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Page 1
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: stewart gs. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D. Stewart GS, et al. Cell. 2009 Feb 6;136(3):420-34. doi: 10.1016/j.cell.2008.12.042. Cell. 2009. PMID: 19203578 Free article.
Mediator of DNA damage checkpoint 1 (MDC1) regulates mitotic progression.
Townsend K, Mason H, Blackford AN, Miller ES, Chapman JR, Sedgwick GG, Barone G, Turnell AS, Stewart GS. Townsend K, et al. Among authors: stewart gs. J Biol Chem. 2009 Dec 4;284(49):33939-48. doi: 10.1074/jbc.M109.009191. Epub 2009 Oct 13. J Biol Chem. 2009. PMID: 19826003 Free PMC article.
USP7 is essential for maintaining Rad18 stability and DNA damage tolerance.
Zlatanou A, Sabbioneda S, Miller ES, Greenwalt A, Aggathanggelou A, Maurice MM, Lehmann AR, Stankovic T, Reverdy C, Colland F, Vaziri C, Stewart GS. Zlatanou A, et al. Among authors: stewart gs. Oncogene. 2016 Feb 25;35(8):965-76. doi: 10.1038/onc.2015.149. Epub 2015 May 11. Oncogene. 2016. PMID: 25961918
BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks.
Higgs MR, Reynolds JJ, Winczura A, Blackford AN, Borel V, Miller ES, Zlatanou A, Nieminuszczy J, Ryan EL, Davies NJ, Stankovic T, Boulton SJ, Niedzwiedz W, Stewart GS. Higgs MR, et al. Among authors: stewart gs. Mol Cell. 2015 Aug 6;59(3):462-77. doi: 10.1016/j.molcel.2015.06.007. Epub 2015 Jul 9. Mol Cell. 2015. PMID: 26166705 Free article.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. Harley ME, et al. Among authors: stewart gs. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23. Nat Genet. 2016. PMID: 26595769 Free PMC article.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: stewart gs. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
226 results