Sökning: "NBS1"
Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet NBS1.
1. Signalling pathways in renal cell carcinoma with a focus on telomerase regulation
Sammanfattning : 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. LÄS MER
2. Functional analysis of ATM with relevance for primary immunodeficiency and tumor formation
Sammanfattning : 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. LÄS MER
3. Influence of genetic polymorphisms on DNA repair, p53 mutations and cancer risk
Sammanfattning : 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. LÄS MER
4. Role of DNA repair in class switch recombination and somatic hypermutation
Sammanfattning : 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. LÄS MER
5. DNA repair pathways and the effect of radiotherapy in breast cancer
Sammanfattning : 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. LÄS MER