2022
SEMA7AR148W mutation promotes lipid accumulation and NAFLD progression via increased localization on the hepatocyte surface
Zhao N, Zhang X, Ding J, Pan Q, Zheng MH, Liu WY, Luo G, Qu J, Li M, Li L, Cheng Y, Peng Y, Xie Q, Wei Q, Li Q, Zou L, Ouyang X, Cai SY, Boyer JL, Chai J. SEMA7AR148W mutation promotes lipid accumulation and NAFLD progression via increased localization on the hepatocyte surface. JCI Insight 2022, 7: e154113. PMID: 35938531, PMCID: PMC9462498, DOI: 10.1172/jci.insight.154113.Peer-Reviewed Original ResearchConceptsIntegrin β1Lipid accumulationPrimary mouse hepatocytesProtein interactionsLipid droplet accumulationMouse liverFatty acid oxidationHeterozygous mutationsIntegrin β1 proteinPKC-α phosphorylationFA uptakeGenetic determinantsMouse peritoneal macrophagesCell membraneStrong genetic determinantsMutationsMouse hepatocytesDroplet accumulationΒ1 proteinCD36 expressionAcid oxidationPKCTriglyceride synthesisGenetic polymorphismsAccumulation
2015
Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome
Chen L, Chen B, Leng W, Lui X, Wu Q, Ouyang X, Liang Z. Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome. Journal Of International Medical Research 2015, 43: 718-724. PMID: 26268891, DOI: 10.1177/0300060515591065.Peer-Reviewed Original ResearchConceptsHDR syndromeUrea nitrogen levelsNovel de novo mutationRenal dysplasia (HDR) syndromeHaploinsufficiency of GATA3Serum creatinineIntracranial calcificationsLimb twitchesGATA3 mutationsSensorineural deafnessDysplasia syndromeDe novo mutationsSyndromeGATA3 genePatientsPremature stop codonNovo mutationsDeafnessFurther evidenceFrameshift mutationExon 2MutationsHyperphosphataemiaHypoparathyroidismProteinuria
2009
AP-1 Activated by Toll-like Receptors Regulates Expression of IL-23 p19*
Liu W, Ouyang X, Yang J, Liu J, Li Q, Gu Y, Fukata M, Lin T, He JC, Abreu M, Unkeless JC, Mayer L, Xiong H. AP-1 Activated by Toll-like Receptors Regulates Expression of IL-23 p19*. Journal Of Biological Chemistry 2009, 284: 24006-24016. PMID: 19592489, PMCID: PMC2781995, DOI: 10.1074/jbc.m109.025528.Peer-Reviewed Original ResearchMeSH KeywordsActivating Transcription Factor 2AnimalsAutoimmune DiseasesCell LineDendritic CellsGene Expression RegulationInterleukin-10Interleukin-23 Subunit p19LipopolysaccharidesMacrophages, PeritonealMAP Kinase Signaling SystemMiceMice, KnockoutMitogen-Activated Protein Kinase KinasesMutationMyeloid Differentiation Factor 88NF-kappa BProto-Oncogene Proteins c-junResponse ElementsToll-Like Receptor 4Transcription Factor AP-1ConceptsIL-23 p19Toll-like receptorsP19 expressionIL-10-deficient miceNF-kappaBMyD88-dependent Toll-like receptorIL-23 expressionRecombinant IL-10IL-12 familyC-JunWild-type miceAP-1 siteC-Fos bindsAP-1Promoter activationIL-23IL-10Dendritic cellsMyD88 pathwayAutoimmune diseasesImmune responseInflammatory signalsType miceLipopolysaccharide (LPS) stimulationNF-kappaB.