Sökning: "Gene variants"

Visar resultat 11 - 15 av 585 avhandlingar innehållade orden Gene variants.

1. 11. Gene conversion of the mouse MHC class II

   Författare :Kari Högstrand; Ulf Gyllensten; Stockholms universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MHC; H2; gene conversion; evolution; polymorphism; Immunology; Immunologi; immunologi; Immunology;

   Sammanfattning : The major histocompatibility complex (MHC) is the most polymorphic vertebrate gene loci known to exist. Gene products of the MHC are responsible for presentation of antigen derived peptides to T cells of the immune system, which thereby become activated and involved in the elimination of particles recognised as non-self. LÄS MER

3. 12. Adipose tissue gene expression & candidate genes for obesity

   Författare :Lovisa Johansson; Diabetes - klinisk obesitasforskning; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Insulin resistance; Obesity; Adipose tissue; Adiponutrin; PNPLA; PPARGC1A; Gene expression; Case-control association study; Microarray; Genotyping; Population-based study;

   Sammanfattning : Obesity results from an interaction between genetic and environmental factors and is a growing health problem associated with development of insulin resistance, type 2 diabetes and cardiovascular disease. This thesis has focused on investigating the genetic contribution in obesity and insulin resistance by both candidate and global gene approaches with focus on the adipose tissue. LÄS MER

4. 13. Genetic Variability in Human Bone Phenotypes : The Vitamin D Receptor Gene and the Estrogen Receptor-α Cofactor RIZ Gene

   Författare :Elin Grundberg; Andreas Kindmark; Östen Ljunggren; Helena Brändström; André G. Uitterlinden; Uppsala universitet; []
   Nyckelord :Medicine; Bone mineral density; candidate gene approach; polymorphism; the vitamin D receptor; the estrogen receptor α; RIZ1; cofactor; allelic imbalance; Medicin;

   Sammanfattning : Important candidate genes to human bone phenotypes are those involved in the regulation of hormonal action, such as the vitamin D receptor (VDR) and the estrogen receptor-α (ERα) genes and their cofactors. RIZ1 is a specific ERα cofactor proved to strongly enhance the function of the ERα. LÄS MER

5. 14. Genomic profiling and gene-gene interaction in rheumatoid arthritis

   Författare :Klementy Shchetynsky; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Complex disease is characterized by the interplay of multiple genetic and environmental factors. Rheumatoid arthritis (RA) is a complex autoimmune disease with a pronounced genetic component, mainly due to HLA-DRB1 gene, but also a multitude of loci outside the HLA region. LÄS MER

7. 15. Gene and pathway associations in neurodevelopmental disorders

   Författare :Mitra Etemadikhah; Lars Feuk; Kristiina Tammimies; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene expression analyses; Neurodevelopmental disorders; Intellectual disability; Schizophrenia;

   Sammanfattning : Neurodevelopmental disorders are complex and heterogenous disorders affecting brain development. In this thesis, we study intellectual disability (ID) and schizophrenia, and we applied genomic, transcriptomic, and proteomic techniques to identify and further investigate candidate variants and important genes and pathways involved in pathology of these two disorders. LÄS MER