Sökning: "Somatic gene mutation"

Visar resultat 1 - 5 av 66 avhandlingar innehållade orden Somatic gene mutation.

  1. 1. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

  3. 2. Mitotic Kinesin-Like Protein 1 (MKLP1/KIF23) in hereditary congenital dyserythropoietic anemia type III and in cancer

    Författare :Ann-Louise Vikberg; Irina Golovleva; Monica Holmberg; Masanori Mishima; Pontus Aspenström; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alternative splicing; Cell division; COPI; Congenital dyserythropoietic anemia; Cytokinesis; Gene expression; KIF23 protein human; Cancer; MKLP1 protein mouse; Mutation; medicinsk genetik; Medical Genetics;

    Sammanfattning : A hereditary form of autosomal dominant congenital dyserythropoietic anaemiatype III (CDA III) has been reported in four families from Sweden, Argentina, Cuba and USA. CDA III patients might experience signs of mild anaemia and some of them need occasional blood transfusions. LÄS MER

  4. 3. Gene conversion of the mouse MHC class II

    Författare :Kari Högstrand; Ulf Gyllensten; Stockholms universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MHC; H2; gene conversion; evolution; polymorphism; Immunology; Immunologi; immunologi; Immunology;

    Sammanfattning : The major histocompatibility complex (MHC) is the most polymorphic vertebrate gene loci known to exist. Gene products of the MHC are responsible for presentation of antigen derived peptides to T cells of the immune system, which thereby become activated and involved in the elimination of particles recognised as non-self. LÄS MER

  5. 4. From gene therapy to somatic mutagenesis : insights into the common Hutchinson-Gilford progeria syndrome mutation

    Författare :Daniel Whisenant; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mutations of the human genome can cause a large variety of genetic diseases, such as the Hutchinson-Gilford progeria syndrome (HGPS). The LMNA c.1824C>T point mutation amplifies a cryptic splice event within exon 11 of the LMNA gene, producing a toxic protein called progerin. LÄS MER

  7. 5. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

    Författare :Anjila Koul; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

    Sammanfattning : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. LÄS MER