., Posadino, A. M., Giordo, R., Zayed, H., Eid, A. H., & Pintus, G. (2023) · Frontiers in Bioscience-Landmark · doi:10.31083/j.fbl2809198 · Cited by 34 · see citing works
Idiopathic and immune‐related pulmonary fibrosis: diagnostic and therapeutic challenges
McLean‐Tooke, A. P., Moore, I., & Lake, F. (2019) · Clinical & Translational Immunology · doi:10.1002/cti2.1086 · Cited by 34 · see citing works
Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
Alonso-González, A., Tosco-Herrera, E., Molina‐Molina, M., & Flores, C. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1152211 · Cited by 33 · see citing works
The many faces of the helicase RTEL1 at telomeres and beyond
Hourvitz, N., Awad, A., & Tzfati, Y. (2023) · Trends in Cell Biology · doi:10.1016/j.tcb.2023.07.002 · Cited by 34 · see citing works
Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes
Mangaonkar, A. A., Ferrer, A., Vairo, F. P. E., Cousin, M. A., Kuisle, R. J., Klee, E. W., Kennedy, C. C., Peters, S. G., Scott, J. P., Utz, J. P., et al. (2018) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2018.05.015 · Cited by 32 · see citing works
Dodson, L. M., Baldan, A., Nissbeck, M., Gunja, S. M. R., Bonnen, P. E., Aubert, G., Birchansky, S. B., Virtanen, A., & Bertuch, A. A. (2019) · Human Mutation · doi:10.1002/humu.23898 · Cited by 32 · see citing works
Update in Interstitial Lung Disease 2019
Montesi, S. B., Fisher, J. H., Martínez, F. J., Selman, M., Pardo, A., & Johannson, K. A. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202002-0360up · Cited by 31 · see citing works
Phillips-Houlbracq, M., Mal, H., Cottin, V., Gauvain, C., Beier, F., de Fontbrune, F. S., Sidali, S., Mornex, J., Hirschi, S., Roux, A., et al. (2021) · American Journal of Transplantation · doi:10.1111/ajt.16893 · Cited by 31 · see citing works
The Dawn of Precision Medicine in Fibrotic Interstitial Lung Disease
Karampitsakos, Τ., Tourki, B., & Herazo‐Maya, J. D. (2024) · CHEST Journal · doi:10.1016/j.chest.2024.10.042 · Cited by 31 · see citing works
Pathology, Radiology, and Genetics of Interstitial Lung Disease in Patients With Shortened Telomeres
Cecchini, M. J., Tarmey, T., Ferreira, A. J., Mangaonkar, A. A., Ferrer, A., Patnaik, M. M., Wylam, M. E., Jenkins, S. M., Spears, G. M., Yi, E. S., et al. (2021) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000001725 · Cited by 30 · see citing works
Cottin, V., Tomassetti, S., Valenzuela, C., Walsh, S. L. F., Antoniou, K. M., Bonella, F., Brown, K. K., Collard, H. R., Corte, T. J., Flaherty, K. R., et al. (2022) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202111-2607pp · Cited by 31 · see citing works
Self-citation
- Authors
- Newton, C. A., Batra, K., Torrealba, J., Kozlitina, J., Glazer, C. S., Aravena, C., Meyer, K., Raghu, G., Collard, H. R., & Garcia, C. K.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- University of California, San Francisco (US)
- University of Wisconsin–Madison (US)
- University of Washington (US)
- ORCID
- Venue
- European Respiratory Journal
- Publisher
- European Respiratory Society (ERS)
- Published
- 2016-08-18
- Volume
- 48
- Issue
- 6
- Pages
- 1710-1720
- ISSN
- 0903-1936 (ISSN-L)
- 1399-3003
- PMC
- PMC5433348
- OpenAlex
- W2507219139
- Cited by
- 400
- References
- 37
- Citations by year
- 2026: 40 · 2025: 43 · 2024: 41 · 2023: 41 · 2022: 56 · 2021: 51 · 2020: 37 · 2019: 30 · 2018: 30 · 2017: 27 · 2016: 2
- FWCI
- 26.54
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- European Respiratory Journal (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (5T32HL098040, R01HL093096, UL1TR001105)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Keywords
- pulmonary fibrosis, TERT mutation, TERC mutations, idiopathic pulmonary fibrosis, interstitial lung disease, disease progression, forced vital capacity decline, pleuroparenchymal fibroelastosis, chronic hypersensitivity pneumonitis, genetic heterogeneity
- MeSH terms
- Aged, DNA Helicases, Exoribonucleases, Female, Humans, Male, Middle Aged, Mutation, RNA, Texas, Tomography, X-Ray Computed, Linear Models, Lung Transplantation, Telomere, Telomerase, Idiopathic Pulmonary Fibrosis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
