1995 Fiscal Year Final Research Report Summary
Analysis of skin disease gene and its modeling
| Project/Area Number |
06670874
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
YAMANISHI Kiyofumi Kyoto Prefectural University of Medicine, Department of Dermatology, Assistant, Professor, 医学部, 講師 (10182586)
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| Project Period (FY) |
1994 – 1995
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| Keywords | skin diseases / keratinocytes / gene analysis / gene regulation / gene targeting / transglutaminase 1 / keratin / hereditary diseases |
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| Research Abstract |
Great progress is being made in the elucidation of disease genes, especially in hereditary skin diseases, by genome analysis, including functional and positional cloning. In more than 50 skin disorders, not only the chromosomal localizations, but also the adnormalities of the disease genes have been identified. The isolation of disease genes and their model mice is expected to revolutionize our understanding of the pathogenesis and diagnosis of these skin disorders and to provide a way for therapy. In this research, we have analyzed the structure and function of transglutaminase 1 gene, a disease gene for autosomal recessive lamellar ichthyosis. A gene-targeting model for the disease gene will be helpful for development of gene therapy for the hereditary skin disorder.
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