Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Open accessAbstract
Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of familial kindreds with pulmonary fibrosis. Gene burden analysis comparing 78 European cases and 2,816 controls implicated PARN, an exoribonuclease with no previous connection to telomere biology or disease, with five new heterozygous damaging mutations in unrelated cases and none in controls (P = 1.3 × 10(-8)); mutations were shared by all affected relatives (odds in favor of linkage = 4,096:1). RTEL1, an established locus for dyskeratosis congenita, harbored significantly more new damaging and missense variants at conserved residues in cases than in controls (P = 1.6 × 10(-6)). PARN and RTEL1 mutation carriers had shortened leukocyte telomere lengths, and we observed epigenetic inheritance of short telomeres in family members. Together, these genes explain ~7% of familial pulmonary fibrosis and strengthen the link between lung fibrosis and telomere dysfunction.
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?
Causality of telomere dysfunction in familial and sporadic IPF is indicated by germline mutations in genes involved in telomere maintenance.
“Causality of telomere dysfunction in familial and sporadic IPF is indicated by the detection of germline mutations in genes involved in telomere maintenance57,58.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [58]
The Abstract (page unavailable) reports inherited PARN and RTEL1 mutations in familial pulmonary fibrosis, shortened telomeres in mutation carriers, and a strengthened link between fibrosis and telomere dysfunction. It separately notes short telomeres in sporadic IPF, but does not show that germline mutations establish telomere dysfunction as causal in sporadic IPF. (LLM, conf=0.87)
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
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438 · see citing works
Travis, 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
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works
Self-citationDe Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · 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
Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics · doi:10.1038/ng0598-32 · Cited by 976 · see citing works
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934 · see citing works
Self-citationA 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
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Petrovski, S., Wang, Q., Heinzen, E. L., Allen, A. S., & Goldstein, D. B. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003709 · Cited by 901 · 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 7× · see citing works
“These were also similar to the telomere length measurements of TERT and TERC mutation carriers22.”
MethodInfluentialSelf-citationGenome-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
Self-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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works
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
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
Self-citationGenetic 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
Self-citationRTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity
Vannier, J., Pavicic-Kaltenbrunner, V., Petalcorin, M. I. R., Ding, H., & Boulton, S. J. (2012) · Cell · doi:10.1016/j.cell.2012.03.030 · Cited by 462 · 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
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-citationA Fast, Powerful Method for Detecting Identity by Descent
Browning, B. L., & Browning, S. R. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.01.010 · Cited by 365 · see citing works
Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A., & Dokal, I. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0800042105 · Cited by 334 · see citing works
Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F.-H., Aljurf, M., & Dokal, I. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm111 · Cited by 316 · 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-citationKörner, C. G., Wormington, M., Muckenthaler, M. U., Schneider, S., Dehlin, E., & Wahle, E. (1998) · The EMBO Journal · doi:10.1093/emboj/17.18.5427 · Cited by 242 · 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
Adult familial cryptogenic fibrosing alveolitis in the United Kingdom
Marshall, R. P. (2000) · Thorax · doi:10.1136/thorax.55.2.143 · Cited by 226 · 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
Guen, T. L., Jullien, L., Touzot, F., Schertzer, M. J., Gaillard, L., Perderiset, M., Carpentier, W., Nitschké, P., Pïcard, C., Couillault, G., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt178 · Cited by 191 · see citing works
Cap‐dependent deadenylation of mRNA
Dehlin, E., Wormington, M., Körner, C. G., & Wahle, E. (2000) · The EMBO Journal · doi:10.1093/emboj/19.5.1079 · Cited by 188 · see citing works
Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming
Berndt, H., Harnisch, C., Rammelt, C., Stöhr, N., Zirkel, A., Dohm, J. C., Himmelbauer, H., Tavanez, J. P., Hüttelmaier, S., & Wahle, E. (2012) · RNA · doi:10.1261/rna.032292.112 · Cited by 166 · see citing works
Poly(A)-Specific Ribonuclease Mediates 3′-End Trimming of Argonaute2-Cleaved Precursor MicroRNAs
Yoda, M., Cifuentes, D., Izumi, N., Sakaguchi, Y., Suzuki, T., Giráldez, A. J., & Tomari, Y. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.09.029 · Cited by 165 · 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
Ballew, B. J., Vijai, J., De, S., Sarek, G., Vannier, J., Stracker, T. H., Schrader, K. A., Small, T. N., O'Reilly, R., Manschreck, C., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003695 · Cited by 145 · see citing works
A General Conditional-Logistic Model for Affected-Relative-Pair Linkage Studies
Olson, J. M. (1999) · The American Journal of Human Genetics · doi:10.1086/302662 · Cited by 144 · see citing works
Analysis of Telomeres and Telomerase
Herbert, B., Shay, J. W., & Wright, W. E. (2003) · Current Protocols in Cell Biology · doi:10.1002/0471143030.cb1806s20 · Cited by 66 · see citing works
Self-citationDecreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
Parry, E. M., Alder, J. K., Lee, S. S., Phillips, J. A., Loyd, J. E., Duggal, P., & Armanios, M. Y. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.085100 · Cited by 66 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Richeldi, L., Collard, H. R., & Jones, M. G. (2017) · The Lancet · doi:10.1016/s0140-6736(17)30866-8 · Cited by 2,020 · see citing works
Telomere dysfunction in ageing and age-related diseases
Rossiello, F., Jurk, D., Passos, J. F., & d’Adda di Fagagna, F. (2022) · Nature Cell Biology · doi:10.1038/s41556-022-00842-x · Cited by 754 · 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
Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive
Newton, C. A., Batra, K., Torrealba, J., Kozlitina, J., Glazer, C. S., Aravena, C., Meyer, K., Raghu, G., Collard, H. R., & Garcia, C. K. (2016) · European Respiratory Journal · doi:10.1183/13993003.00308-2016 · Cited by 400 · see citing works
Self-citationIdiopathic pulmonary fibrosis: state of the art for 2023
Podolanczuk, A. J., Thomson, C. C., Remy-Jardin, M., Richeldi, L., Martinez, F. J., Kolb, M., & Raghu, G. (2023) · European Respiratory Journal · doi:10.1183/13993003.00957-2022 · Cited by 359 · see citing works
Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis
Allen, R. J., Guillen-Guio, B., Oldham, J. M., Ma, S.-F., Dressen, A., Paynton, M. L., Kraven, L. M., Obeidat, M., Li, X., Ng, M., et al. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201905-1017oc · Cited by 329 · see citing works
Allen, R. J., Porte, J., Braybrooke, R., Flores, C., Fingerlin, T. E., Oldham, J. M., Guillen-Guio, B., Ma, S.-F., Okamoto, T., John, A. E., et al. (2017) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(17)30387-9 · Cited by 297 · see citing works
Telomere-driven diseases and telomere-targeting therapies
Martínez, P., & Blasco, M. A. (2017) · Journal of Cell Biology · doi:10.1083/jcb.201610111 · Cited by 257 · see citing works
Modeling of fibrotic lung disease using 3D organoids derived from human pluripotent stem cells
Strikoudis, A., Cieślak, A., Loffredo, L., Chen, Y.-W., Patel, N., Saqi, A., Lederer, D. J., & Snoeck, H.-W. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.05.077 · Cited by 242 · see citing works
COVID-19 and pulmonary fibrosis: a potential role for lung epithelial cells and fibroblasts
John, A. E., Joseph, C., Jenkins, G., & Tatler, A. L. (2021) · Immunological Reviews · doi:10.1111/imr.12977 · Cited by 219 · see citing works
Isolated polycystic liver disease genes define effectors of polycystin-1 function
Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., et al. (2017) · Journal of Clinical Investigation · doi:10.1172/jci90129 · Cited by 203 · see citing works
Self-citationTime for a change: is idiopathic pulmonary fibrosis still idiopathic and only fibrotic?
Wolters, P. J., Blackwell, T. S., Eickelberg, O., Loyd, J. E., Kaminski, N., Jenkins, G., Maher, T. M., Molina-Molina, M., Noble, P. W., Raghu, G., et al. (2018) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(18)30007-9 · Cited by 196 · see citing works
Human Telomerase RNA Processing and Quality Control
Tseng, C.-K., Wang, H.-F., Burns, A. M., Schroeder, M. R., Gaspari, M., & Baumann, P. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.10.075 · Cited by 148 · see citing works
A tale of non-canonical tails: gene regulation by post-transcriptional RNA tailing
Yu, S., & Kim, V. N. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-0246-8 · Cited by 142 · see citing works
Newton, 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-citationBeginning at the ends: telomeres and human disease
Savage, S. A. (2018) · F1000Research · doi:10.12688/f1000research.14068.1 · Cited by 124 · see citing works
Senotherapeutics: targeting senescence in idiopathic pulmonary fibrosis
Merkt, W., Bueno, M., Mora, A. L., & Lagares, D. (2020) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2019.12.008 · Cited by 119 · see citing works
Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells
Nagpal, N., Wang, J., Zeng, J., Lo, E., Moon, D. H., Luk, K., Braun, R. O., Burroughs, L. M., Keel, S. B., Reilly, C., et al. (2020) · Cell Stem Cell · doi:10.1016/j.stem.2020.03.016 · Cited by 105 · see citing works
Novel insights from a multiomics dissection of the Hayflick limit
Chan, M., Yuan, H., Soifer, I., Maile, T. M., Wang, R. Y., Ireland, A., O'Brien, J. J., Goudeau, J., Chan, L. J., Vijay, T., et al. (2022) · eLife · doi:10.7554/elife.70283 · Cited by 99 · see citing works
“( Tsakiri et al., 2007 ; Armanios et al., 2007 ; Cronkhite et al., 2008 ; Alder et al., 2008 ; Stuart et al., 2015 ; Raghu et al., 2006 ; Duckworth et al., 2021 ; Stuart et al., 2014 ; Dai et al., 2015 ).”
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-citationp53 downregulates the Fanconi anaemia DNA repair pathway
Jaber, S., Toufektchan, E., Lejour, V., Bardot, B., & Toledo, F. (2016) · Nature Communications · doi:10.1038/ncomms11091 · Cited by 61 · see citing works
The wide-ranging clinical implications of the Short Telomere Syndromes
Barbaro, P. M., Ziegler, D. S., & Reddel, R. R. (2016) · Internal Medicine Journal · doi:10.1111/imj.12868 · Cited by 40 · see citing works
Páez-Moscoso, D. J., Ho, D. V., Pan, L., Hildebrand, K., Jensen, K. L., Levy, M. J., Florens, L., & Baumann, P. (2021) · doi:10.1101/2021.12.15.472819 · Cited by 2 · see citing works
- Authors
- Stuart, B. D., Choi, J., Zaidi, S., Xing, C., Holohan, B., Chen, R., Choi, M., Dharwadkar, P., Torres, F., Girod, C. E., Weissler, J., Fitzgerald, J., Kershaw, C., Klesney-Tait, J., Mageto, Y., Shay, J. W., Ji, W., Bilguvar, K., Mane, S., Lifton, R. P., & Garcia, C. K.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Howard Hughes Medical Institute (US)
- University of Vermont (US)
- Yale University (US)
- Corresponding author
- Garcia, Christine Kim
- ORCID
- Venue
- Nature Genetics
- Published
- 2015-04-13
- Volume
- 47
- Issue
- 5
- Pages
- 512-517
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4414891
- OpenAlex
- W1987722665
- Cited by
- 469
- References
- 39
- Citations by year
- 2026: 19 · 2025: 35 · 2024: 33 · 2023: 42 · 2022: 43 · 2021: 34 · 2020: 44 · 2019: 57 · 2018: 54 · 2017: 48 · 2016: 39 · 2015: 17 · 2014: 2 · 2013: 1
- FWCI
- 41.71
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (UL1TR001105)
- National Heart, Lung, and Blood Institute (R01HL093096)
- National Human Genome Research Institute (U54HG006504)
- National Institute of General Medical Sciences (T32GM007205)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK054759)
- National Institute of Environmental Health Sciences (P30ES005605)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD068369)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- familial pulmonary fibrosis, idiopathic pulmonary fibrosis, PARN, RTEL1, telomere shortening, telomere dysfunction, exoribonuclease, rare damaging variants, co-segregation, gene burden analysis, epigenetic inheritance, dyskeratosis congenita, genetic risk factors
- MeSH terms
- Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Cells, Cultured, DNA Mutational Analysis, DNA Helicases, Exoribonucleases, Female, Humans, Leukocytes, Lod Score, Male, Middle Aged, Molecular Sequence Data, Pedigree, Case-Control Studies, Telomere, Genetic Predisposition to Disease, Idiopathic Pulmonary Fibrosis, Genetic Association Studies, Exome, Telomere Shortening
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
