Systemic VHL gene functions and the VHL disease

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Title:	Systemic VHL gene functions and the VHL disease
Authors:	徐沺;Bader, Hannah L.;Hsu, Tien
Contributors:	生醫理工學院生醫科學與工程學系
Keywords:	Animals;carcinoma;cytokines;endothelial cells;Erythropoietin;gene expression regulation;genetic disorders;Haploid insufficiency;Hemangioblastoma;Hematopoiesis;Hematopoiesis - genetics;heterozygosity;human diseases;Humans;hypoxia;Inflammation;mutants;mutation;neoplasm cells;Neoplasms - genetics;Neoplasms - metabolism;Neoplasms - pathology;Neovascularization, Pathologic - genetics;phenotype;polycythemia;Polycythemia - genetics;stem cells;tumor suppressor genes;ubiquitin-protein ligase;von Hippel-Lindau Disease - genetics;von Hippel-Lindau Disease - metabolism;von Hippel-Lindau Disease - pathology;von Hippel-Lindau Disease - physiopathology;Von Hippel-Lindau Tumor Suppressor Protein - genetics;Von Hippel-Lindau Tumor Suppressor Protein - metabolism
Date:	2012-06-04
Issue Date:	2026-04-23 11:22:29 (UTC+8)
Publisher:	Wiley-Blackwell;England: Elsevier B.V
Abstract:	摘要： The von Hippel‐Lindau tumor suppressor gene (VHL) is best known as an E3 ubiquitin ligase that negatively regulates the hypoxia inducible factor (HIF). VHL mutations are the genetic defects underlying several human diseases including polycythemia, familial VHL tumor syndrome and sporadic renal cell carcinoma. VHL mutations can lead to cell‐autonomous phenotypes in the tumor cells. However, non‐tumor cell‐autonomous functions of VHL have also been noted. VHL tumor‐derived cytokines can promote inflammation and induce mobilization of endothelial progenitor cells. Up‐regulation of HIF caused by VHL loss‐of‐function mutants, including heterozygotes, has been shown to increase the activities of hematopoietic stem cells, endothelial cells and myeloid cells. As such, systemic functions of VHL likely play important roles in the development of VHL disease. 其他題名： FEBS Lett 出版者： England: Elsevier B.V 出版日期： 2012-06-04 出處： FEBS Letters, 2012-06, Vol.586 (11), p.1562-1569 資源來源： Elsevier ScienceDirect Journals Complete - Autoholdings 版權： 2012 Federation of European Biochemical Societies 版權： FEBS Letters 586 (2012) 1873-3468 © 2015 Federation of European Biochemical Societies 版權： Copyright © 2012 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. 版權： 2012 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. 2012 識別號： ISSN: 0014-5793 識別號： ISSN: 1873-3468 識別號： EISSN: 1873-3468 識別號： DOI: 10.1016/j.febslet.2012.04.032 識別號： PMID: 22673568
Appears in Collections:	[Department of Biomedical Sciences and Engineering ] journal & Dissertation

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