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Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
http://hdl.handle.net/2298/9067
http://hdl.handle.net/2298/906770a6b6f7-8474-41e2-aa19-4cd2fd4d3ce2
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Reposit-NG-96YI.pdf (858.8 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2008-08-06 | |||||
| タイトル | ||||||
| タイトル | Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | congenital insensitivity to pain with anhidrosis, 先天性無痛無汗症, hereditary sensory and autonomic neuropathy type IV, nerve growth factor, NGF, nerve growth factor receptor, receptor tyrosine kinase for NGF, TRKA gene, NTRK1 gene, 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 | |||||
| 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× Tsuruta, Motoko× Hayashida, Yumi× Karim, Mohammad Azharul× Ohta, Kohji× Kawano, Tomoyasu× Mitsubuchi, Hiroshi× Tonoki, Hidefumi× Awaya, Yutaka× 松田, 一郎 |
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| 別言語の著者 |
犬童, 康弘
× 犬童, 康弘 |
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| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is an autosomal-recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis (absence of sweating) and absence of reaction to noxious stimuli, self-mutilating behaviour and mental retardation1−3. The genetic basis for CIPA is unknown. Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons4. Mice lacking the gene for TrkA, a receptor tyrosine kinase for NGF5,6, share dramatic phenotypic features of CIPA, including loss of responses to painful stimuli, although anhidrosis is not apparent in these animals7. We therefore considered the human TRKA homologue as a candidate for the CIPA gene. The mRNA and genomic DNA encoding TRKA were analysed in three unrelated CIPA patients who had consanguineous parents. We detected a deletion-, splice- and missense-muta-tion in the tyrosine kinase domain in these three patients. Our findings strongly suggest that defects in TRKA cause CIPA and that the NGF−TRKA system has a crucial role in the development and function of the nociceptive reception as well as establishment of thermoregulation via sweating in humans. These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect(s) of the nervous system. | |||||
| 書誌情報 |
Nature Genetics 巻 13, 号 4, p. 485-488, 発行年 1996-08 |
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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 | AA1084279X | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | 10.1038/ng0896-485 | |||||
| 権利 | ||||||
| 権利情報 | c1996 Nature Publishing Group | |||||
| 情報源(ISSN) | ||||||
| 関連名称 | 10614036 | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 形態 | ||||||
| 値 | 858789 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 | Nature Publishing Group | |||||
| 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 | |||||
| 著作の一部 | ||||||
| 関連名称 | http://www.nature.com/ng/index.html | |||||
| コメント | ||||||
| 値 | "Nature Genetics, August 1996, Volume 13 No 4, Letters" | |||||
