نتایج جستجو برای: von hippel lindau syndrome
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Major research efforts have been devoted to the discovery and development of new chemical entities that could inhibit the protein-protein interaction between HIF-1α and the von Hippel-Lindau protein (pVHL), which serves as the substrate recognition subunit of an E3 ligase and is regarded as a crucial drug target in cancer, chronic anemia, and ischemia. Currently there is only one class of compo...
Von Hippel-Lindau syndrome is a genetic disorder, which predisposes the individual to the formation of highly vascularized tumors that demonstrate age dependent penetrance. The disease is caused by mutations in Von Hippel-Lindau tumor suppressor gene present in short arm of chromosome 3. The disease is characterized by development of CNS hemangioblastomas, phaeochromocytoma, renal cyst, clear c...
It is a report of disseminated bacillary angiomatosis (BA) in a 23-year-old female patient, who is HIV-positive and with fever, weight loss, hepatomegaly, ascites, and papular-nodular skin lesions. The clinical and diagnostic aspects involved in the case were discussed. Bacillary angiomatosis must always be considered in the diagnosis of febrile cutaneous manifestations in AIDS.
von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germ line mutation of the von Hippel-Lindau tumor suppressor gene (VHL). Tumors observed in this disorder include retinal and central nervous system hemangioblastomas, clear cell renal carcinomas and pheochromocytomas. The VHL gene product, pVHL, is a component of a ubiquitin ligase which targets the transcription factor ...
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