2014
IFT27, 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
2012
Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation
Yuan S, Li J, Diener DR, Choma MA, Rosenbaum JL, Sun Z. Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 2021-2026. PMID: 22308353, PMCID: PMC3277533, DOI: 10.1073/pnas.1112834109.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBody PatterningCiliaEvolution, MolecularGene Knockdown TechniquesGlycogen Synthase Kinase 3Glycogen Synthase Kinase 3 betaHumansMovementOrgan SizeProtein BiosynthesisRheologyRibosomal Protein S6 KinasesSignal TransductionTranscription FactorsTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsZebrafishZebrafish ProteinsConceptsCilia lengthRibosomal protein S6 kinase 1Protein S6 kinase 1Protein synthesisLeft-right body asymmetryProtein synthesis regulationS6 kinase 1Vertebrate developmentTOR pathwayCilium sizeZebrafish developmentCilia assemblyTreatment of embryosDownstream substratesCilia morphologyEnvironmental cuesSynthesis regulationFluid flow generationKinase 1Cellular antennaHuman disordersCilia motilityUpstream inhibitorProper functionCiliary function