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  1. C100 医学部/医学系研究科
  2. C100b 紀要
  3. Nagoya journal of medical science
  4. 78(4)

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.78.4.485
5b05bd4d-9d65-466a-bb7d-760661a3fa95
名前 / ファイル ライセンス アクション
24_Noda.pdf 24_Noda.pdf (5.8 MB)
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
著者 Noda, Kana

× Noda, Kana

WEKO 67690

Noda, Kana

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Takeichi, Takuya

× Takeichi, Takuya

WEKO 67691

Takeichi, Takuya

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Okuno, Yusuke

× Okuno, Yusuke

WEKO 67692

Okuno, Yusuke

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Takama, Hiromichi

× Takama, Hiromichi

WEKO 67693

Takama, Hiromichi

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Miura, Shunsuke

× Miura, Shunsuke

WEKO 67694

Miura, Shunsuke

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Kagami, Shinji

× Kagami, Shinji

WEKO 67695

Kagami, Shinji

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Hino, Haruko

× Hino, Haruko

WEKO 67696

Hino, Haruko

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Nakamura, Yuki

× Nakamura, Yuki

WEKO 67697

Nakamura, Yuki

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Fujio, Yumi

× Fujio, Yumi

WEKO 67698

Fujio, Yumi

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Konohana, Izumi

× Konohana, Izumi

WEKO 67699

Konohana, Izumi

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Otani, Ayako

× Otani, Ayako

WEKO 67700

Otani, Ayako

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Mukai, Hideki

× Mukai, Hideki

WEKO 67701

Mukai, Hideki

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Sugiura, Kazumitsu

× Sugiura, Kazumitsu

WEKO 67702

Sugiura, Kazumitsu

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Akiyama, Masashi

× Akiyama, Masashi

WEKO 67703

Akiyama, Masashi

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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 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.
内容記述タイプ Abstract
出版者
出版者 Nagoya University Graduate School of Medicine, School of Medicine
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
ID登録
ID登録 10.18999/nagjms.78.4.485
ID登録タイプ JaLC
ISSN(print)
収録物識別子タイプ ISSN
収録物識別子 0027-7622
書誌情報 Nagoya Journal of Medical Science

巻 78, 号 4, p. 485-492, 発行日 2016-11
著者版フラグ
値 publisher
URI
識別子 http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/784.html
識別子タイプ URI
URI
識別子 http://hdl.handle.net/2237/25129
識別子タイプ HDL
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