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Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Perez JI, Benitez J, Anton-Culver H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C; GENICA Network; Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Invest… See abstract for full author list ➔ French JD, et al. Among authors: vithana en. Am J Hum Genet. 2013 Apr 4;92(4):489-503. doi: 10.1016/j.ajhg.2013.01.002. Epub 2013 Mar 27. Am J Hum Genet. 2013. PMID: 23540573 Free PMC article.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Cheng T, Tomlinson I, Kerin MJ, Miller N, Marmé F, Surowy HM, Burwinkel B, Guénel P, Truong T, Menegaux F, Mulot C, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, González-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Anton-Culver H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Müller-Myhsok B, Brauch H, Brüning T, Ko YD; GENICA Network; Tessier DC, Vincent D, Bacot F, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Matsuo K, Ito H, Iwata H, Horio A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu AH, Tseng CC, Van Den Berg D, Stram DO, Neven P, Wauters E, Wildiers H, Lambrechts D, Chang-Claude J, Rudolph A, Seibo… See abstract for full author list ➔ Lin WY, et al. Among authors: vithana en. Hum Mol Genet. 2015 Jan 1;24(1):285-98. doi: 10.1093/hmg/ddu431. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168388 Free PMC article.
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, Williams A, Santiago-Turla C, Qin X, Rautenbach RM, Ziskind A, Ramsay M, Uebe S, Song L, Safi A, Vithana EN, Mizoguchi T, Nakano S, Kubota T, Hayashi K, Manabe S, Kazama S, Mori Y, Miyata K, Yoshimura N, Reis A, Crawford GE, Pasutto F, Carmichael TR, Williams SE, Ozaki M, Aung T, Khor CC, Stamer WD, Ashley-Koch AE, Allingham RR. Hauser MA, et al. Among authors: vithana en. Hum Mol Genet. 2015 Nov 15;24(22):6552-63. doi: 10.1093/hmg/ddv347. Epub 2015 Aug 25. Hum Mol Genet. 2015. PMID: 26307087 Free PMC article.
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Springelkamp H, Iglesias AI, Mishra A, Höhn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, Gibson J, Bailey JN, Vithana EN, Gharahkhani P, Boutin T, Ramdas WD, Zeller T, Luben RN, Yonova-Doing E, Viswanathan AC, Yazar S, Cree AJ, Haines JL, Koh JY, Souzeau E, Wilson JF, Amin N, Müller C, Venturini C, Kearns LS, Kang JH; NEIGHBORHOOD Consortium; Tham YC, Zhou T, van Leeuwen EM, Nickels S, Sanfilippo P, Liao J, van der Linde H, Zhao W, van Koolwijk LM, Zheng L, Rivadeneira F, Baskaran M, van der Lee SJ, Perera S, de Jong PT, Oostra BA, Uitterlinden AG, Fan Q, Hofman A, Tai ES, Vingerling JR, Sim X, Wolfs RC, Teo YY, Lemij HG, Khor CC, Willemsen R, Lackner KJ, Aung T, Jansonius NM, Montgomery G, Wild PS, Young TL, Burdon KP, Hysi PG, Pasquale LR, Wong TY, Klaver CC, Hewitt AW, Jonas JB, Mitchell P, Lotery AJ, Foster PJ, Vitart V, Pfeiffer N, Craig JE, Mackey DA, Hammond CJ, Wiggs JL, Cheng CY, van Duijn CM, MacGregor S. Springelkamp H, et al. Among authors: vithana en. Hum Mol Genet. 2017 Jan 15;26(2):438-453. doi: 10.1093/hmg/ddw399. Hum Mol Genet. 2017. PMID: 28073927 Free PMC article.
Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
Cornes BK, Khor CC, Nongpiur ME, Xu L, Tay WT, Zheng Y, Lavanya R, Li Y, Wu R, Sim X, Wang YX, Chen P, Teo YY, Chia KS, Seielstad M, Liu J, Hibberd ML, Cheng CY, Saw SM, Tai ES, Jonas JB, Vithana EN, Wong TY, Aung T. Cornes BK, et al. Among authors: vithana en. Hum Mol Genet. 2012 Jan 15;21(2):437-45. doi: 10.1093/hmg/ddr463. Epub 2011 Oct 7. Hum Mol Genet. 2012. PMID: 21984434
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Ikram MK, Hewitt AW, Duggal P, Janmahasatian S, Khor CC, Fan Q, Zhou X, Young TL, Tai ES, Goh LK, Li YJ, Aung T, Vithana E, Teo YY, Tay W, Sim X, Rudan I, Hayward C, Wright AF, Polasek O, Campbell H, Wilson JF, Fleck BW, Nakata I, Yoshimura N, Yamada R, Matsuda F, Ohno-Matsui K, Nag A, McMahon G, St Pourcain B, Lu Y, Rahi JS, Cumberland PM, Bhattacharya S, Simpson CL, Atwood LD, Li X, Raffel LJ, Murgia F, Portas L, Despriet DD, van Koolwijk LM, Wolfram C, Lackner KJ, Tönjes A, Mägi R, Lehtimäki T, Kähönen M, Esko T, Metspalu A, Rantanen T, Pärssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith AV, de Jong PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiríksdóttir G, Gudnason V, Döring A, Bettecken T, Uitterlinden AG, Williams C, Zeller T, Castagné R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Höhn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC. Verhoeven VJ, et al. Hum Genet. 2012 Sep;131(9):1467-80. doi: 10.1007/s00439-012-1176-0. Epub 2012 Jun 5. Hum Genet. 2012. PMID: 22665138 Free PMC article.
124 results