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Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Bicknell LS, et al. Among authors: stiff t. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776. Nat Genet. 2011. PMID: 21358633
Nbs1 is required for ATR-dependent phosphorylation events.
Stiff T, Reis C, Alderton GK, Woodbine L, O'Driscoll M, Jeggo PA. Stiff T, et al. EMBO J. 2005 Jan 12;24(1):199-208. doi: 10.1038/sj.emboj.7600504. Epub 2004 Dec 16. EMBO J. 2005. PMID: 15616588 Free PMC article.
The limitations of the G1-S checkpoint.
Deckbar D, Stiff T, Koch B, Reis C, Löbrich M, Jeggo PA. Deckbar D, et al. Among authors: stiff t. Cancer Res. 2010 Jun 1;70(11):4412-21. doi: 10.1158/0008-5472.CAN-09-3198. Epub 2010 May 11. Cancer Res. 2010. PMID: 20460507
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