Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"hereditary hemochromatosis"”.
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Studies at the hemochromatosis (HFE) locus : gene conversions, haplotypes, and association analysis
… locus surrounding the gene responsible for hereditary hemochromatosis (HFE) to investigate the impact of meiotic recombination events upon haplotype structure in this region. First we identified crossover hotspots in order to define the boundaries of haplotype blocks in this locus. We then …
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The evolution, modifications and interactions of proteins and RNAs
… data of mRNAs and lncRNAs from mouse models of hereditary hemochromatosis, I investigated competing regulatory interactions between mRNA, lncRNA and miRNA. A mutual interaction network was created from the predicted miRNA interaction sites on mRNAs and lncRNAs to identify regulatory RNAs in the …
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Genobiography: The Beethoven Genome Project as a case study integrating genomics into historical biography
… in *PNPLA3*, and compound heterozygous for two hereditary hemochromatosis variants in *HFE*. In addition, metagenomic analyses and targeted capture revealed that Beethoven was infected with hepatitis B virus during at least the months leading to his final illness. The definite identification of …
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Hämochromatose assoziierte Mutationen bei Kranken und Gesunden
Ziel der Arbeit ist es, die Bedeutung der C282Y und H63D Mutation in der Pathogenese der hereditären Hämochromatose und ihre Verteilung, insbesondere in der Region Unterfranken darzustellen. Die oben genannten Mutationen des HFE-Gens beeinflussen den Transferrinrezeptor an der vasalen Seite der …
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Development and validation of quantitative methods for the analysis of clinical biomarkers of iron metabolism applying stable isotopes
… anemia) as well as iron overload (e.g. hereditary hemochromatosis). In 2001, a liver-synthesized peptide hormone called hepcidin-25, present in biological fluids in the ng ml-1 range, was discovered. Despite its present importance, there is currently a lack of analytical methodologies …