Sökning: "Silencing"

Visar resultat 21 - 25 av 283 avhandlingar innehållade ordet Silencing.

  1. 21. 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. 22. 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. 23. Molecular and diagnostic aspects of the protein p41 of HHV-6 and silencing of the CD46 receptor by RNA interference

    Författare :Yunhe Xu; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Human herpesvirus 6; p41; multiple sclerosis; RNA interference; small interfering RNAs; CD46;

    Sammanfattning : Multiple sclerosis (MS) is one of the most common diseases of the central nervous system (CNS), leading to sensory and motor disability in young adults. There is no efficient treatment of the disease. Its etiology is unknown. LÄS MER

  5. 24. Epigenetic Regulation by Noncoding RNA

    Författare :Tanmoy Mondal; Chandrasekhar Kanduri; Jérôme Cavaillé; Uppsala universitet; []
    Nyckelord :Genomic Imprinting; Noncoding RNA; Epigenetics; DNA methylation; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Sammanfattning : High throughput transcriptomic analyses have realized us with the fact that eukaryotic genome encodes thousands of noncoding RNAs (ncRNAs) with unknown function. In my thesis, I sought to address epigenetic regulation of transcription by ncRNA using the Kcnq1 imprinted cluster as a model system. LÄS MER

  7. 25. Long Noncoding RNA Mediated Regulation of Imprinted Genes

    Författare :Faizaan Mohammad; Chandrasekhar Kanduri; Kristian Helin; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genomic imprinting; noncoding RNA; epigenetics; chromatin; DNA methylation; Developmental biology; Utvecklingsbiologi; Molecular biology; Molekylärbiologi; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Sammanfattning : Genomic imprinting is an epigenetic phenomenon that causes a subset of mammalian genes to be expressed from only one allele in a parent-of-origin manner. The defects in the imprinting regulation result in disorders that affect development, growth and metabolism. LÄS MER