Sökning: "Kerstin Lindblad-Toh"
Visar resultat 1 - 5 av 12 avhandlingar innehållade orden Kerstin Lindblad-Toh.
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. Meiotic Recombination in Human and Dog : Targets, Consequences and Implications for Genome Evolution
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. Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits
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
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
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