Ontology highlight
ABSTRACT:
SUBMITTER: Tran PV
PROVIDER: S-EPMC4178433 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Tran Pamela V PV Talbott George C GC Turbe-Doan Annick A Jacobs Damon T DT Schonfeld Michael P MP Silva Luciane M LM Chatterjee Anindita A Prysak Mary M Allard Bailey A BA Beier David R DR
Journal of the American Society of Nephrology : JASN 20140403 10
Renal cystic diseases are a leading cause of renal failure. Mutations associated with renal cystic diseases reside in genes encoding proteins that localize to primary cilia. These cystoproteins can disrupt ciliary structure or cilia-mediated signaling, although molecular mechanisms connecting cilia function to renal cystogenesis remain unclear. The ciliary gene, Thm1(Ttc21b), negatively regulates Hedgehog signaling and is most commonly mutated in ciliopathies. We report that loss of murine Thm1 ...[more]