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
2016
Age-related changes in binding of the D2/3 receptor radioligand [11C](+)PHNO in healthy volunteers
Matuskey D, Worhunksy P, Correa E, Pittman B, Gallezot JD, Nabulsi N, Ropchan J, Sreeram V, Gudepu R, Gaiser E, Cosgrove K, Ding YS, Potenza MN, Huang Y, Malison RT, Carson RE. Age-related changes in binding of the D2/3 receptor radioligand [11C](+)PHNO in healthy volunteers. NeuroImage 2016, 130: 241-247. PMID: 26876475, PMCID: PMC4808424, DOI: 10.1016/j.neuroimage.2016.02.002.Peer-Reviewed Original ResearchConceptsPositron emission tomographyReceptor availabilitySN/VTADopamine systemMidbrain regionsSubstantia nigra/ventral tegmental areaHealthy control subjectsWhole-brain voxel-wise analysisVentral tegmental areaPrevious imaging studiesVoxel-wise analysisAge-associated declineAge-related changesAntagonist radiotracersExtrastriatal areasReference tissue modelAgonist radiotracerAge-related declineControl subjectsTegmental areaHealthy subjectsHealthy volunteersPositive correlationReceptor radioligandSecondary analysis
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