Sökning: "promoter polymorphisms"

Visar resultat 21 - 25 av 81 avhandlingar innehållade orden promoter polymorphisms.

  1. 21. Positional identification and functional analysis of genes regulating autoimmune arthritis

    Författare :Anthony Chun Yeung Yau; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The major histocompatibility complex (MHC) is the most gene-dense and polymorphic region in the human genome with strong associations to many autoimmune disorders, including rheumatoid arthritis (RA). However, even the genetic association between MHC and RA was known more than 40 years ago, we still have not fully explained the functional roles of the MHC genes and identified the underlying specific polymorphisms. LÄS MER

  3. 22. Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors

    Författare :Cecilia De Bustos; Jan P. Dumanski; Joseph F. Costello; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; Genetics; Genetik;

    Sammanfattning : Genetic and epigenetic variation is a key determinant of human diversity and has an impact on disease predisposition. Single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) are the main forms of genetic variation. The challenge is to distinguish normal variations from disease-associated changes. LÄS MER

  4. 23. Genetic and epigenetic studies of diabetes and diabetic nephropathy with focus on the IGF-IGFBP axis

    Författare :Tianwei Gu; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Diabetes and diabetic nephropathy (DN) are complex diseases reflecting a complex interplay between genetic and non-genetic factors. The insulin-like growth factor (IGF) - IGF binding protein (IGFBP) axis plays an important role in the development of diabetes and DN. LÄS MER

  5. 24. Regulation of TNF-alpha : implications for health and disease

    Författare :Tiina Skoog; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Adhesion molecules; adipocyte; atherosclerosis; DNase I HS site; EMSA; IMT; polymorphism; TNF-alpha;

    Sammanfattning : Tumor necrosis factor-alpha (TNF-alpha) is a proinflammatory cytokine, which is implicated in some metabolic disorders and may play a role in the development of cardiovascular disease. When healthy 50-year-old men were studied, the plasma TNF-alpha concentration was associated with systolic and diastolic blood pressure, degree of alimentary lipaemia, plasma VLDL triglyceride and LDL cholesterol concentrations, peak LDL particle size and all measured cell adhesion molecules. LÄS MER

  7. 25. CTLA-4 expression, regulation and associations in autoimmune myasthenia gravis

    Författare :XiongBiao Wang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Cytotoxic-T-lymphocyte-associated antigen 4 CTLA-4 ; Myasthenia gravis MG ; Immune inhibitory receptor; Autoimmune disease; Genetic polymorphism.;

    Sammanfattning : Myasthenia gravis (MG) is a neuromuscular disease with muscle weakness due to an autoimmune attack against the nicotinic acetylcholine receptor (nAChR) on the skeletal muscle endplate. Cytotoxic-T-lymphocyte-associated antigen 4 (CTLA-4) plays a global inhibitory role in the immune system and has a crucial role in autoimmunity. LÄS MER