Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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Research Abstract |
To elucidate the pathophysiology underlying the progressive cardiac conduction defect(PCCD), PCCD family members were registered, and the clinical features were analyzed. Genetic screening revealed a novel mutation in a gene encoding connexin40(Cx40). The mutant Cx40 showed reduced single channel conductance and impaired plaque formation at the plasma membrane. These data demonstrates that the abnormal cell-cell coupling at the cardiac conduction system is a novel pathophysiology underlying PCCD.
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