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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: miyoshi t. Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. Hum Mol Genet. 2019. PMID: 30602030 Free PMC article.
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.
Kim BJ, Ueyama T, Miyoshi T, Lee S, Han JH, Park HR, Kim AR, Oh J, Kim MY, Kang YS, Oh DY, Yun J, Hwang SM, Kim NKD, Park WY, Kitajiri SI, Choi BY. Kim BJ, et al. Among authors: miyoshi t. J Med Genet. 2019 Dec;56(12):818-827. doi: 10.1136/jmedgenet-2019-106282. Epub 2019 Aug 31. J Med Genet. 2019. PMID: 31473629
1,631 results