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 “"ARPKD"”.
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
… Autosomal 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 …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that manifests with bilaterally enlarged, cystic kidneys, hepatic fibrosis and pulmonary hypoplasia, with death reported in around 30 – 50% of affected neonates. Mutations in PKHD1 and DZIP1L have been identified as …
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Investigating WNT signalling in the lung
Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary condition that has been reported to affect approximately one in every 20,000 newborns worldwide. It is caused by a mutation in PKHD1, the gene encoding the protein Fibrocystin (FPC). The primary pathophysiology of ARPKD has …
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An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia
… autosomal recessive polycystic kidney disease (ARPKD), a ciliopathy with clinical features that resemble biliary atresia. The hepatic developmental defects detectable in a significant number of infants with ARPKD are thought to be caused by dysfunction in the structure and function of primary …
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Exom-Sequenzierung bei unklarer chronischer Niereninsuffizienz anhand definierter renaler Biopsiemerkmale
… Nephropathien assoziiert sind (NPHP-RC, ARPKD, ADTKD). Im weiteren Verlauf inkludierten wir Gene für glomeruläre Nephropathien (FSGS und COL4-Nephropathie/Alport-Syndrom) und kongenitale Nierenanomalien (CAKUT). Die dabei detektierten genetischen Varianten wurden auf mögliche Pathogenität …
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Development of Therapies to Treat Polycystic Kidney Disease
… autosomal recessive polycystic kidney disease (ARPKD). The focus of the studies in this thesis has been on ADPKD. The disease progresses slowly and the fluid-filled cysts grow in size due to increased rates of cell proliferation and fluid secretion into the cyst lumen. The expanding cysts …