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- W2038576364 abstract "Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic potentially lethal human disorder and the polycystic kidney disease 1 (Pkd1) gene is accounted for 85-90% of these cases. We have obtained rat Pkdl cDNA sequence and characterized splicing of Pkdl RNA transcripts in normal rat tissues. Our sequence data revealed a high conservation of the Pkdl gene between rat and other species and mapped rat Pkdl to chromosome 10 in tail-to-tail orientation to the tuberous sclerosis 2 (Tsc2) gene. Pkdl was found ubiquitously expressed in the normal rat tissues and the brain had a complex pattern of exon 12 splicing. A novel splicing variant lacking entire exon 31, which occurs in rat and mouse but not in humans, was also identified. As the rat appears to be a valuable model for investigating polycystic kidney disease, the characterization of the rat Pkdl gene will help facilitate future studies to elucidate the molecular mechanisms of cystogenesis in this animal model." @default.
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- W2038576364 date "2001-01-01" @default.
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- W2038576364 title "Tissue-specific Expression and Splicing of the Rat Polycystic Kidney Disease 1 Gene" @default.
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- W2038576364 doi "https://doi.org/10.3109/10425170109084460" @default.
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