Von Hippel Lindau Syndrome
Mostrando 1-12 de 23 artigos, teses e dissertações.
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1. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations
Clinics. Publicado em: 2012
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2. Avaliação das alterações do gene VHL nos carcinomas renais de células claras associados à síndrome de von Hippel-Lindau
A Síndrome de von Hippel-Lindau é uma doença hereditária multissistêmica, causada por mutações germinativas no gene VHL que predispõe o portador a manifestações benignas e malignas em diversos órgãos. Entre esses eventos, o carcinoma de células claras renais (CRC) é o de pior prognóstico, com uma penetração média de 25% e sendo a principal
Publicado em: 2010
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3. Preimplantation genetic diagnosis of Von Hippel-Lindau disease cancer syndrome by combined mutation and segregation analysis
Von Hippel-Lindau (VHL) disease is an autosomal dominant cancer syndrome, associated with the development of tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The VHL disease tumor suppressor gene (VHL) maps to 3p25-p26 and mutations ranging from a single base change to large deletions have been detected in pa
Genetics and Molecular Biology. Publicado em: 2007-03
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4. Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.
A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operate
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5. Serum erythropoietin levels in von Hippel-Lindau syndrome.
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6. Histogenesis of haemangioblastomas: an immunocytochemical and ultrastructural study in a case of von Hippel-Lindau syndrome.
The cerebellar, retinal, and one of the spinal haemangioblastomas in a case of von Hippel-Lindau syndrome were studied by immunocytochemistry and electron microscopy. The tumours were positive for neurone specific enolase and variably positive for somatostatin, pancreatic polypeptide, and bombesin. Electron microscopy of the cerebellar tumour showed secretor
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7. Central nervous system lesions in von Hippel-Lindau syndrome.
CNS manifestations were studied in 97 gene carriers of von Hippel-Lindau syndrome (HLS). Haemangioblastomas of the CNS were found in 43 patients (44%), 23 females and 20 males. The mean age at diagnosis was 39 years (12-73 years). A total of 93 haemangioblastomas were detected of which 74% were intracranial and 26% were located in the spinal cord; 75% were p
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8. Transcription-Dependent Nuclear-Cytoplasmic Trafficking Is Required for the Function of the von Hippel-Lindau Tumor Suppressor Protein
Mutation of the von Hippel-Lindau tumor suppressor gene (vhl) causes the von Hippel-Lindau cancer syndrome as well as sporadic renal clear cell carcinoma. To pursue our study of the intracellular localization of VHL protein in relation to its function, we fused VHL to the green fluorescent protein (GFP) to produce the VHL-GFP fusion protein. Like VHL, VHL-GF
American Society for Microbiology.
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9. Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterised by the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. The gene for VHL disease has been mapped to chromosome 3p25-p26 and flanking markers identified. We have investigated the usefulness of currently availab
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10. Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products
Inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene causes the familial cancer syndrome, VHL disease, characterized by a predisposition to renal cell carcinoma and other tumor types. Loss of VHL gene function also is found in a majority of sporadic renal carcinomas. A preponderance of the tumor-disposing inherited missense mutations detected in
The National Academy of Sciences.
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11. The von Hippel–Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal
The inactivation of the von Hippel–Lindau (VHL) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas (RCC) and brain hemangioblastomas. VHL-negative 786–0 RCC cells are tumorigenic in nude mice which is suppressed by the reintroduction of VHL. Remarkably, this occurs
The National Academy of Sciences.
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12. Vascular tumors in livers with targeted inactivation of the von Hippel–Lindau tumor suppressor
von Hippel–Lindau (VHL) disease is a pleomorphic familial tumor syndrome that is characterized by the development of highly vascularized tumors. Homozygous disruption of the VHL gene in mice results in embryonic lethality. To investigate VHL function in the adult we have generated a conditional VHL null allele (2-lox allele) and null allele (1-lox al
The National Academy of Sciences.