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A mutation in the first 53 codons of the open reading frame has no effect on the structure of the smaller protein. As expected, the vast majority of VHL mutations are downstream of the second initiation site and alter both proteins. However, several candidate mutations have been found in the...
The von Hippel-Lindau (VHL) is deficient in ∼70% of clear-cell renal cell carcinomas (ccRCC), which contributes to the carcinogenesis and drug resistance of ccRCC. Here we show that VHL-deficient ccRCC cells present enhanced cytotoxicity of anthracycl
c.194C > G (p.Ser65Trp). An arrow indicates the proband. Squares signify men, and circles women. The filled symbols represent affected individuals. A diagonal line across a symbol indicates a deceased person. CNSH, central nervous...
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome, where the affected kindreds manifest multiple tumors, mainly of the central nervous system, renal and pancreatic tissue (Maher and Kaelin, 1997). The gene responsible for the disorder is a tumor-suppressor gene (Latif et al., ...
(hif), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. rna polymerase ii subunit polr2g/rpb7 is also reported to be a target of this protein. alternatively spliced transcript variants encoding distinct isoforms have been observed. 仅用于...
U87 cells were co-transfected with plasmids expressing HA–HIF2α and GFP–DYRK1B or GFP-vector. Cells were treated with 50 μg ml−1of CHX for the indicated times and analysed by western blot.c, Quantification of HIF2α protein from the experiment in panelbas the log2of the perc...
in VHL patients are hemangioblastomas of the retina or optic nerve head. A hemangioblastoma is any case of angiomatosis, a proliferation of vascular endothelium, within the central nervous system. Retinal capillary hemangioblastomas are found in up to 70 % of VHL patients by 60 years of...
Further, we have provided rapid VHL screening for the families in central Europe, which has resulted in improved diagnosis and clinical management. This is a preview of subscription content, log in via an institution to check access. Similar content being viewed by others Von Hippel–Lindau (...
PubMed Central PubMed CentralGoogle Scholar De S, Holvey-Bates EG, Mahen K, Willard B, Stark GR. The ubiquitin E3 ligase FBXO22 degrades PD-L1 and sensitizes cancer cells to DNA damage. Proc Natl Acad Sci USA. 2021;118:e2112674118. ...