Sökning: "rare diseases"

Visar resultat 6 - 10 av 211 avhandlingar innehållade orden rare diseases.

  1. 6. Protein Misfolding in Human Diseases

    Författare :Karin Almstedt; Per Hammarström; Daniel Otzen; Linköpings universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Misfolding; carbonic anhydrase; prion protein; protein stability; Biochemistry; Biokemi;

    Sammanfattning : There are several diseases well known that are due to aberrant protein folding. These types of diseases can be divided into three main categories:Loss-of-function diseasesGain-of-toxic-function diseasesInfectious misfolding diseases Most loss-of-function diseases are caused by aberrant folding of important proteins. LÄS MER

  3. 7. Mothers and fathers of children with developmental disabilities: Co-parenting, well-being and empowerment

    Författare :David Norlin; Göteborgs universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; parental well-being; child disability; intellectual disability; developmental disability; couple relations; harsh parenting; rare diseases;

    Sammanfattning : Parents of children with developmental disabilities (DD) generally experience more stress and poorer well-being than other parents. However, there is considerable individual variation in parental adaptation. The general aim of this thesis was to further the understanding of the adaptation of Swedish parents of children with DD. LÄS MER

  4. 8. The effect of common and rare variants on inflammatory traits and diseases

    Författare :Julia Höglund; Åsa Johansson; Matthew Robinson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; inflammation; biomarkers; WES; WGS; NSPHS; UK Biobank; association study;

    Sammanfattning : Genome wide association studies (GWAS) have identified thousands of loci associated to an immense number of traits and diseases. Most associations have been to common variants, but rare variant associations are progressively being reported. LÄS MER

  5. 9. Model diseases for studies of autoimmunity

    Författare :Frida Dalin; Mohammad Alimohammadi; Olle Kämpe; Sophie Bensing; Lucia Mincheva-Nilsson; Uppsala universitet; []
    Nyckelord :;

    Sammanfattning : The events triggering autoimmune diseases are to large extent unknown and model diseases are an important tool in studies aiming to elucidate molecular mechanisms in autoimmunity. Autoimmune Addison’s disease (AAD) is a rare disease characterized by autoimmune destruction of adrenal glands and most patients with AAD have autoantibodies against the enzyme 21‑hydroxylase in the adrenal cortex. LÄS MER

  7. 10. Studies of Autoantibodies in Systemic and Organ-Specific Autoimmune Disease

    Författare :Filip Sköldberg; Olle Kämpe; Fredrik Rorsman; Lars Rönnblom; Eva Landgren; Marie Wahren-Herlenius; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine; autoantibodies; autoimmune polyendocrine syndrome type 1; cysteine sulfinic acid decarboxylase; histidine decarboxylase; systemic lupus erythematosus; ahnak; CLLD4; Medicin; Dermatology and venerology; clinical genetics; internal medicine; Dermatologi och venerologi; klinisk genetik; invärtesmedicin; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease, whereas autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal disorder characterized by combinations of organ-specific autoimmune manifestations including hypoparathyroidism and intestinal dysfunction, and may serve as a model for organ-specific autoimmunity. Autoantibodies directed against proteins expressed in the affected tissues are found in both diseases. LÄS MER