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Showing 1 to 5 of 5 for “"autosomal recessive polycystic kidney disease"”.
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
The main gene associated with 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 …
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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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An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia
… atresia is a common form of paediatric liver disease, with progressive, inflammatory obliteration of the biliary tree, leading to liver failure early in life. Mutations in PKHD1, encoding the ciliary protein fibrocystin, are associated with autosomal recessive polycystic kidney disease …
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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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Development of Therapies to Treat Polycystic Kidney Disease
Polycystic kidney diseases (PKD) are genetic disorders characterized by fluid filled cysts in the kidney tubules and liver bile ducts. There are two forms of PKD, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The focus of the studies …