Sökning: "Alternative Splicing"

Visar resultat 21 - 25 av 125 avhandlingar innehållade orden Alternative Splicing.

  1. 21. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy

    Författare :Elin Larsson; Monica Holmberg; Geoff Woods; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; monogenic; disease; NGF; receptor; pain insensitivity; ISCU; myopathy; splicing; molecular medicine medical sciences ; molekylär medicin medicinska vetenskaper ;

    Sammanfattning : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. LÄS MER

  3. 22. Bestrophin-3: Localization and function in normal and injured tissues

    Författare :Veronika Golubinskaya; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bestrophin-3; alternative splicing; injury;

    Sammanfattning : Bestrophin-3 (Best3) is a protein with multiple functions. It can constitute a calcium-activated chloride channel when overexpressed in cultured cells, but the function of Best3 is not well studied in cells in situ. Recently Best3 protein was suggested to play also cell-protective role. LÄS MER

  4. 23. Cell-penetrating peptides, novel synthetic nucleic acids, and regulation of gene function : Reconnaissance for designing functional conjugates

    Författare :Peter Guterstam; Ülo Langel; Stockholms universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cell-penetrating peptide; nucleic acids; alternative splicing; mismatch discrimination; Neurochemistry; Neurokemi;

    Sammanfattning : Our genome operates by sending instructions, conveyed by mRNA, for the manufacture of proteins from chromosomal DNA in the nucleus of the cell to the protein synthesizing machinery in the cytoplasm. Alternative splicing is a natural process in which a single gene can encode multiple related proteins. LÄS MER

  5. 24. New insight into myocardin regulation and function in smooth muscle cells

    Författare :Li Liu; Institutionen för experimentell medicinsk vetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alternative splicing; Contractility; Inflammation; Muscarinic receptor; Myocardin-related transcription factors; Phenotypic modulation; Smooth muscle; SRF; WWTR1; YAP1;

    Sammanfattning : Smooth muscle cells (SMCs) are constituents of hollow inner organs. Their contractile function governs essential physiological functions, such as breathing, eating, blood pressure control, urination, and childbirth. LÄS MER

  7. 25. Functional Significance of Multiple Poly(A) Polymerases (PAPs)

    Författare :Helena Nordvarg; Claire Moore; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; poly A polymerase; PAP; phosphorylation; isoforms; alternative splicing; kinetic parameters; hyperphosphorylation; regulation; Genetik; Poly A polymeras; PAP; fosforylering; isoformer; alternativ splitsning; kinetiska parametrar; reglering; Clinical genetics; Klinisk genetik; molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : 3’ end cleavage and polyadenylation are important steps in the maturation of eukaryotic mRNAs. Poly(A) polymerase (PAP), the enzyme catalysing the addition of adenosine residues, exists in multiple isoforms. In this study the functional significance of multiple poly(A) polymerases have been investigated. LÄS MER