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von hippel lindau

VHL,von hippel lindau

von hippel lindau - VHL
Publications: 1,389| Citation Count: 26,606
Cumulative Annual
    • The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, brain stem and retina...

    Christopher A. Friedrich. Genotype-phenotype correlation in von Hippel-Lindau syndrome

    • Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis...

    Frederik Heset al. Genotype-phenotype correlations in families with deletions in the von ...

    • von Hippel-Lindau (VHL) disease is a multisystem inherited cancer syndrome characterized by the development of highly vascular tumors including hemangioblastomas of the retina and central nervous system, pheochromocytomas, and clear cell renal carcinoma, which result from somatic inactivation of the wild-type VHL allele in cells harboring a germ-line VHL mutation...

    Wenbin Maet al. Hepatic Vascular Tumors, Angiectasis in Multiple Organs, and Impaired ...

    • von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer syndrome predisposing to a variety of tumor types that include retinal hemangioblastomas, hemangioblastomas of the central nervous system, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas, endolymphatic sac tumors, and epididymal cystadenomas (W...

    Svetlana D. Packet al. Constitutional von Hippel-Lindau (VHL) Gene Deletions Detected in VHL ...

    • von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by germline mutations in the VHL tumor suppressor gene. Mutations in the VHL gene result in the constitutive stabilization of transcription factors hypoxia-inducible factors 1α and 2α, which bind to specific enhancer elements in the vascular endothelial growth factor (VEGF) gene and stimulate angiogenesis. This increase in angiogenesis under normoxic conditions in key target organs such as the brain, kidney, and eye leads to high morbidity and reduced life expectancy...

    ADRIAN L. HARRIS. von Hippel-Lindau Syndrome: Target for Anti-Vascular Endothelial Growt...

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