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 ResearchConceptsSevere 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
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