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Page 1
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: swagemakers sma. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Thyrotropin acts as a T-cell developmental factor in mice and humans.
van der Weerd K, van Hagen PM, Schrijver B, Heuvelmans SJ, Hofland LJ, Swagemakers SM, Bogers AJ, Dik WA, Visser TJ, van Dongen JJ, van der Lelij AJ, Staal FJ. van der Weerd K, et al. Among authors: swagemakers sm. Thyroid. 2014 Jun;24(6):1051-61. doi: 10.1089/thy.2013.0396. Epub 2014 May 15. Thyroid. 2014. PMID: 24635198
Extracellular matrix defects in aneurysmal Fibulin-4 mice predispose to lung emphysema.
Ramnath NW, van de Luijtgaarden KM, van der Pluijm I, van Nimwegen M, van Heijningen PM, Swagemakers SM, van Thiel BS, Ridwan RY, van Vliet N, Vermeij M, Hawinkels LJ, de Munck A, Dzyubachyk O, Meijering E, van der Spek P, Rottier R, Yanagisawa H, Hendriks RW, Kanaar R, Rouwet EV, Kleinjan A, Essers J. Ramnath NW, et al. Among authors: swagemakers sm. PLoS One. 2014 Sep 25;9(9):e106054. doi: 10.1371/journal.pone.0106054. eCollection 2014. PLoS One. 2014. PMID: 25255451 Free PMC article.
Physiological thyroid hormone levels regulate numerous skeletal muscle transcripts.
Visser WE, Heemstra KA, Swagemakers SM, Ozgür Z, Corssmit EP, Burggraaf J, van Ijcken WF, van der Spek PJ, Smit JW, Visser TJ. Visser WE, et al. Among authors: swagemakers sm. J Clin Endocrinol Metab. 2009 Sep;94(9):3487-96. doi: 10.1210/jc.2009-0782. Epub 2009 Jun 30. J Clin Endocrinol Metab. 2009. PMID: 19567520
Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade.
Moltzer E, te Riet L, Swagemakers SM, van Heijningen PM, Vermeij M, van Veghel R, Bouhuizen AM, van Esch JH, Lankhorst S, Ramnath NW, de Waard MC, Duncker DJ, van der Spek PJ, Rouwet EV, Danser AH, Essers J. Moltzer E, et al. Among authors: swagemakers sm. PLoS One. 2011;6(8):e23411. doi: 10.1371/journal.pone.0023411. Epub 2011 Aug 9. PLoS One. 2011. PMID: 21858106 Free PMC article.
ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus.
Breton A, Theodorou A, Aktuna S, Sonzogni L, Darling D, Chan L, Menzel S, van der Spek PJ, Swagemakers SM, Grosveld F, Philipsen S, Thein SL. Breton A, et al. Among authors: swagemakers sm. Br J Haematol. 2016 Nov;175(3):525-530. doi: 10.1111/bjh.14256. Epub 2016 Jul 19. Br J Haematol. 2016. PMID: 27434206 Free article.
80 results