Search for dissertations about: "regulatory SNP"

Showing result 11 - 15 of 38 swedish dissertations containing the words regulatory SNP.

  2. 11. Using systems genetics to explore the complexity of leaf shape variation in Populus tremula

    Author : Barbara Terebieniec; Nathaniel Street; Chung-Jui Tsai; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Populus; Arabidopsis; systems biology; systems genetics; spatial transcriptomics ST ; single nucleotide polymorphism SNP ; Genome wide associations study GWAS ; expression GWAS eGWAS ; molekylärbiologi; Molecular Biology;

    Abstract : Leaves are essential for sustaining humanity as they function as the energy and oxygen-producing organ of plants. Intensive research on physiological processes has contributed immensely to our understanding of the function of leaves. However, comparatively little is known about how leaf size and shape is determined. READ MORE

  4. 12. Regulation and polymorphism of CYP2A6, CYP2B6 and CYP2E1 : functional and clinical aspects

    Author : Jue Wang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Cytochrome P450; CYP2A6; CYP2B6; CYP2El; gene regulation; polymorphism; SNP; genotyping; IL4; signaling pathway;

    Abstract : Cytochrome P450s constitute a superfamily of heme-binding monooxygenases that play important roles in the metabolism of endogenous substrates and a wide variety of exogenous substances, such as toxins and drugs, and participate as well in the biosynthesis of steroids, fatty acids, vitamins and bile acids. The P450s genes are subjects for large inter-individual variability in expression, which subsequently cause inter-individual differences in drug metabolism. READ MORE

  5. 13. Estrogen and liver X receptors in human disease

    Author : Maria Nilsson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Estrogen Receptor; Liver X Receptor; polymorphism; Bulimia Nervosa; SNP; BMI; obesity; expression levels; T2D.;

    Abstract : The nuclear hormone receptors (NRs) are a class of transcription factors that has attracted great interest due to their important roles in animal physiology and metabolism. Studies of knockout (KO) mouse models have indicated several pathophysiological conditions in which the NRs are involved. READ MORE

  6. 14. Functional analysis of genetic variants in putative low penetrate breast cancer genes

    Author : Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

    Abstract : Paper I & II: CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). READ MORE

  7. 15. Identification of the susceptibility genes in type 1 diabetes and diabetic nephropathy

    Author : Jun Ma; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Type 1 Diabetes; Diabetic Nephropathy; Genetic Association; Single Nucleotide Polymorphism;

    Abstract : Genetic susceptibility plays an important role in the pathogenesis of type 1 diabetes (T1D) and diabetic nephropathy (DN). The present study aims to investigate the association between single nucleotide polymorphisms (SNPs) in candidate genes and DN. READ MORE