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Page 1
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Among authors: uebe s. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 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: uebe s. 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.
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis.
Apel M, Uebe S, Bowes J, Giardina E, Korendowych E, Juneblad K, Pasutto F, Ekici AB, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Padyukov L, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A, Hüffmeier U. Apel M, et al. Among authors: uebe s. Arthritis Rheum. 2013 May;65(5):1224-31. doi: 10.1002/art.37885. Arthritis Rheum. 2013. PMID: 23401011 Free article.
Rare copy number variants are a common cause of short stature.
Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Among authors: uebe s. PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516380 Free PMC article.
Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.
Bowes J, Budu-Aggrey A, Huffmeier U, Uebe S, Steel K, Hebert HL, Wallace C, Massey J, Bruce IN, Bluett J, Feletar M, Morgan AW, Marzo-Ortega H, Donohoe G, Morris DW, Helliwell P, Ryan AW, Kane D, Warren RB, Korendowych E, Alenius GM, Giardina E, Packham J, McManus R, FitzGerald O, McHugh N, Brown MA, Ho P, Behrens F, Burkhardt H, Reis A, Barton A. Bowes J, et al. Among authors: uebe s. Nat Commun. 2015 Feb 5;6:6046. doi: 10.1038/ncomms7046. Nat Commun. 2015. PMID: 25651891 Free PMC 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: uebe s. 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.
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: uebe s. 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.
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, Patrosso M, Weinreb RN, Penco S, Reis A, Pasutto F. Mauri L, et al. Among authors: uebe s. Orphanet J Rare Dis. 2016 Aug 2;11(1):108. doi: 10.1186/s13023-016-0495-y. Orphanet J Rare Dis. 2016. PMID: 27484908 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: uebe s. Nat Commun. 2017 May 23;8:15466. doi: 10.1038/ncomms15466. Nat Commun. 2017. PMID: 28534485 Free PMC article.
92 results