Abstract
Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epithelial cell growth control, fluid transport, and morphogenesis. The mechanisms that connect the underlying genetic defects to disease pathogenesis are poorly understood, but their exploration is shedding new light on interesting cell biological processes and suggesting novel therapeutic targets.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, U.S. Gov't, Non-P.H.S.
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Review
MeSH terms
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Animals
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GTP-Binding Proteins / metabolism
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Humans
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Kidney / pathology
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Kidney / physiopathology
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Models, Molecular
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Polycystic Kidney, Autosomal Dominant / genetics*
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Polycystic Kidney, Autosomal Dominant / pathology
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Polycystic Kidney, Autosomal Dominant / physiopathology*
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Signal Transduction / physiology
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TRPP Cation Channels / chemistry
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TRPP Cation Channels / genetics
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TRPP Cation Channels / metabolism
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Wnt Proteins / metabolism
Substances
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TRPP Cation Channels
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Wnt Proteins
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polycystic kidney disease 1 protein
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polycystic kidney disease 2 protein
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GTP-Binding Proteins