Sökning: "parent-of-origin"
Visar resultat 1 - 5 av 21 avhandlingar innehållade ordet parent-of-origin.
1. Fetal programming and parent-of-origin effects of type 2 diabetes and insulin secretion
Sammanfattning : Abstract Type 2 diabetes mellitus (T2DM) is a heterogeneous and a complex disease defined by hyperglycemia. Thepancreas and its islets are central for glucose homeostasis and healthy adipose tissue. In turn, lipid levels in the bloodare crucial for glucose level stability. LÄS MER
2. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease
Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER
3. Genetic dissection of multifactorial disease models in the rat
Sammanfattning : Type 2 diabetes (T2D) is characterized by two apparently distinct pathophysiologic defects - insulin resistance and a failure of the pancreatic Beta-cells to compensate for this resistance by appropriately increasing insulin secretion. There is strong evidence for an important role of genetics in both of these components. LÄS MER
4. Genetic studies in familial non-BRCA breast cancer
Sammanfattning : Family history is an important risk factor for breast cancer, the presence of breast cancer in a first degree relative in general nearly doubles the risk and the risk increases with the number of affected relatives. Pathogenic mutations in BRCA1, BRCA2 and other high- and moderate risk-genes account for 25% of the familial risk for breast cancer. LÄS MER
5. Genetic and epigenetic factors shaping the transcriptome in multiple sclerosis and its animal model
Sammanfattning : Multiple Sclerosis (MS) is a chronic inflammatory and demyelinating disease of the central nervous system. Susceptibility to develop MS is determined by both genetic and environmental factors. The epigenome resides in the interface of genetic and environmental factors thereby shaping the transcriptome. LÄS MER