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Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.
Ohata Y, Kakimoto H, Seki Y, Ishihara Y, Nakano Y, Yamamoto K, Takeyari S, Fujiwara M, Kitaoka T, Takakuwa S, Kubota T, Ozono K. Ohata Y, et al. Among authors: ishihara y. Bone Rep. 2022 Nov 10;17:101637. doi: 10.1016/j.bonr.2022.101637. eCollection 2022 Dec. Bone Rep. 2022. PMID: 36407415 Free PMC article.
Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.
Ishihara Y, Ohata Y, Takeyari S, Kitaoka T, Fujiwara M, Nakano Y, Yamamoto K, Yamada C, Yamamoto K, Michigami T, Mabe H, Yamaguchi T, Matsui K, Tamada I, Namba N, Yamamoto A, Etoh J, Kawaguchi A, Kosugi R, Ozono K, Kubota T. Ishihara Y, et al. Bone. 2021 Dec;153:116135. doi: 10.1016/j.bone.2021.116135. Epub 2021 Jul 30. Bone. 2021. PMID: 34333162 Free article.
Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role.
Yamamoto H, Miyashita Y, Minamiguchi H, Hosomichi K, Yoshida S, Kioka H, Shinomiya H, Nagata H, Onoue K, Kawasaki M, Kuramoto Y, Nomura A, Toma Y, Watanabe T, Yamada T, Ishihara Y, Nagata M, Kato H, Hakui H, Saito Y, Asano Y, Sakata Y. Yamamoto H, et al. Among authors: ishihara y. Sci Rep. 2023 Nov 13;13(1):19767. doi: 10.1038/s41598-023-46915-1. Sci Rep. 2023. PMID: 37957180 Free PMC article.
HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: ishihara y. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Kurosaka H, Yamamoto S, Hirasawa K, Yanagishita T, Fujioka K, Yagasaki H, Nagata M, Ishihara Y, Yonei A, Asano Y, Nagata N, Tsujimoto T, Inubushi T, Yamamoto T, Sakai N, Yamashiro T. Kurosaka H, et al. Among authors: ishihara y. Am J Med Genet A. 2023 Jul;191(7):1984-1989. doi: 10.1002/ajmg.a.63225. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141439
1,144 results