Search for dissertations about: "AHNAK"

Found 2 swedish dissertations containing the word AHNAK.

  2. 1. Studies of Autoantibodies in Systemic and Organ-Specific Autoimmune Disease

    Author : Filip Sköldberg; Olle Kämpe; Fredrik Rorsman; Lars Rönnblom; Eva Landgren; Marie Wahren-Herlenius; Uppsala universitet; []
    Keywords : 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;

    Abstract : 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. READ MORE

  4. 2. Integrating bioinformatics and physiology to describe genetic effects in complex polygenic diseases

    Author : Hemang Parikh; diabetes och endokrinologi Genomik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Insulin sensitivity; Type 2 diabetes mellitus; Skeletal muscle; Gene expressionprofiling; TXNIP; Maximal oxygen uptake; Type 1 fibers; NDUFB5; CPT1B; ATP5C1; AHNAK; CAST; Genome-wide association studies.;

    Abstract : Type 2 diabetes mellitus (T2DM) results from interaction between genetic and environmental factors. The worldwide prevalence of T2DM is increasing rapidly due to reduction in physical activity, increase in dietary intake, and the aging of the population. READ MORE