von Hippel-Lindau
Von Hippel-Lindau Disease
... the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and ...
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The von Hippel–Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice
... Mutation of the von Hippel–Lindau (VHL) tumor suppressor protein at codon 200 (R200W) is associated with a disease known as Chuvash polycythemia. In addition to polycythemia, Chuvash patients have ...
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Type 2B von Hippel-Lindau disease : molecular biology, tumor growth, and development
... Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer susceptibility syndrome resulting from germline mutation of the VHL tumor suppressor gene which affects 1 in 36,000 live ...
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Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease
... Background: Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of ...
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Superior mediastinal paraganglioma associated with von Hippel Lindau syndrome: report of a case
... The patient’s postoperative course was uneventful, without Horner’s syndrome. Six months after the first operation, CT for postoperative follow-up revealed a right adrenal gland and pancreatic tumor and para-aortic lymph ...
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Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
... the von Hippel‑Lindau disease (VHL) gene in families from North America, Europe, and ...in von Hippel‑Lindau disease and suggests molecular mechanisms of ...
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<p>Von Hippel-Lindau Disease: Current Challenges and Future Prospects</p>
... in von Hippel-Lindau (VHL) ...of von Hippel-Lindau disease is the loss of function of the VHL protein and subsequent accumulation of hypoxia-inducible factor with downstream ...
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Von Hippel-Lindau mutations disrupt vascular patterning and maturation via Notch
... Von Hippel-Lindau (VHL) syndrome is an autosomal dominant inherited predisposition to the onset of cancer in neurological tissues, as well as in the kidney, adrenal gland, pancreas, and liver ...
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Case Report Metastasis of renal cell carcinoma to hemangioblastoma of the spinal cord in von Hippel-Lindau disease: report of a case and review of literature
... Von Hippel-Lindau (VHL) disease is an autoso- mal dominant inherited disorder, characterized by multiple hemangioblastomas (HAB) of the central nervous system and cysts or tumors of various organs ...
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Case Report Clear cell chondrosarcoma of the talus in Von Hippel-Lindau disease: a rare tumor in an unusual location and uncommon co-presentation
... Abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome. Clear cell chon- drosarcoma (CCCS) is a rare variant of chondrosarcoma. Here, we report a case of CCCS in ...
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A patient with bilateral pheochromocytoma as part of a Von Hippel Lindau (VHL) syndrome type 2C
... 23. Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Cros- sey PA, Webster AR, Affara NA, Ferguson-Smith MA, Brauch H, Gla- vac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger ...
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Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas
... Central nervous system hemangioblastomas are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third occur in the course of the hereditary disorder – von ...
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Von Hippel Lindau protein in the RPE is essential for normal ocular growth and vascular development
... the von Hippel-Lindau tumour suppressor protein (Pvhl) and hypoxia-inducible factors ...the von Hippel-Lindau E3 ubiquitin ligase, which consequently leads to proteolytic ...
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Spinal Cord Hemangioblastomas in von Hippel Lindau Disease: Management of Asymptomatic and Symptomatic Tumors
... Purpose: Standard treatment of asymptomatic spinal cord hemangioblastoma in von Hippel-Lindau (VHL) disease has yet to be established. The purpose of this study was to propose guidelines for the ...
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Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development
... the von Hippel-Lindau tumour suppressor protein (Pvhl) and hypoxia-inducible factors ...the von Hippel-Lindau E3 ubiquitin ligase, which consequently leads to proteolytic ...
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From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis
... VHL disease is a hereditary cancer syndrome character- ized by the incidence of multiple vascular tumours. The syndrome is caused by inactivation of the von Hippel– Lindau protein (pVHL) [6]. Loss of ...
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Germline Mutational Study of Von Hippel- Lindau Disease in Japan
... 80. Zbar B, Kishida T, Chen f, Schmidt l, Maher eR, Richards fM, Crossey pA, Webster AR, Affara nA, ferguson-Smith MA, Brauch H, Glavac d, neumann Hp, Tisherman S, Mulvihill JJ, Gross dJ, Shuin T, Whaley J, Seizinger B, ...
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Evaluation of the safety and effectiveness of oral propranolol in patients with von Hippel-Lindau disease and retinal hemangioblastomas: phase III clinical trial
... Background von Hippel-Lindau disease (VHL) is a multisystem cancer syndrome caused by mutations in the VHL gene. Retinal hemangioblastoma is one of the most common tumours, and when it appears near ...
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Pancreatic cyst development: insights from von Hippel-Lindau disease
... general. Von Hippel-Lindau (VHL) disease is an atypical ciliopathy and inherited tumor syndrome, caused by a mutation in the VHL tumor suppressor gene encoding the VHL protein ...
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The Natural History of Cerebellar Hemangioblastomas in von Hippel Lindau Disease
... Hemangioblastoma (HB) is a vascular tumor of the CNS. It occurs most often in the cerebellum, where it is the most common primary neoplasm in adults. HBs are less commonly seen in the spinal cord, and they rarely occur ...
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