DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling. American Journal Of Human Genetics 2014, 96: 81-92. PMID: 25557784, PMCID: PMC4289677, DOI: 10.1016/j.ajhg.2014.12.002.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsBeta CateninCiliaComputational BiologyDishevelled ProteinsExonsHEK293 CellsHumansKidneyKidney Diseases, CysticMiceMicroscopy, Electron, TransmissionMicrotubule-Associated ProteinsMutationNIH 3T3 CellsPhenotypePhosphoproteinsWnt Signaling PathwayZebrafishConceptsNPHP-RCWnt inhibitorsΒ-catenin-dependent WntMitotic spindle fibersImportance of WntCiliary axonemeHuman mutationsRenal tubulogenesisWntCiliopathiesSpindle fibersCiliogenesisMutationsDCDC2Dependent mannerKnockdownCentral roleRecessive diseaseInhibitorsMutantsDCDC2 mutationsTubulogenesisAxonemePhenotypeDvl