The DOI matches its Crossref record; 34 of the 35 references it cites were found in a registry or an index; none of the 31 sources its claims cite is checked for support yet.
Adult-onset pulmonary fibrosis caused by mutations in telomerase
Open accessAbstract
Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology. Some individuals with IPF have a familial disorder that segregates as a dominant trait with incomplete penetrance. Here we used linkage to map the disease gene in two families to chromosome 5. Sequencing a candidate gene within the interval, TERT , revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families. TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase ( TERC ), is required to maintain telomere integrity. Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT . A heterozygous mutation in TERC also was found in one family. Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations. Thus, mutations in TERT or TERC that result in telomere shortening over time confer a dramatic increase in susceptibility to adult-onset IPF.
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Written from the paper’s full text.
TL;DR
Mutations in *TERT* or *TERC* that cause telomere shortening confer susceptibility to adult-onset idiopathic pulmonary fibrosis (IPF). The study links telomerase dysfunction to familial and sporadic IPF, with incomplete penetrance and possible smoking exacerbation.
Key findings
- Linkage in two large families mapped disease to chromosome 5p15 with a maximal LOD score of 2.8; sequencing the candidate gene *TERT* found a missense mutation (R865H) and a frameshift mutation (V747fsX766) that cosegregated with pulmonary disease.
- In 44 additional unrelated familial interstitial lung disease probands and 44 sporadic cases, five other *TERT* mutations were found (total: two frameshift deletions and five missense mutations), plus one heterozygous *TERC* mutation (r.37a>g); none of the seven *TERT* mutations were found in 94 ethnically matched controls, 200 patients with aplastic anemia, or a multiethnic panel of 528 controls.
- Heterozygous carriers of *TERT* or *TERC* mutations had shorter telomeres than age-matched family members without the mutations; in vitro TRAP assays showed frameshift mutants had little detectable telomerase activity, missense and *TERC* mutants ranged from zero to 100% of wild-type activity, and mixing V747fs with wild-type *TERT* suggested haploinsufficiency.
- Among mutation carriers, smokers died at an average age of 58 years (n = 13) versus 68 years for nonsmokers (n = 7); all affected individuals developed pulmonary fibrosis in adulthood with no history of pediatric lung disease.
Methods
- Clinical sample: 46 families with two or more cases of idiopathic interstitial lung disease (34 of 46 families had individuals with IPF) and 44 sporadic interstitial lung disease cases (31 with IPF); genomic DNA was isolated from leukocytes, and for four individuals from formalin-fixed paraffin-embedded archival samples.
- Linkage analysis: whole-genome SNP genotyping with the Illumina Linkage IVb panel of >6,000 polymorphic SNPs; MERLIN was used for multipoint model-free and model-based linkage analysis, with the highest peak on chromosome 5p15.
- Mutation and functional analysis: *TERT* exons and splice sites and 451 bp encoding *TERC* were sequenced; telomerase activity was measured by the TRAP assay using in vitro coexpressed recombinant protein and RNA; telomere length was assessed by terminal restriction fragment (TRF) Southern blot analysis of leukocyte DNA.
Limitations
- The paper does not include a formal limitations section; it states that pulmonary fibrosis appears to be a human-specific manifestation of telomerase deficiency and that it is not yet reported whether aged telomerase-deficient mice develop similar lung pathology.
- The paper notes incomplete penetrance: some family members who inherited a *TERT* mutation had no evidence of pulmonary disease, and environmental influences such as cigarette smoking may affect the phenotype.
- Evident from the text: linkage mapping relied on two families, mutation screening focused on the candidate genes *TERT* and *TERC*, and in vitro TRAP activity did not always track telomere shortening because some mutations caused telomere shortening without a detectable decrease in telomerase activity.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Sequencing a candidate gene within the interval, TERT, revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families.”
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In the paper
“A heterozygous mutation in TERC also was found in one family.”
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In the paper
“Here we used linkage to map the disease gene in two families to chromosome 5.”
- Also stated in: § Results · plain
“Both families displayed linkage to chromosome 5p15 with a maximal logarithm of odds (LOD) score of 2.8.”
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT.”
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In the paper
“Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations.”
- Also stated in: § Results · plain
“When compared with normal family members of similar age, the mean telomere length was significantly shorter for those individuals who were heterozygous for a mutation in TERT or TERC (Fig. 5 A and B).”
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In the paper
“Thus, a total of two frameshift deletions and five missense mutations in TERT were identified in patients with pulmonary fibrosis (Fig. 3).”
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In the paper
“When telomere lengths were analyzed within families, the family members with clinical disease tended to have shorter TRFs than the asymptomatic carriers.”
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In the paper
“Mixing different amounts of the V747fs TERT construct with the wild-type TERT construct did not affect the activity of the wild-type protein, suggesting a mechanism of haploinsufficiency (Fig. 4D).”
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In the paper
“The proband of family F11 was heterozygous for a transition mutation (CGT → CAT) in codon 865 that is predicted to change a highly conserved arginine to a histidine.”
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In the paper
“The five missense mutations in TERT (Fig. 4 B and C) and the mutation in TERC (Fig. 4 A and C) produced levels of telomerase activity that ranged from zero to 100% of wild-type activity.”
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In the paper
“Four additional sequence variations, including three missense mutations and one 177-bp deletion, were found (Fig. 3).”
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In the paper
“None of the seven mutations were found in 94 locally collected, ethnically matched individuals, nor were they detected in 200 patients with aplastic anemia or a multiethnic panel of 528 individuals sequenced as controls (9).”
What the sources say
- Not checked yetcites [9] Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS. N Engl J Med. 2005;352:1413–1424. doi: 10.1056/NEJMoa042980. [DOI] [PubMed] [Google Scholar] source
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In the paper
“All developed pulmonary fibrosis during their adult years with no history of pediatric lung disease, in contrast with kindreds associated with surfactant protein C mutations (18, 19).”
What the sources say
- Not checked yetcites [18] Thomas AQ, Lane K, Phillips J, III, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, et al. Am J Respir Crit Care Med. 2002;165:1322–1328. doi: 10.1164/rccm.200112-123OC. [DOI] [PubMed] [Google Scholar] source
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In the paper
“None had aplastic anemia but several exhibited a mild to moderate anemia and one individual developed neutropenia after lung transplantation.”
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In the paper
“One additional missense mutation was identified involving the same arginine at codon 865 found to be mutated in family F11.”
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In the paper
“Another individual with a TERT mutation in this family had very short TRFs but did not have IPF. This individual had cirrhosis of unknown etiology.”
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In the paper
“The proband of family F31 was heterozygous for a deletion of thymidine at position 2240 in the cDNA, which creates a frameshift in the reading frame and is predicted to result in a truncated protein missing half of the reverse-transcriptase domain and the entire C-terminal region.”
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In the paper
“As expected, the mutation (V747fs, Fig. 4 A and C) missing half the reverse transcriptase domain and the mutation (E1116fs; Fig. 4C) missing the C-terminal E-IV domain had very little detectable telomerase activity.”
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In the paper
“This change was not detected in 94 ethnically matched controls but was identified previously in a person with severe aplastic anemia who was a compound heterozygote for variants in TERC (12).”
What the sources say
- Not checked yetcites [12] Ly H, Schertzer M, Jastaniah W, Davis J, Yong SL, Ouyang Q, Blackburn EH, Parslow TG, Lansdorp PM. Blood. 2005;106:1246–1252. doi: 10.1182/blood-2005-01-0247. [DOI] [PMC free article] [PubMed] [Google Scholar] source
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In the paper
“A number of individuals had evidence of axial osteoporosis; in many cases, this diagnosis preceded or was determined in the absence of lung disease.”
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In the paper
“For both families, some family members with TERT mutations exhibited other clinical features of DKC (7), such as osteoporosis/osteopenia, anemia and cancer (Table 1), but none of the affected individuals had the mucocutaneous lesions typical of DKC.”
What the sources say
- Not checked yetcites [7] Dokal I. Br J Haematol. 2000;110:768–779. doi: 10.1046/j.1365-2141.2000.02109.x. [DOI] [PubMed] [Google Scholar] source
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In the paper
“The individuals with TERT or TERC mutations have none of the physical manifestations of DKC and were all ascertained by the lung fibrosis phenotype, distinguishing them from previously described patients with mutations in these genes (6, 9, 10, 17).”
What the sources say
- Not checked yetcites [6] Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Proc Natl Acad Sci USA. 2005;102:15960–15964. doi: 10.1073/pnas.0508124102. [DOI] [PMC free article] [PubMed] [Google Scholar] source
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In the paper
“One proband of a Caucasian family (F61) was heterozygous for an adenosine and guanine at position 37.”
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In the paper
“Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology.”
- Also stated in: § Abstract · plain
“IPF is distinguished from the other interstitial lung diseases by its unknown etiology, by characteristic abnormalities on pulmonary function tests and radiographs, and by biopsy findings, which include evidence of injury occurring over time with foci of replicating fibroblasts at the interface between normal and scarred lung tissue (3).”
What the sources say
- Not checked yetcites [3] American Thoracic Society/European Respiratory Society. Am J Respir Crit Care Med. 2002;165:277–304. doi: 10.1164/ajrccm.165.2.ats01. [DOI] [PubMed] [Google Scholar] source
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In the paper
“Among the genes we evaluated was TERT, which was considered a candidate because a mutation in this gene was recently reported to cause autosomal dominant dyskeratosis congenita (DKC), a disorder in which 20% of affected individuals develop pulmonary fibrosis (6, 7).”
What the sources say
- Not checked yetcites [6] Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Proc Natl Acad Sci USA. 2005;102:15960–15964. doi: 10.1073/pnas.0508124102. [DOI] [PMC free article] [PubMed] [Google Scholar] source
- Not checked yetcites [7] Dokal I. Br J Haematol. 2000;110:768–779. doi: 10.1046/j.1365-2141.2000.02109.x. [DOI] [PubMed] [Google Scholar] source
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In the paper
“The clinical presentation of familial IPF is indistinguishable from sporadic IPF except that the age of onset tends to be earlier (55 years vs. 67 years) (4, 5).”
What the sources say
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In the paper
“All sequences were determined in both directions, the mutations were confirmed by three separate PCR amplification products, and both genes were sequenced in their entirety for all subjects.”
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In the paper
“Telomere length is also influenced by oxidative damage (24) that, in part, may explain why lung disease is the predominant phenotype and why smoking may exacerbate this disease.”
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In the paper
“The pathologic features of IPF suggest that the lung injury is focal, affecting scattered portions of the lung parenchyma and recurring over many years (21).”
What the sources say
- Not checked yetcites [21] Katzenstein AL, Myers JL. Am J Respir Crit Care Med. 1998;157:1301–1315. doi: 10.1164/ajrccm.157.4.9707039. [DOI] [PubMed] [Google Scholar] source
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In the paper
“Repeat experiments showed the same relative trend of TRAP activities.”
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In the paper
“Multiple different mutations in TERC have been described for patients with DKC (10).”
What the sources say
- Not checked yetcites [10] Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. Nature. 2001;413:432–435. doi: 10.1038/35096585. [DOI] [PubMed] [Google Scholar] source
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In the paper
“Pulmonary fibrosis appears to be a human-specific manifestation of telomerase deficiency.”
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In the paper
“Call rates varied from 99.7–100% for Autopure-purified DNA and between 72–98% for whole-genome-amplified DNA extracted from archival samples.”
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In the paper
“Telomerase may be a marker for identifying resident stem cells that promote regeneration and prevent premature aging of the lung.”
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In the paper
“Smoking causes telomere shortening in a dose-dependent manner (22) and is associated with familial interstitial pneumonia (23).”
What the sources say
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In the paper
“Interestingly, a recent trial with high doses of the antioxidant acetylcysteine appeared to attenuate the progression of IPF (25).”
What the sources say
- Not checked yetcites [25] Demedts M, Behr J, Buhl R, Costabel U, Dekhuijzen R, Jansen HM, MacNee W, Thomeer M, Wallaert B, Laurent F, et al. N Engl J Med. 2005;353:2229–2242. doi: 10.1056/NEJMoa042976. [DOI] [PubMed] [Google Scholar] source
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In the paper
“This report provides previously undescribed molecular insight into the pathogenesis of IPF and expands the scope of diseases caused by mutations in telomerase.”
Tests✓ Asserted: passes? Checkable: unclear✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
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In the paper
“Telomere length is influenced by many different factors, including age (13, 14) and the number of generations the mutation is transmitted (6, 15).”
What the sources say
- Not checked yetcites [13] Hastie ND, Dempster M, Dunlop MG, Thompson AM, Green DK, Allshire RC. Nature. 1990;346:866–868. doi: 10.1038/346866a0. [DOI] [PubMed] [Google Scholar] source
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In the paper
“This study was approved by the University of Texas Southwestern Institutional Review Board. Written informed consent was obtained from all participants.”
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In the paper
“Such a pattern of injury could explain why the pulmonary phenotype is incompletely penetrant and may be influenced not only by the nature of the mutations but also by environmental influences, such as cigarette smoking.”
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The paper relies on this without support.
TERT encodes telomerase reverse transcriptase, which together with TERC is required to maintain telomere integrity.
“TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase (TERC), is required to maintain telomere integrity.”
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?
The cited source says what the claim attributes to it.
In the citing paper
“The fact that AAV9-TERT treatment of old mice efficiently reactivated telomerase in the lungs offers a therapeutic opportunity for some cases of human pulmonary fibrosis associated with presence of short telomeres owing to telomerase mutations (Armanios et al, 2007; Tsakiri et al, 2007).”
From Telomerase gene therapy in adult and old mice delays aging and increases longevity without increasing cancer (2012) · cites this paper as Tsakiri et al, 2007
In the citing paper
“The frequency of these mutations is highest in individuals with the progressive disorder IPF, which accounts for 8–15% of familial and 1–3% of sporadic cases54,56,68,69.”
From The telomere syndromes (2012) · cites this paper as [68]
In the citing paper
“By contrast, telomere shortening is accelerated in several human premature ageing syndromes, and patients with dyskeratosis congenita and aplastic anaemia show decreased telomerase activity and shortened telomeres owing to mutations in the TERC and TERT telomerase genes.”
From The common biology of cancer and ageing (2007) · cites this paper as [63]
In the citing paper
“patients who have inherited or acquired genetic defects that limit telomere maintenance seem to be at substantially increased risk of a range of conditions including aplastic anaemia 61 , idiopathic pulmonary fibrosis 62, 63 and the rarer dyskeratosis congenita syndrome”
From The common biology of cancer and ageing (2007) · cites this paper as [63]
Citations
Cites
Telomeres shorten during ageing of human fibroblasts
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Self-citationIdiopathic Pulmonary Fibrosis: Clinical Relevance of Pathologic Classification
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Highlights on Future Treatments of IPF: Clues and Pitfalls
Libra, A., Sciacca, E., Muscato, G., Sambataro, G., Spicuzza, L., & Vancheri, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25158392 · Cited by 22
“Genetic defects altering the activity of TERT and TERC were the first described and the most common in IPF patients [10,11].”
BackgroundTometten, M., Kirschner, M., Meyer, R., Begemann, M., Halfmeyer, I., Vieri, M., Kricheldorf, K., Maurer, A., Platzbecker, U., Radsak, M. P., et al. (2023) · HemaSphere · doi:10.1097/hs9.0000000000000874 · Cited by 24
Telomeres: Dysfunction, Maintenance, Aging and Cancer
Liao, P., Yan, B., Wang, C., & Lei, P. (2023) · Aging and Disease · doi:10.14336/ad.2023.1128 · Cited by 22
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research
Wang, Y., & Zhou, W. (2016) · The Application of Clinical Genetics · doi:10.2147/tacg.s61999 · Cited by 23
Zhou, W., Zhuang, Y., Sun, J., Wang, X., Zhao, Q., Xu, L., & Wang, Y. (2017) · Scientific Reports · doi:10.1038/s41598-017-04486-y · Cited by 22
The Immunome in Two Inherited Forms of Pulmonary Fibrosis
El‐Chemaly, S., Cheung, F., Kotliarov, Y., O’Brien, K., Gahl, W. A., Chen, J., Perl, S., Biancotto, A., & Gochuico, B. R. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00076 · Cited by 23
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
Doubková, M., Kozubík, K. S., Radová, L., Pešová, M., Trizuljak, J., Pál, K., Svobodová, K., Réblová, K., Svozilová, H., Vrzalová, Z., et al. (2019) · Human Genome Variation · doi:10.1038/s41439-019-0044-z · Cited by 24
Panagiotidis, G., Vásquez‐Pacheco, E., Chu, X., Seeger, W., Agha, E. E., Bellusci, S., & Lingampally, A. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1609509 · Cited by 22
Familial Interstitial Lung Disease
Kropski, J. A. (2020) · Seminars in Respiratory and Critical Care Medicine · doi:10.1055/s-0040-1708054 · Cited by 22
Lung Transplant Improves Survival and Quality of Life Regardless of Telomere Dysfunction
Planas‐Cerezales, L., Arias‐Salgado, E. G., Berastegui, C., Montes‐Worboys, A., González‐Montelongo, R., Lorenzo-Salazar, J. M., Vicens‐Zygmunt, V., Garcia-Moyano, M., Dorca, J., Flores, C., et al. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.695919 · Cited by 24
Idiopathic pulmonary fibrosis: Diagnosis, biomarkers and newer treatment protocols
Patel, H., Shah, J. R., Patel, D., Avanthika, C., Jhaveri, S., & Gor, K. (2022) · Disease-a-Month · doi:10.1016/j.disamonth.2022.101484 · Cited by 21
Acute Exacerbations of Interstitial Lung Diseases: Focus on Biomarkers
Drakopanagiotakis, F., Markart, P., & Steiropoulos, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241210196 · Cited by 21
Is telomerase a novel target for metastatic colon cancer?
Roig, A. I., Wright, W. E., & Shay, J. W. (2009) · Current Colorectal Cancer Reports · doi:10.1007/s11888-009-0028-3 · Cited by 21
Self-citationGenetics of Interstitial Lung Disease: Vol de Nuit (Night Flight)
Furukawa, H., Oka, S., Shimada, K., Tsuchiya, N., & Tohma, S. (2015) · Clinical Medicine Insights Circulatory Respiratory and Pulmonary Medicine · doi:10.4137/ccrpm.s23283 · Cited by 21
Differential telomerase expression in idiopathic pulmonary fibrosis and non-small cell lung cancer
Antoniou, K. M., Samara, K. D., Lasithiotaki, I., Margaritopoulos, G. A., Soufla, G., Lambiri, I., Giannarakis, I., Drositis, I., Spandidos, D. A., & Siafakas, N. M. (2013) · Oncology Reports · doi:10.3892/or.2013.2753 · Cited by 22
“genes cause a shortening of telomere lengths, and account for approximately 10% of familial IPF cases (24-26).”
BackgroundAscher, K. B., Elliot, S. J., Rubio, G. A., & Glassberg, M. K. (2017) · Clinics in Geriatric Medicine · doi:10.1016/j.cger.2017.07.001 · Cited by 20
Dysfunctional telomeres and dyskeratosis congenita
Bessler, M., Du, H., Gu, B., & Mason, P. J. (2007) · Haematologica · doi:10.3324/haematol.11221 · Cited by 21
Stout, G. J., & Blasco, M. A. (2009) · Disease Models & Mechanisms · doi:10.1242/dmm.002121 · Cited by 22
“Tin2), including dyskeratosis congenita, some cases of aplastic anemia and idiopathic pulmonary fibrosis (Mitchell et al., 1999; Vulliamy et al., 2001; Yamaguchi et al., 2005; Armanios et al., 2007; Tsakiri et al., 2007; Savage et al., 2008).”
BackgroundAmirmahani, F., Ebrahimi, N., Molaei, F., Faghihkhorasani, F., Goharrizi, K. J., Mirtaghi, S. M., Boroujeni, M. B., & Hamblin, M. R. (2021) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14544 · Cited by 20
“These approaches have concentrated on surfactant-related proteins, 200,201 telomere pathway–associated gene variants, 202,203 and other genetic variants that have recently been recognized by linkage and genome-wide association studies.”
BackgroundFamilial forms of nonspecific interstitial pneumonia/idiopathic pulmonary fibrosis
Borie, R., Kannengiesser, C., & Crestani, B. (2012) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0b013e328356b15c · Cited by 22
“Mutations in the telomerase complex components were associated with FIP in 2007 [8,9], targeting TERT protein, and rarely TERC.”
BackgroundDiffuse lung disease in children: Summary of a scientific conference
Hamvas, A., Deterding, R. R., Balch, W. E., Schwartz, D. A., Albertine, K. H., Whitsett, J. A., Cardoso, W. V., Kotton, D. N., Kourembanas, S., & Hagood, J. S. (2013) · Pediatric Pulmonology · doi:10.1002/ppul.22805 · Cited by 20
“Mutations in the genes encoding surfactant protein-A2 (SFTPA2) and telomerases (TERT and TERC) have been associated with familial IPF and lung cancer in adulthood, but whether or not mutations in these genes contribute to childhood ILD is unknown.(17,18) Diffuse Lung Disease Conference Summary 401”
BackgroundExtrahematopoietic manifestations of the short telomere syndromes
Schratz, K. E. (2020) · Hematology · doi:10.1182/hematology.2020000170 · Cited by 21
He, M., Wang, K., Che, H., Wang, H., Yang, K., Zhang, G., Yao, J., & Wang, J. (2022) · European Journal of Medicinal Chemistry Reports · doi:10.1016/j.ejmcr.2022.100060 · Cited by 18
Tomos, I. P., Karakatsani, A., Manali, E. D., Kottaridi, C., Spathis, A., Argentos, S., & Papiris, S. A. (2020) · Pulmonology · doi:10.1016/j.pulmoe.2020.11.005 · Cited by 19
“Our results are compatible with those of previous studies, showing that IPF patients with no family history have significantly shorter TL compared to age-matched controls.(6,13,15,16,18,19) Alder and co-authors showed that although mutations in the essential components of telomerase were detected in only 1% of individ…”
ResultShall we call them “telomere-mediated”? Renaming the idiopathic after the cause is found
Merck, S. J., & Armanios, M. Y. (2016) · European Respiratory Journal · doi:10.1183/13993003.02115-2016 · Cited by 18
Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases
Wang, J. Y., & Young, L. R. (2022) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2021-0557tr · Cited by 18
Novel mediators of idiopathic pulmonary fibrosis
Saito, S., Deskin, B., Rehan, M., Yadav, S., Matsunaga, Y., Lasky, J. A., & Thannickal, V. J. (2022) · Clinical Science · doi:10.1042/cs20210878 · Cited by 19
Calado, R. T. (2014) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-397898-1.00008-6 · Cited by 18
“A second group performed whole genome SNP linkage scan in two large families with familial IPF, identifying a linkage to chromosome 5p15.(17) As the TERT gene is in the region and a potential link between tel-”
BackgroundImran, S. A. M., Yazid, M. D., Idrus, R. B. H., Maarof, M., Nordin, A., Razali, R. A., & Lokanathan, Y. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22083888 · Cited by 18
“various diseases, such as dyskerato is congenita [11–13], pulmonary fibrosis [14,15], and”
BackgroundProgressive Fibrosing Interstitial Lung Diseases: A Current Perspective
Albera, C., Verri, G., Sciarrone, F., Sitia, E., Mangiapia, M., & Solidoro, P. (2021) · Biomedicines · doi:10.3390/biomedicines9091237 · Cited by 17
“Pathogenic mutations in telomere genes can result in short telomeres and chromosome degradation, eventually resulting in fibrosis and organ dysfunction [27].”
BackgroundUse of a Genealogical Database Demonstrates Heritability of Pulmonary Fibrosis
Scholand, M. B., Coon, H. H., Wolff, R. K., & Cannon‐Albright, L. (2013) · Lung · doi:10.1007/s00408-013-9484-2 · Cited by 20
“These genes include surfactant protein C (SFTPC) [4, 5], surfactant protein A2 (SFTPA2) [6, 7], telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) [8, 9].”
BackgroundUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs
van Moorsel, C. H. M., Hoffman, T. W., van Batenburg, A. A., Klay, D., van der Vis, J. J., & Grutters, J. C. (2015) · BioMed Research International · doi:10.1155/2015/304186 · Cited by 19
“However, carriers of mutations that cause a minor decrease in overall telomerase activity were shown to cause significant reduction of telomere length over generations that will eventually lead to telomere syndromes [55, 56, 59].”
BackgroundInterstitial lung disease in the elderly: pathogenesis, diagnosis and management.
Meyer, K. C. (2011) · Sarcoidosis vasculitis and diffuse lung diseases · Cited by 18
TRIM28 inhibits alternative lengthening of telomere phenotypes by protecting SETDB1 from degradation
Wang, C., Songyang, Z., & Huang, Y. Y. (2021) · Cell & Bioscience · doi:10.1186/s13578-021-00660-y · Cited by 19
Poly (A)-specific ribonuclease (PARN): More than just “mRNA stock clearing”
Nanjappa, D. P., Babu, N., Khanna‐Gupta, A., O’Donohue, M.-F., Sips, P. Y., & Chakraborty, A. (2021) · Life Sciences · doi:10.1016/j.lfs.2021.119953 · Cited by 25
Idiopathic Pulmonary Fibrosis and Telomeres
Mulet, A., & Signes‐Costa, J. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11236893 · Cited by 20
Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
Papiris, S. A., Kannengiesser, C., Borie, R., Kolilekas, L., Kallieri, M., Apollonatou, V., Ba, I., Nathan, N., Bush, A., Griese, M., et al. (2022) · Diagnostics · doi:10.3390/diagnostics12122928 · Cited by 18
Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis
García‐Castillo, J., Alcaraz‐Pérez, F., Martínez‐Balsalobre, E., García‐Moreno, D., Rossmann, M. P., Fernández-Lajarín, M., Bernabé‐García, M., Pérez‐Oliva, A. B., Rodríguez-Cortez, V., Bueno, C., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2015528118 · Cited by 17
“Telomerase complex mutations have been associated with several human diseases, such as cancer and aging, as well as to some rare disorders, such as dyskeratosis congenita (DC) (4, 5) and idiopathic pulmonary fibrosis (6).”
BackgroundTomlinson, C. G., Moye, A. L., Holien, J. K., Parker, M. W., Cohen, S. B., & Bryan, T. M. (2014) · Biochemical Journal · doi:10.1042/bj20140922 · Cited by 17
Ma, F., Wang, T., Jiang, L., & Zhang, C. (2018) · Analytica Chimica Acta · doi:10.1016/j.aca.2018.11.058 · Cited by 17
Chapman, H. A. (2011) · New England Journal of Medicine · doi:10.1056/nejme1101800 · Cited by 17
Air pollution and alveolar health
Sofia, C., Parkin, J., Bell, J. A., Dean, L. S. N., Edgeway, L. J., Sayer, L. N., Easton, N. H. C., Davies, D. E., Marshall, B. G., Holgate, S. T., et al. (2025) · European Respiratory Review · doi:10.1183/16000617.0280-2024 · Cited by 20
“The involvement of telomeres in pulmonary fibrosis is also supported by evidence that variations in the genes telomere reverse transcriptase ( TERT ) and telomerase RNA component ( TERC ) are associated with development or prognosis of pulmonary fibrosis [122 – 124].”
Zhang, K., Wang, L., Hong, X., Chen, H., Shi, Y., Liu, Y., Liu, J., & Liu, J. (2021) · Cells · doi:10.3390/cells10112892 · Cited by 16
Challenges in IPF diagnosis, current management and future perspectives.
Wells, A. U., Costabel, U., Poletti, V. E., Crestani, B., Egan, J. J., Margaritopoulos, G. A., & Antoniou, K. M. (2015) · Sarcoidosis vasculitis and diffuse lung diseases · Cited by 17
Molecular Biomarkers in Interstitial Lung Diseases
Lauretis, A. D., & Renzoni, E. A. (2014) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-014-0109-0 · Cited by 18
“Rare mutations in genes encoding for surfactant and telomerase proteins were initially identified in familial forms of pulmonary fibrosis, and subsequently confirmed in sporadic forms [134–138].”
BackgroundPathogenesis of Pulmonary Fibrosis in Systemic Sclerosis: Lessons from Interstitial Lung Disease
Veraldi, K. L., Hsu, E., & Feghali‐Bostwick, C. A. (2010) · Current Rheumatology Reports · doi:10.1007/s11926-009-0071-8 · Cited by 16
“Mutations in telomerase genes and abnormal telomere length have been associated with familial and sporadic forms of pulmonary fibrosis [42, 43 ] and in SSc [44].”
Background(2010) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200903-0483ed · Cited by 16
Τzouvelekis, Α., Aidinis, V., Harokopos, V., Karameris, A., Zacharis, G., Mikroulis, D. A., Konstantinou, F., Steiropoulos, P., Sotiriou, I., Froudarakis, Μ. E., et al. (2009) · Respiratory Research · doi:10.1186/1465-9921-10-14 · Cited by 15
“Whether patients with sporadic or familial IPF present with mutations in Ing4, as it happens with telomerase [36-39], and whether these mutations affect ING4 expression and are associated with patients' survival and treatment response, remains to be proven.”
BackgroundUnclassifiable interstitial lung disease: a pathologist's perspective
Jones, K. D. (2018) · European Respiratory Review · doi:10.1183/16000617.0132-2017 · Cited by 15
Husain, A. N. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4377-0792-2.50020-1 · Cited by 15
Telomeres revisited:RTEL1variants in pulmonary fibrosis
Kropski, J. A., & Loyd, J. E. (2015) · European Respiratory Journal · doi:10.1183/13993003.00710-2015 · Cited by 15
Serum Telomerase Levels and COPD Exacerbations
Bozkuş, F., Güler, S., & Şimşek, S. (2016) · Respiratory Care · doi:10.4187/respcare.04389 · Cited by 16
Telomerase gene variants and telomere shortening in patients with silicosis or asbestosis
Fan, Y., Zheng, C., Wu, N., Li, Y., Huang, X., & Ye, Q. (2020) · Occupational and Environmental Medicine · doi:10.1136/oemed-2020-107046 · Cited by 15
Stuck in a Moment: Does Abnormal Persistence of Epithelial Progenitors Drive Pulmonary Fibrosis?
Auyeung, V. C., & Sheppard, D. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202010-3898ed · Cited by 15
“Sin3a-LOF–induced p53 activation has particular relevance to IPF because a substantial proportion of familial IPF probands have mutations that map to telomerase pathway genes, with attendant activation of DNA damage signaling (8, 9).”
BackgroundUpdate of Aging Hallmarks in Idiopathic Pulmonary Fibrosis
Torres‐Machorro, A. L., García-Vicente, Á., Espina-Ordoñez, M., Luis‐García, E. R., Negreros, M., Herrera, I., Becerril, C., Toscano-Marquez, F., Cisneros, J., & Maldonado, M. (2025) · Cells · doi:10.3390/cells14030222 · Cited by 14
Popper, H., Stacher‐Priehse, E., Brčić, L., & Nerlich, A. (2021) · Rheumatology International · doi:10.1007/s00296-021-05002-2 · Cited by 14
Immune Stroma in Lung Cancer and Idiopathic Pulmonary Fibrosis: A Common Biologic Landscape?
Lettieri, S., Oggionni, T., Lancia, A., Bortolotto, C., & Stella, G. M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22062882 · Cited by 14
“It is known that inherited mutations of TERC and TERT genes are associated with 8–20% of familial IPF and with 1% of sporadic IPF [55,59,60].”
BackgroundSivley, R. M., Sheehan, J. H., Kropski, J. A., Cogan, J. D., Blackwell, T. S., Phillips, J. A., Bush, W. S., Meiler, J., & Capra, J. A. (2018) · BMC Bioinformatics · doi:10.1186/s12859-018-2010-z · Cited by 14
“The most commonly mutated genes in FIP patients are TERT (10–15% of cases) [15, 16], RTEL1, and”
BackgroundJiang, X., Fang, G., Li, D., Jin, P., Ding, L., Zhang, H., Fan, J., Mao, S., Fan, X., Gong, Y., et al. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2018.08.014 · Cited by 15
Genetics and animal models of familial pulmonary fibrosis
Yasutomo, K. (2021) · International Immunology · doi:10.1093/intimm/dxab026 · Cited by 14
“Previous studies have revealed heterozygous mutations in the TERT and TERC genes in patients with familial pulmonary fibrosis and sporadic IPF (19–21).”
BackgroundNguyen, J., Armstrong, B. S., Cowman, S. J., Tomer, Y., Veerabhadraiah, S. R., Beers, M. F., & Venosa, A. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.875887 · Cited by 13
“Our group has previously characterized a viable murine strain which, as a result of induction of the mutant SP-C isoform, generates a complex multicellular inflammatory exacerbation of lung injury progressing to fibrosis (Brasch et al., 2004; Tsakiri et al., 2007; Abou Taam et al., 2009; Nureki et al., 2018).”
BackgroundLettieri, S., Bertuccio, F. R., Frate, L. D., Perrotta, F., Corsico, A. G., & Stella, G. M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms25010547 · Cited by 14
Singh, S., & Wairkar, S. (2024) · AAPS PharmSciTech · doi:10.1208/s12249-024-02793-y · Cited by 14
“[19–21] by inhibiting the inflammatory response, and this argument continues to drive the use of corticosteroids and azathioprine as first-line treatment for IPF [1].”
Yuan, Y., Lu, C., Xue, L., & Ge, D. (2014) · Tumor Biology · doi:10.1007/s13277-013-1583-4 · Cited by 12
“Mutations in the TERTgene have also been described in patients with idiopathic pulmonary fibrosis [51, 52].”
BackgroundELISA for Aging Biomarkers Induced by Telomere Dysfunction in Human Plasma
Jiang, H., Chen, W., Qu, L., Chen, Y., He, Q., Wang, H., Wu, J., Shou, Z., Ju, Z., & Chen, J. (2010) · BioMed Research International · doi:10.1155/2010/121947 · Cited by 15
How stem cells keep telomeres in check
Li, J. S. Z., & Denchi, E. L. (2018) · Differentiation · doi:10.1016/j.diff.2018.01.004 · Cited by 17
“People with DC are vulnerable to disorders that impair bone marrow function (Armanios et al., 2007; Kirwan and Dokal, 2009; Shay and Wright, 1999; Tsakiri et al., 2007).”
Desai, A. A., Hysi, P. G., & Garcia, J. G. N. (2007) · Translational research · doi:10.1016/j.trsl.2007.10.005 · Cited by 13
“Subjects het- e s i a fi i p s t p a l s g s l H s c i a p c c t i s c c u e a c T fi a d a 2 C t f g o p f p b a a d d m w l u rozygous for these mutations demonstrated telomere hortening and an increased susceptibility to developng IPF.34 Association studies at a genomic scale have lso been reported recently for sev…”
BackgroundInfluentialSenhaji, L., Senhaji, N., Abbassi, M., Karhate, M., Serraj, M., Biaze, M. E., Benjelloun, M. C., Ouldim, K., Bouguenouch, L., & Amara, B. (2026) · Biomedicines · doi:10.3390/biomedicines14010090 · Cited by 14
Genetic and Epigenetic Inheritance at Telomeres
Lister‐Shimauchi, E. H., McCarthy, B., Lippincott, M. J., & Ahmed, S. C. (2022) · Epigenomes · doi:10.3390/epigenomes6010009 · Cited by 13
“The pathological consequences of short telomeres were further broadened when telomerase mutations were identified in families whose members had idiopathic pulmonary fibrosis, most of whom lacked features of dyskeratosis congenita [53,68].”
BackgroundBanaszak, L. G., Smith-Simmer, K. J., Shoger, K., Lovrien, L., Malik, A., Sandbo, N. K., Sultan, S., Guzy, R. D., Lowery, E. M., & Churpek, J. E. (2023) · Respiratory Medicine · doi:10.1016/j.rmed.2023.107464 · Cited by 12
Polygenic modifiers impact penetrance and expressivity in telomere biology disorders
Poeschla, M., Arora, U. P., Walne, A. J., McReynolds, L. J., Niewisch, M. R., Giri, N., Zeigler, L. P., Gusev, A., Machiela, M. J., Tummala, H., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci191107 · Cited by 12
Pharmacogenetics and interstitial lung disease
Oldham, J. M., Noth, I., & Martínez, F. J. (2016) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000289 · Cited by 12
Lung Fibrosis, Premature Graying, and Macrocytosis
Chambers, D. C., Clarke, B. E., McGaughran, J. M., & Garcia, C. K. (2012) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201112-2175im · Cited by 12
Self-citationFamilial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features
Chibbar, R., Gjevre, J. A., Shih, F., Neufeld, H., Lemire, E. G., Fladeland, D. A., & Cockcroft, D. W. (2010) · Canadian Respiratory Journal · doi:10.1155/2010/591523 · Cited by 13
Borie, R., Kannengiesser, C., Dupin, C., Debray, M., Cazes, A., & Crestani, B. (2020) · La Presse Médicale · doi:10.1016/j.lpm.2020.104024 · Cited by 12
Huang, P., Li, R., Shen, L., He, W., Chen, S., Dong, Y., Ma, J., Chen, X., & Xu, M. M. (2020) · Therapeutic Advances in Medical Oncology · doi:10.1177/1758835920933029 · Cited by 12
M’kacher, R., Jaillet, M., Colicchio, B., Vasarmidi, E., Mailleux, A., Dieterlen, A., Kannengiesser, C., Borie, C., Oudrhiri, N., Junker, S., et al. (2022) · Biomedicines · doi:10.3390/biomedicines10020310 · Cited by 15
“TRG mutations are currently found in 30% of the cases of familial pulmonary fibrosis and more rarely in sporadic IPF, although a 10% prevalence of TRG mutations has been reported in sporadic IPF patients prior to lung transplantation [12,13].”
BackgroundFibrose pulmonaire idiopathique
Cottin, V., & Cordier, J.-F. (2008) · La Presse Médicale · doi:10.1016/j.lpm.2008.01.024 · Cited by 12
Idiopathic Interstitial Pneumonias
King, T. E. (2006) · Humana Press eBooks · doi:10.1007/978-1-59259-963-9_21 · Cited by 12
Garcia, C. K. (2015) · CHEST Journal · doi:10.1378/chest.15-0077 · Cited by 12
Self-citationLuyapan, J., Bossé, Y., Li, Z., Xiao, X., Rosenberger, A., Hung, R. J., Lam, S. C., Zienolddiny, S., Liu, G., Kiemeney, L. A. L. M., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad095 · Cited by 13
Circular RNAs and their roles in idiopathic pulmonary fibrosis
Surendran, A. M., Huang, C., & Liu, L. (2024) · Respiratory Research · doi:10.1186/s12931-024-02716-2 · Cited by 13
Shah, P. D., & Armanios, M. Y. (2025) · European Respiratory Journal · doi:10.1183/13993003.01545-2024 · Cited by 11
“Mutations in nine telomerase and telomere maintenance genes are confirmed to predispose to adult-onset pulmonary fibrosis by co-segregation in large families and functional studies (table 1) [2 – 13].”
Integrative analysis reveals the recurrent genetic etiologies in idiopathic pulmonary fibrosis
Guo, S., Dong, Y., Wang, C., Jiang, Y., Xiang, R., Fan, L., Luo, H., & Liu, L. (2023) · QJM · doi:10.1093/qjmed/hcad206 · Cited by 12
Genetic background of idiopathic pulmonary fibrosis
Santangelo, S., Scarlata, S., Zito, A., Chiurco, D., Pedone, C., & Incalzi, R. A. (2013) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.13.22 · Cited by 12
Treating IPF—all or nothing? A PRO‐CON debate
Behr, J., Kolb, M. R. J., & Cox, G. (2009) · Respirology · doi:10.1111/j.1440-1843.2009.01645.x · Cited by 11
A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding
Boyraz, B., Bellomo, C. M., Fleming, M. D., Cutler, C. S., & Agarwal, S. (2016) · Blood · doi:10.1182/blood-2016-04-710160 · Cited by 11
Connecting the Dots: Telomere Shortening and Rheumatic Diseases
Han, F., Riaz, F., Pu, J., Gao, R., Yang, L., Wang, Y., Song, J., Liang, Y., Wu, Z., Li, C., et al. (2024) · Biomolecules · doi:10.3390/biom14101261 · Cited by 10
Kumar, A., Dougherty, M. L., Findlay, G. M., Geisheker, M. R., Klein, J. C., Lazar, J. E., Machkovech, H. M., Resnick, J. M., Resnick, R., Salter, A. I., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0106744 · Cited by 10
“g [51]”
InfluentialTelomere dysfunction in human bone marrow failure syndromes
Shtessel, L., & Ahmed, S. C. (2011) · Nucleus · doi:10.4161/nucl.2.1.13993 · Cited by 12
Genes, other than Muc5b, play a role in bleomycin-induced lung fibrosis
Dobrinskikh, E., Estrella, A. M., Hennessy, C. E., Hara, N., Schwarz, M. I., Kurche, J. S., Yang, I. V., & Schwartz, D. A. (2021) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00615.2020 · Cited by 11
Assessment of Telomerase Reverse Transcriptase Single Nucleotide Polymorphism in Sleep Bruxism
Macek, P., Wieckiewicz, M. A., Poręba, R., Gać, P., Bogunia‐Kubik, K., Dratwa, M., Wojakowska, A., Mazur, G. J., & Martynowicz, H. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11030525 · Cited by 10
Molecular genetics of idiopathic pulmonary fibrosis
Mustafin, R. N. (2022) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-22-37 · Cited by 11
“Up to 18 % of all familial IPFs are caused by mutations in the genes of telomerase components: TERT (c.97C>T, c.430G>A, c.1456C>T, c.2240delT, c.2593C>T, c.2594G>A, c.3346_3522del) и TERC (r.37a>g) (Tsakiri et al., 2007).”
BackgroundInfluentialByrjalsen, A., Brainin, A. E., Lund, T. K., Andersen, M. K., & Jelsig, A. M. (2023) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-023-00251-7 · Cited by 10
Therapeutic Strategies for Idiopathic Pulmonary Fibrosis – Thriving Present and Promising Tomorrow
Gupta, N., Paryani, M., Patel, S. S., Bariya, A. H., Srivastava, A., Pathak, Y. V., & Butani, S. (2024) · The Journal of Clinical Pharmacology · doi:10.1002/jcph.2408 · Cited by 11
“92 In recent years, promising treatments were developed to regain and enhance telomerase activity.”
BackgroundEpigenetic inheritance of telomere length obscures identification of causative PARN locus
Xing, C., & Garcia, C. K. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103685 · Cited by 10
Self-citationTomita, K., Caramori, G., Ito, K., Lim, S., Sano, H., Tohda, Y., Adcock, I. M., & Barnes, P. J. (2010) · The Open Pathology Journal · doi:10.2174/1874375701004010023 · Cited by 10
Sandbo, N. K. (2013) · Humana Press eBooks · doi:10.1007/978-1-62703-682-5_8 · Cited by 10
Familial Interstitial Pneumonia
Talbert, J. L., Schwartz, D. A., & Steele, M. P. (2014) · Clinical Pulmonary Medicine · doi:10.1097/cpm.0000000000000034 · Cited by 11
Matsubayashi, S., Ito, S., Araya, J., & Kuwano, K. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1079626 · Cited by 13
Metadata
- Authors
- 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.
- Affiliations
- *McDermott Center for Human Growth and Development,
- University of Washington Medical Center (US)
- Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine,
- The University of Texas Southwestern Medical Center (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2007-05
- Volume
- 104
- Issue
- 18
- Pages
- 7552-7557
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1855917
- OpenAlex
- W2115176808
- Cited by
- 894
- References
- 35
- Citations by year
- 2026: 24 · 2025: 35 · 2024: 30 · 2023: 35 · 2022: 49 · 2021: 62 · 2020: 54 · 2019: 43 · 2018: 45 · 2017: 41 · 2016: 40 · 2015: 61 · 2014: 50 · 2013: 50 · 2012: 53
- FWCI
- 47.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (P50CA75907, P50CA070907)
- National Center for Research Resources (K23RR020632)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Keywords
- idiopathic pulmonary fibrosis, telomerase reverse transcriptase, TERC, telomerase RNA, telomere shortening, genetic linkage, familial pulmonary fibrosis, missense mutations, frameshift mutation, interstitial lung disease, genetic susceptibility, chromosome 5
- MeSH terms
- Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Animals, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Pulmonary Fibrosis, Sequence Alignment, Telomere, Age of Onset, Telomerase
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