Sökning: "Genetik"
Visar resultat 16 - 20 av 1245 avhandlingar innehållade ordet Genetik.
16. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling
Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER
17. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders
Sammanfattning : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. LÄS MER
18. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden
Sammanfattning : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. LÄS MER
19. Growth control mechanisms in normal and neoplastic mammalian cells
Sammanfattning : The main theme of the studies presented in this thesis is, the growth control mechanisms whose loss in normal cells predispose to or cause cancer. The balance between growth inhibitory and stimulatory mechanisms is crucial for the development and maintenance of a normal animal. LÄS MER
20. Expression of TGF- isoforms, their receptors and related SMAD proteins in brain pathology : Immunohistochemical studies focusing on infarcts, abscesses and malignant gliomas
Sammanfattning : This thesis focuses on the immunohistochemical expression of transforming growth factor beta(TGFβ) isoforms, their receptors and TGF-β-related SMAD proteins in brain pathology, chiefly in-farcts. One key question was whether the expressions of these compounds are altered within glial cells, endothelial cells of microvessels and other cell types in the vicinity of infarcts. LÄS MER