Article
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
Human genetics - 1 Nov 2012
Chatterjee Rajshekhar, Ramos Enrique, Hoffman Mary, VanWinkle Jessica, Martin Daniel R, Davis Thomas K, Hoshi Masato, Hmiel Stanley P, Beck Anne, Hruska Keith, Coplen Doug, Liapis Helen, Mitra Robi, Druley Todd, Austin Paul, Jain Sanjay
Abstract excerpt
Signaling by the glial cell line-derived neurotrophic factor (GDNF)-RET receptor tyrosine kinase and SPRY1, a RET repressor, is essential for early urinary tract development. Individual or a combination of GDNF, RET and SPRY1 mutant alleles in mice cause renal malformations reminiscent of congenital anomalies of the kidney or urinary tract (CAKUT) in humans and distinct from renal agenesis phenotype in complete...
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