| Project/Area Number |
25893131
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Kobe University |
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Principal Investigator |
KANDAI Nozu 神戸大学, 医学部附属病院, 講師 (70362796)
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| Co-Investigator(Kenkyū-buntansha) |
IIJIMA Kazumoto 神戸大学, 大学院医学研究科・内科系講座小児科, 教授 (00240854)
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| Co-Investigator(Renkei-kenkyūsha) |
SHONO Akemi 神戸大学, 大学院医学研究科・内科系講座小児科, 技術補佐員 (10535066)
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| Project Period (FY) |
2013-08-30 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 遺伝性腎疾患 / ナンセンスリードスルー療法 / エクソンスキッピング / ナンセンスリードスルー / 小児腎臓病学 |
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| Outline of Final Research Achievements |
1. We conducted the genetic analysis for 250 suspected Alport syndrome family members and conducted the genotype-phenotype analysis. 2.From patients urine samples, we collected the urinary sediment cells and cultured those cells, and made the disease specific cell lines for the further experiment. 3.We conducted the immunohistochemical analysis of type IV collagen alpha 5 chain (a5) expression and identified that patients with truncating mutations don't express a5, on the contrary, patients with non-truncating mutations express a5. 4. We designed the antisense-oligonucleotide and tried to lead to exon skipping for some of the specific exons. One of them introduced the exon skipping and possibly lead truncating mutations to non-truncating mutations.
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