Sökning: "gain-of-function"

Visar resultat 1 - 5 av 62 avhandlingar innehållade ordet gain-of-function.

  1. 1. Gain-of-function induced defects by PITX2 in eye and limb development

    Författare :Johan K Holmberg; Muskelbiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : My research has been focused on eye and limb development with regard to the transcription factor PITX2. In the first paper we present an Axenfeld-Rieger syndrome PITX2 gain-of-function eye mouse model. Axenfeld-Rieger syndrome is a rare autosomal disorder affecting the development of eyes, teeth and abdomen. LÄS MER

  3. 2. Anaplastic Lymphoma Kinase mutations and downstream signalling

    Författare :Christina Schönherr; Ruth H Palmer; Aristidis Moustakas; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Anaplastic Lymphoma Kinase; oncogene; RTK; neuroblastoma; crizotinib; NVP-TAE684; gain-of-function; MYCN; transcription factor; small GTPase; Rap1; C3G; PC12 cells; neurite outgrowth; molecular cell biology; molekylär cellbiologi;

    Sammanfattning : The oncogene Anaplastic Lymphoma Kinase (ALK) is a Receptor Tyrosine Kinase (RTK) and was initially discovered as the fusion protein NPM (nucleophosmin)-ALK in a subset of Anaplastic Large Cell Lymphomas (ALCL). Since then more fusion proteins have been identified in a variety of cancers. LÄS MER

  4. 3. RNA binding proteins and epigenetics in SCA7

    Författare :Frida Niss; Anna-Lena Ström; Ann-Kristin Östlund-Farrants; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

    Sammanfattning : Polyglutamine diseases are a group of nine disorders that includes, among others SCA7. The common denominator is an expanded glutamine tract in the respective disease protein caused by unstable replication during meiosis. LÄS MER

  5. 4. Exploiting Drosophila as a model system for studying anaplastic lymphoma kinase in vivo

    Författare :Therese Eriksson; Ruth Palmer; Stefan Thor; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Anaplastic lymphoma kinase; Receptor tyrosine kinase; Jeb; neuroblastoma; actin polymerization; Wasp; Scar; Vrp1; Arp2 3; Molecular biology; Molekylärbiologi; molekylärbiologi; Molecular Biology;

    Sammanfattning : Anaplastic Lymphoma Kinase (ALK) is a Receptor Tyrosine Kinase (RTK) and an oncogene associated with several human diseases, but its normal function in humans and other vertebrates is unclear. Drosophila melanogaster has an ALK homolog, demonstrating that the RTK has been conserved throughout evolution. LÄS MER

  7. 5. Regulators of Membrane Fluidity

    Författare :Kiran Busayavalasa; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PAQR; LRIG; membrane fluidity;

    Sammanfattning : Caenorhabditis elegans PAQR-2 (a homolog of the mammalian AdipoR1 and AdipoR2 proteins) and IGLR-2 (homolog of the mammalian LRIG proteins) form a complex at the plasma membrane that regulates fatty acid desaturation to protect against saturated fatty acid-induced membrane rigidification. Maintenance of membrane homeostasis is fundamental for most cellular processes and, given its importance, robust regulatory mechanisms must exist that adjust lipid composition to compensate for dietary variation. LÄS MER