The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Dyskeratosis Congenita
Abstract
Dyskeratosis congenita (DC) is a multisystem inherited syndrome exhibiting marked clinical and genetic heterogeneity. In its classic form, it is characterized by mucocutaneous abnormalities, BM failure, and a predisposition to cancer. BM failure is the principal cause of premature mortality. Studies over the last 15 years have led to significant advances, with 8 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, and TCAB1) having been characterized. Seven of these are important in telomere maintenance either because they encode components of the telomerase enzyme complex (DKC1, TERC, TERT, NOP10, NHP2, and TCAB1) or the shelterin complex (TINF2). DC is therefore principally a disease of defective telomere maintenance and patients usually have very short telomeres. The genetic advances have led to the unification of DC with several other disorders, including the severe multisystem disorders Hoyeraal-Hreidarsson and Revesz syndromes, as well as a subset of patients with aplastic anemia, myelodysplasia, leukemia, and idiopathic pulmonary fibrosis. This wide spectrum of diseases ranging from classic DC to aplastic anemia can be regarded as disorders of defective telomere maintenance—“the telomereopathies.” These advances have increased our understanding of normal hematopoiesis and highlighted the important role of telomerase and telomeres in human biology. They are also facilitating the diagnosis (especially when presentation is atypical) and management of DC.
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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
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
Self-citationThe 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
Self-citationTelomere 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
Protein 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
Self-citationVulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., & Dokal, I. (2004) · Nature Genetics · doi:10.1038/ng1346 · Cited by 461
Self-citationArmanios, M., Chen, J.-L., Chang, Y.-P. C., Brodsky, R. A., Hawkins, A., Griffin, C. A., Eshleman, J. R., Cohen, A. R., Chakravarti, A., Hamosh, A., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508124102 · Cited by 452
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Cited by
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
Self-citationBiomarkers of cellular senescence and skin aging
Wang, A. S., & Dreesen, O. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00247 · Cited by 404
Telomerase at the intersection of cancer and aging
Bernardes de Jesus, B., & Blasco, M. A. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.06.007 · Cited by 227
Telomeropathies: An emerging spectrum disorder
Holohan, B., Wright, W. E., & Shay, J. W. (2014) · Journal of Cell Biology · doi:10.1083/jcb.201401012 · Cited by 175
Telomere shortening in neurological disorders: an abundance of unanswered questions
Eitan, E., Hutchison, E. R., & Mattson, M. P. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2014.02.010 · Cited by 158
Metadata
- Authors
- Dokal, I.
- Venue
- Hematology
- Publisher
- American Society of Hematology
- Published
- 2011-12-10
- Volume
- 2011
- Issue
- 1
- Pages
- 480-486
- ISSN
- 1520-4383 (ISSN-L)
- 1520-4391
- OpenAlex
- W4244817354
- Cited by
- 266
- References
- 21
- FWCI
- 11.56
- Type
- journal article
- Language
- en
- Open access
- closed
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