The DOI matches its Crossref record; 26 of the 27 references it cites were found in a registry or an index.
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
Open accessAbstract
Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC). Because of the possibility that TERC mutations might underlie seemingly acquired forms of bone marrow failure, we examined blood samples from a large number of patients with aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplasia (MDS). Only 3 of 210 cases showed heterozygous TERC mutations: both nucleotide 305 (n305) (G>A) and n322 (G>A) were within the conserved region (CR) 4–CR5 domain; n450 (G>A) was localized to the boxH/ACA domain. However, only one patient (with a mutation at n305 [G>A]) had clinical characteristics suggesting DKC; her blood cells contained short telomeres and her sister also suffered from bone marrow failure. Another 21 patients with short telomeres did not show TERC mutations. Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS.
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“Around 9% of patients with acquired aplastic anaemia carry mutations in the telomerase components TERC, TERT and DKC1, which are also mutated in inherited aplastic anaemia, as in dyskeratosis congenita74,75.”
From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [74]
Experimental — accuracy not yet measuredIn the citing paper
“In addition, 3–5% of aplastic anaemia patients carry mutant TERT and TR genes41,72,73.”
From The telomere syndromes (2012) · cites this paper as [73]
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Cites
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A telomerase component is defective in the human disease dyskeratosis congenita
Mitchell, J. R., Wood, E., & Collins, K. (1999) · Nature · doi:10.1038/990141 · Cited by 1,168
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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
Variation is the spice of life
Kruglyak, L., & Nickerson, D. A. (2001) · Nature Genetics · doi:10.1038/85776 · Cited by 927
Human Telomerase and Its Regulation
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Dyskeratosis congenita in all its forms
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Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry
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Research works printed but not linked: 1
- Kawar NM, Ivanovich J, Rothbaum RJ, et al. Human telomerase RNA mutation in patients with bone marrow failure [abstract]. Blood. 2002;100: 232a.
Cited by
Sorted by citations
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-citationAubert, G., & Lansdorp, P. M. (2008) · Physiological Reviews · doi:10.1152/physrev.00026.2007 · Cited by 1,188
Self-citationArmanios, M., & Blackburn, E. H. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3246 · Cited by 982
Current concepts in the pathophysiology and treatment of aplastic anemia
Young, N. S., Calado, R. T., & Scheinberg, P. (2006) · Blood · doi:10.1182/blood-2006-03-010777 · Cited by 888
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
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Metadata
- Authors
- Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S.
- Affiliations
- National Institutes of Health (US)
- From the Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD; Terry Fox Laboratory, BC Cancer Research Center, Vancouver; Department of Medicine, University of British Columbia, Vancouver, Canada; and the Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institutes, Advanced Technology Center, Gaithersburg, MD
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2003-08-01
- Volume
- 102
- Issue
- 3
- Pages
- 916-918
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2085418826
- Cited by
- 301
- References
- 27
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 7 · 2023: 11 · 2022: 5 · 2021: 4 · 2020: 13 · 2019: 9 · 2018: 16 · 2017: 19 · 2016: 12 · 2015: 14 · 2014: 19 · 2013: 13 · 2012: 14
- FWCI
- 9.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- telomerase RNA, TERC mutations, aplastic anemia, myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria, dyskeratosis congenita, bone marrow failure, short telomeres, heterozygous mutation
- MeSH terms
- Anemia, Aplastic, Hemoglobinuria, Paroxysmal, Heterozygote, Humans, Mutation, Myelodysplastic Syndromes, RNA, Case-Control Studies, Telomerase, Dyskeratosis Congenita, Polymorphism, Single Nucleotide
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