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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study; Lord CJ, Vissers LE, de Vries BB. Jansen S, et al. Among authors: lord cj. Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343630 Free PMC article.
A chemical inhibitor of PPM1D that selectively kills cells overexpressing PPM1D.
Rayter S, Elliott R, Travers J, Rowlands MG, Richardson TB, Boxall K, Jones K, Linardopoulos S, Workman P, Aherne W, Lord CJ, Ashworth A. Rayter S, et al. Among authors: lord cj. Oncogene. 2008 Feb 14;27(8):1036-44. doi: 10.1038/sj.onc.1210729. Epub 2007 Aug 13. Oncogene. 2008. PMID: 17700519
Resistance to therapy caused by intragenic deletion in BRCA2.
Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, Boyd J, Reis-Filho JS, Ashworth A. Edwards SL, et al. Among authors: lord cj. Nature. 2008 Feb 28;451(7182):1111-5. doi: 10.1038/nature06548. Epub 2008 Feb 10. Nature. 2008. PMID: 18264088
Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors.
Mendes-Pereira AM, Martin SA, Brough R, McCarthy A, Taylor JR, Kim JS, Waldman T, Lord CJ, Ashworth A. Mendes-Pereira AM, et al. Among authors: lord cj. EMBO Mol Med. 2009 Sep;1(6-7):315-22. doi: 10.1002/emmm.200900041. EMBO Mol Med. 2009. PMID: 20049735 Free PMC article.
Searching for synthetic lethality in cancer.
Brough R, Frankum JR, Costa-Cabral S, Lord CJ, Ashworth A. Brough R, et al. Among authors: lord cj. Curr Opin Genet Dev. 2011 Feb;21(1):34-41. doi: 10.1016/j.gde.2010.10.009. Epub 2011 Jan 20. Curr Opin Genet Dev. 2011. PMID: 21255997 Review.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Among authors: lord cj. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
255 results