Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

Cerebrospinal fluid flow is crucial for neurodevelopment and homeostasis of the ventricular system of the brain, with localized flow being established by the polarized beating of the ependymal cell (EC) cilia. Here, we report a homozygous one base-pair deletion, c.1193delT (p.Leu398Glnfs*2), in the...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Konjikusic, Mia J., Yeetong, Patra, Boswell, Curtis W., Lee, Chanjae, Roberson, Elle C., Ittiwut, Rungnapa, Suphapeetiporn, Kanya, Ciruna, Brian, Gurnett, Christina A., Wallingford, John B., Shotelersuk, Vorasuk, Gray, Ryan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307780/
https://ncbi.nlm.nih.gov/pubmed/30475797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007817
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