2018
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus
Furey C, Antwi P, Duran D, Timberlake AT, Nelson-Williams C, Matouk CC, DiLuna ML, Günel M, Kahle KT. 9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. Molecular Case Studies 2018, 4: a003145. PMID: 29895553, PMCID: PMC6169828, DOI: 10.1101/mcs.a003145.Peer-Reviewed Original ResearchConceptsDiffuse villous hyperplasiaVillous hyperplasiaChoroid plexusSyndromic hydrocephalusCerebrospinal fluid homeostasisSurgical managementPathological featuresHigh prevalenceHydrocephalus treatmentHydrocephalusDVHCPFluid homeostasisCSF productionHyperplasiaPlexusChromosome 9pCritical genesHypersecretionPatientsPathogenesisPrevalenceDisease
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