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Molecular Basis of Congenital Insensitivity to Pain With Anhidrosis (CIPA) : Mutations and Polymorphisms in TRKA (NTRK1) Gene Encoding the Receptor Tyrosine Kinase for Nerve Growth Factor
http://hdl.handle.net/2298/32921
http://hdl.handle.net/2298/32921e1a02f9e-6cca-4d20-a0ee-6ef7eb3b4f14
| 名前 / ファイル | ライセンス | アクション |
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HumMutat_18_6_462-471.pdf (114.8 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2015-09-02 | |||||
| タイトル | ||||||
| タイトル | Molecular Basis of Congenital Insensitivity to Pain With Anhidrosis (CIPA) : Mutations and Polymorphisms in TRKA (NTRK1) Gene Encoding the Receptor Tyrosine Kinase for Nerve Growth Factor | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | congenital insensitivity to pain with anhidrosis, CIPA, hereditary sensory and autonomic neuropathy type IV, HSAN-IV, NTRK1, TRKA, nerve growth factor, NGF, receptor tyrosine kinase, RTK, uniparental disomy, UPD | |||||
| 資源タイプ | ||||||
| 資源タイプ | journal article | |||||
| 著者 |
Indo, Yasuhiro
× Indo, Yasuhiro |
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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 | Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The TRKA (NTRK1) gene located on chromosome 1 (1q21-q22), consists of 17 exons and spans at least 23 kb. TRKA encodes the receptor tyrosine kinase (RTK) for nerve growth factor (NGF) and is the gene responsible for CIPA. Defects in NGF signal transduction at the TRKA receptor lead to failure to support survival of sympathetic ganglion neurons and nociceptive sensory neurons derived from the neural crest. Thirty-seven different TRKA mutations, identified in patients in various countries, including nine frameshift, seven nonsense, seven splice, and 14 missense mutations, are distributed in an extracellular domain involved in NGF binding, as well as in the intracellular signal-transduction domain. Extensive analysis of CIPA mutations and associated intragenic polymorphisms should facilitate detection of CIPA mutations and aid in the diagnosis and genetic counseling of this painless but severe genetic disorder with devastating complications. In addition, naturally occurring TRKA missense mutations with loss of function provide considerable insight into the structure-function relationship in the RTK family. Further, molecular pathology of CIPA would provide unique opportunities to explore critical roles of the autonomic sympathetic nervous system as well as peripheral sensory nervous system that transmit noxious stimuli in humans. Hum Mutat 18:462-471, 2001. | |||||
| 書誌情報 |
Human Mutation 巻 18, 号 6, p. 462-471, 発行年 2001-12 |
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| ISSN | ||||||
| 収録物識別子 | 10597794 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | 10.1002/humu.1224 | |||||
| 権利 | ||||||
| 権利情報 | ©Wiley-Liss, Inc. | |||||
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| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
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| 114792 bytes | ||||||
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| 出版タイプ | AM | |||||
| 日本十進分類法 | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 467 | |||||
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| 出版者 | Wiley-Liss | |||||
| 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 | ||||||
| 雑誌掲載論文 | ||||||
| 資源タイプ・NII | ||||||
| Journal Article | ||||||
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| URL | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | http://onlinelibrary.wiley.com/doi/10.1224/humu.1192/abstract | |||||
