Defining novel causal SNPs and linked phenotypes at melanoma-associated loci

Autor: Castaneda-Garcia, C, Iyer, V, Nsengimana, J, Trower, A, Droop, A, Brown, KM, Choi, J, Zhang, T, Harland, M, Newton-Bishop, JA, Bishop, DT, Adams, DJ, Iles, MM, Robles-Espinoza, CD

Publikováno v: Human Molecular Genetics. 31:2845-2856

A number of genomic regions have been associated with melanoma risk through genome-wide association studies; however, the causal variants underlying the majority of these associations remain unknown. Here, we sequenced either the full locus or the fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54e486c335746c75560a504e91f99e52
https://doi.org/10.1093/hmg/ddac074

Vitamin D-VDR signaling inhibits Wnt/beta-catenin-mediated melanoma progression and promotes anti-tumor immunity

Autor: Muralidhar, S, Filia, A, Nsengimana, J, Pozniak, J, O'Shea, SJ, Diaz, JM, Harland, M, Randerson-Moor, JA, Reichrath, J, Laye, JP, van der Weyden, L, Adams, DJ, Bishop, DT, Newton-Bishop, J

1α,25-dihydroxyvitamin D3 signals via the Vitamin D Receptor (VDR). Higher serum vitamin D is associated with thinner primary melanoma and better outcome, although a causal mechanism has not been established. As melanoma patients commonly avoid sun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ea8d8de776eb9afe72826610c9b9abe
https://eprints.whiterose.ac.uk/150850/1/Accepted_sept2019.pdf

An atlas of genetic influences on osteoporosis in humans and mice

Autor: Morris, JA, Kemp, JP, Youlten, SE, Laurent, L, Logan, JG, Chai, RC, Vulpescu, NA, Forgetta, V, Kleinman, A, Mohanty, ST, Sergio, CM, Quinn, J, Nguyen-Yamamoto, L, Luco, A-L, Vijay, J, Simon, M-M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, EJ, Butterfield, NC, Curry, KF, Leitch, VD, Sparkes, PC, Adoum, A-T, Mannan, NS, Komla-Ebri, DSK, Pollard, AS, Dewhurst, HF, Hassall, TAD, Beltejar, M-JG, Agee, M, Alipanahi, B, Auton, A, Bell, RK, Bryc, K, Elson, SL, Fontanillas, P, Furlotte, NA, McCreight, JC, Huber, KE, Litterman, NK, McIntyre, MH, Mountain, JL, Noblin, ES, Northover, CAM, Pitts, SJ, Sathirapongsasuti, JF, Sazonova, OV, Shelton, JF, Shringarpure, S, Tian, C, Tung, JY, Vacic, V, Wilson, CH, Adams, DJ, Vaillancourt, SM, Kaptoge, S, Baldock, P, Cooper, C, Reeve, J, Ntzani, EE, Evangelou, E, Ohlsson, C, Karasik, D, Rivadeneira, F, Kiel, DP, Tobias, JH, Gregson, CL, Harvey, NC, Grundberg, E, Goltzman, D, Lelliott, CJ, Hinds, DA, Ackert-Bicknell, CL, Hsu, Y-H, Maurano, MT, Croucher, PI, Williams, GR, Bassett, JHD, Evans, DM, Richards, JB

Publikováno v: Nature Genetics, 51(2), 258-266. Nature Publishing Group
the 23 and Me Research Team, Morris, J A, Kemp, J P, Youlten, S E, Laurent, L, Logan, J G, Chai, R C, Vulpescu, N A, Forgetta, V, Kleinman, A, Mohanty, S T, Sergio, C M, Quinn, J, Nguyen-Yamamoto, L, Luco, A L, Vijay, J, Simon, M M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, E J, Butterfield, N C, Curry, K F, Leitch, V D, Sparkes, P C, Adoum, A T, Mannan, N S, Komla-Ebri, D S K, Pollard, A S, Dewhurst, H F, Hassall, T A D, Beltejar, M J G, Agee, M, Alipanahi, B, Auton, A, Bell, R K, Bryc, K, Elson, S L, Fontanillas, P, Furlotte, N A, McCreight, J C, Huber, K E, Litterman, N K, McIntyre, M H, Mountain, J L, Wilson, C H, Cooper, C, Tobias, J H, Gregson, C L, Adams, D J & Evans, D M 2019, ' An atlas of genetic influences on osteoporosis in humans and mice ', Nature Genetics, vol. 51, pp. 258–266 . https://doi.org/10.1038/s41588-018-0302-x
Nature genetics

Osteoporosis is a common debilitating chronic disease diagnosed primarily using bone mineral density (BMD). We undertook a comprehensive assessment of human genetic determinants of bone density in 426,824 individuals, identifying a total of 518 genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::144c7600a65cf0f583134acbcbf5a1ba
http://hdl.handle.net/10044/1/66283

Visible-Light-Driven Hydrogen Evolution Using Planarized Conjugated Polymer Photocatalysts (vol 55, pg 1792, 2016)

Autor: Sprick, RS, Bonillo, B, Clowes, R, Guiglion, P, Brownbill, NJ, Slater, BJ, Blanc, F, Zwijnenburg, MA, Adams, DJ, Cooper, AI

Publikováno v: ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::833688f3086c556ad8551cc64698e1ec
http://livrepository.liverpool.ac.uk/3019345/1/Manuscript_correction.docx

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

Autor: Kemp, JP, Morris, JA, Medina-Gomez, C, Forgetta, V, Warrington, NM, Youlten, SE, Zheng, J, Gregson, CL, Grundberg, E, Trajanoska, K, Logan, JC, Pollard, AS, Sparkes, PC, Ghirardello, EJ, Allen, R, Butterfield, NC, Komla-Ebri, D, Adoum, AT, Curry, KF, White, JK, Kussy, F, Greenlaw, KM, Xu, C, Harvey, NC, Cooper, C, Adams, DJ, Greenwood, CMT, Maurano, MT, Kaptoge, SK, Rivadeneira, F, Tobias, JH, Croucher, PI, Ackert-Bicknell, C, Bassett, JHD, Williams, GR, Richards, JB, Evans, DM

Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study in 142,487 individuals from the UK Biobank to identify loci associated with BMD estimated by quantitative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b00a021d00674188a5f523e4f28f8eb
https://www.repository.cam.ac.uk/handle/1810/267772