Sökning: "lamin"

Visar resultat 1 - 5 av 16 avhandlingar innehållade ordet lamin.

  1. 1. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

    Författare :Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

    Sammanfattning : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. LÄS MER

  3. 2. The genetic mechanism that links Hutchinson-Gilford progeria syndrome to physiological aging

    Författare :Sofía Rodríguez Vásquez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Aging is a complex process that is not completely understood. The study of segmental progeroid syndromes such as Hutchinson-Gilford progeria syndrome (HGPS) has allowed us to connect the common genetic mechanisms that occur in normal physiological aging, with the cellular alterations presented by this severe premature aging syndrome. LÄS MER

  4. 3. Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance

    Författare :Ylva Rosengardten; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disease that presents some features of accelerated aging. Children with the disease are born appearing healthy but start to develop signs of the disease within their first years of life. LÄS MER

  5. 4. Molecular studies of Hutchinson-Gilford progeria syndrome

    Författare :Hanna Sagelius; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disease, with an incidence of 1 in 4-8 million live births, that causes segmental premature aging in children. The children look normal at birth but begin to develop symptoms of disease within the first years of life. LÄS MER

  7. 5. Epithelial stem cells in Hutchinson-Gilford progeria syndrome

    Författare :Tomás McKenna; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which occurs at around 13 years of age. LÄS MER