| 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 |
Mutation analysis in a patient with congenital ichthyosiform erythroderma who carries no mutation in any of the known causative genes was performed using whole-exome sequencing. No causative mutation was indeed identified in any of the known causative genes including TGM1, ABCA12, NIPAL4, CYP4F22, ALOXB12, ALOXE3. mRNA expression levels were subsequently analyzed, but no decrease in the expression levels were detected. Further mutation analysis of genes encoding keratinization-related proteins identified a mutation in KRT10. Now the pathogenicity of the mutation is being analyzed.
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