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Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus.

Cellular and molecular neurobiology - 1 Nov 2023

Hou Connie C, Li Danielle, Berry Bethany C, Zheng Shaokuan, Carroll Rona S, Johnson Mark D, Yang Hong Wei

Abstract excerpt

Heterozygous mutations affecting FOXJ1, a transcription factor governing multiciliated cell development, have been associated with obstructive hydrocephalus in humans. However, factors that disrupt multiciliated ependymal cell function often cause communicating hydrocephalus, raising questions about whether FOXJ1 mutations cause hydrocephalus primarily by blocking cerebrospinal fluid (CSF) flow or by different...

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PMID: 37620636
DOI: 10.1007/s10571-023-01398-6
PMCID: PMC10661798

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