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Page 1
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
Simpson CL, Wojciechowski R, Oexle K, Murgia F, Portas L, Li X, Verhoeven VJ, Vitart V, Schache M, Hosseini SM, Hysi PG, Raffel LJ, Cotch MF, Chew E, Klein BE, Klein R, Wong TY, van Duijn CM, Mitchell P, Saw SM, Fossarello M, Wang JJ; DCCT/EDIC Research Group; Polašek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Döring A, Bettecken T, Bencic G, Gieger C, Wichmann HE, Wilson JF, Venturini C, Fleck B, Cumberland PM, Rahi JS, Hammond CJ, Hayward C, Wright AF, Paterson AD, Baird PN, Klaver CC, Rotter JI, Pirastu M, Meitinger T, Bailey-Wilson JE, Stambolian D. Simpson CL, et al. Among authors: oexle k. PLoS One. 2014 Sep 18;9(9):e107110. doi: 10.1371/journal.pone.0107110. eCollection 2014. PLoS One. 2014. PMID: 25233373 Free PMC article.
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. Gong Y, et al. Among authors: oexle k. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. Cell. 2001. PMID: 11719191 Free article.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: oexle k. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, Stewart AF, Voight BF, Willenborg C, Wright B, Altshuler D, Arking D, Balkau B, Barnes D, Boerwinkle E, Böhm B, Bonnefond A, Bonnycastle LL, Boomsma DI, Bornstein SR, Böttcher Y, Bumpstead S, Burnett-Miller MS, Campbell H, Cao A, Chambers J, Clark R, Collins FS, Coresh J, de Geus EJ, Dei M, Deloukas P, Döring A, Egan JM, Elosua R, Ferrucci L, Forouhi N, Fox CS, Franklin C, Franzosi MG, Gallina S, Goel A, Graessler J, Grallert H, Greinacher A, Hadley D, Hall A, Hamsten A, Hayward C, Heath S, Herder C, Homuth G, Hottenga JJ, Hunter-Merrill R, Illig T, Jackson AU, Jula A, Kleber M, Knouff CW, Kong A, Kooner J, Köttgen A, Kovacs P, Krohn K, Kühnel B, Kuusisto J, Laakso M, Lathrop M, Lecoeur C, Li M, Li M, Loos RJ, Luan J, Lyssenko V, Mägi R, Magnusson PK, Mälarstig A, Mangino M, Martínez-Larrad MT, März W, McArdle WL, McPherson R, Meisinger C, Meitinger T, Melander O, Mohlke KL, Mooser VE, Morken MA, Narisu N, Nathan DM, Nauck M, O'Donnell C, Oexle K, Olla N, Pankow JS, Payne F, Peden JF, Pedersen NL, Pelt… See abstract for full author list ➔ Soranzo N, et al. Among authors: oexle k. Diabetes. 2010 Dec;59(12):3229-39. doi: 10.2337/db10-0502. Epub 2010 Sep 21. Diabetes. 2010. PMID: 20858683 Free PMC article.
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Gögele M, Lichtner P, Müller-Myhsok B, Döring A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann HE, Gieger C, Winkelmann J, Meitinger T. Oexle K, et al. Hum Mol Genet. 2011 Mar 1;20(5):1042-7. doi: 10.1093/hmg/ddq538. Epub 2010 Dec 10. Hum Mol Genet. 2011. PMID: 21149283 Free PMC article.
Sampling GWAS subjects from risk populations.
Oexle K, Meitinger T. Oexle K, et al. Genet Epidemiol. 2011 Apr;35(3):148-53. doi: 10.1002/gepi.20562. Epub 2011 Feb 16. Genet Epidemiol. 2011. PMID: 21328614
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
Schormair B, Plag J, Kaffe M, Gross N, Czamara D, Samtleben W, Lichtner P, Ströhle A, Stefanidis I, Vainas A, Dardiotis E, Sakkas GK, Gieger C, Müller-Myhsok B, Meitinger T, Heemann U, Hadjigeorgiou GM, Oexle K, Winkelmann J. Schormair B, et al. Among authors: oexle k. J Med Genet. 2011 Jul;48(7):462-6. doi: 10.1136/jmg.2010.087858. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572129 Free PMC article.
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. Among authors: oexle k. 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.
110 results