ArticleAmerican journal of human genetics2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
127 citing papers in PubMed, 1 synthesis or guideline pooled it, 205 citations in OpenAlex.
- Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- In situ structure of the human ciliary transition zone links linker defects to primary ciliary dyskinesia.Science (New York, N.Y.) · 2026Article
- Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia.European journal of human genetics : EJHG · 2026Article
- mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo.American journal of respiratory cell and molecular biology · 2026Article
- Cerebrospinal fluid-driven ependymal motile cilia defects are implicated in multiple sclerosis.Brain : a journal of neurology · 2026Article
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Preclinical human models of primary ciliary dyskinesia.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- [Report of 24 cases of primary ciliary dyskinesia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Investigating the impact of poly(beta amino) ester-mediated FOXJ1 mRNA delivery on differentiation of primary human bronchial epithelial cells.Biology open · 2026Article
- Article
- The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.medRxiv : the preprint server for health sciences · 2026Article
- Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.Nature communications · 2026Article
- A High-Resolution Subcellular Map of Proteins in Cells with Motile Cilia.Journal of proteome research · 2026Article
- De NovoHuman mutation · 2026Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- Cerebrospinal fluid mechanics across CNS barriers: from production, circulation, and clearance to mechanomedicine.Frontiers in neuroscience · 2026Review
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
67 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors at 13 institutions in 3 countries.
Funding
Abstract
Hydrocephalus is one of the most prevalent form of developmental central nervous system (CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body movement. Furthermore, it has been shown that CSF flow within and across brain ventricles depends on cilia motility of the ependymal cells lining the brain ventricles, which play a crucial role to maintain patency of the narrow sites of CSF passage during brain formation in mice. Using whole-exome and whole-genome sequencing, we identified an autosomal-dominant cause of a distinct motile ciliopathy related to defective ciliogenesis of the ependymal cilia in six individuals. Heterozygous de novo mutations in FOXJ1, which encodes a well-known member of the forkhead transcription factors important for ciliogenesis of motile cilia, cause a motile ciliopathy that is characterized by hydrocephalus internus, chronic destructive airway disease, and randomization of left/right body asymmetry. Mutant respiratory epithelial cells are unable to generate a fluid flow and exhibit a reduced number of cilia per cell, as documented by high-speed video microscopy (HVMA), transmission electron microscopy (TEM), and immunofluorescence analysis (IF). TEM and IF demonstrate mislocalized basal bodies. In line with this finding, the focal adhesion protein PTK2 displays aberrant localization in the cytoplasm of the mutant respiratory epithelial cells.
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