The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Bone marrow failure and the telomeropathies
Open accessAbstract
Our understanding of the pathophysiology of aplastic anemia is undergoing significant revision, with implications for diagnosis and treatment. Constitutional and acquired disease is poorly delineated, as lesions in some genetic pathways cause stereotypical childhood syndromes and also act as risk factors for clinical manifestations in adult life. Telomere diseases are a prominent example of this relationship. Accelerated telomere attrition is the result of mutations in telomere repair genes and genes encoding components of the shelterin complex and related proteins. Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. Telomerase mutations also are etiologic in familial pulmonary fibrosis and cryptic liver disease. Detection of a telomere disease requires awareness in the clinic, appropriate laboratory testing of telomere content, and genetic sequencing. In treatment decisions, genetic screening of related donors for hematopoietic stem cell transplantation is critical, and androgen therapy may be helpful. Telomeres shorten normally with aging, as well as under environmental circumstances, with regenerative stress and oxidative damage. Telomere biology is complexly related to oncogenesis: telomere attrition is protective by enforcing senescence or apoptosis in cells with a long mitotic history, but telomere loss also can destabilize the genome by chromosome rearrangement and aneuploidy.
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Cites
Telomeres shorten during ageing of human fibroblasts
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Shelterin: the protein complex that shapes and safeguards human telomeres
de Lange, T. (2005) · Genes & Development · doi:10.1101/gad.1346005 · Cited by 3,056
Telomere Shortening and Tumor Formation by Mouse Cells Lacking Telomerase RNA
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
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Telomeres and telomerase in cancer
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Telomere length, stem cells and aging
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Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
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Self-citationExtensive allelic variation and ultrashort telomeres in senescent human cells
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Cited by
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
Zink, F., Stacey, S. N., Norddahl, G. L., Frigge, M. L., Magnusson, O. T., Jonsdottir, I., Thorgeirsson, T. E., Sigurdsson, A., Gudjonsson, S. A., Gudmundsson, J., et al. (2017) · Blood · doi:10.1182/blood-2017-02-769869 · Cited by 777
Guidelines for the diagnosis and management of adult aplastic anaemia
Killick, S. B., Bown, N., Cavenagh, J., Dokal, I., Foukaneli, T., Hill, A., Hillmen, P., Ireland, R., Kulasekararaj, A., Mufti, G., et al. (2016) · British Journal of Haematology · doi:10.1111/bjh.13853 · Cited by 749
Young, N. S. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1413485 · Cited by 722
Self-citationDanazol Treatment for Telomere Diseases
Townsley, D. M., Dumitriu, B., Liu, D., Biancotto, A., Weinstein, B., Chen, C., Hardy, N., Mihalek, A. D., Lingala, S., Kim, Y. J., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1515319 · Cited by 415
Self-citationLandscape of the complete RNA chemical modifications in the human 80S ribosome
Taoka, M., Nobe, Y., Yamaki, Y., Sato, K., Ishikawa, H., Izumikawa, K., Yamauchi, Y., Hirota, K., Nakayama, H., Takahashi, N., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky811 · Cited by 365
Metadata
- Authors
- Townsley, D. M., Dumitriu, B., & Young, N. S.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2014-10-30
- Volume
- 124
- Issue
- 18
- Pages
- 2775-2783
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2100031402
- Cited by
- 291
- References
- 33
- FWCI
- 16.52
- Type
- journal article
- Language
- en
- Open access
- green
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