Article
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization.
Molecular human reproduction - 1 Jun 2006
Ferlin A, Bogatcheva N V, Gianesello L, Pepe A, Vinanzi C, Agoulnik A I, Foresta C
Abstract excerpt
Insulin-like factor 3 (INSL3) plays a crucial role in testicular descent. Genetic ablation of Insl3 or its G protein-coupled receptor, leucine-rich repeat-containing G-protein-coupled receptor (Lgr8), causes cryptorchidism in mice. Mutation analyses of INSL3 in humans showed an association with cryptorchidism but led to non-conclusive data about a causative role. In this study, we explored the hypothesis that...
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