Search for dissertations about: "modifier genes"

Showing result 1 - 5 of 21 swedish dissertations containing the words modifier genes.

2. 1. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

   Author : Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

   Abstract : 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. READ MORE

4. 2. Genetic predisposition for cancer : genes and genetic counseling

   Author : Johanna Rantala; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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. READ MORE

5. 3. Genetic variation in genes involved in Abeta-degradation in Alzheimer disease

   Author : Mia Blomqvist; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Alzheimer disease; SNPs; genotyping; association study; haplotype; linkage disequilibrium; association mapping;

   Abstract : 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. READ MORE

6. 4. A study on the role of genes of innate immunity in type 1 diabetes

   Author : Saikiran K Sedimbi; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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. READ MORE

7. 5. Expression, regulation and fuction of small ubiquitin-related modifier-1. Interaction with nuclear proteins in vivo

   Author : Linus Ruijin Shao; Göteborgs universitet; []
   Keywords : SUMO-1; LH receptor; PR isoforms; caspase-3; DNA fragmentation; apoptosis; granulosa cells; HIF-1alpha; hypoxia; brain and heart;

   Abstract : 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. READ MORE