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A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I, Hojny J, Michalkova R, Kodet O, Krkavcova E, Hajkova N, Nemejcova K, Bartu M, Jaksa R, Dura M, Kanwal M, Martinikova AS, Macurek L, Zemankova P, Kleibl Z, Dundr P. Ticha I, et al. Among authors: kleibl z. Sci Rep. 2019 Nov 19;9(1):17050. doi: 10.1038/s41598-019-53636-x. Sci Rep. 2019. PMID: 31745173 Free PMC article.
Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.
Sevcik J, Falk M, Macurek L, Kleiblova P, Lhota F, Hojny J, Stefancikova L, Janatova M, Bartek J, Stribrna J, Hodny Z, Jezkova L, Pohlreich P, Kleibl Z. Sevcik J, et al. Among authors: kleibl z. Cell Signal. 2013 May;25(5):1186-93. doi: 10.1016/j.cellsig.2013.02.008. Epub 2013 Feb 14. Cell Signal. 2013. PMID: 23416467
Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint.
Kleiblova P, Shaltiel IA, Benada J, Ševčík J, Pecháčková S, Pohlreich P, Voest EE, Dundr P, Bartek J, Kleibl Z, Medema RH, Macurek L. Kleiblova P, et al. Among authors: kleibl z. J Cell Biol. 2013 May 13;201(4):511-21. doi: 10.1083/jcb.201210031. Epub 2013 May 6. J Cell Biol. 2013. PMID: 23649806 Free PMC article.
102 results