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SLITRK6 mutations cause myopia and deafness in humans and mice.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. Tekin M, et al. Among authors: matsumoto y. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. J Clin Invest. 2013. PMID: 23543054 Free PMC article.
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
Tomioka NH, Yasuda H, Miyamoto H, Hatayama M, Morimura N, Matsumoto Y, Suzuki T, Odagawa M, Odaka YS, Iwayama Y, Won Um J, Ko J, Inoue Y, Kaneko S, Hirose S, Yamada K, Yoshikawa T, Yamakawa K, Aruga J. Tomioka NH, et al. Among authors: matsumoto y. Nat Commun. 2014 Jul 22;5:4501. doi: 10.1038/ncomms5501. Nat Commun. 2014. PMID: 25047565 Free article.
Slitrk2 deficiency causes hyperactivity with altered vestibular function and serotonergic dysregulation.
Katayama KI, Morimura N, Kobayashi K, Corbett D, Okamoto T, Ornthanalai VG, Matsunaga H, Fujita W, Matsumoto Y, Akagi T, Hashikawa T, Yamada K, Murphy NP, Nagao S, Aruga J. Katayama KI, et al. Among authors: matsumoto y. iScience. 2022 Jun 14;25(7):104604. doi: 10.1016/j.isci.2022.104604. eCollection 2022 Jul 15. iScience. 2022. PMID: 35789858 Free PMC article.
6,213 results