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 “"Pkhd1"”.
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
… Recessive Polycystic Kidney Disease (ARPKD) is PKHD1 which encodes a ciliary protein associated with planar cell polarity. In mice, mutations in the transcription factor Atmin can present with an ARPKD-like phenotype with kidney disease similar to an early manifestation of ARPKD. Like the mouse …
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An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia
… to liver failure early in life. Mutations in PKHD1, encoding the ciliary protein fibrocystin, are associated with autosomal recessive polycystic kidney disease (ARPKD), a ciliopathy with clinical features that resemble biliary atresia. The hepatic developmental defects detectable in a …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
… 30 – 50% of affected neonates. Mutations in PKHD1 and DZIP1L have been identified as causative genes for ARPKD, with the protein products of both genes localising to the primary cilium. Ciliary signalling pathways, such as Wnt signalling, have been investigated to dissect potential molecular …
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Investigating WNT signalling in the lung
… worldwide. It is caused by a mutation in PKHD1, the gene encoding the protein Fibrocystin (FPC). The primary pathophysiology of ARPKD has been characterized by cystic kidney disease, liver fibrosis, and lung failure. The most severe cases of ARPKD have been observed in neonatal life, with …
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Sumo and Ubiquitin Ligases Regulate Hepatocyte Nuclear Factor - 1 Beta Transcriptional Activity
… or PIASgamma inhibited the activity of the Pkhd1 promoter, a known HNF-1β target. Expression of catalytically inactive Ubc9 or PIASgamma mutants also inhibited Pkhd1 promoter activity, suggesting that repression of HNF-1β transcriptional activity is SUMOylation-independent. In contrast to …
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Genetic studies of cardiometabolic traits
… I identified a novel BMI-associated locus at PKHD1, and found evidence of association at several loci that had only been discovered using large cohorts with >40,000 individuals demonstrating the power gains in studying clinical extreme phenotypes. In chapter 3, I coupled high-resolution …