The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Constitutional telomerase mutations are genetic risk factors for cirrhosis
Open accessAbstract
Some patients with liver disease progress to cirrhosis, but the risk factors for cirrhosis development are unknown. Dyskeratosis congenita, an inherited bone marrow failure syndrome associated with mucocutaneous anomalies, pulmonary fibrosis, and cirrhosis, is caused by germline mutations of genes in the telomerase complex. We examined whether telomerase mutations also occurred in sporadic cirrhosis. In all, 134 patients with cirrhosis of common etiologies treated at the Liver Research Institute, University of Arizona, between May 2008 and July 2009, and 528 healthy subjects were screened for variation in the TERT and TERC genes by direct sequencing; an additional 1,472 controls were examined for the most common genetic variation observed in patients. Telomere length of leukocytes was measured by quantitative polymerase chain reaction. Functional effects of genetic changes were assessed by transfection of mutation-containing vectors into telomerase-deficient cell lines, and telomerase activity was measured in cell lysates. Nine of the 134 patients with cirrhosis (7%) carried a missense variant in TERT , resulting in a cumulative carrier frequency significantly higher than in controls ( P = 0.0009). One patient was homozygous and eight were heterozygous. The allele frequency for the most common missense TERT variant was significantly higher in patients with cirrhosis (2.6%) than in 2,000 controls (0.7%; P = 0.0011). One additional patient carried a TERC mutation. The mean telomere length of leukocytes in patients with cirrhosis, including six mutant cases, was shorter than in age-matched controls ( P = 0.0004). Conclusion: Most TERT gene variants reduced telomerase enzymatic activity in vitro . Loss-of-function telomerase gene variants associated with short telomeres are risk factors for sporadic cirrhosis. (Hepatology 2011;)
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Citations
Cites
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
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
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature · doi:10.1038/35096585 · Cited by 960
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×
“In agreement with our findings, in families with idiopathic pulmonary fibrosis and telomerase mutations, short telomeres have been hypothesized to limit pneumocyte proliferation, causing loss of alveolar cells and, secondarily, fibrosis.(12,13) Alternatively, in cirrhosis, short telomeres may affect stellate cell diff…”
BackgroundResultShort 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
Rates and risk factors of liver fibrosis progression in patients with chronic hepatitis c
Poynard, T., Ratziu, V., Charlotte, F., Goodman, Z., McHutchison, J., & Albrecht, J. (2001) · Journal of Hepatology · doi:10.1016/s0168-8278(00)00097-0 · Cited by 749
Telomere length, stem cells and aging
Blasco, M. A. (2007) · Nature Chemical Biology · doi:10.1038/nchembio.2007.38 · Cited by 747
Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
Yamaguchi, H., Calado, R. T., Ly, H., Kajigaya, S., Baerlocher, G. M., Chanock, S. J., Lansdorp, P. M., & Young, N. S. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa042980 · Cited by 723
Self-citationProtein Composition of Catalytically Active Human Telomerase from Immortal Cells
Cohen, S. B., Graham, M. E., Lovrecz, G. O., Bache, N., Robinson, P. J., & Reddel, R. R. (2007) · Science · doi:10.1126/science.1138596 · Cited by 669
Dyskeratosis congenita in all its forms
Dokal, I. (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.02109.x · Cited by 575
Cited by
Llovet, J. M., Zucman-Rossi, J., Pikarsky, E., Sangro, B., Schwartz, M., Sherman, M., & Gores, G. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.18 · Cited by 2,531
Nault, J. C., Mallet, M., Pilati, C., Calderaro, J., Bioulac-Sage, P., Laurent, C., Laurent, A., Cherqui, D., Balabaud, C., & Zucman-Rossi, J. (2013) · Nature Communications · doi:10.1038/ncomms3218 · Cited by 695
Distributed hepatocytes expressing telomerase repopulate the liver in homeostasis and injury
Lin, S., Nascimento, E. M., Gajera, C. R., Chen, L., Neuhöfer, P., Garbuzov, A., Wang, S., & Artandi, S. E. (2018) · Nature · doi:10.1038/s41586-018-0004-7 · Cited by 241
Telomere Dynamics in Mice and Humans
Calado, R. T., & Dumitriu, B. (2013) · Seminars in Hematology · doi:10.1053/j.seminhematol.2013.03.030 · Cited by 214
Self-citationSenescence in chronic liver disease: Is the future in aging?
Aravinthan, A. D., & Alexander, G. J. M. (2016) · Journal of Hepatology · doi:10.1016/j.jhep.2016.05.030 · Cited by 174
Metadata
- Authors
- Calado, R. T., Brudno, J., Mehta, P., Kovacs, J. J., Wu, C., Zago, M. A., Chanock, S. J., Boyer, T. D., & Young, N. S.
- Venue
- Hepatology
- Published
- 2011-05
- Volume
- 53
- Issue
- 5
- Pages
- 1600-1607
- ISSN
- 0270-9139 (ISSN-L)
- OpenAlex
- W2037806710
- Cited by
- 188
- References
- 21
- FWCI
- 8.67
- Type
- journal article
- Language
- en
- Open access
- green
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- Calado, R. T., Brudno, J., Mehta, P., Kovacs, J. J., Wu, C., Zago, M. A., Chanock, S. J., Boyer, T. D., & Young, N. S. (2011). Constitutional telomerase mutations are genetic risk factors for cirrhosis. Hepatology. https://doi.org/10.1002/hep.24173
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