2019
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Jiang J, Huang J, Gu J, Cai X, Zhao H, Lu H. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. BMC Medical Genomics 2019, 20: 204. PMID: 31888525, PMCID: PMC6938020, DOI: 10.1186/s12881-019-0935-3.Peer-Reviewed Original ResearchConceptsSMA casesHeterozygous mutationsInternational SMA ConsortiumBackgroundSpinal muscular atrophyDifferent clinical typesRare neuromuscular disorderCopies of SMN2Compound heterozygous mutationsWhole-exome sequencingSeverity of SMAGenomic analysisFemale patientsMale patientsClinical typesCase reportAccurate counselingRare caseMouse modelDiagnostic criteriaMuscular functionPatientsGrowth differentiation factor 8Neuromuscular disordersSMA patientsMuscular atrophy
2016
Regulation of CBL and ESR1 expression by microRNA-22-3p, 513a-5p and 625-5p may impact the pathogenesis of dust mite-induced pediatric asthma
Dong X, Xu M, Ren Z, Gu J, Lu M, Lu Q, Zhong N. Regulation of CBL and ESR1 expression by microRNA-22-3p, 513a-5p and 625-5p may impact the pathogenesis of dust mite-induced pediatric asthma. International Journal Of Molecular Medicine 2016, 38: 446-456. PMID: 27277384, PMCID: PMC4935459, DOI: 10.3892/ijmm.2016.2634.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAsthmaCase-Control StudiesChildCytokinesDemographyDown-RegulationErbB ReceptorsEstrogen Receptor alphaFemaleGene Expression ProfilingGene Expression RegulationGene Regulatory NetworksHumansInflammation MediatorsMaleMicroRNAsNF-kappa BPhosphatidylinositol 3-KinasesProto-Oncogene MasProto-Oncogene Proteins c-aktProto-Oncogene Proteins c-cblPyroglyphidaeReal-Time Polymerase Chain ReactionRNA, MessengerSyk KinaseUp-RegulationConceptsPediatric asthmaPlasma concentrationsGender-matched healthy controlsCbl proto-oncogeneMite-induced asthmaPeroxisome proliferator-activated receptorInflammatory cytokine pathwaysMicroRNA-22-3pTumor necrosis factorProliferator-activated receptorEnzyme-linked immunosorbentRegulation of CblMiR-22-3pAsthma groupIL-10Asthma attacksHealthy controlsCytokine pathwaysNecrosis factorEstrogen receptorImmune responseESR1 expressionAsthmaControl groupInvolvement of microRNAs