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
Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography
Gamm UA, Huang BK, Mis EK, Khokha MK, Choma MA. Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography. Scientific Reports 2017, 7: 15115. PMID: 29118359, PMCID: PMC5678121, DOI: 10.1038/s41598-017-14670-9.Peer-Reviewed Original ResearchConceptsOptical coherence tomographyCiliated epitheliumCoherence tomographyType of injuryExtent of injuryQuantification of injuryVariance optical coherence tomographyRespiratory infectionsDiffuse injuryFocal injuryImportant defense mechanismMouse tracheaInjuryMucociliary flowEpitheliumRegeneration of ciliaTomographyMultiple factorsDefense mechanismsQuantitative flowLungInfectionTracheaDisease