2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1
Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genetics In Medicine 2016, 18: 1044-1051. PMID: 26820066, PMCID: PMC4965339, DOI: 10.1038/gim.2015.205.Peer-Reviewed Original ResearchConceptsLeber congenital amaurosisLCA genesRescue experimentsEarly-onset formPhotoreceptor cell deathWhole-exome sequencingDysfunctional photoreceptorsRetinal disease genesCause of diseaseSystemic abnormalitiesLCA cohortMouse retinaRetinal degenerationHypomorphic mutationsCongenital amaurosisLCA patientsCilia-associated genesPhotoreceptor functionProband's mutationCell deathDiseaseProbandsSingle probandHuman diseasesCilia function
2004
Genomic Analysis of Mouse Retinal Development
Blackshaw S, Harpavat S, Trimarchi J, Cai L, Huang H, Kuo W, Weber G, Lee K, Fraioli R, Cho S, Yung R, Asch E, Ohno-Machado L, Wong W, Cepko C. Genomic Analysis of Mouse Retinal Development. PLOS Biology 2004, 2: e247. PMID: 15226823, PMCID: PMC439783, DOI: 10.1371/journal.pbio.0020247.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBromodeoxyuridineCell LineageChromosome MappingCluster AnalysisComputational BiologyDatabases, GeneticExpressed Sequence TagsGene Expression RegulationGene Expression Regulation, DevelopmentalGene LibraryGenomeIn Situ HybridizationInterneuronsMiceMitosisMolecular Sequence DataNeurogliaOpen Reading FramesRetinaRNA, MessengerStem CellsTime FactorsConceptsMitotic progenitor cellsRetinal cell typesGene expressionCell typesExpression patternsRetinal developmentDevelopmental gene expression patternsGene expression patternsMajor retinal cell typesOpen reading frameProgenitor cellsMüller gliaPhotoreceptor-enriched genesGene expression profilesMouse retinal developmentMajor cell typesRetinal disease genesGenomic analysisMultiple retinal cell typesChromosomal intervalMolecular atlasMultiple transcriptsReading frameTaxonomic classificationDisease genes
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