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著作: [東 博之]/Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia/[The Journal of Medical Investigation : JMI]

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2017年12月4日(月) 13:54:50
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[研究部長]/[徳島大学.大学院ヘルスバイオサイエンス研究部]
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種別 必須 総説·解説
言語 必須 英語
招待 推奨
審査 推奨
カテゴリ 推奨
共著種別 推奨
学究種別 推奨
組織 推奨
著者 必須
  1. 東 博之
    役割 任意
    貢献度 任意
    学籍番号 推奨
題名 必須

(英) Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia

副題 任意
要約 任意

(英) Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and hemorrhage. The pathogenesis regarding heterogeneity of vascular malformations in patients with HHT has been obscure, although it has become possible to partially explain the pathogenesis from the identification of two distinct genes, endoglin and ALK-1. Endoglin and ALK-1 are type III and type I TGF-beta receptors, respectively, and are exclusively expressed on vascular endothelial cells. Binding of TGF-beta to the type II TGF-beta receptor on endothelial cells, which is accelerated in the presence of endoglin, phosphorylates type I TGF-beta receptors, ALK-5 and ALK-1, and phosphorylated ALK-5 and ALK-1 activate the downstream proteins Smad2/3 and Smad1/5, respectively. These activated Smad proteins dissociate from the type I TGF-beta receptor, bind to Smad4, and enter the nucleus to transmit TGF-beta signaling by regulating transcription from specific gene promoters involved in angiogenesis. Therefore, a balance between these two signaling pathways via ALK-5 and ALK-1 plays an important role in determining the properties of endothelial cells during angiogenesis. Mutations of endoglin and ALK-1 genes are genetic pathogenesis of HHT type 1 and HHT type 2, respectively. To date, at least 29 and 17 different kinds of mutations in endoglin and ALK-1, respectively, have been found, including missense, nonsense, frameshift, and deletion mutations. The precise mechanisms of vascular abnormalities elicited by these mutations observed in HHT patients are still uncertain, although elucidation of the mechanism of intracellular signal transduction and the change in targeted gene expressions using mutant recombinant endoglin or ALK-1 proteins and knockout mice will enable us to understand the genetic and molecular pathogenesis of HHT and to effectively treat patients with HHT.

キーワード 推奨
  1. (英) Activin Receptors
  2. (英) Animals
  3. (英) Antigens, CD
  4. (英) Humans
  5. (英) Mice
  6. (英) Mutation
  7. (英) Protein-Serine-Threonine Kinases
  8. (英) Receptors, Cell Surface
  9. (英) Telangiectasia, Hereditary Hemorrhagic
  10. (英) Vascular Cell Adhesion Molecule-1
発行所 推奨
誌名 必須 The Journal of Medical Investigation : JMI([徳島大学.医学部])
(pISSN: 1343-1420, eISSN: 1349-6867)
ISSN 任意 1343-1420
ISSN: 1343-1420 (pISSN: 1343-1420, eISSN: 1349-6867)
Title: The journal of medical investigation : JMI
Title(ISO): J Med Invest
Supplier: 徳島大学
Publisher: Tokushima Daigaku Igakubu
 (NLM Catalog  (Webcat Plus  (医中誌Web  (J-STAGE  (Scopus  (CrossRef (Scopus information is found. [need login])
必須 47
必須 3,4
必須 81 90
都市 任意 徳島(Tokushima/[日本国])
年月日 必須 2000年 8月 初日
URL 任意
DOI 任意
PMID 任意 11019486    (→Scopusで検索)
NAID 任意
WOS 任意
Scopus 任意
機関リポジトリ 26990
評価値 任意
被引用数 任意
指導教員 推奨
備考 任意
  1. (英) Article.PublicationTypeList.PublicationType: Journal Article

  2. (英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't

  3. (英) Article.PublicationTypeList.PublicationType: Review

  4. (英) NumberOfReferences: 52