Search for dissertations about: "disease gene"

Showing result 16 - 20 of 2159 swedish dissertations containing the words disease gene.

  2. 16. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Author : Peter Gustavsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. READ MORE

  4. 17. Genetic diversity of the heat labile (LT) and heat stable (ST) toxins of human enterotoxigenic Escherichia coli (ETEC): New insights into polymorphism, regulation, and gene transcription

    Author : Enrique Joffre; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ETEC; diversity; bacterial enterotoxins; polymorphism; gene regulation; gene transcription; Diarrhoeal disease; bacterial infection;

    Abstract : Infection with enterotoxigenic Escherichia coli (ETEC) is a leading cause of diarrhea in children in developing countries and travelers to endemic regions. ETEC is a diverse pathogen, with a wide range of virulence factors including enterotoxins and more than 25 identified colonization factors (CFs). READ MORE

  5. 18. Gene Expression Studies of Hematologic Malignacies

    Author : Anna Andersson; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; extracellular fluids; Haematology; cancer; onkologi; Cytologi; oncology; Cytology; acute myeloid leukemia; acute lymphoblastic leukemia; normal hematopoietic cells; cDNA microarray; gene expression profiling; hematopoiesis; pediatric leukemia; fusion gene; Pediatrics; Pediatri; Clinical genetics; Klinisk genetik; cancerology; Hematologi; extracellulära vätskor;

    Abstract : The general aim of this thesis was to characterize hematologic malignancies using gene expression profiling in order to obtain an improved classification and to study deregulated transcriptional networks in leukemia. In the first study (Article I), the gene expression profiles of hematologic cell lines were analyzed to investigate whether such cell lines maintain expression profiles that are characteristic of their primary genetic changes. READ MORE

  6. 19. A peripheral immune response in Huntington's disease and delineation of its importance in disease pathology

    Author : Anna Magnusson-Lind; Biomarkörer vid hjärnsjukdomar; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington s disease; peripheral symptoms; immune response; muscle atrophy; cytokines; gene expression; JAK STAT; NFkB; IL-6; TNF-alpha;

    Abstract : Huntington’s disease (HD) is a fatal, hereditary disease for which there is no cure. It is caused by a mutation in a gene called huntingtin. HD is a so-called neurodegenerative disease, where there is a loss of neurons in areas of the brain that control body movements. This results in uncontrolled dance-like movements (chorea). READ MORE

  7. 20. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

    Author : Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; ankylosing spondylitis; breast cancer; targeted sequencing; Sweden; genetics; population stratification.; Molekylär genetik; Molecular Genetics;

    Abstract : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. READ MORE