2018
Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ
Merrick D, Mistry K, Wu J, Gresko N, Baggs JE, Hogenesch JB, Sun Z, Caplan MJ. Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ. Human Molecular Genetics 2018, 28: 16-30. PMID: 30215740, PMCID: PMC6298236, DOI: 10.1093/hmg/ddy322.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBone DevelopmentCell DifferentiationE1A-Associated p300 ProteinGene Expression RegulationGenes, RegulatorHEK293 CellsHumansIntracellular Signaling Peptides and ProteinsKidneyModels, AnimalMorpholinosOsteoblastsOsteogenesisPolycystic Kidney, Autosomal DominantTrans-ActivatorsTranscription FactorsTranscriptional Coactivator with PDZ-Binding Motif ProteinsTRPP Cation ChannelsZebrafishZebrafish ProteinsConceptsC-terminal tailCurly tail phenotypePolycystin-1Tail phenotypeTranscriptional coactivator TAZMessenger RNARunx2 transcriptional activityBone developmentTranscription factor Runx2Co-regulatory proteinsPkd1 mutant miceEssential coactivatorTranscriptional pathwaysTranscriptional activityOsteoblast differentiationKey mechanistic linkTAZPhysiological functionsPKD1 geneMechanistic linkRunx2MorpholinoPhenotypeMutant miceAutosomal dominant polycystic kidney disease
2013
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6. American Journal Of Human Genetics 2013, 93: 336-345. PMID: 23891469, PMCID: PMC3738827, DOI: 10.1016/j.ajhg.2013.06.007.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutoantigensAxonemal DyneinsBiomarkersCell Cycle ProteinsCiliaCytoskeletal ProteinsExomeGene Expression RegulationHigh-Throughput Nucleotide SequencingHumansKartagener SyndromeMaleMicrotubule-Associated ProteinsMutationPedigreeProtein BindingProtein Structure, TertiaryProteinsRatsRespiratory SystemTumor Suppressor ProteinsXenopus laevisZebrafishConceptsCytoplasmic protein complexesMotile ciliary functionC-terminal domainWhole-exome resequencingProtein complexesHuman primary ciliary dyskinesiaZMYND10LRRC6Motile ciliaHigh-throughput mutation analysisOtolith defectsPrimary ciliary dyskinesiaCiliary functionMutationsCS domainBiallelic mutationsKnockdownCystic kidneysMutation analysisCiliaCiliary dyskinesiaSAS6ResequencingZebrafishCiliogenesis
2008
Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway
DiBella LM, Park A, Sun Z. Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. Human Molecular Genetics 2008, 18: 595-606. PMID: 19008302, PMCID: PMC2722215, DOI: 10.1093/hmg/ddn384.Peer-Reviewed Original ResearchConceptsKidney cyst formationTOR pathwayCiliary mutantsLeft-right asymmetry defectsVertebrate body planCell surface organellesMultiple signaling pathwaysElongation of ciliaLeft-right asymmetryMorpholino knockdownVertebrate cellsAsymmetry defectsBody planCiliary genesEnvironmental signalsCyst formationKnockdown animalsSensory organellesCilia functionSurface organellesCiliary signalsProtein productsSignaling pathwaysSame pathwayWnt pathway