Sökning: "cap disease"

Visar resultat 1 - 5 av 42 avhandlingar innehållade orden cap disease.

  1. 1. Muscle diseases with damaged sarcomeres - causes and consequences

    Författare :Monica Ohlsson; Göteborgs universitet; []
    Nyckelord :congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    Sammanfattning : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. LÄS MER

  3. 2. The role of proprotein convertases in vascular disease

    Författare :Bianca E Suur; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : To date, the role of the proprotein convertase subtilisin/kexin (PCSK) family in vascular disease is largely unknown, with the exception of PCSK9 and its key function in lipid metabolism. The PCSK family constitutes of 9 different proteases, of which the first 7 show remarkable structural and functional overlap. LÄS MER

  4. 3. Regulation of the vertebrate transcriptome in development and disease

    Författare :Helena Storvall; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : In the last decade we have seen a tremendous development in the omics area (genomics, transcriptomics, proteomics etc.), making high throughput methods increasingly costeffective and available. LÄS MER

  5. 4. Inflammation and matrix degrading proteases in coronary artery disease

    Författare :Ann Samnegård; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Myocardial infarction; matrix metalloproteinases; inflammation; polymorphism; haplotype; gender; cytokines;

    Sammanfattning : Coronary artery disease (CAD) is a major cause of morbidity and death in the world today. The underlying process, atherosclerosis, is caused by lipid accumulation and inflammatory processes within the intimal layer of the vessel wall. LÄS MER

  7. 5. Functional studies of two forkhead genes

    Författare :Mikael Heglind; Göteborgs universitet; []
    Nyckelord :forkhead genes; Foxs1; Foxi1; vacuolar type H -ATPase; boundary cap; neural crest stem cells;

    Sammanfattning : Forkhead genes are functionally diverse and several have been linked to human disease. A previous screen for forkhead genes identified the family member FOXS1. To characterize the function of this gene, we produced a mouse model in which the Foxs1 gene was replaced by a lacZ marker allele. LÄS MER