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TDP1 and PARP1 deficiency are cytotoxic to rhabdomyosarcoma cells.
Fam HK, Walton C, Mitra SA, Chowdhury M, Osborne N, Choi K, Sun G, Wong PC, O'Sullivan MJ, Turashvili G, Aparicio S, Triche TJ, Bond M, Pallen CJ, Boerkoel CF. Fam HK, et al. Among authors: choi k. Mol Cancer Res. 2013 Oct;11(10):1179-92. doi: 10.1158/1541-7786.MCR-12-0575. Epub 2013 Aug 2. Mol Cancer Res. 2013. PMID: 23913164
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, Dionis KY, Zonana J, Keller K, Stenzel P, Mayfield C, Lücke T, Bokenkamp A, Marra MA, van Lohuizen M, Lewis DB, Shaw C, Boerkoel CF. Baradaran-Heravi A, et al. Among authors: choi k. Hum Mol Genet. 2012 Jun 1;21(11):2572-87. doi: 10.1093/hmg/dds083. Epub 2012 Feb 28. Hum Mol Genet. 2012. PMID: 22378147 Free PMC article.
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF. Hirano R, et al. Among authors: choi k. EMBO J. 2007 Nov 14;26(22):4732-43. doi: 10.1038/sj.emboj.7601885. Epub 2007 Oct 18. EMBO J. 2007. PMID: 17948061 Free PMC article.
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
Baradaran-Heravi A, Raams A, Lubieniecka J, Cho KS, DeHaai KA, Basiratnia M, Mari PO, Xue Y, Rauth M, Olney AH, Shago M, Choi K, Weksberg RA, Nowaczyk MJ, Wang W, Jaspers NG, Boerkoel CF. Baradaran-Heravi A, et al. Among authors: choi k. Am J Med Genet A. 2012 Sep;158A(9):2204-13. doi: 10.1002/ajmg.a.35532. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22888040 Free PMC article.
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