Search for dissertations about: "genetic disease models"

Showing result 1 - 5 of 289 swedish dissertations containing the words genetic disease models.

2. 1. Genetic Studies of Rheumatoid Arthritis using Animal Models

   Author : Niklas Nordquist; William Dietrich; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Complex disease; autoimmune; rheumatoid arthritis; genetic; mapping; QTL; locus; linkage; animal model; rat; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Abstract : Predisposition to autoimmune diseases such as, rheumatoid arthritis, diabetes, and multiple sclerosis, is caused by the effect of multiple genes and a strong influence from the environment. In this study, I have investigated genetic factors that confer susceptibility to rheumatoid arthritis in a rat model. READ MORE

4. 2. Genetic Characterization of Chicken Models for Autoimmune Disease

   Author : Anna-Stina Sahlqvist; Olov Ekwall; Olle Kämpe; Leif Andersson; Susanne Kerje; Holger Luthman; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Autoimmune disease; Hashimoto’s thyroiditis; systemic sclerosis; comparative genomics; linkage analysis; OS chickens; spontaneous autoimmune thyroiditis; UCD-200 chickens.; Molekylär medicin; Molecular Medicine;

   Abstract : Autoimmune diseases are endemic, but the disease mechanisms are poorly understood. A way to better understand these are to find disease-regulating genes. However, this is difficult as the diseases are complex, with several genes as well as environmental factors influencing the development of disease. READ MORE

5. 3. Models of Retinal Development and Disease

   Author : Minas Hellsand; Finn Hallböök; Emma Andersson; Department of Cell and Molecular Biology Karolinska Institutet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Developmental neurobiology; retinal organoids; retinoblastoma; MYCN; Stargardt disease; Bardet-Biedl syndrome; model systems;

   Abstract : For a model of a human disease to be valid and useful, it is important that key genotypic and phenotypic traits are shared between model system and human. The work in this thesis has been focused on generating new and characterizing spontaneous models of three genetic disorders affecting the retina: retinoblastoma, a childhood cancer with its origin in the fetal retina, Stargardt disease, a juvenile form of macular degeneration, and Bardet-Biedl syndrome, a pleiotropic ciliopathy featuring retinal degeneration. READ MORE

6. 4. Cardiovascular disease and all-cause mortality : influence of fitness, fatness and genetic factors

   Author : Gabriel Högström; Anna Nordström; Peter Nordström; Johan Sundström; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; all-cause mortality; aerobic fitness; obesity; cardiovascular disease; stroke; myocardial infarction; Epidemiology; epidemiologi; Population studies; befolkningsstudier; Cardiology; kardiologi;

   Abstract : BackgroundLow aerobic fitness and obesity are associated with atherosclerosis, and thereforegreatly increase the risk of cardiovascular disease (CVD) and early death. It has long been known that atherosclerosis my begin early in life. READ MORE

7. 5. Hypothalamic and Metabolic Dysfunction in Genetic Models of Huntington’s Disease

   Author : Rana Soylu Kucharz; Translationell neuroendokrinologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington’s Disease; Huntingtin; Hypothalamus; Metabolism; Obesity; orexin; PVN; BAT; TH; neuroendocrinology;

   Abstract : Huntington’s disease (HD) is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene. HD is an inherited progressive neurodegenerative disorder manifested by the wide array of motor dysfunctions, as well as non-motor symptoms. READ MORE