2020
Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder
Long H, Osterwalder M, Welsh I, Hansen K, Davies J, Liu Y, Koska M, Adams A, Aho R, Arora N, Ikeda K, Williams R, Sauka-Spengler T, Porteus M, Mohun T, Dickel D, Swigut T, Hughes J, Higgs D, Visel A, Selleri L, Wysocka J. Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder. Cell Stem Cell 2020, 27: 765-783.e14. PMID: 32991838, PMCID: PMC7655526, DOI: 10.1016/j.stem.2020.09.001.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceClusters of enhancersNon-coding mutationsHuman craniofacial disordersRegulate SOX9 expressionLong-range enhancersCell differentiation modelCraniofacial disordersGene desertSOX9 geneMorphological variationGene expressionGenesSynergistic activitySOX9 expressionPhenotypic specificityProgenitor developmentRobin sequenceCongenital malformationsEnhanced activityMouse modelEnhanceropathiesExpressionRestricted windowExpression reduction
2008
Regulation of the Noradrenaline Neurotransmitter Phenotype by the Transcription Factor AP-2β*
Hong S, Lardaro T, Oh M, Huh Y, Ding Y, Kang U, Kirfel J, Buettner R, Kim K. Regulation of the Noradrenaline Neurotransmitter Phenotype by the Transcription Factor AP-2β*. Journal Of Biological Chemistry 2008, 283: 16860-16867. PMID: 18424435, PMCID: PMC2423267, DOI: 10.1074/jbc.m709106200.Peer-Reviewed Original ResearchConceptsAP-2betaNervous systemDopamine beta-hydroxylaseCentral nervous systemPeripheral nervous systemNA neuronsSympathetic developmentNeonatal lethalityNull miceLocus coeruleusNeurotransmitter phenotypeSympathetic gangliaPharmacological treatmentMouse embryosBeta-hydroxylaseAP-2NoradrenalineAP-2 factorsMiceNeuronal developmentPhenotypic specificityCell typesFamily transcription factorsDiverse tissuesTranscription factors
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