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| hgv.2015.14.pdf | 1.42 MB | Adobe PDF | 見る/開く |
| タイトル: | A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung |
| 著者: | Miyata, Ryo Kurosawa, Manabu Sato, Masaaki Kono, Tomoya Takubo, Yasutaka Okai, Shinsaku Yamada, Keisuke Shinkura, Reiko Date, Hiroshi Matsuda, Fumihiko   |
| 著者名の別形: | 宮田, 亮 黒澤, 学 佐藤, 雅昭 河野, 朋哉 田久保, 康隆 伊達, 洋至 松田, 文彦 |
| 発行日: | 11-Jun-2015 |
| 出版者: | Nature Publishing Group |
| 誌名: | Human Genome Variation |
| 巻: | 2 |
| 論文番号: | 15014 |
| 抄録: | Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient. |
| 著作権等: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| URI: | http://hdl.handle.net/2433/245649 |
| DOI(出版社版): | 10.1038/hgv.2015.14 |
| PubMed ID: | 27081528 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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