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Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High Affinity Receptor for Nerve Growth Factor
http://hdl.handle.net/2298/9141
http://hdl.handle.net/2298/9141a93e3401-f140-431e-bd50-5250725ab78f
| 名前 / ファイル | ライセンス | アクション |
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Reposit-AJHG-99YI.pdf (690.1 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2008-08-12 | |||||
| タイトル | ||||||
| タイトル | Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High Affinity Receptor for Nerve Growth Factor | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | 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, 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 | |||||
| 資源タイプ | ||||||
| 資源タイプ | journal article | |||||
| 著者 |
Mardy, Sek
× Mardy, Sek× 三浦, 裕一× Endo, Fumio× 松田, 一郎× Sztriha, László× Frossard, Philippe× Moosa, Allie× Ismail, Essam A.R.× Macaya, Alfons× Andria, Generoso× Toscano, Ennio× Gibson, William× Graham, Gail E.× 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) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups. | |||||
| 書誌情報 |
American Journal of Human Genetics 巻 64, 号 6, p. 1570-1579, 発行年 1999-06 |
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| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00048454 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | 10.1086/302422 | |||||
| 情報源(ISSN) | ||||||
| 関連名称 | 00029297 | |||||
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| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 形態 | ||||||
| 690090 bytes | ||||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 日本十進分類法 | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 493.937 | |||||
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| 出版者 | Elsevier | |||||
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| 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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| 著作の一部 | ||||||
| 関連名称 | http://www.ajhg.org/ | |||||
