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特異な遺伝子形式を持つ家族性ヒルシュスプルング病の遺伝子解析
http://hdl.handle.net/10232/00030311
http://hdl.handle.net/10232/00030311d882f329-72b5-48dc-9103-ec2f2fc02262
名前 / ファイル | ライセンス | アクション |
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DISS_Isk464_Kawano (777.9 kB)
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Result_Kawano_Takafumi_isk_464_2018 (794.4 kB)
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Comments_Kawano_Takafumi_isk_464_2018 (440.5 kB)
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abstract_川野4512800189 (434.3 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2018-07-11 | |||||
タイトル | ||||||
タイトル言語 | en | |||||
タイトル | Identification of a novel variant of the RET proto‑oncogene in a novel family with Hirschsprung’s disease | |||||
タイトル | ||||||
タイトル言語 | ja | |||||
タイトル | 特異な遺伝子形式を持つ家族性ヒルシュスプルング病の遺伝子解析 | |||||
著者 |
川野, 孝文
× 川野, 孝文 |
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言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Hirschsprung’s disease | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Familial | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Short segment | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | RET | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Genome wide association study | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
資源タイプ | doctoral thesis | |||||
アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Purpose: Hirschsprung’s disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach’s and Meissner’s plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. Methods: A Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer. Results: After exome sequencing and the annotation of mutations, we identified co-segregated mutations with sequential filtering steps via a standard protocol. Eight mutations were identified: 2 on chromosome 10 and 6 on chromosome 11. We used pathogenicity prediction tools such as Genomic Evolutionary Rate Profiling, SIFT, and PolyPhen2 to predict the impact of mutations on the protein activity. S922Y, a novel mutation of RET, was identified as a likely causal mutation. In addition, a mutation of rs2435357T, known enhancer of RET located in intron 1 of RET, was detected in this family. Conclusion: The coexistence of RET mutations in both the exon (S922Y) and intron1 (rs2435357T) indicated a risk of HSCR in this family. |
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内容記述言語 | en | |||||
収録雑誌名 |
en : Pediatric Surgery International 巻 33, 号 10, p. 1041-1046, 発行日 2017-10 |
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情報源 | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://link.springer.com/article/10.1007%2Fs00383-017-4134-z | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
NDC | ||||||
主題Scheme | NDC | |||||
主題 | 491 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 博士論文全文, 最終試験結果の要旨, 論文審査の要旨, 博士論文要旨 | |||||
言語 | ja | |||||
公開者・出版者 | ||||||
出版者言語 | ja | |||||
出版者 | 鹿児島大学 | |||||
公開者・出版者 | ||||||
出版者言語 | en | |||||
出版者 | Springer | |||||
公開者・出版者 | ||||||
出版者言語 | ja-Kana | |||||
出版者 | カゴシマ ダイガク | |||||
関連(hasPart) | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://doi.org/10.1007/s00383-017-4134-z | |||||
備考 | ||||||
備考 | 【指導教員:家入里志】 | |||||
学位名 | ||||||
学位名の言語 | ja | |||||
学位名 | 博士(医学) | |||||
学位名 | ||||||
学位名の言語 | en | |||||
学位名 | Doctor of Philosophy in Medical Science | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 17701 | |||||
学位授与機関名の言語 | ja | |||||
学位授与機関名 | 鹿児島大学 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2018-04-26 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲総研第464号 |