Article
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney international - 1 Apr 2009
Rossetti Sandro, Kubly Vickie J, Consugar Mark B, Hopp Katharina, Roy Sushmita, Horsley Sharon W, Chauveau Dominique, Rees Lesley, Barratt T Martin, van't Hoff William G, Niaudet Patrick, Niaudet W Patrick, Torres Vicente E, Harris Peter C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely diagnosed in utero with enlarged, echogenic kidneys. Somatic mutations are thought crucial for cyst development, but gene dosage is also important since animal models with hypomorphic alleles develop cysts, but are viable as homozygotes. We...
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