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Page 1
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: katan m. 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.
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F. Hinkes B, et al. Among authors: katan m. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086182
Characterization of phospholipase C gamma enzymes with gain-of-function mutations.
Everett KL, Bunney TD, Yoon Y, Rodrigues-Lima F, Harris R, Driscoll PC, Abe K, Fuchs H, de Angelis MH, Yu P, Cho W, Katan M. Everett KL, et al. Among authors: katan m. J Biol Chem. 2009 Aug 21;284(34):23083-93. doi: 10.1074/jbc.M109.019265. Epub 2009 Jun 16. J Biol Chem. 2009. PMID: 19531496 Free PMC article.
630 results