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- W2323803380 abstract "Recent developments have helped elucidate the function of the autosomal dominant polycystic kidney disease proteins, polycystin-1 and polycystin-2, and have revealed the primary defect in autosomal recessive polycystic kidney disease, by positional cloning of the gene, PKHD1. Several studies demonstrating that polycystin-2 can act as a calcium-ion-permeable cation channel, and that polycystin-1 may be involved in regulating/localizing this channel, have provided compelling evidence of the function of these proteins. A role in regulating intracellular calcium levels seems likely, with the many cellular abnormalities associated with cystogenesis due to a disruption of calcium homeostasis. Improved mutation analysis in autosomal dominant polycystic kidney disease has led to the finding of genotype/phenotype correlations which could be related to possible cleavage of polycystin-1. A major recent breakthrough has revealed the primary defect in autosomal recessive polycystic kidney disease. Genetic analysis showed that the PCK rat model is orthologous to autosomal recessive polycystic kidney disease, and allowed the human gene, PKHD1, to be precisely localized and identified. PKHD1 is a large gene, encoding a protein, fibrocystin, of 4074 amino acids, which is predicted to have a large extracellular region, a single transmembrane domain and a short cytoplasmic tail. Fibrocystin may act as a receptor with critical roles in collecting-duct and biliary development." @default.
- W2323803380 created "2016-06-24" @default.
- W2323803380 creator A5002238355 @default.
- W2323803380 date "2002-05-01" @default.
- W2323803380 modified "2023-10-10" @default.
- W2323803380 title "Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1" @default.
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- W2323803380 doi "https://doi.org/10.1097/00041552-200205000-00007" @default.
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