Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactiva...

Endolymphatic sac tumor (ELST) is a papillary epithelial neoplasm arising within the endolymphatic sac/duct that shows a high association with von Hippel-Lindau disease (VHL). There is usually a VHL tumor suppressor gene germline mutation with an autosomal dominant inheritance pattern. Approximately 1 in 35,000 to 40,000 people have VHL, of which approximately 10 to 15% have endolymphatic sac t...

Ten members of a large family who showed manifestations of either von Hippel-Lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestat...

Five years after the identification of the von Hippel-Lindau (VHL) gene, physicians, scientists and concerned VHL family members met to review the current state of knowledge on the diagnosis and treatment of VHL and to summarize the latest information on the biochemistry of the VHL protein (pVHL). The NIH and University of Pennsylvania groups reported the detection of germ-line mutations in 100...

von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that is associated with germline mutations of VHL tumor suppressor gene, which is located at short arm of chromosome 3. This condition predisposes to the development of various benign and malignant tumors involving multiple organs; the common neoplasms include central nervous system hemangioblastomas (mostly cerebellar and spinal...

Coronavirus disease 2019 (COVID-19) is a rapidly spreading infective caused by the severe acute respiratory syndrome coronavirus 2 virus (SARS-CoV-2). The management of this remains challenge particularly in certain subgroups patients such hemodialysis who have higher exposure rates due to nature their in-hospital care, and mortality burden comorbidities. We report case 52-year-old patient with...

Biol. 22(15):5319-5336. Mol. Cell. Hippel-Lindau Tumor Suppressor Protein. Nuclear-Cytoplasmic Trafficking of the von Degradation of Hypoxia-Inducible Factor Requires Oxygen-Dependent Ubiquitination and 2002. Isabelle Groulx and Stephen Lee Suppressor Protein the von Hippel-Lindau Tumor Nuclear-Cytoplasmic Trafficking of Hypoxia-Inducible Factor Requires and Degradation of Oxygen-Dependent Ubiq...

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