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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: sugie a. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T. Iida T, et al. Among authors: sugie a. Front Genet. 2024 Mar 27;15:1383176. doi: 10.3389/fgene.2024.1383176. eCollection 2024. Front Genet. 2024. PMID: 38601074 Free PMC article.
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: sugie a. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
Manipulating the functionality and structures of π-conjugated polymers utilizing intramolecular noncovalent interactions towards efficient organic photovoltaics.
Kamimura S, Saito M, Teshima Y, Yamanaka K, Ichikawa H, Sugie A, Yoshida H, Jeon J, Kim HD, Ohkita H, Mikie T, Osaka I. Kamimura S, et al. Among authors: sugie a. Chem Sci. 2024 Mar 25;15(17):6349-6362. doi: 10.1039/d4sc00899e. eCollection 2024 May 1. Chem Sci. 2024. PMID: 38699251 Free PMC article.
88 results