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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Bibliographic Details
Main Authors:	Mia J Konjikusic, Patra Yeetong, Curtis W Boswell, Chanjae Lee, Elle C Roberson, Rungnapa Ittiwut, Kanya Suphapeetiporn, Brian Ciruna, Christina A Gurnett, John B Wallingford, Vorasuk Shotelersuk, Ryan S Gray
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2018-11-01
Series:	PLoS Genetics
Online Access:	https://doi.org/10.1371/journal.pgen.1007817

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https://doi.org/10.1371/journal.pgen.1007817

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

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