Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS. Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. PLOS Genetics 2018, 14: e1007817. PMID: 30475797, PMCID: PMC6307780, DOI: 10.1371/journal.pgen.1007817.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAnimals, Genetically ModifiedBase SequenceChildCiliaConsanguinityEpendymaFemaleGene ExpressionHomozygoteHumansHydrocephalusIntellectual DisabilityKinesinsMaleMiceMice, TransgenicModels, AnimalMutationNeurodevelopmental DisordersPedigreeSequence DeletionTissue DistributionXenopus laevisZebrafishConceptsVentricular systemMulti-ciliated cellsNeurological developmentEpendymal cellsHuman neurological developmentKinesin family member 6C-terminal truncating mutationsMember 6 geneEpendymal cell ciliaTransgenic mouse strainCerebrospinal fluid flowMutant mice displayFamily member 6Homozygous null mutationMice displaySpecific roleMutant miceMouse strainsNeurodevelopmental defectsTruncating mutationsMember 6Multiciliated tissuesIntellectual disabilityBase pair deletionMice
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