ReviewJournal of neurochemistry2022
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Review in Journal of neurochemistry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 13 citations in OpenAlex.
- Spatial mapping of RNA turnover kinetics in the mouse brain.Nature neuroscience · 2026Article
- ZBTB18 Dysfunction Promotes Neuropathic Pain via CHD4-based Epigenetic Disinhibition of CLIC1 Channels in Sensory Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- 3d-OT: a deep geometry-aware framework for heterogeneous slices alignment of spatial multi-omics.Nature methods · 2026Article
- Spatial mapping of RNA turnover kinetics and regulatory landscapes of mRNA stability in the mammalian brain.bioRxiv : the preprint server for biology · 2026Article
- Mendelian randomization identifies proteins involved in neurodegenerative diseases.Brain : a journal of neurology · 2025Article
- Proteomics analysis in rats reveals convergent mechanisms between major depressive disorder and dietary zinc deficiency.Pharmacological reports : PR · 2025Article
- Methylation and gene expression patterns in adamantinomatous craniopharyngioma highlight a panel of genes associated with disease progression-free survival.Frontiers in endocrinology · 2025Article
- An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns.American journal of human genetics · 2024Article
- Epigenomic tomography for probing spatially defined chromatin state in the brain.Cell reports methods · 2024Article
- LINC02774 inhibits glycolysis in glioma to destabilize HIF-1α dependent on transcription factor RP58.MedComm · 2023Article
- Gene dysregulation in acute HIV-1 infection - early transcriptomic analysis reveals the crucial biological functions affected.Frontiers in cellular and infection microbiology · 2023Article
- Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.Journal of neurochemistry · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations to genes that encode DNA-binding transcription factors (TFs) underlie a broad spectrum of human neurodevelopmental disorders. Here, we highlight the pathological mechanisms arising from mutations to TF genes that influence the development of mammalian cerebral cortex neurons. Drawing on recent findings for TF genes including ZBTB18, we discuss how functional missense mutations to such genes confer non-native gene regulatory actions in developing neurons, leading to cell-morphological defects, neuroanatomical abnormalities during foetal brain development and functional impairment. Further, we discuss how missense variation to human TF genes documented in the general population endow quantifiable changes to transcriptional regulation, with potential cell biological effects on the temporal progression of cerebral cortex neuron development and homeostasis. We offer a systematic approach to investigate the functional impact of missense variation in brain TFs and define their direct molecular and cellular actions in foetal neurodevelopment, tissue homeostasis and disease states.
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