Global ETD Search
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Showing 1 to 3 of 3 for “"XLH"”.
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Clinical Diagnosis, Genetic Background and Treatment of Vitamin-D Resistant Hypophosphatemic Ricket
X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 (FGF23). Excess FGF23 reduces renal phosphate …
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Functional Characterization of Serine Hydrolases Mediating Lipid Metabolism and Protein Depalmitoylation in Asexual Stage Plasmodium Falciparum
… Lipases (XLs), Exported Lipases Homolog (XLH) and Plasmodium falciparum prodrug activation and resistance esterase (PfPARE). We generated a series of knockout parasite lines on the AKU-010 targets and identified that red blood cell (RBC)-localized XL2 and cytosolic XLH4 contribute to most …
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Molecular Genetic Analysis of FGF23 Bioactivity in the Bone-Kidney Endocrine Axis
… (ADHR), X-linked hypophosphatemic rickets (XLH), and autosomal recessive hypophosphatemic rickets (ARHR). Fibroblast growth factor-23 (FGF23), identified as the causative gene in ADHR, is produced in bone and plays a central role in kidney phosphate regulation. Increased serum concentrations …