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Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease
https://doi.org/10.18999/nagjms.78.4.485
https://doi.org/10.18999/nagjms.78.4.4855b05bd4d-9d65-466a-bb7d-760661a3fa95
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
24_Noda.pdf (5.8 MB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2016-11-29 | |||||
| タイトル | ||||||
| タイトル | Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease | |||||
| 言語 | en | |||||
| 著者 |
Noda, Kana
× Noda, Kana× Takeichi, Takuya× Okuno, Yusuke× Takama, Hiromichi× Miura, Shunsuke× Kagami, Shinji× Hino, Haruko× Nakamura, Yuki× Fujio, Yumi× Konohana, Izumi× Otani, Ayako× Mukai, Hideki× Sugiura, Kazumitsu× Akiyama, Masashi |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 権利 | ||||||
| 言語 | en | |||||
| 権利情報Resource | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||
| 権利情報 | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | ATP2A2 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Darier’s disease | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | genotype/phenotype correlation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | mutation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | SERCA2 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Darier’s disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes the cardiac muscle SERCA2a protein and the ubiquitously expressed SERCA2b. SERCA2 plays an important role as a calcium pump. It is thought that a mutation in ATP2A2 causes dyskeratosis and abnormality of cell-cell adhesion. Here, we report five DD patients from five independent families who presented or were referred to the Nagoya University Hospital in the past five years. We detected five mutations in ATP2A2, including a previously unreported mutation. We observed no apparent genotype/ phenotype correlation between types and sites of the ATP2A2 mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis from ATP2A2 mutation search is useful for the definite diagnosis of DD, although it is difficult to predict the severity and prognosis of skin symptoms from the results of the ATP2A2 mutation analysis in DD patients. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Nagoya University Graduate School of Medicine, School of Medicine | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| ID登録 | ||||||
| ID登録 | 10.18999/nagjms.78.4.485 | |||||
| ID登録タイプ | JaLC | |||||
| 関連情報 | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/784.html | |||||
| ISSN（print） | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0027-7622 | |||||
| ISSN（Online） | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 2186-3326 | |||||
| 書誌情報 |
en : Nagoya Journal of Medical Science 巻 78, 号 4, p. 485-492, 発行日 2016-11 |
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| 著者版フラグ | ||||||
| 値 | publisher | |||||
| URI | ||||||
| 識別子 | http://hdl.handle.net/2237/25129 | |||||
| 識別子タイプ | HDL | |||||
