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Showing result 1 - 5 of 7 swedish dissertations matching the above criteria.

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

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

    Abstract : 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. READ MORE

  4. 2. The Importance of Isoprenylation and Nf1 Deficiency in K-RAS-induced Cancer

    Author : Anna-Karin Sjögren; Göteborgs universitet; []
    Keywords : FTase; GGTase-I; isoprenylation; K-RAS; NF1; CAAX proteins; lung cancer; AML;

    Abstract : The RAS and RHO family proteins contribute to tumorigenesis and metastasis and belong to a family of so called CAAX proteins. The membrane targeting and proper function of CAAX proteins are dependent on posttranslational isoprenylation by farnesyltransferase (FTase) or geranylgeranyltransferase type I (GGTase-I). READ MORE

  5. 3. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Author : Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. READ MORE

  6. 4. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Author : Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Abstract : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. READ MORE

  7. 5. Congenital heart disease, genetic syndromes, and childhood cancer

    Author : Christina-Evmorfia Kampitsi; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Childhood cancer is a diverse group of rare diseases and remains a significant global concern, despite substantial improvements in survival outcomes. Yet, little is known about its etiology. READ MORE