The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
Open accessAbstract
The two genes mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase complex responsible for maintaining the ends of chromosomes in stem cells and in the germ line. In reviewing the mutation profile that is found in DC, we describe 9 novel mutations in the DKC1 gene and 3 novel TERC mutations responsible for the X-linked and autosomal dominant forms of the disease, respectively, but find that two thirds of the families do not have mutations in either of these genes. In a significant subset of these uncharacterized families, the index case presents with severe disease previously defined as the Hoyeraal Hreidarsson (HH) syndrome. The diverse clinical phenotype seen in patients with X-linked DC is not explained by the different amino acid substitutions: Presentation of the recurrent A353V substitution ranges from classic DC to the severe HH variant. However, we do see that patients with HH have significantly shorter telomeres than those with a relatively mild presentation. In the new families described with TERC mutations, there is further evidence of disease anticipation associated with shorter telomeres in the younger generations. This study highlights the considerable genetic and phenotypic diversity of DC.
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Cites
Telomere Shortening and Tumor Formation by Mouse Cells Lacking Telomerase RNA
Blasco, M. A., Lee, H.-W., Hande, M. P., Samper, E., Lansdorp, P. M., DePinho, R. A., & Greider, C. W. (1997) · Cell · doi:10.1016/s0092-8674(01)80006-4 · Cited by 2,108
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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-citationMutations 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
Chan, S. R. W. L., & Blackburn, E. H. (2004) · Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences · doi:10.1098/rstb.2003.1370 · Cited by 595
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-citationA Box H/ACA Small Nucleolar RNA-Like Domain at the Human Telomerase RNA 3′ End
Mitchell, J. R., Cheng, J., & Collins, K. (1999) · Molecular and Cellular Biology · doi:10.1128/mcb.19.1.567 · Cited by 510
Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., & Dokal, I. (2004) · Nature Genetics · doi:10.1038/ng1346 · Cited by 461
Self-citationMutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S. (2003) · Blood · doi:10.1182/blood-2003-01-0335 · Cited by 301
Fogarty, P. F., Yamaguchi, H., Wiestner, A., Baerlocher, G. M., Sloand, E., Zeng, W. S., Read, E. J., Lansdorp, P. M., & Young, N. S. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14797-6 · Cited by 277
Cited by
Cancer in dyskeratosis congenita
Alter, B. P., Giri, N., Savage, S. A., & Rosenberg, P. S. (2009) · Blood · doi:10.1182/blood-2008-12-192880 · Cited by 478
Savage, S. A., Giri, N., Baerlocher, G. M., Orr, N., Lansdorp, P. M., & Alter, B. P. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.004 · Cited by 414
Landscape 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
Alter, B. P., Baerlocher, G. M., Savage, S. A., Chanock, S. J., Weksler, B. B., Willner, J. P., Peters, J. A., Giri, N., & Lansdorp, P. M. (2007) · Blood · doi:10.1182/blood-2007-02-075598 · Cited by 356
Venteicher, A. S., Meng, Z., Mason, P. J., Veenstra, T. D., & Artandi, S. E. (2008) · Cell · doi:10.1016/j.cell.2008.01.019 · Cited by 329
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Metadata
- Authors
- Vulliamy, T. J., Marrone, A., Knight, S. W., Walne, A., Mason, P. J., & Dokal, I.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2006-04-01
- Volume
- 107
- Issue
- 7
- Pages
- 2680-2685
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2116490988
- Cited by
- 345
- References
- 11
- FWCI
- 9.85
- Type
- journal article
- Language
- en
- Open access
- bronze
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