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De novo ATP1A3 variants cause polymicrogyria.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. Miyatake S, et al. Among authors: yamashita a. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
ASPP2 regulates epithelial cell polarity through the PAR complex.
Cong W, Hirose T, Harita Y, Yamashita A, Mizuno K, Hirano H, Ohno S. Cong W, et al. Among authors: yamashita a. Curr Biol. 2010 Aug 10;20(15):1408-14. doi: 10.1016/j.cub.2010.06.024. Epub 2010 Jul 8. Curr Biol. 2010. PMID: 20619648 Free article.
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N. Saitsu H, et al. Among authors: yamashita a. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27. Am J Hum Genet. 2011. PMID: 22036171 Free PMC article.
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N. Imagawa E, et al. Among authors: yamashita a. Hum Genet. 2014 Feb;133(2):225-34. doi: 10.1007/s00439-013-1372-6. Epub 2013 Oct 8. Hum Genet. 2014. PMID: 24100632
1,757 results