지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 1,136 - 1,142 (7page)
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초록· 키워드
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Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean atopic dermatitis (AD) patients has been performed. This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients. The study was made up of three groups including 9 Ichthyosis vulgaris (IV) patients, 50 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and IV. In comparison to other sequencing methods, the overlapping long-range PCR was used. We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. By using FLG sequencing techniques confirmed in this study, new mutations or genetic polymorphisms with ethnic characteristics would be detected and further larger studies of repeat number polymorphisms could be performed.
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참고문헌 (24)
참고문헌 신청
Dale BA / 1997 / Transient expression of epidermal filaggrin in cultured cells causes collapse of intermediate filament networks with alteration of cell shape and nuclear integrity / J Invest Dermatol 108:179~187
Thyssen JP / 2014 / Causes of epidermal filaggrin reduction and their role in the pathogenesis of atopic dermatitis / J Allergy Clin Immunol 134:792~799
Gruber R / 2011 / Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function / Am J Pathol 178:2252~2263
Brown SJ / 2012 / Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect / J Invest Dermatol 132:98~104
Gan SQ / 1990 / Organization, structure, and polymorphisms of the human profilaggrin gene / Biochemistry 29:9432~9440
Thyssen JP / 2014 / Causes of epidermal filaggrin reduction and their role in the pathogenesis of atopic dermatitis / J Allergy Clin Immunol 134:792~799
Gruber R / 2011 / Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function / Am J Pathol 178:2252~2263
Brown SJ / 2012 / Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect / J Invest Dermatol 132:98~104
Gan SQ / 1990 / Organization, structure, and polymorphisms of the human profilaggrin gene / Biochemistry 29:9432~9440
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