Item type |
itemtype_ver1(1) |
公開日 |
2021-06-25 |
タイトル |
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タイトル |
Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome |
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言語 |
en |
著者 |
Kaibuchi-Ando, Kaori
Takeichi, Takuya
Ito, Yasutoshi
Takeuchi, So
Yamashita, Yuta
Yamada, Motohito
Muro, Yoshinao
Ogi, Tomoo
Akiyama, Masashi
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アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
権利 |
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言語 |
en |
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権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
キーワード |
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主題Scheme |
Other |
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主題 |
basal cell nevus syndrome |
キーワード |
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主題Scheme |
Other |
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主題 |
mutation |
キーワード |
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主題Scheme |
Other |
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主題 |
PTCH1 |
内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (PTCH1). PTCH1encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of PTCH1mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS. |
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言語 |
en |
出版者 |
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出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
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言語 |
en |
言語 |
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言語 |
eng |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
departmental bulletin paper |
出版タイプ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
ID登録 |
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ID登録 |
10.18999/nagjms.83.2.393 |
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ID登録タイプ |
JaLC |
関連情報 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
URI |
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関連識別子 |
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/832.html |
収録物識別子 |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0027-7622 |
収録物識別子 |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
2186-3326 |
書誌情報 |
en : Nagoya Journal of Medical Science
巻 83,
号 2,
p. 393-396,
発行日 2021-05
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