Sökning: "monogenic"

Visar resultat 1 - 5 av 41 avhandlingar innehållade ordet monogenic.

  1. 1. 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. 2. Genetic and Molecular Studies of Two Hereditary Skin Disorders

    Författare :Johanna Dahlqvist; Niklas Dahl; Anders Vahlquist; Juha Kere; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Monogenic disorder; autosomal recessive congenital ichthyosis; KLICK syndrome; Ichthyin; POMP; proteasome; epidermal differentiation; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

    Sammanfattning : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. LÄS MER

  4. 3. Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits

    Författare :Freyja Imsland; Leif Andersson; Gabriella Lindgren; Kerstin Lindblad-Toh; Eiríkur Steingrímsson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; Structural variation; Pigmentation; Domestication; Equids; MNR2; CCDC108; STX17; TBX3; Grey; Dun; non-dun; Rose-comb; Chicken; Genetic mapping; Phenotyping; Molekylär genetik; Molecular Genetics;

    Sammanfattning : Domestic animals have rich phenotypic diversity that can be explored to advance our understanding of the relationship between molecular genetics and phenotypic variation. Since the advent of second generation sequencing, it has become easier to identify structural variants and associate them with phenotypic outcomes. LÄS MER

  5. 4. Linkage analysis as a tool to study monogenic and complex disorders

    Författare :Mats Sundvall; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

  7. 5. Genetic causes and underlying disease mechanisms in early-onset osteoporosis

    Författare :Anders Kämpe; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Adult-onset osteoporosis is a disorder that affects a significant proportion of the elderly population worldwide and entails a substantial disease burden for the affected individuals. Childhood-onset osteoporosis is a rare condition often associating with a severe bone disease and recurrent fractures already in early childhood. LÄS MER