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Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin
https://asahikawa-med.repo.nii.ac.jp/records/346
https://asahikawa-med.repo.nii.ac.jp/records/34601781d18-189d-4d85-a375-f52a731e2072
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
436.pdf (584.2 kB)
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| Item type | 学術雑誌論文 / Journal Article_02(1) | |||||||||
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| 公開日 | 2007-04-12 | |||||||||
| タイトル | ||||||||||
| タイトル | Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin | |||||||||
| 言語 | en | |||||||||
| 言語 | ||||||||||
| 言語 | eng | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ | journal article | |||||||||
| 著者 |
山本, 明美
× 山本, 明美
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| 著者 ローマ字 | ||||||||||
| Yamamoto(Ishida), Akemi | ||||||||||
| 書誌情報 |
Journal of Dermatological Science 巻 31, 号 1, p. 3-8, 発行日 2003-02-01 |
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| ISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 0923-1811 | |||||||||
| DOI | ||||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | 10.1016/S0923-1811(02)00143-3 | |||||||||
| リンクURL | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | http://www.sciencedirect.com/science/journal/09231811 | http://www.sciencedirect.com/science/journal/09231811 | |||||||||
| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Loricrin is the major protein of the cornified cell envelope, a structure that replaces the plasma membrane during keratinocyte terminal differentiation. Recently, unique heterozygous, insertion mutations in the loricrin gene have been found to underlie certain congenital skin abnormalities, the phenotypes of which vary considerably. Clinically, these patients can be diagnosed as suffering from an ichthyotic variant of Vohwinkel's syndrome, progressive symmetric erythrokeratoderma, or congenital ichthyosiform erythroderma born as a collodion baby. Common clinical features include hyperkeratosis of the palms and soles with digital constriction. Histologic characteristics are parakeratotic hyperkeratosis with hypergranulosis and nuclear accumulation of mutant loricrin. The unique mutations in the glycine rich domain of the mutant loricrin form arginine rich nuclear localization sequences that disrupts differentiation of keratinocytes. This group of unique genodermatoses caused by distinct loricrin mutations is collectively termed loricrin keratoderma. | |||||||||
| 注記 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 注記 | Elsevier Science Ireland Ltd., Akemi Ishida-Yamamoto, Journal of Dermatological Science, 31(1), 2003, 3-8. \nauthor |
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| 資源タイプ | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 資源タイプ | text | |||||||||
| フォーマット | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | application/pdf | |||||||||
| ID(XooNIps) | ||||||||||
| 12615358 | ||||||||||
| 閲覧数(XooNIps) | ||||||||||
| ダウンロード数(XooNIps) | ||||||||||
| 1159 | ||||||||||
