| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Research Abstract |
In this study, we performed mutation analysis of the gene encoding filaggrin (FLG) using DNA samples derived from patients with atopic dermatitis. We identified 11 loss-of-function FLG mutations including a novel one and demonstrated that approximately 30% of AD cases carry one or more FLG mutations. Furthermore, we have identified a nonsense mutation in the gene encoding filaggrin 2 (FLG2), which is predicted to have a similar function as filaggrin, using whole-exome sequence analysis. Now the mutation carrier frequency is being analyzed in AD case series.
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