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Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Among authors: de vrij fms. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.
de Esch CE, Ghazvini M, Loos F, Schelling-Kazaryan N, Widagdo W, Munshi ST, van der Wal E, Douben H, Gunhanlar N, Kushner SA, Pijnappel WW, de Vrij FM, Geijsen N, Gribnau J, Willemsen R. de Esch CE, et al. Stem Cell Reports. 2014 Oct 14;3(4):548-55. doi: 10.1016/j.stemcr.2014.07.013. Epub 2014 Sep 11. Stem Cell Reports. 2014. PMID: 25358783 Free PMC article.
Hepatitis E Virus Infects Neurons and Brains.
Zhou X, Huang F, Xu L, Lin Z, de Vrij FMS, Ayo-Martin AC, van der Kroeg M, Zhao M, Yin Y, Wang W, Cao W, Wang Y, Kushner SA, Marie Peron J, Alric L, de Man RA, Jacobs BC, van Eijk JJ, Aronica EMA, Sprengers D, Metselaar HJ, de Zeeuw CI, Dalton HR, Kamar N, Peppelenbosch MP, Pan Q. Zhou X, et al. Among authors: de man ra, de vrij fms, de zeeuw ci. J Infect Dis. 2017 Apr 15;215(8):1197-1206. doi: 10.1093/infdis/jix079. J Infect Dis. 2017. PMID: 28199701
A rare missense variant in RCL1 segregates with depression in extended families.
Amin N, de Vrij FMS, Baghdadi M, Brouwer RWW, van Rooij JGJ, Jovanova O, Uitterlinden AG, Hofman A, Janssen HLA, Darwish Murad S, Kraaij R, Stedehouder J, van den Hout MCGN, Kros JM, van IJcken WFJ, Tiemeier H, Kushner SA, van Duijn CM. Amin N, et al. Among authors: de vrij fms. Mol Psychiatry. 2018 May;23(5):1120-1126. doi: 10.1038/mp.2017.49. Epub 2017 Mar 21. Mol Psychiatry. 2018. PMID: 28322274 Free PMC article.
The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.
Vanhauwaert R, Kuenen S, Masius R, Bademosi A, Manetsberger J, Schoovaerts N, Bounti L, Gontcharenko S, Swerts J, Vilain S, Picillo M, Barone P, Munshi ST, de Vrij FM, Kushner SA, Gounko NV, Mandemakers W, Bonifati V, Meunier FA, Soukup SF, Verstreken P. Vanhauwaert R, et al. EMBO J. 2017 May 15;36(10):1392-1411. doi: 10.15252/embj.201695773. Epub 2017 Mar 22. EMBO J. 2017. PMID: 28331029 Free PMC article.
A simplified protocol for differentiation of electrophysiologically mature neuronal networks from human induced pluripotent stem cells.
Gunhanlar N, Shpak G, van der Kroeg M, Gouty-Colomer LA, Munshi ST, Lendemeijer B, Ghazvini M, Dupont C, Hoogendijk WJG, Gribnau J, de Vrij FMS, Kushner SA. Gunhanlar N, et al. Among authors: de vrij fms. Mol Psychiatry. 2018 May;23(5):1336-1344. doi: 10.1038/mp.2017.56. Epub 2017 Apr 18. Mol Psychiatry. 2018. PMID: 28416807 Free PMC article.
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium; Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA. de Vrij FM, et al. Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302076 Free PMC article.
A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease.
Ghanbari M, Munshi ST, Ma B, Lendemeijer B, Bansal S, Adams HH, Wang W, Goth K, Slump DE, van den Hout MCGN, van IJcken WFJ, Bellusci S, Pan Q, Erkeland SJ, de Vrij FMS, Kushner SA, Ikram MA. Ghanbari M, et al. Among authors: de vrij fms. Hum Mutat. 2019 Nov;40(11):2131-2145. doi: 10.1002/humu.23872. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31322790
39 results