Sökning: "Nucleotide polymorphism"

Visar resultat 1 - 5 av 204 avhandlingar innehållade orden Nucleotide polymorphism.

1. 1. THE ANDROGEN RECEPTOR GGN POLYMORPHISM. Genetic and functional analyses

   Författare :Kristina Lundin; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine human and vertebrates ; Functional domain; Genetic predisposition; Reproductive function; Sex hormone; Transactivation function; Repeat; Polymorphism; Androgen receptor; Transcription factor; Medicin människa och djur ; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

   Sammanfattning : Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. LÄS MER

3. 2. On the Tissue-type Plasminogen Activator (t-PA) -7,351C>T Enhancer Polymorphism. Importance for endothelial t-PA gene expression and arterial thrombotic disease

   Författare :Anna Tjärnlund-Wolf; Göteborgs universitet; []
   Nyckelord :tissue-type plasminogen activator; plasminogen activator inhibitor type-1; polymorphism; endothelium; Sp1; gene expression; myocardial infarction; ischemic stroke;

   Sammanfattning : Local endothelial release of tissue-type plasminogen activator (t-PA) is an important thromboprotective mechanism. Earlier work by our group has identified a common single nucleotide polymorphism (SNP) at the t-PA locus (-7,351C>T), located within a GC-box in the retinoic acid (RA) and steroid hormone responsive t-PA enhancer. LÄS MER

4. 3. Genetic Determinants of Dyslipidemia

   Författare :Tibor V Varga; Genetisk och molekylär epidemiologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetic epidemiology; Genetic polymorphism; dyslipidaemia; Cholesterol; Triglyceride; Genetic risk; genetic risk score; Single nucleotide polymorphism; Prediction; Gene-environment interactions; Randomized controlled trial; prospective cohort studies; Observational study; GLACIER Study; Diabetes Prevention Program;

   Sammanfattning : Dyslipidemia is a chronic deviation from normal blood lipid levels that can lead to atherosclerosis and other cardiovascular diseases; dyslipidemia and its sequelae are caused by the complex interplay of genetic and environmental factors. Although circulating concentrations of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (LDL-C) have a strong genetic underpinning, not much is known about the genetic factors that affect long-term deteriorations in lipid concentrations. LÄS MER

5. 4. Osteoprotegerin in Bone Metabolism

   Författare :Helena Brändström; Uppsala universitet; []
   Nyckelord :Medical sciences; Bone; osteoprotegerin; osteoblasts; polymorphism; cytokines; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Bone turnover, remodeling, is a constant process replacing old bone with new. This complex cellular event involves resorption by osteoclasts and formation of new bone by osteoblasts. The balance between osteoblastic and osteoclastic activity is under regulation by several endocrine and paracrine factors. LÄS MER

7. 5. Antibody responses and Fc gamma receptor IIa polymorphism in relation to Plasmodium falciparum malaria

   Författare :Nnaemeka C. Iriemenam; Klavs Berzins; Marita Troye-Blomberg; Philippe Deloron; Stockholms universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; malaria; Plasmodium falciparum; blood-stage; antibodies; antigens; logistic models; risk factors; age factors; merozoites; IgG subclasses; Fc gamma RIIa; single nucleotide polymorphism; ethnicity; endemicity; disease susceptibility; Immunology; Immunologi; immunologi; Immunology;

   Sammanfattning : Immunity to asexual blood-stage of Plasmodium falciparum malaria is believed to be associated with protective antibodies of certain immunoglobulin classes and subclasses. This thesis addressed the importance of antibodies in relation to malaria infection and their effective interactions with Fc gamma receptor IIa (FcyRIIa) polymorphisms. LÄS MER