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 12 of 12 for “"hemochromatosis"”.
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Studies at the hemochromatosis (HFE) locus : gene conversions, haplotypes, and association analysis
… 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 found that …
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Heterozygote Hämochromatose-Genmutationen als genetische Progressionsfaktoren bei chronischer Hepatitis C
… controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression. Therefore our aim was to assess associations between HFE mutations and hepatic inflammation and stage of fibrosis in German hepatitis C patients. Methods: Liver biopsies from 166 patients were …
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Epidemiological investigations of liver cancer: biomarkers, reproductive factors and modifiable risk factors:
… factors. <br/><br/>Excessive iron levels due to hemochromatosis have been shown to increase liver cancer risk. However, the association between elevated iron levels and liver cancer risk in people not predisposed to hemochromatosis has not been well studied. We conducted a systematic review and …
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The evolution, modifications and interactions of proteins and RNAs
… 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 disease. I …
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Genobiography: The Beethoven Genome Project as a case study integrating genomics into historical biography
… 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 heritable …
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Der Einfluss von Fatigue auf die Lebensqualität von Patienten mit Leberzirrhose
… Biliary Cirrhosis, 1 had Wilson disease, 2 had Hemochromatosis, 1 had Autoimmune hepatitis), 32 patients with inflammatory bowel diseases (Crohns disease or ulcerative colitis) for comparison with a non cirrhotic group of patients and 38 healthy controls were enrolled. Patients and controls …
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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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Design, synthesis and characterization of new iron and aluminium chelating agents
… on metal metabolism, such as beta-thalassemia, hemochromatosis (Fe), and neurodegenerative diseases (Cu, Fe, Zn and Al). The study of metal chelators for clinical applications, either as chelating therapeutics able to target specific metal ions in the body, or as metal-carriers for therapeutic …
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Low-dose imaging of liver diseases through neutron stimulated emission computed tomography: Simulations in GEANT4
… can localize and classify liver lesions of hemochromatosis, hepatocellular carcinoma, fatty liver tissue and cirrhotic liver tissue based on bulk and trace element concentrations. In a small patient with a torso major axis of 30 cm, the n-TRI based liver imaging technique can localize 91.67% …
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Untersuchungen zur immunologische Rolle von HFE, einem HLA Klasse I homologen Gen, das bei der hereditären Hämochromatose Punktmutationen zeigt
Das für das Krankheitsbild der hereditären Hämochromatose vom Typ 1 ursächliche Gen, <br>HFE, liegt telomerisch vom HLA-A-Lokus auf dem menschlichen Chromosom 6. Während <br>die Assoziation des HFE-Proteins mit dem Transferrinrezeptor die Grundlage für seine Rolle <br>im Eisenstoffwechsel bildet, …
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Development and validation of quantitative methods for the analysis of clinical biomarkers of iron metabolism applying stable isotopes
… 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 validated for …