Sökning: "Funktionella Varianter"
Visar resultat 1 - 5 av 12 avhandlingar innehållade orden Funktionella Varianter.
1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants
Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER
2. MHC polymorphism and host-pathogen interactions: The case of Borrelia in its reservoir host, the bank vole Myodes glareolus
Sammanfattning : The major histocompatibility complex (MHC) class IIB genes exhibit extensive allelic polymorphism, most likely maintained by pathogen-mediated balancing selection (PMBS). PMBS may operate in the form of heterozygote advantage (HA), and/or through the interaction of pathogens and specific MHC alleles via fluctuating selection (FS) or negative frequency-dependent selection (NFDS). LÄS MER
3. The impact of glucotoxicity on pancreatic β-cell function
Sammanfattning : Type 2 diabetes mellitus is connected with elevated plasma glucose levels which negatively influence β-cells and cause impaired glucose-stimulated insulin secretion (GSIS). The aim of present thesis was to investigate the impact of long-term hyperglycemia on the pancreatic islet β-cell function. LÄS MER
4. Towards understanding of complex disease etiology using sequence Capture Hi-C (HiCap) and associated high throughput functional assays
Sammanfattning : A human genome laid out in a straight line would measure 2m from end to end, but in living cells it is folded into a compact structure contained in a nuclear space with a diameter of 2µm. This compact genome is hierarchically organized and spatiotemporally regulates distinct cellular gene expression mechanisms via promoter - enhancer chromatin loops. LÄS MER
5. Exploring human variations by droplet barcoding
Sammanfattning : Biological variations are being explored at ever-increasing rates through the rapid advancement of analytical techniques. Techniques like massively parallel sequencing empower scientists to accurately differentiate individuals’ genetic compositions, cellular functionalities, and healthy tissue from diseased. LÄS MER