2023
Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan
Zhao M, Luo X, Zhao Q, Yang T, Zhang W, Chen Z, Zeng S, Chen W, Zhang H, Wang Q, Wang W, Zhang X, Zhong T. Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan. International Journal Of Pediatric Otorhinolaryngology 2023, 174: 111744. PMID: 37801830, DOI: 10.1016/j.ijporl.2023.111744.Peer-Reviewed Original ResearchConceptsMulti-center studyHearing screeningOtoacoustic emissionsGenetic screeningHereditary HLPrevalent variantCommon congenital disabilityGene mutationsAuditory brainstem responseCongenital HLConcurrent hearingRisk factorsBrainstem responseDetection rateHigh riskHigh incidenceIdentification of individualsEducational sequelaeGJB2 c.NeonatesSLC26A4 c.Gene variantsCongenital disabilitiesSerious burdenMolecular etiology
2020
Dysregulation of BRD4 Function Underlies the Functional Abnormalities of MeCP2 Mutant Neurons
Xiang Y, Tanaka Y, Patterson B, Hwang SM, Hysolli E, Cakir B, Kim KY, Wang W, Kang YJ, Clement EM, Zhong M, Lee SH, Cho YS, Patra P, Sullivan GJ, Weissman SM, Park IH. Dysregulation of BRD4 Function Underlies the Functional Abnormalities of MeCP2 Mutant Neurons. Molecular Cell 2020, 79: 84-98.e9. PMID: 32526163, PMCID: PMC7375197, DOI: 10.1016/j.molcel.2020.05.016.Peer-Reviewed Original ResearchConceptsMECP2 mutant neuronsEnhancer-promoter interactionsRett syndromeRTT-like phenotypesChromatin bindingMeCP2 functionMethyl-CpGAbnormal transcriptionRTT etiologyMutant neuronsBET inhibitorsPotential therapeutic opportunitiesMECP2 mutationsProtein 2Human brain organoidsFunctional phenotypeJQ1BRD4Therapeutic opportunitiesBrain organoidsFunction underliesMutationsPhenotypeHuman brain culturesCritical driver
2013
Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2)
Tanaka Y, Kim KY, Zhong M, Pan X, Weissman SM, Park IH. Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2). Human Molecular Genetics 2013, 23: 1045-1055. PMID: 24129406, PMCID: PMC3900111, DOI: 10.1093/hmg/ddt500.Peer-Reviewed Original ResearchConceptsPluripotent stem cellsMutant MECP2X chromosomeMethyl-CpGStem cellsGene expressionLong-range chromatin interactionsFundamental cellular physiologyRett syndromeMitochondrial membrane proteinInactive X chromosomeProtein 2Chromatin interactionsTranscriptional regulationTranscription regulatorsCellular physiologyTranscriptome analysisLoss of functionMembrane proteinsMeCP2 resultsDe novo mutationsRegulatory mechanismsMeCP2ChromosomesRTT patients