Sökning: "CYP21"

Visar resultat 1 - 5 av 7 avhandlingar innehållade ordet CYP21.

  1. 1. Congenital adrenal hyperplasia, CYP21 deficiency, screening and clinical aspects

    Författare :Anna Nordenström; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; 21 -hydroxylase deficiency; CYP21; neonatal screening; 17-OHP; sex-typed behavior; toy play.;

    Sammanfattning : 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. LÄS MER

  3. 2. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia

    Författare :Tiina Robins; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; CAH; CYP21; enzyme activity; modeling; genotype phenotype relationships; structure function relationships.;

    Sammanfattning : 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. LÄS MER

  4. 3. Mutational effects on protein structure and function

    Författare :Jonas Carlsson; Persson Bengt; Uwe Sauer; Linköpings universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Mutation; prediction; phenotypes; homology model; virtual screening; molecular dynamics; amyloid; cancer; membrane protein; Bioinformatics; Bioinformatik;

    Sammanfattning : 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. LÄS MER

  5. 4. Interaction of Xenobiotics with the Glucocorticoid Hormone System in vitro

    Författare :Maria Johansson; Helen Håkansson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biology; DDT; PCB; tolylfluanid; adrenal; CYP11B1; glucocorticoid receptor; endocrine disrupter; Biologi; Biology; Biologi; Ecotoxicology; ekotoxikologi;

    Sammanfattning : 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. LÄS MER

  7. 5. Molecular analysis of mutated P450c21 in congenital adrenal hyperplasia

    Författare :Svetlana Lajic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; 21-hydroxylase deficiency; P450c21; itl vitro expression; COS- I; functional analysis; prenatal treatment;

    Sammanfattning : Defects in cytochrome P450c21 (21-hydroxylase, 210H) are the most common causes of congenital adrenal hyperplasia (CAH). This recessively inherited disorder demonstrates a wide spectrum of severity as a consequence of impaired production of cortisol and aldosterone and excessive secretion of adrenal androgens. LÄS MER