ArticleCellular and molecular neurobiology2023
Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus.
Article in Cellular and molecular neurobiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.Movement disorders : official journal of the Movement Disorder Society · 2025Pooled it
- Arrested hydrocephalus and beyond: advances in the pathophysiology, diagnosis, and management of various forms of chronic hydrocephalus: a comprehensive narrative review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- Regulation of Choroid Plexus Bicarbonate Transporters Following Intraventricular Hemorrhage in Mice.Cell biochemistry and function · 2026Article
- MMSpa is a deep learning-based tool that enhances the identification of spatial domains in spatial transcriptomics studies.PLoS biology · 2026Article
- Diversity, Functional Complexity, and Translational Potential of Glial Cells in the Central Nervous System.International journal of molecular sciences · 2025Review
- Ependymal and neural stem cells are close relatives.Stem cell reports · 2025Review
- Expression of α-smooth muscle actin in the lateral ventricle wall of spontaneous hydrocephalus animals.The Journal of veterinary medical science · 2025Article
- Molecular hallmarks of hydrocephalus.Science translational medicine · 2025Review
- Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.BMC genomics · 2025Article
- Multiciliated ependymal cells: an update on biology and pathology in the adult brain.Acta neuropathologica · 2024Review
- Single-cell RNA sequencing reveals special basal cells and fibroblasts in idiopathic pulmonary fibrosis.Scientific reports · 2024Article
- Rho-Associated Protein Kinase Activity Is Required for Tissue Homeostasis in theJournal of developmental biology · 2024Article
- Genetic and molecular mechanisms of hydrocephalus.Frontiers in molecular neuroscience · 2024Review
- Formation and function of multiciliated cells.The Journal of cell biology · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
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 mechanisms. Here, we show that heterozygous FOXJ1 mutations are also associated with communicating hydrocephalus in humans and cause communicating hydrocephalus in mice. Disruption of one Foxj1 allele in mice leads to incomplete ependymal cell differentiation and communicating hydrocephalus. Mature ependymal cell number and motile cilia number are decreased, and 12% of motile cilia display abnormal axonemes. We observed decreased microtubule attachment to basal bodies, random localization and orientation of basal body patches, loss of planar cell polarity, and a disruption of unidirectional CSF flow. Thus, heterozygous FOXJ1 mutations impair ventricular multiciliated cell differentiation, thereby causing communicating hydrocephalus. CSF flow obstruction may develop secondarily in some patients harboring FOXJ1 mutations. Heterozygous FOXJ1 mutations impair motile cilia structure and basal body alignment, thereby disrupting CSF flow dynamics and causing communicating hydrocephalus.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.