2020
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal Of Medical Genetics 2020, 58: 453-464. PMID: 32631816, PMCID: PMC7785698, DOI: 10.1136/jmedgenet-2019-106805.Peer-Reviewed Original ResearchConceptsLoss of ciliaPatient tissuesPatient variantsCongenital heart diseaseMultiple organ systemsMultiple congenital anomaliesDLG5 variantsVariety of pathologiesNephrotic syndromeHeart diseaseCongenital anomaliesRespiratory tractKidney tissueOrgan systemsCystic kidneysPatient phenotypesKidneyDiseaseLimb abnormalitiesUnrelated familiesRescue experimentsCraniofacial malformationsCilia dysfunctionTissue-specific manifestationsTissue
2017
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography
Deniz E, Jonas S, Hooper M, N. Griffin J, Choma MA, Khokha MK. Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography. Scientific Reports 2017, 7: 42506. PMID: 28195132, PMCID: PMC5307353, DOI: 10.1038/srep42506.Peer-Reviewed Original ResearchConceptsCandidate genesFrog Xenopus tropicalisHuman congenital heart diseaseMost candidate genesNumerous candidate genesHuman genomic studiesXenopus tropicalisGenomic studiesXenopus heartGenetic mechanismsSequence variationFunctional analysisHuman phenotypesMolecular mechanismsHuman diseasesGenesCraniofacial defectsDisease mechanismsCraniofacial malformationsCritical first stepBirth defectsXenopusEfficient animal modelMechanismPhenocopies