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An isoform of the vacuolar (H(+))-ATPase accessory subunit Ac45.
Jansen EJ, van Bakel NH, Coenen AJ, van Dooren SH, van Lith HA, Martens GJ. Jansen EJ, et al. Among authors: van bakel nh. Cell Mol Life Sci. 2010 Feb;67(4):629-40. doi: 10.1007/s00018-009-0200-6. Epub 2009 Nov 28. Cell Mol Life Sci. 2010. PMID: 19946730 Free PMC article.
Novel vertebrate- and brain-specific driver of neuronal outgrowth.
Jansen EJR, van Bakel NHM, Benedict B, Olde Loohuis NFM, Hafmans TGM, Chim SM, Xu J, Kolk SM, Martens GJM. Jansen EJR, et al. Among authors: van bakel nhm. Prog Neurobiol. 2021 Jul;202:102069. doi: 10.1016/j.pneurobio.2021.102069. Epub 2021 Apr 29. Prog Neurobiol. 2021. PMID: 33933532 Free article.
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. Jansen EJ, et al. Among authors: van bakel nh. Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600. Nat Commun. 2016. PMID: 27231034 Free PMC article.
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM. Witteveen JS, et al. Among authors: van bakel nh. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11. Nat Genet. 2016. PMID: 27399968
Increased GABAB receptor signaling in a rat model for schizophrenia.
Selten MM, Meyer F, Ba W, Vallès A, Maas DA, Negwer M, Eijsink VD, van Vugt RWM, van Hulten JA, van Bakel NHM, Roosen J, van der Linden RJ, Schubert D, Verheij MMM, Kasri NN, Martens GJM. Selten MM, et al. Among authors: van bakel nhm. Sci Rep. 2016 Sep 30;6:34240. doi: 10.1038/srep34240. Sci Rep. 2016. PMID: 27687783 Free PMC article.
94 results