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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.
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, Fang Y, Haldenby S, Hartmann H, Bassuk AG, Carvalho A, Sposito F, Grinstein L, Rösen-Wolff A, Meyer-Bahlburg A, Beresford MW, Lainka E, Foell D, Wittkowski H, Girschick HJ, Morbach H, Uebe S, Hüffmeier U, Ferguson PJ, Hedrich CM. Charras A, et al. Among authors: uebe s. J Autoimmun. 2024 Apr;144:103183. doi: 10.1016/j.jaut.2024.103183. Epub 2024 Feb 23. J Autoimmun. 2024. PMID: 38401466 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: 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.
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
Hüffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A. Hüffmeier U, et al. Among authors: uebe s. Nat Genet. 2010 Nov;42(11):996-9. doi: 10.1038/ng.688. Epub 2010 Oct 17. Nat Genet. 2010. PMID: 20953186 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.
De novo mutations in the genome organizer CTCF cause intellectual disability.
Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C. Gregor A, et al. Among authors: uebe s. Am J Hum Genet. 2013 Jul 11;93(1):124-31. doi: 10.1016/j.ajhg.2013.05.007. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746550 Free PMC article.
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A. Hofmann K, et al. Among authors: uebe s. Am J Med Genet A. 2013 Nov;161A(11):2880-9. doi: 10.1002/ajmg.a.36250. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124006
92 results