Sökning: "Allele-specific silencing"

Hittade 5 avhandlingar innehållade orden Allele-specific silencing.

  1. 1. Osteogenesis Imperfecta : Genetic and Therapeutic Studies

    Författare :Katarina Lindahl; Östen Ljunggren; Andreas Kindmark; Carl-Johan Rubin; David Sillence; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; OI; BMD; Genotype; Phenotype; Pharmaco-genetics; Bisphosphonate; Therapy; Gene-therapy; Mutation; Collagen; Collagen type I; Allele-specific silencing; siRNA; RNAi; COL1A1; COL1A2; Stroke; C-propeptide; Mineralization; Heterozygous disadvantage; Genetics; Genetik; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. LÄS MER

  3. 2. Cis-regulatory variation and divergence in Capsella

    Författare :Kim A. Steige; Tanja Slotte; Jeff J. Doyle; Uppsala universitet; []
    Nyckelord :Capsella; Shepherd s Purse; cis-regulatory changes; allele-specific expression; mating system shift; floral evolution; polyploidy; positive selection; purifying selection; transposable elements; small RNA; methylation; transposable element silencing; distribution of fitness effects;

    Sammanfattning : Cis-regulatory changes in e.g. promoters or enhancers that affect the expression of a linked focal gene have long been thought to be important for adaptation. In this thesis, I investigate the selective importance and genomic correlates of cis-regulatory variation and divergence in the genus Capsella, using massively parallel sequencing data. LÄS MER

  4. 3. Gene silencing and expression during mammalian development : The special case of the imprinted H19 gene

    Författare :Kristian Svensson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biology; Biologi; Biology; Biologi; zoologisk utvecklingsbiologi; Animal Development;

    Sammanfattning : Embryonic development consists of a vast number of fine-tuned, complex processesthat organise the body plan and individual organs. To enable developmental decisions,genes pivotal for normal development must be stably activated and silenced, asappropriate. LÄS MER

  5. 4. Epigenic regulation and posttranslational modification of human cytochrome P450s : focus on CYP2W1, CYP1A2 and CYP2C18

    Författare :Alvin V Gomez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The cytochrome P450 superfamily represents a very important group of enzymes that are responsible for the metabolism of drugs as well as of endogenous compounds. Many P450s are genetically polymorphic causing important interindividual variability in P450 expression and activity whereas in some cases the basis for interindividual variation has still not been resolved. LÄS MER

  7. 5. Epigenetic mechanisms and regulatory aspects of human cancer and neural progenitor cells : implications for diagnosis and therapy

    Författare :Monira Akhtar; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Epigenetic is defined as heritable modification or properties of the functional genome that are not directly embedded in the DNA sequence. Epigenetic changes include DNA methylation, histone modifications and RNA-mediated gene silencing. LÄS MER