ReviewFluids and barriers of the CNS2024
The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.
Review in Fluids and barriers of the CNS, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Decoding the CSF Proteomic Signature of Idiopathic Normal Pressure Hydrocephalus: A Systematic Review.Molecules (Basel, Switzerland) · 2026Pooled it
- Endoscopic third ventriculostomy for diencephalosynapsis-related hydrocephalus in MPDZ gene syndrome: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- Hydrocephalus-associated persistent pain: a preclinical investigation correlating brain fluid imbalance and sensory alterations.Fluids and barriers of the CNS · 2026Article
- Comprehensive review of the cerebral aqueduct: anatomy, embryology, imaging, genetics, molecular, and pathology.Anatomy & cell biology · 2026Review
- De NovoHuman mutation · 2026Article
- Incidental Isolated Bilateral Clavicular Agenesis Discovered During Preoperative Hernia Assessment of a 78-Year-Old Male in Rural Uganda: A Case Report.International medical case reports journal · 2026Article
- Translational role of molecular biomarkers in developing targeted therapies for central nervous system tumors.IBRO neuroscience reports · 2025Review
- The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications.Physiological reviews · 2025Review
- Integrative genomics elucidates the evolutionary, temporal, and developmental origins of a hydrocephalus risk gene.medRxiv : the preprint server for health sciences · 2025Article
- α-catenin phosphorylation is actomyosin-sensitive and required for epithelial barrier functions through Afadin.bioRxiv : the preprint server for biology · 2025Article
- Article
- Genetic etiology of ventriculomegaly in 73 fetuses identified by High-Throughput sequencing.Scientific reports · 2025Article
- Molecular hallmarks of hydrocephalus.Science translational medicine · 2025Review
- Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate.Radiology case reports · 2025Article
- Cranial Ultrasound in the Management of Hydrocephalus in Newborns: A Case Series.Children (Basel, Switzerland) · 2025Article
- Increased plugging latency in cycling epiERα -/- (Esr1 f/- Wnt7a Cre/+ ) mice.Reproduction (Cambridge, England) · 2025Article
- Genetic signatures of responsiveness in idiopathic normal pressure Hydrocephalus: Insights from whole-exome and LASSO-based analysis.Brain & spine · 2025Article
- Ventricular volume adjustment of brain regions depicts brain changes associated with HIV infection and aging better than intracranial volume adjustment.Frontiers in neurology · 2025Article
- Progressive Optic Neuropathy in Hydrocephalic Ccdc13 Mutant Mice Caused by Impaired Axoplasmic Transport at the Optic Nerve Head.Investigative ophthalmology & visual science · 2024Article
- Molecular signatures of normal pressure hydrocephalus: a large-scale proteomic analysis of cerebrospinal fluid.Fluids and barriers of the CNS · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 9 institutions in 3 countries.
Funding
Abstract
Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.) that can present across the age spectrum, highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the genetic architecture and molecular pathogenesis of HC. Without this knowledge, the development of preventive, diagnostic, and therapeutic measures is impeded. However, the genetics of HC is extraordinarily complex, based on studies of varying size, scope, and rigor. This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in humans.
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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.