von Hippel-Lindau 综合征 - 百度百科
von Hippel-Lindau综合征简称VHL综合征，又称VHL病，希佩尔-林道综合征、林岛综合征，是VHL抑癌基因突变所致常染色体显性遗传病（OMIM 193300）。 VHL病患者表现为多器官肿瘤综合征，包括中枢神经系统血管母细胞瘤、视网膜血管母细胞瘤、肾细胞癌或肾囊肿、胰腺肿瘤或胰腺囊肿、嗜铬细胞瘤、内耳淋巴囊肿瘤和生殖系统囊肿等病变。 文献报道VHL综合征的发病率为1/91000～1/36000，患者60岁时外显率可达90%。 VHL病、VHL综合征、希佩尔-林道综合征 …
中国von Hippel－Lindau病诊治专家共识 - 中华医学杂志
Von Hippel－Lindau病简称VHL病，又称希佩尔－林道综合征、林岛综合征，是 VHL 抑癌基因突变引起的一种常染色体显性遗传病 (OMIM 193300)。 患者表现为多器官肿瘤综合征，包括中枢神经系统血管母细胞瘤、视网膜血管母细胞瘤、肾癌或肾囊肿、胰腺肿瘤或囊肿、肾上腺嗜铬细胞瘤、内耳淋巴囊肿瘤和生殖系统囊肿等病变 [1, 2, 3, 4]。 据国外报道，VHL病的发病率为1/ (91 000～36 000) [2, 5, 6]，我国尚无流行病学数据。 我国患者外显率高，国外报道60岁外显 …
Complex cellular functions of the von Hippel–Lindau tumor
2011年9月26日 · Canonical VHL functions denote the degradation of HIF-α in normoxia through the E3 ubiquitin ligase activity. The E3 ligase complex contains VHL, Rbx1, cullin-2 (Cul-2) and elongin B and C (B, C).
新药速览 | 美国 FDA 批准 Welireg治疗 罕见病VHL综合征 - 知乎
VHL的英文全称是Von Hippel-Lindau disease，中文译名为 希佩尔·林道综合征，本文中简称VHL综合征。 它是一种遗传性疾病，比较罕见，全球约有20万例患者，属于 常染色体显性遗传性疾病。 什么是常染色体显性遗传性疾病呢？ 我们先来回忆一下什么是染色体吧。 染色体存在于细胞中，由DNA和蛋白质组成。 而我们常说的遗传因子——基因，则是有功能的DNA片段。 简单来说，就是由基因组成了DNA，而DNA和蛋白质又组成了染色体。 众所周知，基因是储存着生命 …
Loss of the tumor suppressor Vhlh leads to upregulation of
2006年8月13日 · Here, we show that deletion of the Von Hippel–Lindau gene (Vhlh) from intrinsic glomerular cells of mice is sufficient to initiate a necrotizing crescentic glomerulonephritis and the clinical...
Vhlh gene deletion induces Hif-1-mediated cell death in thymocytes
In order to investigate the role of pVhl in T-cell development, we generated mice with thymocyte-specific inactivation of Vhlh resulting in constitutive transcriptional activity of Hif-1, as well as mice with thymocyte-specific repression of Hif-1 in a wild-type and Vhlh-deficient background.
The VHL Tumor Suppressor: Master Regulator of HIF - PMC
Patients with germ line mutations in the von Hippel-Lindau (VHL) tumor suppressor are affected by a rare familial tumor syndrome, which is characterized by the predisposition to develop highly vascularized tumors in multiple organs.
Systemic VHL gene functions and the VHL disease - PMC
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.
Vhlh Gene Deletion Induces Hif-1-Mediated Cell Death in …
Our data suggest that tight regulation of Hif-1 via pVhl is required for normal thymocyte development and viability and that an increase in Hif-1 transcriptional activity enhances caspase 8-mediated apoptosis in thymocytes.
Hypoxia and podocyte-specific Vhlh deletion confer risk of …
VHL and HIF1 were functional in mature murine podocytes in vivo and in vitro, with HIF1 protein stabilization and target gene transcription under both hypoxia and VHL deficiency.