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
1999
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
Pehlivan T, Pober B, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson D, Watson M, Hing A. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. American Journal Of Medical Genetics 1999, 83: 201-206. PMID: 10096597, DOI: 10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v.Peer-Reviewed Original ResearchConceptsCardiac transcription factor genesZinc finger transcription factorHuman chromosome armsTranscription factor genesFinger transcription factorCardiac gene expressionChromosome armsTranscription factorsFactor genesGene expressionGATA4 geneInterstitial deletionGATA-4GenesLociFISH analysisSitu hybridizationDeletionHaploinsufficiencySubmicroscopic deletionRecent studiesPhenotype of patientsCellsMonosomyNormal karyotype