2023
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.Peer-Reviewed Original Research
2019
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 14049-14054. PMID: 31235600, PMCID: PMC6628794, DOI: 10.1073/pnas.1808341116.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCell ProliferationChromatin Assembly and DisassemblyCiliaDisease Models, AnimalEpigenesis, GeneticGene Expression Regulation, NeoplasticHeartHeart Defects, CongenitalHistonesHumansLoss of Function MutationMiceRegulatory Factor X Transcription FactorsSignal TransductionUbiquitinationUbiquitin-Conjugating EnzymesUbiquitin-Protein LigasesXenopusConceptsHistone H2B monoubiquitinationCilia genesH2B monoubiquitinationCilia motilityFunctional gene ontologyHuman congenital heart diseaseUpstream transcriptional regulatorsTissue-specific expressionChromatin remodeling genesChromatin remodelingEpigenetic controlH2Bub1 levelsTranscriptional regulatorsChIP-seqDepletion phenotypeGene OntologyGenomic analysisTranscription factorsKnockdown resultsLeft-right asymmetryCilia functionHeart developmentH2Bub1RNF20Complex consisting
2015
The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry
Endicott SJ, Basu B, Khokha M, Brueckner M. The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry. Development 2015, 142: 4068-4079. PMID: 26493400, PMCID: PMC4712839, DOI: 10.1242/dev.126953.Peer-Reviewed Original ResearchAnimalsBody PatterningCentriolesCiliaGene Expression Regulation, DevelopmentalGene Knockdown TechniquesHistone Deacetylase 6Histone DeacetylasesHomeodomain ProteinsHumansIntercellular Signaling Peptides and ProteinsMiceMicroscopy, FluorescenceMutationNIMA-Related KinasesNuclear Pore Complex ProteinsProtein Serine-Threonine KinasesRNA InterferenceSignal TransductionTranscription FactorsXenopusXenopus Proteins
2002
Conserved function for embryonic nodal cilia
Essner JJ, Vogan KJ, Wagner MK, Tabin CJ, Yost HJ, Brueckner M. Conserved function for embryonic nodal cilia. Nature 2002, 418: 37-38. PMID: 12097899, DOI: 10.1038/418037a.Peer-Reviewed Original ResearchConceptsVertebrate body plan
1993
Left, right and without a cue
Howrich A, Brueckner M. Left, right and without a cue. Nature Genetics 1993, 5: 321-322. PMID: 8298636, DOI: 10.1038/ng1293-321.Peer-Reviewed Original Research