المؤلفون: Glubb, DM, Johnatty, SE, Quinn, MCJ, O'Mara, TA, Tyrer, JP, Gao, B, Fasching, PA, Beckmann, MW, Lambrechts, D, Vergote, I, Edwards, DRV, Beeghly-Fadiel, A, Benitez, J, Garcia, MJ, Goodman, MT, Thompson, PJ, Doerk, T, Duerst, M, Modungo, F, Moysich, K, Heitz, F, du Bois, A, Pfisterer, J, Hillemanns, P, Karlan, BY, Lester, J, Goode, EL, Cunningham, JM, Winham, SJ, Larson, MC, McCauley, BM, Kjaer, SK, Jensen, A, Schildkraut, JM, Berchuck, A, Cramer, DW, Terry, KL, Salvesen, HB, Bjorge, L, Webb, PM, Grant, P, Pejovic, T, Moffitt, M, Hogdall, CK, Hogdall, E, Paul, J, Glasspool, R, Bernardini, M, Tone, A, Huntsman, D, Woo, M, deFazio, A, Kennedy, CJ, Pharoah, PDP, MacGregor, S, Chenevix-Trench, G, Grp, AGOS, Grp, AOCS

المساهمون: Tyrer, Jonathan [0000-0003-3724-4757], Pharoah, Paul [0000-0001-8494-732X], Apollo - University of Cambridge Repository

المصدر: Oncotarget, vol 8, iss 39
Glubb, DM; Johnatty, SE; Quinn, MCJ; O'Mara, TA; Tyrer, JP; Gao, B; et al.(2017). Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.. Oncotarget, 8(39), 64670-64684. doi: 10.18632/oncotarget.18501. UCLA: Retrieved from: http://www.escholarship.org/uc/item/68c542t3Test
Glubb, DM; Johnatty, SE; Quinn, MCJ; O'Mara, TA; Tyrer, JP; Gao, B; et al.(2017). Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci. ONCOTARGET, 8(39), 64670-64684. doi: 10.18632/oncotarget.18501. UCLA: Retrieved from: http://www.escholarship.org/uc/item/6ws8d336Test

مصطلحات موضوعية: meta-analysis, genetic association, Oncology and Carcinogenesis, AGO Study Group, ovarian cancer outcome, gene regulation, health care economics and organizations

الوصف: We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a78b64604a7c5e6c33deadc0baa86dTest
https://www.repository.cam.ac.uk/handle/1810/285774Test

المؤلفون: Pearson, L. A.¹ (AUTHOR), Moffitt, M. C.² (AUTHOR), Ginn, H. P.¹ (AUTHOR), Neilan, B. A.¹ (AUTHOR) b.neilan@unsw.edu.au

المصدر: Critical Reviews in Toxicology. Oct2008, Vol. 38 Issue 10, p847-856. 10p. 1 Diagram.

مصطلحات موضوعية: *MICROCYSTINS, *MOLECULAR genetics, *CYANOBACTERIA, *BIOSYNTHESIS, *TOXINS, *METABOLITES, *PEPTIDES

مستخلص: Over the last 10 years, we have witnessed major advances in our understanding of natural product biosynthesis, including the genetic basis for toxin production by numerous groups of cyanobacteria. Cyanobacteria produce an unparalleled array of bioactive secondary metabolites, including alkaloids, polyketides and non-ribosomal peptides, some of which are potent toxins. This review addresses the molecular genetics underlying the production of hepatotoxins, microcystin and nodularin in fresh and brackish water. These toxins pose a serious threat to human health and their occurrence in water supplies is increasing, because of the prevalence of toxic algal blooms worldwide. Toxin biosynthesis gene-cluster-associated transposition and the natural transformability of certain species suggest a broader distribution of toxic cyanobacterial taxa. The information gained from the discovery of these toxin biosynthetic pathways has enabled the genetic screening of various environments for drinking-water quality management. Understanding the role of cyanotoxins in the producing microorganisms and the environmental regulation of their biosynthesis genes may also suggest the means of controlling toxic-bloom events. [ABSTRACT FROM AUTHOR]