The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
The molecular genetics of the telomere biology disorders
Open accessAbstract
The importance of telomere function for human health is exemplified by a collection of Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies, or syndromes of telomere shortening. Collectively, the TBDs cover a spectrum of conditions from multisystem disease presenting in infancy to isolated disease presentations in adulthood, most notably idiopathic pulmonary fibrosis. Eleven genes have been found mutated in the TBDs to date, each of which is linked to some aspect of telomere maintenance. This review summarizes the molecular defects that result from mutations in these genes, highlighting recent advances, including the addition of PARN to the TBD gene family and the discovery of heterozygous mutations in RTEL1 as a cause of familial pulmonary fibrosis.
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Cites
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Cited by
Mirabello, L., Zhu, B., Koster, R., Karlins, E., Dean, M., Yeager, M., Gianferante, M., Spector, L. G., Morton, L. M., Karyadi, D., et al. (2020) · JAMA Oncology · doi:10.1001/jamaoncol.2020.0197 · Cited by 243
Beginning at the ends: telomeres and human disease
Savage, S. A. (2018) · F1000Research · doi:10.12688/f1000research.14068.1 · Cited by 124
Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells
Nagpal, N., Wang, J., Zeng, J., Lo, E., Moon, D. H., Luk, K., Braun, R. O., Burroughs, L. M., Keel, S. B., Reilly, C., et al. (2020) · Cell Stem Cell · doi:10.1016/j.stem.2020.03.016 · Cited by 105
Sławińska, N., & Krupa, R. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020590 · Cited by 68
Metadata
- Authors
- Bertuch, A. A.
- Venue
- RNA Biology
- Publisher
- Informa UK Limited
- Published
- 2016-05-27
- Volume
- 13
- Issue
- 8
- Pages
- 696-706
- ISSN
- 1547-6286 (ISSN-L)
- 1555-8584
- OpenAlex
- W2398118418
- Cited by
- 169
- References
- 42
- FWCI
- 8.82
- Type
- journal article
- Language
- en
- Open access
- bronze
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