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
2011
Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish
Li J, Sun Z. Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish. PLOS ONE 2011, 6: e27365. PMID: 22102889, PMCID: PMC3216947, DOI: 10.1371/journal.pone.0027365.Peer-Reviewed Original ResearchConceptsCilia assemblyIFT complex B proteinsKidney developmentForward genetic screenCoiled-coil domainEssential roleKidney cystsNormal kidney developmentGenetic screenMutant phenotypeVestigial organelleNovel genesPolycystic kidney diseaseCilia formationDeletion analysisB geneB proteinB mutantsGenetic analysisMeckel-Gruber syndromeN-terminusFunctional analysisRescue experimentsZebrafishHuman diseases