| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Outline of Final Research Achievements |
Fibroblast growth factor 23 is a bone-derived phosphaturic hormone. The purpose of this study was to clarify the mechanism of FGF23 synthesis by identifying novel genes associated with FGF23-related hypophosphatemic diseases. As a result, I have found 3 novel and 5 reported mutations in the PHEX gene in 9 patients from 8 families with FGF23-related hypophosphatemic rickets, and have confirmed that X-linked hypophosphatemic rickets is the most commonly inherited form of FGF23-related hypophosphatemic rickets in Japan. Additionally, I have performed RNA sequencing of a tumor responsible for tumor-induced osteomalacia and have analyzed the regulatory mechanisms of gene expression in the tumor.
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