Search for dissertations about: "NBS1"

Showing result 1 - 5 of 6 swedish dissertations containing the word NBS1.

  2. 1. Signalling pathways in renal cell carcinoma with a focus on telomerase regulation

    Author : Raviprakash Tumkur Sitaram; Göran Roos; Anders Bjartell; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Renal cell carcinoma; DJ-1; NBS1; PTEN; WT1; cMyc; hTERT; telomerase; Pathology; Patologi; patologi; Pathology;

    Abstract : Telomerase is a ribonucleoprotein complex that catalyses telomeric repeat addition at the ends of chromosomes. The catalytic subunit, hTERT, acts as a key determinant for telomerase activity control; the induction of hTERT expression is required for telomerase activity. READ MORE

  4. 2. Functional analysis of ATM with relevance for primary immunodeficiency and tumor formation

    Author : Aleksi Lähdesmäki; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by cerebellar degeneration with ataxia, ocular and cutaneous telangiectasias, radiosensitivity, chromosomal instability, immunodeficiency, and cancer predisposition in both patients and heterozygous carriers of the gene. The gene responsible for the disorder, ATM, has been identified as a member of a family of phosphatidylinositol 3-kinaserelated genes and is one of the master controllers of the networks that are involved in cell cycle control and response to DNA damage. READ MORE

  5. 3. Influence of genetic polymorphisms on DNA repair, p53 mutations and cancer risk

    Author : Charlotta Ryk; Karolinska Institutet; Karolinska Institutet; []
    Keywords : polymorphisms; metabolism; DNA repair; p53; lung cancer; bladder cancer;

    Abstract : Individuals have different susceptibility towards environmental exposures that may cause or contribute to disease. This inter-individual variation is partly due to genetic polymorphisms in genes involved in DNA repair and metabolism, which have potential to modulate the function of the encoded proteins. READ MORE

  6. 4. Role of DNA repair in class switch recombination and somatic hypermutation

    Author : Likun Du; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Class switch recombination (CSR) and somatic hypermutation (SHM), occurring in the germinal center, are two important processes for B cell development. Both are initiated by activation-induced cytidine deaminase (AID), through deamination of the C residues in the variable and switch regions of the immunoglobulin locus, resulting in either in single stranded or double stranded DNA breaks. READ MORE

  7. 5. DNA repair pathways and the effect of radiotherapy in breast cancer

    Author : Karin Söderlund Leifler; Marie Askmalm Stenmark; Olle Stål; Bo Stenerlöw; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : A large proportion of breast cancer patients are treated with radiotherapy. Ionising radiation induces different DNA damages, of which double-strand breaks are the most severe. They are mainly repaired by homologous recombination or non-homologous end-joining. Different protein complexes have central roles in these repair processes. READ MORE