Endothelial Cilia Are Essential for Developmental Vascular Integrity in Zebrafish
Kallakuri S, Yu JA, Li J, Li Y, Weinstein BM, Nicoli S, Sun Z. Endothelial Cilia Are Essential for Developmental Vascular Integrity in Zebrafish. Journal Of The American Society Of Nephrology 2014, 26: 864-875. PMID: 25214579, PMCID: PMC4378100, DOI: 10.1681/asn.2013121314.Peer-Reviewed Original ResearchConceptsIntraflagellar transport genesTransport genesModel organism zebrafishChemical genetic toolsKidney disease genesEndothelial ciliaInvolvement of ciliaVascular integrityInhibition of HedgehogHemorrhage phenotypeCilia biogenesisVertebrate cellsCiliary mutantsZebrafish vasculatureGenetic toolsRespective mutantsDisease genesEndothelial cellsNovel roleInactivating mutationGenesCiliaEssential roleZebrafishMutantsIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome
Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa S, Xiong Y, Kong S, Sun Z, Alkuraya FS. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome. Human Molecular Genetics 2014, 23: 3307-3315. PMID: 24488770, PMCID: PMC4047285, DOI: 10.1093/hmg/ddu044.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsBardet-Biedl SyndromeConsanguinityEvolution, MolecularExomeFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleModels, MolecularMonomeric GTP-Binding ProteinsPedigreePoint MutationSaudi ArabiaSequence AlignmentZebrafishConceptsBardet-Biedl syndromeBBS genesNovel BBS geneIntraflagellar transport genesAutosomal recessive ciliopathyIFT particlesProtein complexesTransport genesMembrane proteinsFunctional validationGenetic complexityRecessive ciliopathyHuman geneticsGenesIFT27Genetic heterogeneityConsanguineous familyBBS casesBBSomeZebrafishCiliopathiesGeneticsProteinCiliaFirst time