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
2015
Comparing Mycobacterium tuberculosis genomes using genome topology networks
Jiang J, Gu J, Zhang L, Zhang C, Deng X, Dou T, Zhao G, Zhou Y. Comparing Mycobacterium tuberculosis genomes using genome topology networks. BMC Genomics 2015, 16: 85. PMID: 25766780, PMCID: PMC4342819, DOI: 10.1186/s12864-015-1259-0.Peer-Reviewed Original ResearchConceptsGenomic structural variationWhole genome-based phylogenetic analysisGenome-based phylogenetic analysisPhylogenetic analysisM. tuberculosis genomeGene gain/lossTuberculosis genomeComplete gene annotationStructural variationsComparative genomic analysisGene family membersInvestigation of genesRelated bacterial strainsBacterial strainsResistance-related genesGenome topologyGene duplicationGene annotationGenome rearrangementsClosest speciesPhylogenetic studiesPhylogenetic treeGene locationGene homologyGenomic analysis
2011
Hox genes from the parasitic flatworm Schistosoma japonicum
Gu J, Chen S, Dou T, Xu M, Xu J, Zhang L, Hu W, Wang S, Zhou Y. Hox genes from the parasitic flatworm Schistosoma japonicum. Genomics 2011, 99: 59-65. PMID: 22100282, DOI: 10.1016/j.ygeno.2011.10.008.Peer-Reviewed Original ResearchConceptsHox gene familyHox genesGene familyFirst genome-wide characterizationGenome-wide characterizationEvolutionary developmental biologyComparative genomic analysisReal-time polymerase chain reaction experimentsGene copy numberPolymerase chain reaction experimentsOrthology groupsAxis patterningGenome assemblyDevelopmental biologyRelated speciesPhylogenetic analysisGenomic analysisGene expressionSchistosomulum stagePeptide domainGenesCopy numberAnimal speciesHigh expressionSchistosoma japonicum