Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell divisio...

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Bibliographic Details
Main Authors: Deng, Zhong, Glousker, Galina, Molczan, Aliah, Fox, Alan J., Lamm, Noa, Dheekollu, Jayaraju, Weizman, Orr-El, Schertzer, Michael, Wang, Zhuo, Vladimirova, Olga, Schug, Jonathan, Aker, Memet, Londoño-Vallejo, Arturo, Kaestner, Klaus H., Lieberman, Paul M., Tzfati, Yehuda
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2013
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PNAS Plus
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3767560/
https://ncbi.nlm.nih.gov/pubmed/23959892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1300600110
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