Sökning: "splice mutations"

Visar resultat 21 - 25 av 60 avhandlingar innehållade orden splice mutations.

  1. 21. Gastrointestinal stromal tumors. Pathogenetic mechanisms, phenotypic characterization and prognosis

    Författare :Johanna Andersson; Göteborgs universitet; []
    Nyckelord :Gastrointestinal stromal tumor GIST ; neurofibromatosis type I NF1 ; mutation; prognosis; denaturating high performance liquid chromatography dHPLC ; sequencing; KIT; PDGFRA; NF1;

    Sammanfattning : Gastrointestinal stromal tumor (GIST), the most common non-epithelial neoplasm of the gastrointestinal tract, has historically been problematic both conceptually and clinically. Recently, GIST has been shown to share phenotypic features with the interstitial cells of Cajal (ICC), including the almost uniform expression of the tyrosine kinase receptor KIT. LÄS MER

  3. 22. Genetic studies of frontotemporal dementia : with particular emphasis on the tau gene

    Författare :Susanne Froelich Fabre; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Frontotemporal dementia (FTD) is next to Alzheimer's disease one of the common causes of early onset progressive dementia. FTD is mainly characterized by personality changes such as disinhibition, although there are large clinical and neuoropathological variations among the cases. LÄS MER

  4. 23. Molecular genetics of hereditary non-polyposis colorectal cancer

    Författare :Pia Tannergård; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Colorectal cancer (CRC) is one of the most prevalent malignancies in the Western World and one of the most predominant causes of death by cancer. There is a subgroup of syndromes with a high incidence of CRC which is transmitted in an autosomal dominant fashion. LÄS MER

  5. 24. Molecular archaeology of cancer

    Författare :Cecilia Williams; KTH; []
    Nyckelord :;

    Sammanfattning : Alterations of the p53 tumor suppressor gene plays animportant role in the development of many types of cancers.This and the suggestion that the presence or absence of p53mutations might have both prognostic and therapeuticconsequences, imply the importance of reliable techniques forp53 sequence determination. LÄS MER

  7. 25. Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia

    Författare :Marju Orho-Melander; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; GYS2; GYS1; glycogen synthase; glycogen; insulin resistance; hypoglycaemia; liver glycogen synthase deficiency; glycogen storage disease type 0; Type 2 diabetes; metabolic syndrome; expression; chromosome 19; 19q13.3; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Effective insulin-stimulated storage of excess glucose after a meal, and its rapid mobilisation in the fasting state provide basis of glucose homeostasis. Glycogen is the macromolecular storage form of glucose and glycogen synthase (GS) is the rate-limiting enzyme in glycogen synthesis. Skeletal muscle and liver are the major depots of glycogen. LÄS MER