Search for dissertations about: "Allele-specific expression"
Showing result 1 - 5 of 43 swedish dissertations containing the words Allele-specific expression.
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1. Gene Expression in Cancer Cells : Detection of Splice Variants, Allele-specific Expression and DNA Methylation
Abstract : The human genome sequencing project has provided a wealth of information on sequence variation between individuals. The surprisingly low number of genes in the human genome is compensated for by a complex regulation of gene expression. READ MORE
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2. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy
Abstract : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. READ MORE
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3. Gene Expression and DNA Methylation in Acute Lymphoblastic Leukemia
Abstract : Pediatric acute lymphoblastic leukemia (ALL) is the most common malignancy in children, which results from the malignant transformation of progenitor cells in the bone marrow into leukemic cells. The precise mechanisms for this transformation are not well defined, however recent studies suggest that aberrant regulation of gene expression or DNA methylation may play an important role. READ MORE
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4. Gene regulatory evolution in flycatchers: statistical approaches for the analysis of allele-specific expression
Abstract : Understanding the molecular mechanisms underlying evolutionary changes in gene expression is a major research topic in biology. While a powerful approach to study this is the analysis of allele-specific expression (ASE), most of previously published methods can only be applied to lab organisms. READ MORE
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5. Genetic and Genomic Analysis of DNA Sequence Variation
Abstract : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. READ MORE