Sökning: "steroid-21-hydroxylase"

Hittade 3 avhandlingar innehållade ordet steroid-21-hydroxylase.

  1. 1. Humoral immunity to recombinant human autoantigens in organ-specific autoimmune disease

    Författare :Alberto Falorni; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :IDDM; Addison s disease; autoantibodies; recombinant autoantigens; radioimmunoassay; disease prediction; glutamic-acid decarboxylase; steroid-21-hydroxylase;

    Sammanfattning : Insulin-dependent diabetes mellitus (IDDM) and idiopathic Addison's disease are organ-specific autoimmune diseases characterized by the presence of circulating autoantibodies. The role of autoantibodies in the pathogenesis of these diseases is not fully understood, but their presence can be used as a marker for diagnosis and prediction. 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