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POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. Robles-Espinoza CD, et al. Among authors: makowski m. Nat Genet. 2014 May;46(5):478-481. doi: 10.1038/ng.2947. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686849 Free PMC article.
A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.
Choi J, Xu M, Makowski MM, Zhang T, Law MH, Kovacs MA, Granzhan A, Kim WJ, Parikh H, Gartside M, Trent JM, Teulade-Fichou MP, Iles MM, Newton-Bishop JA, Bishop DT, MacGregor S, Hayward NK, Vermeulen M, Brown KM. Choi J, et al. Among authors: makowski mm. Nat Genet. 2017 Sep;49(9):1326-1335. doi: 10.1038/ng.3927. Epub 2017 Jul 31. Nat Genet. 2017. PMID: 28759004 Free article.
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium; Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Among authors: makowski m. Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Nat Commun. 2017. PMID: 28447668 Free PMC article.
SDHD Promoter Mutations Ablate GABP Transcription Factor Binding in Melanoma.
Zhang T, Xu M, Makowski MM, Lee C, Kovacs M, Fang J, Willems E, Trent JM, Hayward NK, Vermeulen M, Brown KM. Zhang T, et al. Among authors: makowski mm. Cancer Res. 2017 Apr 1;77(7):1649-1661. doi: 10.1158/0008-5472.CAN-16-0919. Epub 2017 Jan 20. Cancer Res. 2017. PMID: 28108517 Free PMC article.
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.
Choi J, Zhang T, Vu A, Ablain J, Makowski MM, Colli LM, Xu M, Hennessey RC, Yin J, Rothschild H, Gräwe C, Kovacs MA, Funderburk KM, Brossard M, Taylor J, Pasaniuc B, Chari R, Chanock SJ, Hoggart CJ, Demenais F, Barrett JH, Law MH, Iles MM, Yu K, Vermeulen M, Zon LI, Brown KM. Choi J, et al. Among authors: makowski mm. Nat Commun. 2020 Jun 1;11(1):2718. doi: 10.1038/s41467-020-16590-1. Nat Commun. 2020. PMID: 32483191 Free PMC article.
Publisher correction: Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R, Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Timothy Bishop D, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Teresa Landi M, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Among authors: makowski m. Nat Commun. 2018 Mar 5;9:16159. doi: 10.1038/ncomms16159. Nat Commun. 2018. PMID: 29596408 Free PMC article.
An Interaction Landscape of Ubiquitin Signaling.
Zhang X, Smits AH, van Tilburg GB, Jansen PW, Makowski MM, Ovaa H, Vermeulen M. Zhang X, et al. Among authors: makowski mm. Mol Cell. 2017 Mar 2;65(5):941-955.e8. doi: 10.1016/j.molcel.2017.01.004. Epub 2017 Feb 9. Mol Cell. 2017. PMID: 28190767 Free article.
599 results