ArticleCell reports2021
Multi-omic analysis elucidates the genetic basis of hydrocephalus.
Article in Cell reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Multi-omics and high-spatial-resolution omics: deciphering complexity in neurological disorders.GigaScience · 2025Pooled it
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- Diagnostic Value of Choroid Plexus-to-Lateral Ventricle Volume Ratio (CLVVR) in First-Trimester Screening (11-13⁺International journal of general medicine · 2026Article
- Integrative genomics elucidates the evolutionary, temporal, and developmental origins of a hydrocephalus risk gene.medRxiv : the preprint server for health sciences · 2025Article
- The Collapse of Brain Clearance: Glymphatic-Venous Failure, Aquaporin-4 Breakdown, and AI-Empowered Precision Neurotherapeutics in Intracranial Hypertension.International journal of molecular sciences · 2025Review
- Molecular hallmarks of hydrocephalus.Science translational medicine · 2025Review
- Cranial Ultrasound in the Management of Hydrocephalus in Newborns: A Case Series.Children (Basel, Switzerland) · 2025Article
- Research priorities for improving cognitive and neuropsychological outcomes in hydrocephalus.Fluids and barriers of the CNS · 2024Review
- TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.Brain : a journal of neurology · 2024Article
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
- Brain development and bioenergetic changes.Neurobiology of disease · 2024Review
- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Military Medical Research · 2024Review
- The subcommissural organ regulates brain development via secreted peptides.Nature neuroscience · 2024Article
- Paediatric hydrocephalus.Nature reviews. Disease primers · 2024Review
- The subcommissural organ regulates brain development via secreted peptides.bioRxiv : the preprint server for biology · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- "Floppy brain" in congenital hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- A neural stem cell paradigm of pediatric hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Consideration of Kinase Inhibitors for the Treatment of Hydrocephalus.International journal of molecular sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p < 0.05) with hydrocephalus. PrediXcan analysis of brain imaging and genomics data in the independent UK Biobank (N = 8,428) revealed that MAEL expression in the frontal cortex is associated with white matter and total brain volumes. Among the top differentially expressed genes in brain, we observed a significant enrichment for gene-level associations with these structural phenotypes, suggesting an effect on disease risk through regulation of brain structure and integrity. We found additional support for these genes through analysis of the choroid plexus transcriptome of a murine model of hydrocephalus. Finally, differential protein expression analysis in patient cerebrospinal fluid recapitulated disease-associated expression changes in neurological tissues, but not in whole blood. Our findings provide convergent evidence highlighting the importance of tissue-specific pathways and mechanisms in the pathophysiology of hydrocephalus.
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What OpenQuestion holds
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.