Sökning: "Lipofuscin"

Visar resultat 11 - 14 av 14 avhandlingar innehållade ordet Lipofuscin.

  1. 11. Analysis of the Gene and Protein Causing Best Macular Dystrophy

    Författare :Benjamin Bakall; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; VMD2; bestrophin; macular degenration; mutation analysis; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. LÄS MER

  3. 12. Models of Retinal Development and Disease

    Författare :Minas Hellsand; Finn Hallböök; Emma Andersson; Department of Cell and Molecular Biology Karolinska Institutet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Developmental neurobiology; retinal organoids; retinoblastoma; MYCN; Stargardt disease; Bardet-Biedl syndrome; model systems;

    Sammanfattning : For a model of a human disease to be valid and useful, it is important that key genotypic and phenotypic traits are shared between model system and human. The work in this thesis has been focused on generating new and characterizing spontaneous models of three genetic disorders affecting the retina: retinoblastoma, a childhood cancer with its origin in the fetal retina, Stargardt disease, a juvenile form of macular degeneration, and Bardet-Biedl syndrome, a pleiotropic ciliopathy featuring retinal degeneration. LÄS MER

  4. 13. Localization of five human genes by clinical and molecular genetic methods

    Författare :Mihailo Vujic; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

    Sammanfattning : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. LÄS MER

  5. 14. Oxidative stress-related damage of retinal pigment epithelial cells : possible protective properties of autophagocytosed iron-binding proteins

    Författare :Markus Karlsson; Christina Frennesson; Sven Erik Nilsson; Tino Kurz; Ulf Brunk; Anders Kvanta; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Oxidative stress is a major pathogenic factor in the development of age-related macular degeneration (AMD), which is the most common cause of severe central visual impairment in the elderly population in the western world.It is believed that the degenerative process starts in the retinal pigment epithelium (RPE). LÄS MER