The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia
Open accessAbstract
RATIONALE: Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP); however, the genetic basis of FIP remains uncertain in most families. OBJECTIVES: To determine if new disease-causing rare genetic variants could be identified using whole-exome sequencing of affected members from FIP families, providing additional insights into disease pathogenesis. METHODS: Affected subjects from 25 kindreds were selected from an ongoing FIP registry for whole-exome sequencing from genomic DNA. Candidate rare variants were confirmed by Sanger sequencing, and cosegregation analysis was performed in families, followed by additional sequencing of affected individuals from another 163 kindreds. MEASUREMENTS AND MAIN RESULTS: We identified a potentially damaging rare variant in the gene encoding for regulator of telomere elongation helicase 1 (RTEL1) that segregated with disease and was associated with very short telomeres in peripheral blood mononuclear cells in 1 of 25 families in our original whole-exome sequencing cohort. Evaluation of affected individuals in 163 additional kindreds revealed another eight families (4.7%) with heterozygous rare variants in RTEL1 that segregated with clinical FIP. Probands and unaffected carriers of these rare variants had short telomeres (<10% for age) in peripheral blood mononuclear cells and increased T-circle formation, suggesting impaired RTEL1 function. CONCLUSIONS: Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis.
Overview
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
Verification
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.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
King, T. E., Pardo, A., & Selman, M. (2011) · The Lancet · doi:10.1016/s0140-6736(11)60052-4 · Cited by 2,194
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613
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
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
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 6×
“Previous studies using linkage and candidate gene approaches have identified rare heterozygous mutations in surfactant protein A2 (SFTPA2) (4), surfactant protein C (SFTPC) (5, 6), telomerase reverse transcriptase (TERT), telomerase RNA component (TERC) (7, 8), and dyskerin (DKC1) (9, 10) that account for at most 10–1…”
BackgroundInfluentialGenome-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
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
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
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
Regulation of Murine Telomere Length by Rtel
Ding, H., Schertzer, M., Wu, X., Gertsenstein, M., Selig, S., Kammori, M., Pourvali, R., Poon, S., Vulto, I., Chavez, E., et al. (2004) · Cell · doi:10.1016/j.cell.2004.05.026 · Cited by 309
Cited by
Richeldi, L., Collard, H. R., & Jones, M. G. (2017) · The Lancet · doi:10.1016/s0140-6736(17)30866-8 · Cited by 2,020
Stuart, 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
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
Alveolar Epithelial Type II Cells as Drivers of Lung Fibrosis in Idiopathic Pulmonary Fibrosis
Parimon, T., Yao, C., Stripp, B. R., Noble, P. W., & Chen, P. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21072269 · Cited by 375
Understanding Society Scientific Group, Wain, L. V., Geisinger-Regeneron DiscovEHR Collaboration, Shrine, N., Artigas, M. S., Erzurumluoglu, A. M., Noyvert, B., Bossini-Castillo, L., Obeidat, M., Henry, A. P., et al. (2017) · Nature Genetics · doi:10.1038/ng.3787 · Cited by 288
Metadata
- Authors
- Cogan, J. D., Kropski, J. A., Zhao, M., Mitchell, D. B., Rives, L., Markin, C., Garnett, E. T., Montgomery, K. H., Mason, W. R., McKean, D. F., Powers, J., Murphy, E., Olson, L. M., Choi, L., Cheng, D.-S., Blue, E. M., Young, L. R., Lancaster, L. H., Steele, M. P., Brown, K. K., Schwarz, M. I., Fingerlin, T. E., Schwartz, D. A., Lawson, W. E., Loyd, J. E., Zhao, Z., Phillips, J. A., & Blackwell, T. S.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-03-15
- Volume
- 191
- Issue
- 6
- Pages
- 646-655
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W2150044222
- Cited by
- 196
- References
- 10
- FWCI
- 19.74
- Type
- journal article
- Language
- en
- Open access
- green
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia. https://app.cochat.ai/papers/10.1164/rccm.201408-1510oc
- The paper
- Cogan, J. D., Kropski, J. A., Zhao, M., Mitchell, D. B., Rives, L., Markin, C., Garnett, E. T., Montgomery, K. H., Mason, W. R., McKean, D. F., Powers, J., Murphy, E., Olson, L. M., Choi, L., Cheng, D.-S., Blue, E. M., Young, L. R., Lancaster, L. H., Steele, M. P., . . . Blackwell, T. S. (2015). Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/rccm.201408-1510oc
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
