Article
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia
16 Sept 2011
Abstract excerpt
Bicaudal C homologue 1 (Bicc1) knockout in mice causes polycystic kidney disease and pancreas development defects, including a reduction in insulin-producing β-cells and ensuing diabetes. We therefore screened 137 patients with renal abnormalities or association of early-onset diabetes and renal disease for genetic alterations in BICC1. We identified two heterozygous mutations, one nonsense in the first K...
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