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Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor
http://hdl.handle.net/2298/9081
http://hdl.handle.net/2298/908116a50ece-70d6-40f8-ba38-4579a8184281
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Reposit-JJHG-97YI.pdf (280.7 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2008-08-07 | |||||
| タイトル | ||||||
| タイトル | Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | 先天性無痛無汗症, 遺伝性感覚自律神経性ニューロパシー IV 型, 神経成長因子, 神経成長因子受容体, チロシンキナーゼ型神経成長因子受容体, TRKA 遺伝子, NTRK1 遺伝子 congenital insensitivity to pain with anhidrosis, hereditary sensory and autonomic neuropathy type IV, nerve growth factor, NGF, nerve growth factor receptor, receptor tyrosine kinase for NGF, TRKA gene, NTRK1 gene |
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| 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 | |||||
| 著者 |
Indo, Yasuhiro
× Indo, Yasuhiro× Mardy, Sek× Tsuruta, Motoko× Karim, Mohammad Azharul× 松田, 一郎 |
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| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. TRKA, a receptor tyrosine kinase cloned from a human colon cancer was later found to be expressed in the nervous system and phosphorylated in response to NGF. Somatic rearrangement(s) of the TRKA gene (also designated NTRK1) are responsible for formation of some oncogenes. Genetic defects in TRKA are responsible for a human disorder, congenital insensitivity to pain with anhidrosis (CIPA). We report here isolation and characterization of the TRKA gene which spans at least 23 kb and is split into 17 exons. Exon sizes range from 18 to 394 bp and intron sizes range from 170 bp to at least 3.3 kb. Sizes and boundaries of the exons were determined, and all the splice donor and acceptor sites conformed to the GT/AG rule. Approximately 1.2 kb of the 5'-flanking regions was sequenced, and putative regulatory elements were identified. These results will be useful for studies on the developmental and biological regulation of the TRKA gene and for further characterization of mutations in CIPA patients as well as elucidation of mechanisms responsible for rearrangement(s) observed in human tumors. | |||||
| 書誌情報 |
Japanese Journal of Human Genetics 巻 42, 号 2, p. 343-351, 発行年 1997-06 |
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| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA10830349 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | http://doi.org/10.1007/bf02766957 | |||||
| 情報源(ISSN) | ||||||
| 関連名称 | 09168478 | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 形態 | ||||||
| 値 | 280678 bytes | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| 日本十進分類法 | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 493.937 | |||||
| 出版者 | ||||||
| 出版者 | Japan Society of Human Genetics | |||||
| 出版者 | ||||||
| 出版者 | Springer Verlag | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 論文(Article) | |||||
| 資源タイプ・ローカル | ||||||
| 値 | 雑誌掲載論文 | |||||
| 資源タイプ・NII | ||||||
| 値 | Journal Article | |||||
| 資源タイプ・DCMI | ||||||
| 値 | text | |||||
| 資源タイプ・ローカル表示コード | ||||||
| 値 | 01 | |||||
| コメント | ||||||
| 値 | The original publication is available at www.springerlink.com and http://jshg.jp/ | |||||
