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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: kysela b. 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.
Impact of DNA ligase IV on the fidelity of end joining in human cells.
Smith J, Riballo E, Kysela B, Baldeyron C, Manolis K, Masson C, Lieber MR, Papadopoulo D, Jeggo P. Smith J, et al. Among authors: kysela b. Nucleic Acids Res. 2003 Apr 15;31(8):2157-67. doi: 10.1093/nar/gkg317. Nucleic Acids Res. 2003. PMID: 12682366 Free PMC article.
Identification of a DNA nonhomologous end-joining complex in bacteria.
Weller GR, Kysela B, Roy R, Tonkin LM, Scanlan E, Della M, Devine SK, Day JP, Wilkinson A, d'Adda di Fagagna F, Devine KM, Bowater RP, Jeggo PA, Jackson SP, Doherty AJ. Weller GR, et al. Among authors: kysela b. Science. 2002 Sep 6;297(5587):1686-9. doi: 10.1126/science.1074584. Science. 2002. PMID: 12215643
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.
Brand OJ, Barrett JC, Simmonds MJ, Newby PR, McCabe CJ, Bruce CK, Kysela B, Carr-Smith JD, Brix T, Hunt PJ, Wiersinga WM, Hegedüs L, Connell J, Wass JA, Franklyn JA, Weetman AP, Heward JM, Gough SC. Brand OJ, et al. Among authors: kysela b. Hum Mol Genet. 2009 May 1;18(9):1704-13. doi: 10.1093/hmg/ddp087. Epub 2009 Feb 25. Hum Mol Genet. 2009. PMID: 19244275
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.
Riballo E, Critchlow SE, Teo SH, Doherty AJ, Priestley A, Broughton B, Kysela B, Beamish H, Plowman N, Arlett CF, Lehmann AR, Jackson SP, Jeggo PA. Riballo E, et al. Among authors: kysela b. Curr Biol. 1999 Jul 1;9(13):699-702. doi: 10.1016/s0960-9822(99)80311-x. Curr Biol. 1999. PMID: 10395545 Free article.
Nonhomologous end joining and V(D)J recombination require an additional factor.
Dai Y, Kysela B, Hanakahi LA, Manolis K, Riballo E, Stumm M, Harville TO, West SC, Oettinger MA, Jeggo PA. Dai Y, et al. Among authors: kysela b. Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2462-7. doi: 10.1073/pnas.0437964100. Epub 2003 Feb 25. Proc Natl Acad Sci U S A. 2003. PMID: 12604777 Free PMC article.
55 results