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Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.
Tang W, Fu YP, Figueroa JD, Malats N, Garcia-Closas M, Chatterjee N, Kogevinas M, Baris D, Thun M, Hall JL, De Vivo I, Albanes D, Porter-Gill P, Purdue MP, Burdett L, Liu L, Hutchinson A, Myers T, Tardón A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Black A, Jacobs EJ, Diver WR, Gapstur SM, Virtamo J, Hunter DJ, Fraumeni JF Jr, Chanock SJ, Silverman DT, Rothman N, Prokunina-Olsson L. Tang W, et al. Hum Mol Genet. 2012 Apr 15;21(8):1918-30. doi: 10.1093/hmg/ddr619. Epub 2012 Jan 6. Hum Mol Genet. 2012. PMID: 22228101 Free PMC article.
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Mirabello L, et al. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14. Blood. 2014. PMID: 24829207 Free PMC article.
Detectible mosaic truncating PPM1D mutations, age and breast cancer risk.
Machiela MJ, Myers TA, Lyons CJ, Koster R, Figg WD Jr, Colli LM, Jessop L, Ahearn TU, Freedman ND, García-Closas M, Chanock SJ. Machiela MJ, et al. Among authors: myers ta. J Hum Genet. 2019 Jun;64(6):545-550. doi: 10.1038/s10038-019-0589-1. Epub 2019 Mar 8. J Hum Genet. 2019. PMID: 30850729 Free PMC article.
53 results