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The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB. Tona R, et al. Among authors: nakano y. Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. Hum Mol Genet. 2019. PMID: 30602030 Free PMC article.
A claudin-9-based ion permeability barrier is essential for hearing.
Nakano Y, Kim SH, Kim HM, Sanneman JD, Zhang Y, Smith RJ, Marcus DC, Wangemann P, Nessler RA, Bánfi B. Nakano Y, et al. PLoS Genet. 2009 Aug;5(8):e1000610. doi: 10.1371/journal.pgen.1000610. Epub 2009 Aug 21. PLoS Genet. 2009. PMID: 19696885 Free PMC article.
Concentration of the antibacterial precursor thiocyanate in cystic fibrosis airway secretions.
Lorentzen D, Durairaj L, Pezzulo AA, Nakano Y, Launspach J, Stoltz DA, Zamba G, McCray PB Jr, Zabner J, Welsh MJ, Nauseef WM, Bánfi B. Lorentzen D, et al. Among authors: nakano y. Free Radic Biol Med. 2011 May 1;50(9):1144-50. doi: 10.1016/j.freeradbiomed.2011.02.013. Epub 2011 Feb 18. Free Radic Biol Med. 2011. PMID: 21334431 Free PMC article.
3,668 results