Christie A Chmielecki

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Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene cause tissue-specific tumors, with a striking genotype-phenotype correlation. Loss of VHL expression predisposes to hemangioblastoma and clear cell renal cell carcinoma, whereas specific point mutations predispose to pheochromocytoma, polycythemia, or combinations of hemangioblastoma, renal cell(More)
The survey presents the results of clinical observation of the visual system and the evaluation of the level of histamine in the retina and choroid (together) and in the lens in poststreptozotocinic diabetes in Wistar tribe rats. The eye fundus exhibited vascular changes of various intensity, also opacities of the lenses were detected. In the chorio-retinal(More)
Gastrin influences polyamine synthesis in the enterocytes, which can lead to increased DAO activity. In diabetics with autonomic neuropathy (AN), a higher than normal gastrin concentration was found. However, in diabetics with enteropathy, a low level of plasma DAO activity was discovered. The purpose of this study was to investigate gastrin secretion and(More)
9553 Background: The Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disorder characterized by mutations in a classical tumor suppressor gene (VHL). Clear cell renal cell carcinoma and hemangioblastoma without pheochromocytoma characterize VHL type 1 disease. VHL type 2 disease is characterized by the presence of pheochromocytoma and is further(More)
Diamine oxidase (DAO) is an enzyme found almost exclusively in the enterocyte of the villous tips. In the basal state plasma DAO activity is low but increases significantly after i.v. injection of heparin. It is well recognised that postheparin plasma activity of DAO reflects clearly the integrity of the small bowel mucosa. The aim of this study was to(More)
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