2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.Peer-Reviewed Original ResearchConceptsDevelopmental disabilitiesIntellectual disabilityPatient-derived fibroblastsMidbrain regionsBrain developmentDefective ciliogenesisCSF circulationDisabilityCSF flowAbnormal CSF flowNervous system developmentMutant tadpolesCiliated tissuesMultiple model systemsVariant functionPronephric ductUnrelated familiesCC2D1AExpression patternsCiliogenesisRenal dysplasiaLeft-right organizerFunctional analysisDisease mechanismsBrain
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