2025
Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling
Kim Y, Kim M, Kim S, Lee R, Ujihara Y, Marquez-Wilkins E, Jiang Y, Yang E, Kim H, Lee C, Park C, Kim I. Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling. Nature Communications 2025, 16: 1407. PMID: 39915488, PMCID: PMC11802743, DOI: 10.1038/s41467-025-56720-1.Peer-Reviewed Original ResearchConceptsBlood-brain barrierNeuronal excitabilityB-cateninBarrier functionMouse blood-brain barrierReduced neuronal excitabilityMale mutant miceBlood-brain barrier permeabilityBrain endothelial cellsAutism spectrum disorderNeonatal micePotential therapeutic targetASD risk genesMutant miceTight junctionsImpaired sociabilityPathogenic mechanismsBrain parenchymaEndothelial cellsTherapeutic targetASD pathogenesisSHANK3Adult ageDisabling conditionMice
2018
Systematic reconstruction of autism biology from massive genetic mutation profiles
Luo W, Zhang C, Jiang YH, Brouwer CR. Systematic reconstruction of autism biology from massive genetic mutation profiles. Science Advances 2018, 4: e1701799. PMID: 29651456, PMCID: PMC5895441, DOI: 10.1126/sciadv.1701799.Peer-Reviewed Original ResearchConceptsComplex genetic diseasesWhole-exome studiesHundreds of variantsGene functionNovel genesSubpathway levelGene groupsSame geneCanonical pathwaysPathway levelAutism-related mutationsSecond messenger systemsGenesGenetic diseasesASD biologyCAMP second messenger systemBiologyGenetic associationMutationsMultiple independent analysesMost variantsPathwayVariant levelsSynaptic functionGenetic mutation profiles
2016
The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling
Mansour M, Haupt S, Chan AL, Godde N, Rizzitelli A, Loi S, Caramia F, Deb S, Takano EA, Bishton M, Johnstone C, Monahan B, Levav-Cohen Y, Jiang YH, Yap AS, Fox S, Bernard O, Anderson R, Haupt Y. The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling. Cancer Research 2016, 76: 4236-4248. PMID: 27231202, DOI: 10.1158/0008-5472.can-15-1553.Peer-Reviewed Original ResearchConceptsBreast cancer patientsPoor prognosisCancer patientsBreast cancerBreast cancer-related deathsSuppresses breast cancer metastasisMetastatic breast cancerCancer-related deathBreast cancer metastasisBasal breast cancerBreast cancer invasivenessSteroid hormone receptorsMetastatic diseaseCurrent therapiesSecondary tumorsTherapeutic approachesTumor cell migrationCancer metastasisPatientsCancer invasivenessHormone receptorsMetastasisMajor causeHigh expressionE3 ubiquitin protein ligase
2015
Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links
Hulbert SW, Jiang Y. Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links. Neuroscience 2015, 321: 3-23. PMID: 26733386, PMCID: PMC4803542, DOI: 10.1016/j.neuroscience.2015.12.040.Peer-Reviewed Original Research
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