| Project/Area Number |
26461546
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
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| Research Collaborator |
Fujimoto Masanobu 鳥取大学, 医学部周産期・小児医学, 助教
Hasegawa Akiko 鳥取大学, 医学部周産期・小児医学, 技術補佐員
Hanaki Keiichi 鳥取大学, 医学部保健学科母性・小児家族看護学講座, 教授 (20238041)
Kanzaki Susumu 鳥取大学, 医学部周産期・小児医学, 教授 (90224873)
Nanba Eiji 鳥取大学, 遺伝子探索分野, 教授 (40237631)
Adachi Kaori 鳥取大学, 遺伝子探索分野, 助教 (50609237)
Takahashi Shin-ichiro 東京大学, 農学生命科学研究科, 准教授 (00197146)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2016: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 成長障害 / GH-IGFシグナル / 遺伝子異常 / GH-IGF系経路関連蛋白 / 遺伝子解析 / 病態解明 / 次世代シークエンス |
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| Outline of Final Research Achievements |
Targeted resequencing was carried out 19 samples using TruSight One sequencing panels. which included 4,813 genes associated with known clinical phenotypes, as previously described We analyzed genes (including GH, GHR, STAT 5, STAT 3, IGF1R, IGF1, IGF2, IGFBP3, IGFALS, IRS1, and IRS2) associated with GH-IGF signals on the panel. We identified both heterozygous IGFALS mutation and IRS1 mutation in 1 case. Functional analysis revealed that both IRS1 mutation and IGFALS mutation result in growth failure. We are applying to publish the journal. Furthermore, heterozygous IGFBP5 mutation, and IGF 2 mutation were identified in each 1 case. We are under functional analysis for those.
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