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Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
van Koolwijk LM, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, Macgregor S, Janssen SF, Hewitt AW, Viswanathan AC, ten Brink JB, Hosseini SM, Amin N, Despriet DD, Willemse-Assink JJ, Kramer R, Rivadeneira F, Struchalin M, Aulchenko YS, Weisschuh N, Zenkel M, Mardin CY, Gramer E, Welge-Lüssen U, Montgomery GW, Carbonaro F, Young TL; DCCT/EDIC Research Group; Bellenguez C, McGuffin P, Foster PJ, Topouzis F, Mitchell P, Wang JJ, Wong TY, Czudowska MA, Hofman A, Uitterlinden AG, Wolfs RC, de Jong PT, Oostra BA, Paterson AD; Wellcome Trust Case Control Consortium 2; Mackey DA, Bergen AA, Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CC, van Duijn CM. van Koolwijk LM, et al. Among authors: zenkel m. PLoS Genet. 2012;8(5):e1002611. doi: 10.1371/journal.pgen.1002611. Epub 2012 May 3. PLoS Genet. 2012. PMID: 22570627 Free PMC article.
Variants in ASB10 are associated with open-angle glaucoma.
Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlötzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK. Pasutto F, et al. Among authors: zenkel m. Hum Mol Genet. 2012 Mar 15;21(6):1336-49. doi: 10.1093/hmg/ddr572. Epub 2011 Dec 8. Hum Mol Genet. 2012. PMID: 22156576 Free PMC article.
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Krumbiegel M, et al. Among authors: zenkel m. Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. doi: 10.1167/iovs.08-2339. Epub 2009 Jan 31. Invest Ophthalmol Vis Sci. 2009. PMID: 19182256 Free article.
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Krumbiegel M, et al. Among authors: zenkel m. Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1. Eur J Hum Genet. 2011. PMID: 20808326 Free PMC article.
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, … See abstract for full author list ➔ Aung T, et al. Among authors: zenkel m. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553957 Free PMC article.
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.
Pasutto F, Zenkel M, Hoja U, Berner D, Uebe S, Ferrazzi F, Schödel J, Liravi P, Ozaki M, Paoli D, Frezzotti P, Mizoguchi T, Nakano S, Kubota T, Manabe S, Salvi E, Manunta P, Cusi D, Gieger C, Wichmann HE, Aung T, Khor CC, Kruse FE, Reis A, Schlötzer-Schrehardt U. Pasutto F, et al. Among authors: zenkel m. Nat Commun. 2017 May 23;8:15466. doi: 10.1038/ncomms15466. Nat Commun. 2017. PMID: 28534485 Free PMC article.
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, Rautenbach RM, Ziskind A, Williams SE, Carmichael TR, Ramsay M, Topouzis F, Chatzikyriakidou A, Lambropoulos A, Sundaresan P, Ayub H, Akhtar F, Qamar R, Zenteno JC, Cruz-Aguilar M, Astakhov YS, Dubina M, Wiggs J, Ozaki M, Kruse FE, Aung T, Reis A, Khor CC, Pasutto F, Schlötzer-Schrehardt U. Berner D, et al. Among authors: zenkel m. Hum Mol Genet. 2019 Aug 1;28(15):2531-2548. doi: 10.1093/hmg/ddz075. Hum Mol Genet. 2019. PMID: 30986821 Free PMC article.
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.
Genetics of Exfoliation Syndrome Partnership; Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim … See abstract for full author list ➔ Genetics of Exfoliation Syndrome Partnership, et al. Among authors: zenkel m. JAMA. 2021 Feb 23;325(8):753-764. doi: 10.1001/jama.2021.0507. JAMA. 2021. PMID: 33620406 Free PMC article.
50 results