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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: callebaut i. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo.
Malivert L, Callebaut I, Rivera-Munoz P, Fischer A, Mornon JP, Revy P, de Villartay JP. Malivert L, et al. Among authors: callebaut i. Mol Cell Biol. 2009 Mar;29(5):1116-22. doi: 10.1128/MCB.01521-08. Epub 2008 Dec 22. Mol Cell Biol. 2009. PMID: 19103754 Free PMC article.
306 results