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 13 of 13 for “"PKHD1"”.
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PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD)
… adulthood. ARPKD is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, which is among the largest human genes known until today. This is the first study analysing mutations and the mutation detection rate in the PKHD1 gene of pediatric …
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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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Molekulare Charakterisierung des PKHD1-Gens und seines Proteins Polyductin bei autosomal rezessiver polyzystischer Nierenerkrankung
… to adulthood respectively. The ARPKD-gene, PKHD1, is located on chromosome 6p12 and the majority of the ARPKD-cases could be ascribed to mutations in this gene. The longest open reading frame comprises 66 exons and encodes a single-transmembrane-protein, called polyductin/ fibrocystin. A …
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Mutationsanalyse der Exone 26 bis 52 des PKHD1-Gens bei der Autosomal Rezessiv erblichen Polyzystischen Nierenerkrankung (ARPKD)
… 6p21-cen. Two independent groups unraveled the PKHD1 gene in 2002. This study reports mutation screening by SSCP analysis of the exons 26-52 of the longest continuous open reading frame of the PKHD1 gene in 90 ARPKD families. It identifies 11 different mutations, 9 of them have not been reported …
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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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Identifizierung und Charakterisierung von Pkhd1, dem Maus-Ortholog des humanen ARPKD-Gens, sowie Erstellung und Analyse einer Pkhdl mutierten Maus
… ARPKD is caused by mutations in a single gene (Pkhd1, polycystic kidney and hepatic disease 1) that is assembled in a complex pattern of alternative splice variants and has recently been identified. The murine Pkhd1 and its translation products have very similar properties to its human …
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Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung
… analysis. ARPKD is caused by mutations in the PKHD1 gene on chromosome 6p12 which extents over about 470 kb and includes at least 66 exons with a large number of alternatively spliced transcripts. The longest continuous open reading frame encodes a 4074 amino acid protein. In addition to the …
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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 …