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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA. Ogi T, et al. Among authors: walker s. PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8. PLoS Genet. 2012. PMID: 23144622 Free PMC article.
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: walker s. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776. Nat Genet. 2011. PMID: 21358633
Chromosome breakage after G2 checkpoint release.
Deckbar D, Birraux J, Krempler A, Tchouandong L, Beucher A, Walker S, Stiff T, Jeggo P, Löbrich M. Deckbar D, et al. Among authors: walker s. J Cell Biol. 2007 Mar 12;176(6):749-55. doi: 10.1083/jcb.200612047. J Cell Biol. 2007. PMID: 17353355 Free PMC article.
DNA-PK autophosphorylation facilitates Artemis endonuclease activity.
Goodarzi AA, Yu Y, Riballo E, Douglas P, Walker SA, Ye R, Härer C, Marchetti C, Morrice N, Jeggo PA, Lees-Miller SP. Goodarzi AA, et al. EMBO J. 2006 Aug 23;25(16):3880-9. doi: 10.1038/sj.emboj.7601255. Epub 2006 Jul 27. EMBO J. 2006. PMID: 16874298 Free PMC article.
5,371 results