ArticleGenome research2019
Coexpression patterns define epigenetic regulators associated with neurological dysfunction.
Article in Genome research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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
37 citing papers in PubMed, 58 citations in OpenAlex.
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- HDAC inhibition reprograms stem cell fate to suppress infantile hemangioma vasculogenesis.Angiogenesis · 2026Article
- CASER: A semi-supervised model with multi-omics data integration prioritizes cancer-associated epigenetic regulator genes.PLoS computational biology · 2026Article
- Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.Clinical genetics · 2026Article
- Reducing methylation of histone 3.3 lysine 4 in the medial ganglionic eminence and hypothalamus recapitulates neurodevelopmental disorder phenotypes.Nature communications · 2026Article
- Transcriptomic Convergence and the Female Protective Effect in Autism.bioRxiv : the preprint server for biology · 2025Article
- CorrAdjust unveils biologically relevant transcriptomic correlations by efficiently eliminating hidden confounders.Nucleic acids research · 2025Article
- Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners.Epigenetics & chromatin · 2025Article
- Combinatorial effector targeting (COMET) for transcriptional modulation and locus-specific biochemistry.bioRxiv : the preprint server for biology · 2024Article
- Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.Genome research · 2024Article
- Fine-mapping causal tissues and genes at disease-associated loci.medRxiv : the preprint server for health sciences · 2024Article
- Chromatinopathies: insight in clinical aspects and underlying epigenetic changes.Journal of applied genetics · 2024Review
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.JCI insight · 2024Article
- A comprehensive atlas of epigenetic regulators reveals tissue-specific epigenetic regulation patterns.Epigenetics · 2023Article
- Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.bioRxiv : the preprint server for biology · 2023Article
- Stage-specific coexpression network analysis of Myc in cohorts of renal cancer.Scientific reports · 2023Article
- Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.Journal of neurodevelopmental disorders · 2023Review
- Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.Human genetics · 2022Article
- Concerted Regulation of Glycosylation Factors Sustains Tissue Identity and Function.Biomedicines · 2022Article
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 4 institutions in 3 countries.
Funding
Abstract
Coding variants in epigenetic regulators are emerging as causes of neurological dysfunction and cancer. However, a comprehensive effort to identify disease candidates within the human epigenetic machinery (EM) has not been performed; it is unclear whether features exist that distinguish between variation-intolerant and variation-tolerant EM genes, and between EM genes associated with neurological dysfunction versus cancer. Here, we rigorously define 295 genes with a direct role in epigenetic regulation (writers, erasers, remodelers, readers). Systematic exploration of these genes reveals that although individual enzymatic functions are always mutually exclusive, readers often also exhibit enzymatic activity (dual-function EM genes). We find that the majority of EM genes are very intolerant to loss-of-function variation, even when compared to the dosage sensitive transcription factors, and we identify 102 novel EM disease candidates. We show that this variation intolerance is driven by the protein domains encoding the epigenetic function, suggesting that disease is caused by a perturbed chromatin state. We then describe a large subset of EM genes that are coexpressed within multiple tissues. This subset is almost exclusively populated by extremely variation-intolerant genes and shows enrichment for dual-function EM genes. It is also highly enriched for genes associated with neurological dysfunction, even when accounting for dosage sensitivity, but not for cancer-associated EM genes. Finally, we show that regulatory regions near epigenetic regulators are genetically important for common neurological traits. These findings prioritize novel disease candidate EM genes and suggest that this coexpression plays a functional role in normal neurological homeostasis.
Indexed as
Identifiers
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.