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Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Behjati S, Tarpey PS, Sheldon H, Martincorena I, Van Loo P, Gundem G, Wedge DC, Ramakrishna M, Cooke SL, Pillay N, Vollan HKM, Papaemmanuil E, Koss H, Bunney TD, Hardy C, Joseph OR, Martin S, Mudie L, Butler A, Teague JW, Patil M, Steers G, Cao Y, Gumbs C, Ingram D, Lazar AJ, Little L, Mahadeshwar H, Protopopov A, Al Sannaa GA, Seth S, Song X, Tang J, Zhang J, Ravi V, Torres KE, Khatri B, Halai D, Roxanis I, Baumhoer D, Tirabosco R, Amary MF, Boshoff C, McDermott U, Katan M, Stratton MR, Futreal PA, Flanagan AM, Harris A, Campbell PJ. Behjati S, et al. Among authors: bunney td. Nat Genet. 2014 Apr;46(4):376-379. doi: 10.1038/ng.2921. Epub 2014 Mar 16. Nat Genet. 2014. PMID: 24633157 Free PMC article.
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: bunney td. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.
Dysfunction of phospholipase Cγ in immune disorders and cancer.
Koss H, Bunney TD, Behjati S, Katan M. Koss H, et al. Among authors: bunney td. Trends Biochem Sci. 2014 Dec;39(12):603-11. doi: 10.1016/j.tibs.2014.09.004. Epub 2014 Oct 30. Trends Biochem Sci. 2014. PMID: 25456276 Review.
51 results