Search for dissertations about: "CYP21"
Showing result 1 - 5 of 7 swedish dissertations containing the word CYP21.
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1. Congenital adrenal hyperplasia, CYP21 deficiency, screening and clinical aspects
Abstract : Congenital adrenal hyperplasia (CAH) is a group of recessively inherited disorders. More than 90% of all cases of CAB are caused by 21-hydroxylase deficiency. This enzyme deficiency results in reduced ability to synthesize cortisol and aldosterone and at the same time increased secretion of androgens. READ MORE
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2. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia
Abstract : Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. A defect in the gene encoding steroid 21-hydroxylase, CYP21, results in impaired synthesis of cortisol and in most cases also aldosterone. READ MORE
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3. Mutational effects on protein structure and function
Abstract : In this thesis several important proteins are investigated from a structural perspective. Some of the proteins are disease related while other have important but not completely characterised functions. READ MORE
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4. Interaction of Xenobiotics with the Glucocorticoid Hormone System in vitro
Abstract : Persistent environmental pollutants were examined for their interaction with the glucocorticoid hormone system. The focus was placed on interference with the glucocorticoid synthesis and the glucocorticoid-signalling pathway in various in vitro test systems. READ MORE
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5. Genetic characterization of adrenocortical tumors
Abstract : Adrenocortical cancer is a rare tumor form. However, adrenal tumors are today often found incidentally when using imaging techniques on the upper abdomen and should then be investigated. With the advance in molecular understanding of cancer new approaches to manage the disease may become available. READ MORE