The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification
Abstract
Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature aging and increased tumor susceptibility. The DKC1 protein binds to the box H + ACA small nucleolar RNAs and the RNA component of telomerase. Here we show that hypomorphic Dkc1 mutant ( Dkc1 m ) mice recapitulate in the first and second generations (G1 and G2) the clinical features of DC. Dkc1 m cells from G1 and G2 mice were impaired in ribosomal RNA pseudouridylation before the onset of disease. Reductions of telomere length in Dkc1 m mice became evident only in later generations. These results suggest that deregulated ribosome function is important in the initiation of DC, whereas telomere shortening may modify and/or exacerbate DC.
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Cites
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
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Cited by
Boisvert, F.-M., van Koningsbruggen, S., Navascués, J., & Lamond, A. I. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2184 · Cited by 1,619
RNA regulons: coordination of post-transcriptional events
Keene, J. D. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2111 · Cited by 1,321
Role of RNA modifications in cancer
Barbieri, I., & Kouzarides, T. (2020) · Nature Reviews Cancer · doi:10.1038/s41568-020-0253-2 · Cited by 1,312
Active-Site Inhibitors of mTOR Target Rapamycin-Resistant Outputs of mTORC1 and mTORC2
Feldman, M. E., Apsel, B., Uotila, A., Loewith, R., Knight, Z. A., Ruggero, D., & Shokat, K. M. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000038 · Cited by 1,082
Self-citationTelomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging
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Metadata
- Authors
- Ruggero, D., Grisendi, S., Piazza, F., Rego, E., Mari, F., Rao, P. H., Cordon-Cardo, C., & Pandolfi, P. P.
- Venue
- Science
- Published
- 2003-01-10
- Volume
- 299
- Issue
- 5604
- Pages
- 259-262
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2126360553
- Cited by
- 435
- References
- 22
- FWCI
- 16.10
- Type
- journal article
- Language
- en
- Open access
- closed
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- Ruggero, D., Grisendi, S., Piazza, F., Rego, E., Mari, F., Rao, P. H., Cordon-Cardo, C., & Pandolfi, P. P. (2003). Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification. Science. https://doi.org/10.1126/science.1079447
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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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