| アイテムタイプ |
文献 / Documents(1) |
| 公開日 |
2016-02-29 |
| アクセス権 |
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アクセス権 |
open access |
| 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 |
journal article |
| 出版社版DOI |
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関連識別子 |
http://link.springer.com/content/pdf/10.1007%2Fs12022-014-9318-7.pdf |
| 出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| タイトル |
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タイトル |
A novel C-terminal nonsense mutation, Q315X, of the aryl hydrocarbon receptor-interacting protein gene in a Japanese familial isolated pituitary adenoma family |
| 著者 |
岩田, 武男
WEKO
1264
e-Rad_Researcher
10350399
| ja |
岩田, 武男
岩田, 武男
ISNI
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| ja-Kana |
イワタ, タケオ
イワタ, タケオ
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| en |
Iwata, Takeo
Iwata, Takeo
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Search repository
ヤマダ, ショウゾウ
イトウ, ジュンコ
イノシタ, ナオコ
水澤, 典子
オノ, シンジ
吉本, 勝彦
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| 抄録 |
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内容記述 |
Although the cause of familial isolated pituitary adenoma (FIPA) remains unknown in many cases, germ-line mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene were identified in approximately 20% of families with FIPA. We investigated the AIP gene mutation by a standard sequencing method in 12 members of a Japanese two-generation FIPA family, which includes 3 patients with early-onset acromegaly. Multiplex ligation-dependent probe amplification analysis in a tumor sample was attempted to examine the loss of heterozygosity (LOH) in the locus. The effect of the detected mutation on cell proliferation was investigated. A germ-line mutation of c.943C>T (p.Q315X) generating an AIP protein with the C-terminal end deleted was found in the FIPA family. Biallelic inactivation of AIP by a combination of the germ-line mutation and LOH at 11q13 was confirmed in the tumor. The nonsense mutation disrupted the ability to inhibit cell proliferation. We conclude that p.Q315X mutation in the AIP gene is a pathogenic variant and the C-terminal region of AIP plays an important role in the predisposition to pituitary adenomas. |
| キーワード |
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主題 |
familial isolated pituitary adenoma |
| キーワード |
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主題 |
acromegaly |
| キーワード |
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主題 |
aryl hydrocarbon receptor-interacting protein |
| キーワード |
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主題 |
loss of heterozygosity |
| 書誌情報 |
en : Endocrine Pathology
巻 25,
号 3,
p. 273-281,
発行日 2014-09
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
10463976 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA10803175 |
| 備考 |
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値 |
The final publication is available at Springer via http://dx.doi.org/10.1007/s12022-014-9318-7. |
| 権利情報 |
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権利情報 |
© Springer Science+Business Media New York 2014 |
| EID |
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識別子 |
280807 |
| 言語 |
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言語 |
eng |
LID201602262005.pdf (760 KB)
