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RTEL1: functions of a disease-associated helicase.
Vannier JB, Sarek G, Boulton SJ. Vannier JB, et al. Among authors: sarek g. Trends Cell Biol. 2014 Jul;24(7):416-25. doi: 10.1016/j.tcb.2014.01.004. Epub 2014 Feb 25. Trends Cell Biol. 2014. PMID: 24582487 Review.
CDK phosphorylation of TRF2 controls t-loop dynamics during the cell cycle.
Sarek G, Kotsantis P, Ruis P, Van Ly D, Margalef P, Borel V, Zheng XF, Flynn HR, Snijders AP, Chowdhury D, Cesare AJ, Boulton SJ. Sarek G, et al. Nature. 2019 Nov;575(7783):523-527. doi: 10.1038/s41586-019-1744-8. Epub 2019 Nov 13. Nature. 2019. PMID: 31723267 Free PMC article.
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. Ballew BJ, et al. Among authors: sarek g. PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009516 Free PMC article.
21 results