Sökning: "modifier genes"
Visar resultat 1 - 5 av 21 avhandlingar innehållade orden modifier genes.
1. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes
Sammanfattning : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. LÄS MER
2. Genetic predisposition for cancer : genes and genetic counseling
Sammanfattning : Breast cancer accounts for one third of all female cancer cases worldwide. A hereditary component accounts for 10-15% of all breast and ovarian cancer cases. The overall aim of this thesis is to evaluate and improve genetic diagnostic and genetic counseling in hereditary cancer patients. LÄS MER
3. Genetic variation in genes involved in Abeta-degradation in Alzheimer disease
Sammanfattning : Alzheimer disease (AD) is a neurodegenerative disorder that causes dementia among mainly elderly people and is increasing in prevalence in industrialized societies from 1 to 3 % in 60-65 year-olds to as much as 50 % by age 95. This disease is complex. Multiple genes are involved, and they potentially affect each other. LÄS MER
4. A study on the role of genes of innate immunity in type 1 diabetes
Sammanfattning : Type 1 diabetes (T1D) is caused by autoimmune destruction of insulin-producing pancreatic beta-cells. It is a polygenic disease in which maximal genetic susceptibility is conferred by the presence of MHC class II genes. LÄS MER
5. Expression, regulation and fuction of small ubiquitin-related modifier-1. Interaction with nuclear proteins in vivo
Sammanfattning : The small ubiquitin-related modifier-1 (SUMO-1) is a 101-amino acid, ~12 kDa protein that is 18% identical to ubiquitin. Posttranslational covalent tagging of proteins with SUMO-1 (SUMOylation) serves many functions. For example, regulation of protein stability and modulation of transcriptional activation. LÄS MER