Search for dissertations about: "regulatory SNP"

Showing result 6 - 10 of 38 swedish dissertations containing the words regulatory SNP.

2. 6. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

   Author : Hammurabi Bartuma; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

   Abstract : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. READ MORE

4. 7. Array-based Characterization of Chronic Lymphocytic Leukemia : - with Focus on Subsets Carrying Stereotyped B-cell Receptors

   Author : Millaray Marincevic; Richard Rosenquist; Andreas Rosenwald; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; array-based characterization; stereotyped B-cell receptors; subsets; antigens; SNP array; gene expression array; methylation array; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

   Abstract : In chronic lymphocytic leukemia (CLL), the presence of multiple subsets expressing ‘stereotyped’ B-cell receptors (BCRs) has implicated antigen(s) in leukemogenesis. These stereotyped subsets display similar immunoglobulin (IG) gene usage, almost identical complementarity determining region 3’s and may share clinical features. READ MORE

5. 8. Genetic analysis of IL7R and other immune-regulatory genes in multiple sclerosis

   Author : Frida Lundmark; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Multiple sclerosis is a chronic neurological disease, where both genetic and environmental factors are influencing the susceptibility and pathogenesis. Epidemiological studies have clearly demonstrated the existence of a genetic component by comparing the degree of shared genetic material and the risk of MS, where the degree of shared genetic material clearly correlates with the risk of MS. READ MORE

6. 9. Gene-environment interactions between HPA axis regulatory genes and stressful life events in suicide attempts

   Author : Yair Jacob Ben-Efraim; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Suicide is a leading cause of death. In the future, treatment for suicidal behavior, as well as public health prevention and/or intervention efforts, may be guided by genetic epidemiology. This research is informed by biological alterations which have been previously observed in suicidal behavior. READ MORE

7. 10. The Genetics of Systemic Lupus Erythematosus : The Specificity of IRF5 to SLE

   Author : MV Prasad Linga Reddy; Marta Alarcön Riquelme; Dan Holmberg; Uppsala universitet; []
   Keywords : Molecular genetics; Systemic lupus erythematosus; Interferon regulatory factor 5; Transmission-Disequilibrium Test; Family-based association test; Linkage Disequilibrium; Hardy-Weinberg equilibrium; Genetik;

   Abstract : The breakdown of self-tolerance is the main driving force behind susceptibility to SLE. When this occurs, T and B cells are activated in an uncontrolled manner and produce autoantibodies against self fragmented DNA, RNA and sometimes other parts of the cell such as cardiolipin, phosphatidylserine, etc. READ MORE