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Showing 1 to 20 of 20 for “"ARPKD"”.
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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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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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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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Molekulare Charakterisierung des PKHD1-Gens und seines Proteins Polyductin bei autosomal rezessiver polyzystischer Nierenerkrankung
… and survival 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/ …
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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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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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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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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 …
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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 …