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副甲状腺機能亢進症 : 顎腫瘍症候群
https://tokushima-u.repo.nii.ac.jp/records/2003082
https://tokushima-u.repo.nii.ac.jp/records/2003082fc0b3a19-3cb5-4e39-91ed-ee18563a95c9
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
LID201609012003.pdf (1.1 MB)
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| Item type | 文献 / Documents(1) | |||||||||||||||||||||||
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| 公開日 | 2016-09-01 | |||||||||||||||||||||||
| アクセス権 | ||||||||||||||||||||||||
| アクセス権 | open access | |||||||||||||||||||||||
| 資源タイプ | ||||||||||||||||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||||||||
| 資源タイプ | journal article | |||||||||||||||||||||||
| 出版タイプ | ||||||||||||||||||||||||
| 出版タイプ | VoR | |||||||||||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||||||||||||||||
| タイトル | ||||||||||||||||||||||||
| タイトル | 副甲状腺機能亢進症 : 顎腫瘍症候群 | |||||||||||||||||||||||
| タイトル | ||||||||||||||||||||||||
| タイトル | フクコウジョウセン キノウ コウシンショウ : ガク シュヨウ ショウコウグン | |||||||||||||||||||||||
| タイトル別表記 | ||||||||||||||||||||||||
| その他のタイトル | Hyperparathyroidism : Jaw Tumor Syndrome | |||||||||||||||||||||||
| 著者 |
吉本, 勝彦
× 吉本, 勝彦
WEKO
1648
× 水澤, 典子
WEKO
1255
× 岩田, 武男× 小野, 信二
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| 抄録 | ||||||||||||||||||||||||
| 内容記述 | The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in association with ossifying fibromas of the maxilla and/or mandible. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. Ossifying fibroma occurs in about 30% of individuals with HPT-JT syndrome. Many patients with HPT-JT syndrome present with a single benign parathyroid tumor; however, the optimal surgical approach to primary hyperparathyroidism has not yet been established. The gene responsible for HPT-JT syndrome on 1q31.2, known as CDC73 (formerly known as HRPT2), was identified and encodes a 531-amino acid protein known as parafibromin. Germline CDC73 mutations are detected in patients with HPT-JT syndrome, and majority (>75%) of mutations predict premature truncation of the parafibromin, and the demonstration of loss of heterozygosity at the CDC73 locus in tumors is consistent with a tumor suppressor role. Approximately 20% of patients with apparently sporadic parathyroid cancer are found to have germline CDC73 mutations, suggesting that such cases may, in fact, represent undiagnosed HPT-JT syndrome. Parafibromin is known to act as a tumor suppressor that inhibits expression of cyclin D1 and c-myc by recruiting histone methyltransferase. On the other hand, parafibromin can act in the opposing direction by binding β-catenin, thereby activating oncogenic Wnt signaling. Furthermore, parafibromin acts as a positive regulator of cell growth similar to an oncoprotein in the presence of SV40 large T antigen. These results suggest the context-dependent oncogenic or tumor- suppressor functions of parafibromin. | |||||||||||||||||||||||
| キーワード | ||||||||||||||||||||||||
| 主題 | HPT-JT | |||||||||||||||||||||||
| キーワード | ||||||||||||||||||||||||
| 主題 | 原発性副甲状腺機能亢進症 | |||||||||||||||||||||||
| キーワード | ||||||||||||||||||||||||
| 主題 | 骨形成性線維腫 | |||||||||||||||||||||||
| キーワード | ||||||||||||||||||||||||
| 主題 | CDC73 | |||||||||||||||||||||||
| キーワード | ||||||||||||||||||||||||
| 主題 | パラフィブロミン | |||||||||||||||||||||||
| 書誌情報 |
ja : 四国歯学会雑誌 巻 27, 号 1, p. 35-39, 発行日 2014-06-30 |
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| 収録物ID | ||||||||||||||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||||||||||||||
| 収録物識別子 | 09146091 | |||||||||||||||||||||||
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| 収録物識別子タイプ | NCID | |||||||||||||||||||||||
| 収録物識別子 | AN10050046 | |||||||||||||||||||||||
| 出版者 | ||||||||||||||||||||||||
| 出版者 | 四国歯学会 | |||||||||||||||||||||||
| EID | ||||||||||||||||||||||||
| 識別子 | 280836 | |||||||||||||||||||||||
| 言語 | ||||||||||||||||||||||||
| 言語 | jpn | |||||||||||||||||||||||
