Sökning: "alleles"

Visar resultat 26 - 30 av 438 avhandlingar innehållade ordet alleles.

1. 26. Genetic studies of the HLA locus in rheumatic diseases

   Författare :Emeli Lundström; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) share a complex etiology consisting of both genetic and environmental components. Stimulation of lymphocytes and various other immune cells, release of cytokines, activation of complement and production of autoantibodies due to loss of tolerance to self-antigens, contributes to the pathogenesis of both RA and SLE. LÄS MER

3. 27. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

   Författare :Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

   Sammanfattning : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. LÄS MER

4. 28. Molecular regulation of microsomal triglyceride transfer protein gene, MTP : functional genetic studies in relation to cardiovascular disease

   Författare :Helena Ledmyr; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Microsomal triglyceride transfer protein; polymorphism coronary heart disease; CHD; cardiac lipid metabolism; protein function; functional promoter studies;

   Sammanfattning : The microsomal triglyceride transfer protein, MTP, is expressed mainly in the liver, intestine and in the heart. It is crucial for the assembly and secretion of apob-containing lipoproteins, chylomicrons in the intestine and very-low density lipoproteins (VLDL) in the liver. LÄS MER

5. 29. Using Minisequencing Technology for Analysing Genetic Variation in DNA and RNA

   Författare :Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; minisequencing; molecular medicine; single nucleotide polymorphism; stem cell transplantation; whole genome amplification; allelic imbalance; alternative splicing; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : In this thesis, the four-color fluorescence tag-microarray minisequencing system pioneered by our group was further developed and applied for analysing genetic variation in human DNA and RNA. A SNP marker panel representing different chromosomal regions was established and used for identification of informative SNP markers for monitoring chimerism after stem cell transplantation (SCT). LÄS MER

7. 30. Immunogenetics of Type 1 diabetes and Celiac disease

   Författare :Shehab Abdulaziz Alshiekh; Celiaki och diabetes; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; celiac disease; type 1 diabetes; children; genetics; human leukocyte antigen; next generation sequencing;

   Sammanfattning : AbstractThe primary purpose of understanding disease etiology is to explain how a specific phenotype is determined by genotype. In pursue of this aim, exploring the diversity in DNA sequence variants that affect biomedical traits, especially those related to the onset and progression of genetically determined human disease. LÄS MER