| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Research Abstract |
We utilized the genome-wide array CGH and the next generation sequencing to identify new responsible copy number variations or gene mutations. We found that deletions in the region of 1q21.1, 16q12.1q12.2, 16q12.1q13 and 8q12.1q12.3, and mutations of the UPK3A gene and EP300 gene may cause CAKUT. We also developed the comprehensive detection system of gene mutations and copy number variations responsible for CAKUT.
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