ArticleExperimental neurology2020
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways.
Article in Experimental neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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
15 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical and genetic spectrum of CASK-related disorders in Chinese patients.Journal of neurology · 2026Article
- CASK promotes non-small cell lung cancer growth through coordinated regulation of EGFR expression, trafficking, and p21 expression.Journal of biomedical science · 2026Article
- CASK hypomorph mice display cone photoreceptor dysfunction.bioRxiv : the preprint server for biology · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.Journal of medical genetics · 2024Article
- HeterozygousHeliyon · 2024Article
- Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.Neural development · 2023Article
- Genetic and Epigenetic Sexual Dimorphism of Brain Cells during Aging.Brain sciences · 2023Review
- Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.Molecular genetics & genomic medicine · 2022Article
- Article
- A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Italian journal of pediatrics · 2022Article
- The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model.Cells · 2022Review
- Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three GenesBioMed research international · 2022Article
- Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.Molecular genetics & genomic medicine · 2020Article
- Presynaptic dysfunction in CASK-related neurodevelopmental disorders.Translational psychiatry · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Heterozygous mutations in the X-linked gene CASK are associated with intellectual disability, microcephaly, pontocerebellar hypoplasia, optic nerve hypoplasia and partially penetrant seizures in girls. The Cask
Indexed as
Identifiers
What Socratic 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 Socratic graph.