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Showing 1 to 10 of 10 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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Identifikation und Charakterisierung von Interaktionspartnern des Zystennierenproteins DZIP1L
Polycystic kidney diseases are the most common genetic disorders; the underlying pathomechanisms are incompletely understood so far. One of the involved in the formation of cystic kidneys genes is DZIP1L. DZIP1L has previously been identified in our group as a new gene for polycystic kidney disease …
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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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Mutationsanalyse der Exone 26 bis 52 des PKHD1-Gens bei der Autosomal Rezessiv erblichen Polyzystischen Nierenerkrankung (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is a severe inherited disorder with a proposed incidence of 1/20.000 live births. In 1994 the ARPKD gene was mapped to chromosome 6p21-cen. Two independent groups unraveled the PKHD1 gene in 2002. This study reports mutation screening by SSCP …
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PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of renal- and liver related morbidity and mortality in neonates and infants, occurring 1 in 20000-40000 live births. Principal histological manifestations involve the fusiform dilatation of renal collecting ducts and …
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Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common genetic disorders of the kidney in childhood. Beside cystic alterations of both kidneys, ARPKD is associated with cystic malformation of the bile ducts and congenital fibrosis of the liver. The clinical spectrum ranges …
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Identifizierung und Charakterisierung von Pkhd1, dem Maus-Ortholog des humanen ARPKD-Gens, sowie Erstellung und Analyse einer Pkhdl mutierten Maus
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder causing renal-related and liver-related morbidity and mortality in childhood, characterized by renal cysts, biliary dysgenesis and congenital hepatic fibrosis due to ductal plate malformation. With an estimated incidence …
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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 …