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Common genetic variants associated with open-angle glaucoma.
Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. Ramdas WD, et al. Among authors: mardin cy. Hum Mol Genet. 2011 Jun 15;20(12):2464-71. doi: 10.1093/hmg/ddr120. Epub 2011 Mar 22. Hum Mol Genet. 2011. PMID: 21427129
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: mardin cy. PLoS Genet. 2012;8(5):e1002611. doi: 10.1371/journal.pgen.1002611. Epub 2012 May 3. PLoS Genet. 2012. PMID: 22570627 Free PMC article.
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A. Pasutto F, et al. Among authors: mardin cy. Am J Hum Genet. 2009 Oct;85(4):447-56. doi: 10.1016/j.ajhg.2009.08.016. Epub 2009 Sep 17. Am J Hum Genet. 2009. PMID: 19765683 Free PMC article.
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Fernández-Martínez L, et al. Among authors: mardin cy. Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224891 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: mardin cy. 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.
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: mardin cy. 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.
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.
Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, Sun X, Zhu W, Li DY, Pasutto F, Yang Z. Gong B, et al. Genet Med. 2019 Oct;21(10):2345-2354. doi: 10.1038/s41436-019-0507-0. Epub 2019 Apr 19. Genet Med. 2019. PMID: 31000793 Free article.
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Al Shahwan S, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh … See abstract for full author list ➔ Aung T, et al. Among authors: mardin c. Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Epub 2015 Feb 23. Nat Genet. 2015. PMID: 25706626 Free PMC article.
182 results