2022
Non-cell-autonomous activation of hedgehog signaling contributes to disease progression in a mouse model of renal cystic ciliopathy
Hsieh CL, Jerman SJ, Sun Z. Non-cell-autonomous activation of hedgehog signaling contributes to disease progression in a mouse model of renal cystic ciliopathy. Human Molecular Genetics 2022, 31: 4228-4240. PMID: 35904445, PMCID: PMC9759329, DOI: 10.1093/hmg/ddac175.Peer-Reviewed Original ResearchConceptsHh pathwayAutonomous activationMesenchymal cellsPolycystic kidney diseaseEpithelial cellsCre miceGli inhibitor GANT61Reporter mouse linePrimary ciliaHH signalingHedgehog signalingPKD pathogenesisArl13bSonic hedgehogMutant kidneysPKD modelPKD progressionHh activationKidney functionKidney diseaseCyst progressionCo-culture systemMouse linesMouse modelDistal nephron
2013
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy
Paavola J, Schliffke S, Rossetti S, Kuo I, Yuan S, Sun Z, Harris PC, Torres VE, Ehrlich BE. Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. Journal Of Molecular And Cellular Cardiology 2013, 58: 199-208. PMID: 23376035, PMCID: PMC3636149, DOI: 10.1016/j.yjmcc.2013.01.015.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseHeart failureCalcium cyclingCardiac functionProteins polycystin-1Low cardiac outputHuman autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseImpaired calcium cyclingIntracellular calcium cyclingCause of mortalityIntracellular calcium signalingPolycystic kidney diseasePolycystin-2Intracellular calcium channelsAtrioventricular blockCardiac outputKidney diseaseADPKD patientsCardiovascular diseaseRenal epithelial cellsCalcium channelsDilated CardiomyopathyPKD2 mutationsEpithelial cells