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Page 1
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: maki r. Sci Rep. 2023 Jan 18;13(1):975. doi: 10.1038/s41598-023-27770-6. Sci Rep. 2023. PMID: 36653413 Free PMC article.
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: maki r. Sci Rep. 2023 Mar 9;13(1):3954. doi: 10.1038/s41598-023-30968-3. Sci Rep. 2023. PMID: 36894578 Free PMC article. No abstract available.
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. 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: maki r. Front Genet. 2024 Mar 27;15:1383176. doi: 10.3389/fgene.2024.1383176. eCollection 2024. Front Genet. 2024. PMID: 38601074 Free PMC article.
Receptor-independent regulation of Gα13 by alpha-1-antitrypsin C-terminal peptides.
Park Y, Matsumoto S, Ogata K, Ma B, Kanada R, Isaka Y, Arichi N, Liang X, Maki R, Kozasa T, Okuno Y, Ohno H, Ishihama Y, Toyoshima F. Park Y, et al. Among authors: maki r. J Biol Chem. 2024 Dec 25:108136. doi: 10.1016/j.jbc.2024.108136. Online ahead of print. J Biol Chem. 2024. PMID: 39730062 Free article.
Surgical Management of Sarcoma Metastatic to Liver.
Ecker BL, Maki RG, Cavnar MJ, DeMatteo RP. Ecker BL, et al. Among authors: maki rg. Hematol Oncol Clin North Am. 2025 Feb;39(1):55-65. doi: 10.1016/j.hoc.2024.08.002. Hematol Oncol Clin North Am. 2025. PMID: 39510677 Review.
557 results