Search for dissertations about: "Genetik"

Showing result 16 - 20 of 1234 swedish dissertations containing the word Genetik.

  2. 16. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Author : Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Abstract : 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. READ MORE

  4. 17. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders

    Author : Sethu Madhava Rao Gunja; Anders Virtanen; Jonas von Hofsten; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PARN; Telomere biology disorders; snoRNAs; scaRNAs; TR TERC; Zebrafish; Biology with specialization in Molecular Cell Biology; Biologi med inriktning mot molekylär cellbiologi; Molekylär genetik; Molecular Genetics; Molekylär cellbiologi; Molecular Cellbiology;

    Abstract : 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. READ MORE

  5. 18. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

    Author : Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

    Abstract : 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. READ MORE

  6. 19. Growth control mechanisms in normal and neoplastic mammalian cells

    Author : Mozhgan Afrakhte; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; PDGF-AA; TGF-beta; Inhibitory SMADs; Growth inhibition; CDK; CKI; Cdc25A; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Abstract : 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. READ MORE

  7. 20. Expression of TGF- isoforms, their receptors and related SMAD proteins in brain pathology : Immunohistochemical studies focusing on infarcts, abscesses and malignant gliomas

    Author : Ahmad Khaled Ata; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; TGF-beta receptor; SMAD; brain; infarct; abscess; glioma; experimental; human; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Abstract : 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. READ MORE