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Welcome to the VHL UK/Ireland website. Patient Support and Advice, Funding Research and Public Education for von Hippel-Lindau Syndrome (VHL) and similar genetic conditions.

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2000年5月17日 · Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas.

Visit the VHL UK/Ireland Charity Homepage. Charity Objectives: To relieve the charitable needs of persons who have von Hippel-Lindau Syndrome (VHL) and similar genetic conditions such as Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) and Birt-Hogg- Dubé Syndrome (BHD) and their families and carers in the UK and Ireland for the public ...

2005年11月16日 · Although VHL mutations are the most frequent cause of inherited erythrocytosis in our registry they are present in only ~10% of patients, while the gain-of-function of JAK2 mutation is rare, leaving ~90% of the IE cases unexplained. Further study of this group may reveal additional regulatory mechanisms involved in red cell homeostasis.

The VHL Alliance is a tax exempt 501 (c)3 corporation. Click here to access a directory of our international VHL Affiliates.

2024年8月13日 · Von Hippel-Lindau病（VHL病）是VHL基因变异导致的遗传肿瘤综合征。 VHL病相关肿瘤常为多发，其常规治疗方法为手术，但术后易复发。 VHL基因具有缺氧诱导因子（HIF）依赖及HIF非依赖的肿瘤抑制作用，关于VHL病遗传学机制的研究为该病的治疗奠定了基础。

2023年3月1日 · The VHL gene is located on the short arm of chromosome 3 (3p25) and encodes pVHL protein that orchestrates the cellular response to hypoxia [1, 4] (Fig. 1 C). Under normoxic conditions, pVHL targets hypoxia inducible factor alpha (HIF-α) for proteasomal degradation.

About VHL (von Hippel Lindau) disease. von Hippel Lindau (VHL) disease patients battle a series of malignant and benign tumours/cysts their whole lives. The gene that is involved in VHL is also involved in other more common cancers, such as kidney cancer and breast cancer. If researchers can to overcome the gene mutation for VHL, they