2023
Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse
Li Y, Xu W, Makova S, Brueckner M, Sun Z. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. ELife 2023, 12: e82395. PMID: 36920028, PMCID: PMC10154023, DOI: 10.7554/elife.82395.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCadherinsCiliaCystsEpithelial CellsFibrosisKidney Diseases, CysticMiceMice, KnockoutPhenotypePolycystic Kidney DiseasesTranscription FactorsConceptsFlox/Valproic acidRenal fibrosisCyst formationEnd-stage renal diseaseMutant miceHistone deacetylase inhibitor valproic acidKidney function declineStage renal diseaseCell proliferationInhibitor valproic acidEpithelial-stromal crosstalkKnockout mouse modelRenal cyst formationCyst burdenRenal diseaseFunction declineInterstitial fibrosisDisease progressionStromal fibrosisTargeted therapyInfantile nephronophthisisMouse modelMyofibroblast activationRenal epithelial cells
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 ResearchMeSH KeywordsAnimalsCiliopathiesCystsDisease Models, AnimalDisease ProgressionHedgehog ProteinsKidney Diseases, CysticMiceMice, TransgenicConceptsHh 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
2016
Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts
Li Y, Tian X, Ma M, Jerman S, Kong S, Somlo S, Sun Z. Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts. Journal Of The American Society Of Nephrology 2016, 27: 3628-3638. PMID: 27153923, PMCID: PMC5118478, DOI: 10.1681/asn.2015091004.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleADP-Ribosylation FactorsAnimalsCerebellumEye AbnormalitiesGene DeletionHumansKidney Diseases, CysticMiceMutationRetinaZebrafishConceptsSevere patterning defectsMultiple model organismsSmall GTPase essentialDefective hedgehog signalingCystic kidneysNumber of phenotypesKidney cyst formationKidney cystsJoubert syndromeGTPase essentialZebrafish leadsPatterning defectsBiogenesis defectsModel organismsCilia biogenesisLoss of functionCyst progressionDefective ciliaHistone deacetylase inhibitorsHuman mutationsNull mutationHedgehog signalingHypomorphic natureRescue experimentsNeural tube
2013
Expanding Horizons: Ciliary Proteins Reach Beyond Cilia
Yuan S, Sun Z. Expanding Horizons: Ciliary Proteins Reach Beyond Cilia. Annual Review Of Genetics 2013, 47: 353-376. PMID: 24016188, PMCID: PMC5703194, DOI: 10.1146/annurev-genet-111212-133243.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAnimalsBardet-Biedl SyndromeCell MovementCerebellar DiseasesCerebellumCiliaCiliary Motility DisordersDisease Models, AnimalDNA DamageDNA RepairEncephaloceleEye AbnormalitiesFlagellaHeterotaxy SyndromeHomeostasisHumansKidney Diseases, CysticMolecular Motor ProteinsNervous SystemPolycystic Kidney DiseasesPolycystic Kidney, Autosomal DominantPolycystic Kidney, Autosomal RecessiveRetinaRetinitis Pigmentosa
2011
Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish
Li J, Sun Z. Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish. PLOS ONE 2011, 6: e27365. PMID: 22102889, PMCID: PMC3216947, DOI: 10.1371/journal.pone.0027365.Peer-Reviewed Original ResearchConceptsCilia assemblyIFT complex B proteinsKidney developmentForward genetic screenCoiled-coil domainEssential roleKidney cystsNormal kidney developmentGenetic screenMutant phenotypeVestigial organelleNovel genesPolycystic kidney diseaseCilia formationDeletion analysisB geneB proteinB mutantsGenetic analysisMeckel-Gruber syndromeN-terminusFunctional analysisRescue experimentsZebrafishHuman diseases
2009
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion
Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009, 136: 4033-4042. PMID: 19906870, PMCID: PMC2778746, DOI: 10.1242/dev.036350.Peer-Reviewed Original ResearchConceptsCilia formationVivo functionJoubert syndromeSeries of deletionsSonic hedgehog (Shh) signalingCilia localizationCiliary localizationNull mutantsPoint mutantsGene productsHedgehog signalingArl13bCiliary defectsMutantsKidney ductsZebrafishCiliaAutosomal recessive disorderAbnormal ultrastructureScorpionsRecessive disorderLocalizationRecent studiesKnockdownSignaling
2008
Cystic Kidney Gene seahorse Regulates Cilia-Mediated Processes and Wnt Pathways
Kishimoto N, Cao Y, Park A, Sun Z. Cystic Kidney Gene seahorse Regulates Cilia-Mediated Processes and Wnt Pathways. Developmental Cell 2008, 14: 954-961. PMID: 18539122, DOI: 10.1016/j.devcel.2008.03.010.Peer-Reviewed Original ResearchConceptsWnt pathwayCiliary signalsImportant sensory organelleKidney cyst formationNoncanonical Wnt pathwayCanonical Wnt pathwayLeft-right asymmetryCilia assemblySensory organellesCiliated tissuesCellular eventsCell typesSeahorsesCiliary functionPathwayCiliaCyst formationDishevelledInversinGastrulationVertebratesOrganellesTranscriptsProteinCascade