The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
The genetics of dyskeratosis congenita
Open accessAbstract
Dyskeratosis congenita(DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic abnormalities. The disease is heterogeneous at the genetic and clinical levels. Determination of the genetic basis of DC has established that the disease is caused by a number of genes, all of which encode products involved in telomere maintenance, either as part of telomerase or as part of the shelterin complex that caps and protects telomeres. There is overlap at the genetic and clinical levels with other, more common conditions, including aplastic anemia (AA), pulmonary fibrosis (PF)and liver cirrhosis. Although part of the spectrum of disorders known to be associated with DC it has emerged that mutations in telomere maintenance genes can lead to the development of AA and PF in the absence of other DC features. Here we discuss the genetics of DC and its relationship to disease presentation.
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Cites
Specific Association of Human Telomerase Activity with Immortal Cells and Cancer
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“Curiously TERC is widely expressed while TERT expression in humans is restricted to embryonic cells, stem cells, lymphocytes, and cancer cells(45, 46).”
BackgroundAccelerated telomere shortening in response to life stress
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Telomere Shortening and Tumor Formation by Mouse Cells Lacking Telomerase RNA
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Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
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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-citationAdult-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 1×
“At the same time a second group of investigators, using linkage studies on 2 large families with multiple cases of PF, mapped the responsible gene to interval 5p15(72).”
BackgroundTelomeres and telomerase in cancer
Artandi, S. E., & DePinho, R. A. (2010) · Carcinogenesis · doi:10.1093/carcin/bgp268 · Cited by 823
Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
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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
Cited by
CTC1 Mutations in a patient with dyskeratosis congenita
Keller, R. B., Gagne, K. E., Usmani, G. N., Asdourian, G. K., Williams, D. A., Hofmann, I., & Agarwal, S. (2012) · Pediatric Blood & Cancer · doi:10.1002/pbc.24193 · Cited by 138
The wide-ranging clinical implications of the Short Telomere Syndromes
Barbaro, P. M., Ziegler, D. S., & Reddel, R. R. (2016) · Internal Medicine Journal · doi:10.1111/imj.12868 · Cited by 40
Metadata
- Authors
- Mason, P. J., & Bessler, M.
- Venue
- Cancer Genetics
- Publisher
- Elsevier BV
- Published
- 2011-12
- Volume
- 204
- Issue
- 12
- Pages
- 635-645
- ISSN
- 2210-7762 (ISSN-L)
- OpenAlex
- W1977487937
- Cited by
- 161
- References
- 31
- FWCI
- 9.82
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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