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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: takeyari s. 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.
Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Akiyama T, Kubota T, Ozono K, Michigami T, Kobayashi D, Takeyari S, Sugiyama Y, Noda M, Harada D, Namba N, Suzuki A, Utoyama M, Kitanaka S, Uematsu M, Mitani Y, Matsunami K, Takishima S, Ogawa E, Kobayashi K. Akiyama T, et al. Among authors: takeyari s. Mol Genet Metab. 2018 Sep;125(1-2):174-180. doi: 10.1016/j.ymgme.2018.07.006. Epub 2018 Jul 17. Mol Genet Metab. 2018. PMID: 30049651
Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
Ohata Y, Takeyari S, Nakano Y, Kitaoka T, Nakayama H, Bizaoui V, Yamamoto K, Miyata K, Yamamoto K, Fujiwara M, Kubota T, Michigami T, Yamamoto K, Yamamoto T, Namba N, Ebina K, Yoshikawa H, Ozono K. Ohata Y, et al. Among authors: takeyari s. Osteoporos Int. 2019 Nov;30(11):2333-2342. doi: 10.1007/s00198-019-05076-6. Epub 2019 Jul 29. Osteoporos Int. 2019. PMID: 31363794 Free PMC article.
23 results