2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly
Allington G, Mehta N, Dennis E, Mekbib K, Reeves B, Kiziltug E, Chen S, Zhao S, Duy P, Saleh M, Ang L, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton R, Alper S, McGee S, Jin S, Kahle K. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain 2024, 148: 1817-1828. PMID: 39680505, DOI: 10.1093/brain/awae395.Peer-Reviewed Original ResearchLIM interaction domainNeurodevelopmental disorder genesLIM homeodomain proteinsDe novo variantsIntegrative multiomic analysisRegulated assemblyTranscriptional regulationTranscriptional networksDisorder genesInteraction domainTranscriptional modulationTranscriptional programsMultiomics analysisLdb1Brain morphogenesisSignificant enrichmentDysmorphic featuresSignificance thresholdGenesCerebral ventriculomegalySMARCC1ARID1BCongenital hydrocephalusVariantsDevelopmental delay
2016
A Multi-step Transcriptional and Chromatin State Cascade Underlies Motor Neuron Programming from Embryonic Stem Cells
Velasco S, Ibrahim M, Kakumanu A, Garipler G, Aydin B, Al-Sayegh M, Hirsekorn A, Abdul-Rahman F, Satija R, Ohler U, Mahony S, Mazzoni E. A Multi-step Transcriptional and Chromatin State Cascade Underlies Motor Neuron Programming from Embryonic Stem Cells. Cell Stem Cell 2016, 20: 205-217.e8. PMID: 27939218, PMCID: PMC5291817, DOI: 10.1016/j.stem.2016.11.006.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCellular ReprogrammingChromatinDNAEmbryonic Stem CellsEnhancer Elements, GeneticGenetic LociMiceModels, BiologicalMotor NeuronsNucleotide MotifsPromoter Regions, GeneticProtein BindingSequence Analysis, RNASingle-Cell AnalysisTime FactorsTranscription FactorsTranscription, GeneticConceptsTranscription factorsGene expressionOverexpression of transcription factorsControl cell fateCell fate programsOnecut transcription factorsNeuronal programTF bindingChromatin stateRegulatory regionsCell fateRegulatory stepTranscriptional modulationNeuronal enhancersEmbryonic stem cellsCell differentiationChromatinGenesCell programBindingNgn2ExpressionCellsOnecutStem cells
2014
Endothelial estrogen receptor isoforms and cardiovascular disease
Kim KH, Young BD, Bender JR. Endothelial estrogen receptor isoforms and cardiovascular disease. Molecular And Cellular Endocrinology 2014, 389: 65-70. PMID: 24530925, PMCID: PMC4040324, DOI: 10.1016/j.mce.2014.02.001.BooksConceptsNitric oxideFull-length ERαPlasma membrane-associated estrogen receptorOvarian steroid hormonesMembrane-associated estrogen receptorsEstrogen receptor isoformsCardiovascular diseaseEstrogen receptorEndothelial responseRapid E2ER isoformsSteroid hormonesReceptor isoformsVascular cellsClinical contextFavorable effectTissue responseEndothelial signalingVascular systemERαER46Transcriptional modulationTransmembrane moleculesSignalingRapid endothelial responses
2007
Perspectives on mechanisms of gene regulation by 1,25-dihydroxyvitamin D3 and its receptor
Pike JW, Meyer MB, Watanuki M, Kim S, Zella LA, Fretz JA, Yamazaki M, Shevde NK. Perspectives on mechanisms of gene regulation by 1,25-dihydroxyvitamin D3 and its receptor. The Journal Of Steroid Biochemistry And Molecular Biology 2007, 103: 389-395. PMID: 17223545, PMCID: PMC1868541, DOI: 10.1016/j.jsbmb.2006.12.050.Peer-Reviewed Original ResearchConceptsTarget genesBasal transcriptional machineryChromatin immunoprecipitation techniqueVitamin D receptorKey target genesExpression of genesAltered gene expressionTranscriptional machineryVertebrate organismsGene regulationSystemic signalsTranscriptional modulationRegulatory regionsDNA sitesGene locusGene expressionPromoter regionEnhancer regionGenesImmunoprecipitation techniquesRegulatory capabilitiesMaintenance of calciumModular natureExpressionNew insights
2004
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1
Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.Peer-Reviewed Original ResearchConceptsDNA cross-linking agentsNucleotide excision repairDNA damage-induced mutationsTumor suppressor geneDamage-induced mutationsDrosophila homologGenomic integrityHuman meninMutant fliesBiochemical functionsTranscriptional modulationNuclear proteinsDrosophila modelProtein 50Novel memberExcision repairNull allelesMolecular mechanismsCancer genesHistone deacetylaseSuppressor geneHomozygous inactivationMnn1Normal fliesGenes
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