Sökning: "Kerstin Lindblad-Toh"

Visar resultat 1 - 5 av 12 avhandlingar innehållade orden Kerstin Lindblad-Toh.

  1. 1. Immunological Studies using Human and Canine Model Disorders

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Kerstin M. Ahlgren; Anna Lobell; Olle Kämpe; Kerstin Lindblad-Toh; Roland Jonsson; [2011]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Autoimmunity; T cell; T helper cell; B cell; Autoantibodies; Interferon; Interleukin; Dogs; APS-1; Candida albicans; fungus; Immunologi; Immunology; Medicin; Medicine;

    Sammanfattning : The studies presented in this thesis focus on human and canine models for autoimmune disease, with the main aim to gain new knowledge about disease mechanisms and to further evaluate the dog as a model for autoimmune disease.Autoimmune Polyendocrine Syndrome type 1 (APS-1) is a hereditary human multiorgan disease caused by mutations in the autoimmune regulator (AIRE) gene. LÄS MER

  2. 2. Meiotic Recombination in Human and Dog Targets, Consequences and Implications for Genome Evolution

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Jonas Berglund; Matthew Webster; Kerstin Lindblad-Toh; Leif Andersson; Nadia Singh; [2014]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; recombination; biased gene conversion; CpG island; copy number variation; substitutions; methylation; Bioinformatics; Bioinformatik; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution; Molekylär genetik; Molecular Genetics;

    Sammanfattning : Understanding the mechanism of recombination has important implications for genome evolution and genomic variability. The work presented in this thesis studies the properties of recombination by investigating the effects it has on genome evolution in humans and dogs. LÄS MER

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Freyja Imsland; Leif Andersson; Gabriella Lindgren; Kerstin Lindblad-Toh; Eiríkur Steingrímsson; [2015]
    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

  4. 4. Functional Studies of Genes Associated with Muscle Growth in Pigs and Hair Greying in Horses

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Lin Jiang; Leif Andersson; Kerstin Lindblad-Toh; Gerli Pielberg; Christopher Tuggle; [2012]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; QTN; muscle development; IGF2; ZBED6; RNA-seq; ChIP-seq; myoblasts; pancreatic beta cells; Grey horse; melanoma; MITF; Biologi med inriktning mot molekylär cellbiologi; Biology with specialization in Molecular Cell Biology;

    Sammanfattning : Domestic animals have become very different from their wild ancestors during domestication and animal breeding. This provides a good model to unravel the molecular mechanisms underlying phenotypic variation. In my thesis I have studied genes affecting two important traits, leanness in pigs and hair greying-associated melanoma in horses. LÄS MER

  5. 5. Complex disease genetics Utilising targeted sequencing and homogeneous ancestry

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; [2019]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ankylosing spondylitis; breast cancer; targeted sequencing; Sweden; genetics; population stratification.; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. LÄS MER