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 ResearchMeSH KeywordsAnimalsBrainCerebrospinal FluidCiliaCiliopathiesFemaleFibroblastsHumansIntellectual DisabilityKidneyMaleMutationPedigreeXenopusConceptsDevelopmental 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
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus
Karimy JK, Zhang J, Kurland DB, Theriault BC, Duran D, Stokum JA, Furey CG, Zhou X, Mansuri MS, Montejo J, Vera A, DiLuna ML, Delpire E, Alper SL, Gunel M, Gerzanich V, Medzhitov R, Simard JM, Kahle KT. Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus. Nature Medicine 2017, 23: 997-1003. PMID: 28692063, DOI: 10.1038/nm.4361.Peer-Reviewed Original ResearchMeSH KeywordsAcetazolamideAnimalsAntioxidantsBlotting, WesternBumetanideCerebral HemorrhageCerebral VentriclesCerebrospinal FluidChoroid PlexusDiureticsGene Knockdown TechniquesGene Knockout TechniquesHydrocephalusImmunoblottingImmunohistochemistryImmunoprecipitationInflammationNF-kappa BProlineProtein Serine-Threonine KinasesRatsRats, WistarSalicylanilidesSolute Carrier Family 12, Member 2SulfonamidesThiocarbamatesToll-Like Receptor 4