Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.
作者信息
Gibbs D C, Ward S V, Orlow I, Cadby G, Kanetsky P A, Luo L, Busam K J, Kricker A, Armstrong B K, Cust A E, Anton-Culver H, Gallagher R P, Zanetti R, Rosso S, Sacchetto L, Ollila D W, Begg C B, Berwick M, Thomas N E
机构信息
Department of Epidemiology, Emory University, Atlanta, GA, U.S.A.
Centre for Genetic Origins of Health and Disease, The University of Western Australia, Crawley, Western Australia, Australia.
出版信息
Br J Dermatol. 2017 Nov;177(5):e180-e182. doi: 10.1111/bjd.15784. Epub 2017 Oct 6.
Abstract
摘要
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本文引用的文献
1
IRF4 rs12203592 functional variant and melanoma survival.IRF4 rs12203592 功能变异与黑色素瘤生存。
Int J Cancer. 2017 Apr 15;140(8):1845-1849. doi: 10.1002/ijc.30605. Epub 2017 Feb 6.
2
Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways.干扰素调节因子4基因多态性rs12203592与不同黑色素瘤通路的关联
J Natl Cancer Inst. 2016 Feb 8;108(7). doi: 10.1093/jnci/djw004. Print 2016 Jul.
3
Inherited genetic variants associated with occurrence of multiple primary melanoma.与多发性原发性黑色素瘤发生相关的遗传变异。
Cancer Epidemiol Biomarkers Prev. 2015 Jun;24(6):992-7. doi: 10.1158/1055-9965.EPI-14-1426. Epub 2015 Apr 2.
4
Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter.黑色素细胞中IRF4的等位基因特异性转录调控是由内含子rs12203592增强子与IRF4启动子之间的染色质环化介导的。
Hum Mol Genet. 2015 May 1;24(9):2649-61. doi: 10.1093/hmg/ddv029. Epub 2015 Jan 27.
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The association of host and genetic melanoma risk factors with Breslow thickness in the Western Australian Melanoma Health Study.在西澳黑色素瘤健康研究中，宿主和遗传黑色素瘤风险因素与 Breslow 厚度的相关性。
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6
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Int J Cancer. 2012 Jan 15;130(2):405-18. doi: 10.1002/ijc.26023. Epub 2011 Apr 25.
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An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males.IRF4基因的一个内含子多态性在体外影响基因转录，并显示出与男性儿童急性淋巴细胞白血病的风险关联。
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8
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Mol Cell Biol. 2009 Feb;29(3):929-41. doi: 10.1128/MCB.00961-08. Epub 2008 Dec 1.
9
Telomerase activity in prognostic histopathologic features of melanoma.端粒酶活性在黑色素瘤预后组织病理学特征中的作用
J Plast Reconstr Aesthet Surg. 2006;59(9):961-8. doi: 10.1016/j.bjps.2006.01.022. Epub 2006 Apr 3.
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An efficient Monte Carlo approach to assessing statistical significance in genomic studies.一种用于评估基因组研究中统计显著性的高效蒙特卡罗方法。
Bioinformatics. 2005 Mar;21(6):781-7. doi: 10.1093/bioinformatics/bti053. Epub 2004 Sep 28.
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