日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Characterization of a Novel Col1a1(G643S/+) Osteogenesis Imperfecta Mouse Model with Insights into Skeletal Phenotype, Fragility, and Therapeutic Evaluations.

对新型 Col1a1(G643S/+) 成骨不全小鼠模型进行表征,深入了解骨骼表型、脆弱性和治疗评价

Saitou Hiroyuki, Ohata Yasuhisa, Takeyari Shinji, Nishizawa Chiaki, Nakayama Hirofumi, Fujiwara Makoto, Kitabatake Yasuji, Kubota Takuo, Ozono Keiichi

Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study

骨小梁评分和骨矿物质表观密度与成骨不全患儿及青少年骨脆性程度的相关性:一项横断面研究

Ohata, Yasuhisa; Kitaoka, Taichi; Ishimi, Takeshi; Yamada, Chieko; Nakano, Yukako; Yamamoto, Kenichi; Takeyari, Shinji; Nakayama, Hirofumi; Fujiwara, Makoto; Kubota, Takuo; Ozono, Keiichi

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant

一例由母系单亲二体遗传的GALNT3变异体引起的家族性高磷血症性肿瘤性钙质沉着症

Nishimura-Kinoshita, Naoko; Ohata, Yasuhisa; Sawai, Hiromi; Izawa, Masako; Takeyari, Shinji; Kubota, Takuo; Omae, Yosuke; Ozono, Keiichi; Tokunaga, Katsushi; Hamajima, Takashi

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4

一个患有短指畸形智力低下综合征的家族,其HDAC4基因存在错义变异

Takeyari, Shinji; Yamamoto, Kenichi; Fujiwara, Makoto; Ohata, Yasuhisa; Kitaoka, Taichi; Kubota, Takuo; Nagata, Miho; Ishihara, Yasuki; Miyashita, Yohei; Asano, Yoshihiro; Ozono, Keiichi

Phosphate promotes osteogenic differentiation through non-canonical Wnt signaling pathway in human mesenchymal stem cells

磷酸盐通过非经典Wnt信号通路促进人间充质干细胞成骨分化

Shumin Rui, Takuo Kubota, Yasuhisa Ohata, Kenichi Yamamoto, Makoto Fujiwara, Shinji Takeyari, Keiichi Ozono

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

GNAS基因的致病性变异在Gsα的β6链/α5螺旋中引入异常氨基酸序列,导致两个互不相关的日本家族分别患上1A型假性甲状旁腺功能减退症和假性假性甲状旁腺功能减退症。

Ohata, Yasuhisa; Kakimoto, Haruna; Seki, Yuko; Ishihara, Yasuki; Nakano, Yukako; Yamamoto, Kenichi; Takeyari, Shinji; Fujiwara, Makoto; Kitaoka, Taichi; Takakuwa, Satoshi; Kubota, Takuo; Ozono, Keiichi

4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts

4-苯基丁酸增强成骨不全症 iPSC 衍生成骨细胞的矿化

Shinji Takeyari, Takuo Kubota, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Yuki Taga, Kazunori Mizuno, Keiichi Ozono

Neonatal cholestasis can be the first symptom of McCune-Albright syndrome: A case report

新生儿胆汁淤积症可能是McCune-Albright综合征的首发症状:病例报告

Satomura, Yoshinori; Bessho, Kazuhiko; Kitaoka, Taichi; Takeyari, Shinji; Ohata, Yasuhisa; Kubota, Takuo; Ozono, Keiichi

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

使用靶向下一代测序和基因型-表型相关性对 53 名日本成骨不全症患者进行全面的基因分析

Y Ohata, S Takeyari, Y Nakano, T Kitaoka, H Nakayama, V Bizaoui, K Yamamoto, K Miyata, K Yamamoto, M Fujiwara, T Kubota, T Michigami, K Yamamoto, T Yamamoto, N Namba, K Ebina, H Yoshikawa, K Ozono3