Sökning: "Nijmegen breakage syndrome"

Hittade 4 avhandlingar innehållade orden Nijmegen breakage syndrome.

1. 1. The immortalization process of T cells : with focus on the regulation of telomere length and telomerase activity

   Författare :Sofie Degerman; Göran Roos; John Sedivy; Umeå universitet; []
   Nyckelord :immortalization; senescence; T cells; Nijmegen breakage syndrome; telomere; telomerase; hTERT; generic aberrations; methylation; MEDICINE; MEDICIN; Pathology; patologi;

   Sammanfattning : Cellular immortalization is a major hallmark of cancer and is a multi-step process that requires numerous cell-type specific changes, including inactivation of control mechanisms and stabilization of telomere length. The telomeres at the chromosome ends are essential for genomic stability, and limit the growth potential of most cells. LÄS MER

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

   Författare :Aleksi Lähdesmäki; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   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

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

   Författare :Likun Du; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   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. 4. Identification and characterization of small molecules targeting MYC function

   Författare :Qinzi Yan; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The MYC family genes (c-, N- and L-MYC) encode potent oncoproteins/transcription factors regulating fundamental cellular processes involved in cell proliferation, metabolism and survival, and they play an important role in tumor development. Overexpression of MYC often induce apoptosis as a failsafe mechanism to prevent tumor development and it is known to sensitize cells to genotoxic agents that induce DNA damage by triggered apoptosis. LÄS MER