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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307780/
https://www.ncbi.nlm.nih.gov/pubmed/30475797
http://dx.doi.org/10.1371/journal.pgen.1007817

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307780/
https://www.ncbi.nlm.nih.gov/pubmed/30475797
http://dx.doi.org/10.1371/journal.pgen.1007817

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