Open Access
New England Journal of Medicine, volume 356, issue 13, pages 1317-1326
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Armanios Mary
1
,
Chen Julian
2
,
Cogan Joy
3
,
Alder Jonathan K.
4
,
Ingersoll Roxann G.
4
,
Markin Cheryl
3
,
Lawson William S.
5, 6
,
Swanson Maurice S
7
,
Vulto Irma
8
,
Phillips John
3
,
Lansdorp Peter M.
8
,
Greider Carol W.
4
,
LOYD JAMES E.
3
2
CLAS-NS: Life Sciences, School of (SOLS)
3
Vanderbilt University,
5
VA Medical Center
6
vanderbilt University
7
Arizona State University**
|
8
, University of British Columbia
|
Publication type: Journal Article
Publication date: 2007-03-28
Journal:
New England Journal of Medicine
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 158.5
ISSN: 00284793, 15334406
General Medicine
Abstract
BACKGROUND
Idiopathic pulmonary fibrosis is progressive and often fatal; causes of familial clustering of the disease are unknown. Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.
METHODS
To test the hypothesis that familial idiopathic pulmonary fibrosis may be caused by short telomeres, we screened 73 probands from the Vanderbilt Familial Pulmonary Fibrosis Registry for mutations in hTERT and hTR.
RESULTS
Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres. Asymptomatic subjects with mutant telomerase also had short telomeres, suggesting that they may be at risk for the disease. We did not identify any of the classic features of dyskeratosis congenita in five of the six families.
CONCLUSIONS
Mutations in the genes encoding telomerase components can appear as familial idiopathic pulmonary fibrosis. Our findings support the idea that pathways leading to telomere shortening are involved in the pathogenesis of this disease.
Citations by journals
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Citations by publishers
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Elsevier
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Elsevier
210 publications, 20.69%
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Springer Nature
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Springer Nature
110 publications, 10.84%
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Wiley
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69 publications, 6.8%
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48 publications, 4.73%
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36 publications, 3.55%
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Taylor & Francis
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28 publications, 2.76%
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25 publications, 2.46%
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23 publications, 2.27%
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21 publications, 2.07%
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Wolters Kluwer Health
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20 publications, 1.97%
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Public Library of Science (PLoS)
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Public Library of Science (PLoS)
19 publications, 1.87%
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Oxford University Press
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19 publications, 1.87%
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American Physiological Society
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17 publications, 1.67%
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Annual Reviews
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14 publications, 1.38%
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BMJ
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13 publications, 1.28%
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Proceedings of the National Academy of Sciences (PNAS)
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Proceedings of the National Academy of Sciences (PNAS)
13 publications, 1.28%
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NEJM Group
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9 publications, 0.89%
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8 publications, 0.79%
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EMBO press
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4 publications, 0.39%
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- We do not take into account publications that without a DOI.
- Statistics recalculated only for publications connected to researchers, organizations and labs registered on the platform.
- Statistics recalculated weekly.
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Armanios M. et al. Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis // New England Journal of Medicine. 2007. Vol. 356. No. 13. pp. 1317-1326.
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Armanios M., Chen J., Cogan J., Alder J. K., Ingersoll R. G., Markin C., Lawson W. S., Swanson M. S., Vulto I., Phillips J., Lansdorp P. M., Greider C. W., LOYD J. E. Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis // New England Journal of Medicine. 2007. Vol. 356. No. 13. pp. 1317-1326.
Cite this
RIS
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TY - JOUR
DO - 10.1056/NEJMoa066157
UR - https://doi.org/10.1056%2FNEJMoa066157
TI - Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
T2 - New England Journal of Medicine
AU - Armanios, Mary
AU - Chen, Julian
AU - Cogan, Joy
AU - Alder, Jonathan K.
AU - Ingersoll, Roxann G.
AU - Markin, Cheryl
AU - Lawson, William S.
AU - Swanson, Maurice S
AU - Vulto, Irma
AU - Phillips, John
AU - Lansdorp, Peter M.
AU - Greider, Carol W.
AU - LOYD, JAMES E.
PY - 2007
DA - 2007/03/28 00:00:00
PB - NEJM Group
SP - 1317-1326
IS - 13
VL - 356
SN - 0028-4793
SN - 1533-4406
ER -
Cite this
BibTex
Copy
@article{2007_Armanios,
author = {Mary Armanios and Julian Chen and Joy Cogan and Jonathan K. Alder and Roxann G. Ingersoll and Cheryl Markin and William S. Lawson and Maurice S Swanson and Irma Vulto and John Phillips and Peter M. Lansdorp and Carol W. Greider and JAMES E. LOYD},
title = {Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis},
journal = {New England Journal of Medicine},
year = {2007},
volume = {356},
publisher = {NEJM Group},
month = {mar},
url = {https://doi.org/10.1056%2FNEJMoa066157},
number = {13},
pages = {1317--1326},
doi = {10.1056/NEJMoa066157}
}
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Armanios, Mary, et al. “Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis.” New England Journal of Medicine, vol. 356, no. 13, Mar. 2007, pp. 1317-1326. https://doi.org/10.1056%2FNEJMoa066157.