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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. Motta M, et al. Among authors: schuh k. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8. Am J Hum Genet. 2021. PMID: 34626534 Free PMC article.
Gene trap: knockout on the fast lane.
Ullrich M, Schuh K. Ullrich M, et al. Among authors: schuh k. Methods Mol Biol. 2009;561:145-59. doi: 10.1007/978-1-60327-019-9_10. Methods Mol Biol. 2009. PMID: 19504070
OCD-like behavior is caused by dysfunction of thalamo-amygdala circuits and upregulated TrkB/ERK-MAPK signaling as a result of SPRED2 deficiency.
Ullrich M, Weber M, Post AM, Popp S, Grein J, Zechner M, Guerrero González H, Kreis A, Schmitt AG, Üçeyler N, Lesch KP, Schuh K. Ullrich M, et al. Among authors: schuh k. Mol Psychiatry. 2018 Feb;23(2):444-458. doi: 10.1038/mp.2016.232. Epub 2017 Jan 10. Mol Psychiatry. 2018. PMID: 28070119 Free PMC article.
Gene disruption of Spred-2 causes dwarfism.
Bundschu K, Knobeloch KP, Ullrich M, Schinke T, Amling M, Engelhardt CM, Renné T, Walter U, Schuh K. Bundschu K, et al. Among authors: schuh k. J Biol Chem. 2005 Aug 5;280(31):28572-80. doi: 10.1074/jbc.M503640200. Epub 2005 Jun 9. J Biol Chem. 2005. PMID: 15946934 Free article.
SPRED2 deficiency elicits cardiac arrhythmias and premature death via impaired autophagy.
Ullrich M, Aßmus B, Augustin AM, Häbich H, Abeßer M, Martin Machado J, Werner F, Erkens R, Arias-Loza AP, Umbenhauer S, Wagner H, Benz PM, Unger A, Linke WA, Frantz S, Baba HA, Kuhn M, Schuh K. Ullrich M, et al. Among authors: schuh k. J Mol Cell Cardiol. 2019 Apr;129:13-26. doi: 10.1016/j.yjmcc.2019.01.023. Epub 2019 Feb 13. J Mol Cell Cardiol. 2019. PMID: 30771306
Spred2 expression during mouse development.
Tuduce IL, Schuh K, Bundschu K. Tuduce IL, et al. Among authors: schuh k. Dev Dyn. 2010 Nov;239(11):3072-85. doi: 10.1002/dvdy.22432. Dev Dyn. 2010. PMID: 20882678 Free article.
164 results