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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. Marafi D, et al. Among authors: meijer d. Am J Hum Genet. 2022 Sep 1;109(9):1713-1723. doi: 10.1016/j.ajhg.2022.07.006. Epub 2022 Aug 9. Am J Hum Genet. 2022. PMID: 35948005 Free PMC article.
14-3-3 proteins stabilize LGI1-ADAM22 levels to regulate seizure thresholds in mice.
Yokoi N, Fukata Y, Okatsu K, Yamagata A, Liu Y, Sanbo M, Miyazaki Y, Goto T, Abe M, Kassai H, Sakimura K, Meijer D, Hirabayashi M, Fukai S, Fukata M. Yokoi N, et al. Among authors: meijer d. Cell Rep. 2021 Dec 14;37(11):110107. doi: 10.1016/j.celrep.2021.110107. Cell Rep. 2021. PMID: 34910912 Free article.
LGI proteins in the nervous system.
Kegel L, Aunin E, Meijer D, Bermingham JR. Kegel L, et al. Among authors: meijer d. ASN Neuro. 2013 Jun 25;5(3):167-81. doi: 10.1042/AN20120095. ASN Neuro. 2013. PMID: 23713523 Free PMC article. Review.
Zeb2 is essential for Schwann cell differentiation, myelination and nerve repair.
Quintes S, Brinkmann BG, Ebert M, Fröb F, Kungl T, Arlt FA, Tarabykin V, Huylebroeck D, Meijer D, Suter U, Wegner M, Sereda MW, Nave KA. Quintes S, et al. Among authors: meijer d. Nat Neurosci. 2016 Aug;19(8):1050-1059. doi: 10.1038/nn.4321. Epub 2016 Jun 13. Nat Neurosci. 2016. PMID: 27294512 Free PMC article.
Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling.
Ozkaynak E, Abello G, Jaegle M, van Berge L, Hamer D, Kegel L, Driegen S, Sagane K, Bermingham JR Jr, Meijer D. Ozkaynak E, et al. Among authors: meijer d. J Neurosci. 2010 Mar 10;30(10):3857-64. doi: 10.1523/JNEUROSCI.6287-09.2010. J Neurosci. 2010. PMID: 20220021 Free PMC article.
582 results