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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: hirose t. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N. Miyake N, et al. Among authors: hirose t. Am J Hum Genet. 2020 Jan 2;106(1):13-25. doi: 10.1016/j.ajhg.2019.11.011. Epub 2019 Dec 12. Am J Hum Genet. 2020. PMID: 31839203 Free PMC article.
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N. Miyake N, et al. Among authors: hirose t. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24. Am J Hum Genet. 2015. PMID: 26411495 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005360
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: hirose t. 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.
2,683 results