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
2019
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus
Date P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E. Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. Scientific Reports 2019, 9: 6196. PMID: 30996265, PMCID: PMC6470164, DOI: 10.1038/s41598-019-42549-4.Peer-Reviewed Original ResearchConceptsCSF flow dynamicsCongenital hydrocephalusOptical coherence tomographyCH pathophysiologyVentricular systemCoherence tomographyBrain developmentCurrent treatment modalitiesHuman congenital hydrocephalusCerebrospinal fluid flowAqueductal stenosisCerebral ventricleNeurosurgical indicationsTreatment modalitiesSurgery techniquesBrain ventriclesEpendymal ciliaCSF flowCiliary dysfunctionHuman L1CAMHydrocephalus pathogenesisVivo investigationsHydrocephalusPathophysiologyVentricle