2024
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease
Zhang C, Rehman M, Tian X, Pei S, Gu J, Bell T, Dong K, Tham M, Cai Y, Wei Z, Behrens F, Jetten A, Zhao H, Lek M, Somlo S. Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature Communications 2024, 15: 3698. PMID: 38693102, PMCID: PMC11063051, DOI: 10.1038/s41467-024-48025-6.Peer-Reviewed Original ResearchConceptsMouse models of autosomal dominant polycystic kidney diseaseModel of autosomal dominant polycystic kidney diseasePolycystin signalingAutosomal dominant polycystic kidney diseasePolycystin-1Polycystic kidney diseaseTreat autosomal dominant polycystic kidney diseaseGlis2Primary ciliaKidney tubule cellsSignaling pathwayMouse modelDominant polycystic kidney diseasePotential therapeutic targetTranslatomeAntisense oligonucleotidesKidney diseasePolycystinMouse kidneyFunctional effectorsCyst formationTherapeutic targetInactivationFunctional targetPharmacological targets
2000
Cardiac defects and renal failure in mice with targeted mutations in Pkd2
Wu G, Markowitz G, Li L, D'Agati V, Factor S, Geng L, Tibara S, Tuchman J, Cai Y, Hoon Park J, van Adelsberg J, Hou H, Kucherlapati R, Edelmann W, Somlo S. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genetics 2000, 24: 75-78. PMID: 10615132, DOI: 10.1038/71724.Peer-Reviewed Original ResearchConceptsPolycystin-2True null mutationEmbryonic day 13.5Liver cyst formationSomatic rearrangementsNull mutationNull allelesProtein productsUnstable alleleTargeted mutationsPKD2Cardiac septationCyst formationRenal failureDay 13.5MutationsADPKD phenotypeKidney cystsAllelesLong-term survivalFirst indicationDeleterious effectsCalcium channelsMouse modelClinical manifestations