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Current progress in genomics and targeted therapies for neurofibromatosis type 2
https://fmu.repo.nii.ac.jp/records/2002074
https://fmu.repo.nii.ac.jp/records/2002074a29a15a3-3542-4fb1-ac8d-920e895251c3
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
FksmJMedSci_69_p95.pdf (1.4 MB)
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| Item type | デフォルトアイテムタイプ（フル）fmu(1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 公開日 | 2023-08-16 | |||||||||||||
| タイトル | ||||||||||||||
| タイトル | Current progress in genomics and targeted therapies for neurofibromatosis type 2 | |||||||||||||
| 言語 | en | |||||||||||||
| 作成者 |
Hiruta, Ryo
× Hiruta, Ryo
× Saito, Kiyoshi
× Bakhit, Mudathir
× Fujii, Masazumi
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| 権利情報 | ||||||||||||||
| 権利情報Resource | https://creativecommons.org/licenses/by-nc-sa/4.0/ | |||||||||||||
| 権利情報 | © 2023 The Fukushima Society of Medical Science. This article is licensed under a Creative Commons [Attribution-NonCommercial-ShareAlike 4.0 International] license. | |||||||||||||
| 内容記述 | ||||||||||||||
| 内容記述タイプ | Abstract | |||||||||||||
| 内容記述 | Neurofibromatosis type 2 (NF2), a multiple neoplasia syndrome, is a manifestation of an impaired expression of the merlin protein, exerting inhibitory effects on cell proliferation signals due to abnormalities of the NF2 gene located on chromosome 22. About half of patients inherit a germline mutation from a parent, and nearly 60% of de novo NF2 patients are estimated to have somatic mosaicism. The development of technical methods to detect NF2 gene mutation, including targeted deep sequencing from multiple tissues, improved the diagnostic rate of mosaic NF2. With improved understanding of genetics and pathogenesis, the diagnostic criteria for NF2 were updated to assist in identifying and diagnosing NF2 at an earlier stage. The understanding of cell signaling pathways interacting with merlin has led to the development of molecular-targeted therapies. Currently, several translational studies are searching for possible therapeutic agents targeting VEGF or VEGF receptors. Bevacizumab, an anti-VEGF monoclonal antibody, is widely used in many clinical trials aiming for hearing improvement or tumor volume control. Currently, a randomized, double-masked trial to assess bevacizumab is underway. In this randomized control trial, 12 other Japanese institutions joined the principal investigators in the clinical trial originating at Fukushima Medical University. In this review, we will be discussing the latest research developments regarding NF2 pathophysiology, including molecular biology, diagnosis, and novel therapeutics. | |||||||||||||
| 出版者 | ||||||||||||||
| 出版者 | The Fukushima Society of Medical Science | |||||||||||||
| 言語 | ||||||||||||||
| 言語 | eng | |||||||||||||
| 書誌情報 |
en : Fukushima Journal of Medical Science 巻 69, 号 2, p. 95-103, 発行日 2023 |
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| 関連情報 | ||||||||||||||
| 関連タイプ | isIdenticalTo | |||||||||||||
| 識別子タイプ | DOI | |||||||||||||
| 関連識別子 | https://doi.org/10.5387/fms.2023-05 | |||||||||||||
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| 識別子タイプ | PMID | |||||||||||||
| 関連識別子 | 37468280 | |||||||||||||
| 関連情報 | ||||||||||||||
| 識別子タイプ | ICHUSHI | |||||||||||||
| 関連識別子 | 2024315148 | |||||||||||||
| 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 | |||||||||||||
| 収録物識別子 | ||||||||||||||
| 収録物識別子タイプ | PISSN | |||||||||||||
| 収録物識別子 | 0016-2590 | |||||||||||||
| 収録物識別子 | ||||||||||||||
| 収録物識別子タイプ | EISSN | |||||||||||||
| 収録物識別子 | 2185-4610 | |||||||||||||
| 収録物識別子 | ||||||||||||||
| 収録物識別子タイプ | NCID | |||||||||||||
| 収録物識別子 | AA0065246X | |||||||||||||
| 主題 | ||||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | neurofibromatosis type 2 | |||||||||||||
| 主題 | ||||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | merlin | |||||||||||||
| 主題 | ||||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | somatic mosaicism | |||||||||||||
| 主題 | ||||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | bevacizumab | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Bevacizumab | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Genomics | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Humans | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Mutation | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Neurofibromatosis 2 | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Neurofibromin 2 | |||||||||||||
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| 主題Scheme | MeSH | |||||||||||||
| 主題 | Randomized Controlled Trials as Topic | |||||||||||||
