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
2010
Potentiation of Th17 cytokines in aging process contributes to the development of colitis
Ouyang X, Yang Z, Zhang R, Arnaboldi P, Lu G, Li Q, Wang W, Zhang B, Cui M, Zhang H, Liang-Chen J, Qin L, Zheng F, Huang B, Xiong H. Potentiation of Th17 cytokines in aging process contributes to the development of colitis. Cellular Immunology 2010, 266: 208-217. PMID: 21074754, PMCID: PMC3006034, DOI: 10.1016/j.cellimm.2010.10.007.Peer-Reviewed Original ResearchConceptsT cellsIL-17IL-22Aged miceTh17 cytokinesDendritic cellsYoung miceImmune responseAutoimmune/inflammatory diseasesDevelopment of colitisIL-17 productionMemory T cellsNaïve T cellsSevere colitisIL-17FInflammatory disordersInflammatory diseasesAged individualsMRNA expressionMiceColitisAged peopleSignificant differencesCytokinesHealthy ones