Global ETD Search
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Showing 1 to 8 of 8 for “"pseudoxanthoma elasticum"”.
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Die Untersuchung zellulärer inflammatorischer Prozesse bei Pseudoxanthoma elasticum
The autosomal-recessive disorder Pseudoxanthoma elasticum (PXE) is characterized by progressive calcification and fragmentation of elastic fibers. The cause of PXE are mutations in the gene ATP-binding cassette subfamily C member 6 (ABCC6), encoding ABCC6, an ATP-binding transport protein. Further …
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Novel clinical and etiopathogenetic findings in Pseudoxanthoma elasticum
… One of the archetypes of such disease is pseudoxanthoma elasticum or PXE, in which ectopic mineralization of elastic fibres causes skin, ocular and cardiovascular complications. Despite its identification more than two centuries ago, PXE has – as many genetic disorders – always been …
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Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen
Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of elastin with major manifestations in the cardiovascular system, skin and eyes. The disorder is heterogeneous, but the underlying genetic defects remain unresolved. The study was undertaken to evaluate the frequency, clinical …
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Untersuchungen zur Pathobiochemie der extrazellulären Matrix bei Pseudoxanthoma elasticum (PXE)
Pseudoxanthoma elasticum (PXE) is a rare inheritable disorder that is characterized by extensive remodelling of the extracellular matrix (ECM). PXE is caused by mutations in the ABCC6 gene. By now, no conclusive pathophysiological connection between ABCC6 and the clinical findings of the disease …
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Quantitative proteomics analysis in cultured skin fibroblasts from patients with rare genetic disorders
… Ullrich Congenital Muscular Dystrophy (UCMD) and Pseudoxanthoma Elasticum (PXE). The underlying gene defect in these disorders is known but the molecular mechanism leading to cell damage is not. In the study presented here, much work has been done in an effort to gain better insight into the …
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A novel approach to processing and visualizing mass spectrometry imaging data for a new perspective in untargeted analyses
… to compare metabolic similarities between Pseudoxanthoma Elasticum (PXE), a rare connective tissue disorder, and atherosclerosis, a chronic inflammatory disease. MSI data from PXE skin was processed using ProViM and visualized with QUIMBI. This approach revealed metabolic signals in PXE …
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Einfluss einer ABCC6-Defizienz auf die Remodellierung der extrazellulären Matrix in in vitro und ex vivo Gewebemodellen
… processes of the heterogeneous disease pseudoxanthoma elasticum (PXE) include changes in lipid homeostasis, remodeling of the extracellular matrix (ECM), ectopic calcification, and inflammation. Symptomatically, these are reflected peripherally in the dermis, retina, and vascular walls. …
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Genes: Multigene Families, Control of Gene Expression, Genetic contributions to Human Diseases, including Chromosomal Fragile Sites and ‘Dynamic’ and ‘Non-self’ Mutations
The early work in this thesis utilizes the general approach of comparative analysis. In order to find out the relationship between entities (either functional or genetic) my colleagues and I have attempted to identify the important elements by detecting similarity between those entities that act in …