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 …
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 …
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) …
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 …
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 …
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 …
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 …
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 …
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 …
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.