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WNT10A variants isolated from Japanese patients with congenital tooth agenesis.
Machida J, Goto H, Tatematsu T, Shibata A, Miyachi H, Takahashi K, Izumi H, Nakayama A, Shimozato K, Tokita Y. Machida J, et al. Among authors: nakayama a. Hum Genome Var. 2017 Nov 9;4:17047. doi: 10.1038/hgv.2017.47. eCollection 2017. Hum Genome Var. 2017. PMID: 29367877 Free PMC article.
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region.
Yonezawa S, Yoshizaki N, Kageyama T, Takahashi T, Sano M, Tokita Y, Masaki S, Inaguma Y, Hanai A, Sakurai N, Yoshiki A, Kusakabe M, Moriyama A, Nakayama A. Yonezawa S, et al. Among authors: nakayama a. Hum Mutat. 2006 Jan;27(1):88-97. doi: 10.1002/humu.20266. Hum Mutat. 2006. PMID: 16281288
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.
Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, Tokita Y. Tatematsu T, et al. Among authors: nakayama a. PLoS One. 2015 Jun 1;10(6):e0128227. doi: 10.1371/journal.pone.0128227. eCollection 2015. PLoS One. 2015. PMID: 26030286 Free PMC article.
Identification of nuclear localization signals in the human homeoprotein MSX1.
Shibata A, Machida J, Yamaguchi S, Kimura M, Tatematsu T, Miyachi H, Nakayama A, Shimozato K, Tokita Y. Shibata A, et al. Among authors: nakayama a. Biochem Cell Biol. 2018 Aug;96(4):483-489. doi: 10.1139/bcb-2017-0263. Epub 2017 Nov 20. Biochem Cell Biol. 2018. PMID: 29156143
908 results