Von Hippel-Lindau factor
Von Hippel-Lindau Disease
... angiogenic factor or downregulation of an inhibitor of ...growth factor (VEGF), plasminogen activator inhibitor 1 (PAI-1) and erythropoietin ...transcription factor, hypoxia-inducible factor ...
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Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease
... growth factor; HIF: Hypoxia inducible factor; HRE: Hypoxia responsive element; IH: Infantile hemangioma; MMP: Matrix metalloproteinases; PBLs: Peripheral blood leukocytes; pVHL: Von Hippel ...
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Pancreatic cyst development: insights from von Hippel-Lindau disease
... transcription factor pancreatic and duodenal homeobox 1 (Pdx1) give rise to pancreatic tissue, consisting of exocrine (acinar and duct) and endocrine (islet) cells ...
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The Psychosocial Research of the Members in a Large Von Hippel Lindau Family in China
... the difference in prevalence rates might be that the studied family was from an economic underdeveloped area in a developing country, with higher prevalence of mental health problems compared with developed countries. ...
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CEREBELLAR HEMANGIOBLASTOMA IN A PATIENT WITH VON HIPPEL-LINDAU DISEASE : A CASE REPORT
... ventriculoperitoneal shunt was performed as a second procedure. She was than referred to the nephrologist for the management of the left renal tumour. Histopathological examination (HPE) (figure 5) showed anastomosing ...
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Review Article Clear cell papillary renal cell carcinoma: a review
... [19] Rohan SM, Xiao Y, Liang Y, Dudas ME, Al-Ah- madie HA, Fine SW, Gopalan A, Reuter VE, Rosenblum MK, Russo P, Tickoo SK. Clear-cell papillary renal cell carcinoma: molecular and immunohistochemical analysis with ...
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Type 2B von Hippel-Lindau disease : molecular biology, tumor growth, and development
... immunostaining. VHL inactivation by mutation, deletion, or promoter methylation was confirmed in 49/50 H1H2 and H2 ccRCC tumors. Consistent with earlier studies suggesting that HIF-2α enhances and HIF-1α tends to oppose ...
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Superior mediastinal paraganglioma associated with von Hippel Lindau syndrome: report of a case
... The treatment of paragangliomas involves complete tumor removal. In one report, the complete tumor re- moval rate was 76.9%, and only 20.0% of patients who were thought to have undergone complete tumor re- section ...
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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 ...
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Von Hippel-Lindau mutations disrupt vascular patterning and maturation via Notch
... key factor in VHL syndrome manifestations and, most notably, in ccRCC onset and ...important factor in the aggressive growth and metastatic potential of ccRCC tumors ...
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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
... VHL disease is an autosomal dominant multi- system syndrome associated with germline mutation of the VHL tumor suppressor gene at chromosome 3p25 [4]. The loss of functional VHL protein contributes to tumorigenesis in ...
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A patient with bilateral pheochromocytoma as part of a Von Hippel Lindau (VHL) syndrome type 2C
... The normal VHL gene produces two proteins with similar biochemical and functional behaviour, both are addressed as pVHL. Depending on the specific tissue, they are functioning as co-activator or co-repressor. The VHL ...
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Von Hippel Lindau protein in the RPE is essential for normal ocular growth and vascular development
... growth factor (Vegf), and with the pathogenesis of age- related macular degeneration, which is the major cause of blindness in elderly people in industrialised countries (Arjamaa et ...
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Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development
... growth factor (Vegf), and with the pathogenesis of age- related macular degeneration, which is the major cause of blindness in elderly people in industrialised countries (Arjamaa et ...
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von Hippel–Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia inducible factor 2α signaling and splenic erythropoiesis
... polycythemia, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF. Previous studies have implicated hypoxia- inducible factor–1a (HIF-1a) signaling in ...
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Hemangioblastoma in the Setting of Von Hippel Lindau Disease: A Case Report
... The affected gene in VHL produces a tumor suppressor product known as pVHL. A germ line mutation at chromosome 3p25 results in cells lacking pVHL. These abnormal cells are associated with the overproduction of angiogenic ...
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PubMedCentral-PMC5138100.pdf
... the von Hippel Lindau protein (cullin2) and RBX1 (RING- box1), which promotes the polyubiquitination of HIF-1α followed by its proteasomal ...
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Germline Mutational Study of Von Hippel- Lindau Disease in Japan
... growth factor A (VeGfA), angiopoietin-2 (AGpT2), or platelet derived growth factor β (pdGfB), which are known to be important for the proliferation of endothelial cells and pericytes, respectively, and for ...
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Atlas on substrate recognition subunits of CRL2 E3 ligases
... of von Hippel-Lindau tumor suppressor (VHL), the Cullin2-type ubiquitin ligases gain focusing in the research of many diseases, especially in ...determining factor of the enzyme ...
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The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review
... growth factor receptor (HER1); EP300: E1A binding protein P300; ERBB2: erb-B2 receptor tyrosine kinase 2 (HER2); ESR: estrogen receptor 1; FAM5C: BMP/retinoic acid inducible neural specific 3 (BRINP3); FDA: US ...
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