2011 Fiscal Year Final Research Report
the research of PKHD1 product FPC in cell signaling related to major ARPKD phenotypes.
| Project/Area Number |
21591029
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Osaka University |
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Principal Investigator |
KAIMORI Junya 大阪大学, 医学系・研究科, 寄附講座准教授 (70527697)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 遺伝子 / 発現制御 / 腎臓 / 細胞内情報伝達 |
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| Research Abstract |
Autosomal recessive polycystic kidney disease(ARPKD) suffers patients in childhood. The disease phenotypes are polycystic kidney, hypertension and hepatic fibrosis. This research project discovers ARPKD gene, PKHD1 product, FPC regulates ubiquichin proteasome pathway. The mutated FPC or PKHD1 inactivation lead to a halt of degradation of important proteins in cell structure, sodium absorption and TGF-beta signaling, causing ARPKD disease phenotypes.
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Research Products
(5 results)
