ArticleStem cell reports2018
Disruption of GRIN2B Impairs Differentiation in Human Neurons.
Article in Stem cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
What it found
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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.
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Who cites it
48 citing papers in PubMed, 69 citations in OpenAlex.
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- Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seq.bioRxiv : the preprint server for biology · 2026Article
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- A multi-omic single-cell landscape of cellular diversification in the developing human cerebral cortex.Computational and structural biotechnology journal · 2024Article
- Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma.International journal of molecular sciences · 2024Article
- NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.International journal of molecular sciences · 2024Review
- Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.Physiological research · 2024Review
- Single-cell RNA-seq data analysis reveals functionally relevant biomarkers of early brain development and their regulatory footprints in human embryonic stem cells (hESCs).Briefings in bioinformatics · 2024Article
- Effects of hyperbaric oxygen therapy on autistic behaviors andFrontiers in neuroscience · 2024Article
- Transcriptional Dysregulation and Impaired Neuronal Activity inInternational journal of molecular sciences · 2023Article
- FOXP1 orchestrates neurogenesis in human cortical basal radial glial cells.PLoS biology · 2023Article
- Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.Translational psychiatry · 2023Article
- D-serine availability modulates prefrontal cortex inhibitory interneuron development and circuit maturation.Scientific reports · 2023Article
- An Optimized Workflow to Generate and Characterize iPSC-Derived Motor Neuron (MN) Spheroids.Cells · 2023Article
- Overlapping cortical malformations in patients with pathogenic variants inJournal of medical genetics · 2023Article
- N-methyl-D-aspartate receptor hypofunction as a potential contributor to the progression and manifestation of many neurological disorders.Frontiers in molecular neuroscience · 2023Review
- Exploration and validation of m7G-related genes as signatures in the immune microenvironment and prognostic indicators in low-grade glioma.American journal of translational research · 2023Article
- DANGER analysis: risk-averse on/off-target assessment for CRISPR editing without a reference genome.Bioinformatics advances · 2023Article
- Perspective: Might Maternal Dietary Monosodium Glutamate (MSG) Consumption Impact Pre- and Peri-Implantation Embryos and Their Subsequent Development?International journal of environmental research and public health · 2022Article
- Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes.Nature communications · 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
19 authors at 4 institutions in 2 countries.
Funding
Abstract
Heterozygous loss-of-function mutations in GRIN2B, a subunit of the NMDA receptor, cause intellectual disability and language impairment. We developed clonal models of GRIN2B deletion and loss-of-function mutations in a region coding for the glutamate binding domain in human cells and generated neurons from a patient harboring a missense mutation in the same domain. Transcriptome analysis revealed extensive increases in genes associated with cell proliferation and decreases in genes associated with neuron differentiation, a result supported by extensive protein analyses. Using electrophysiology and calcium imaging, we demonstrate that NMDA receptors are present on neural progenitor cells and that human mutations in GRIN2B can impair calcium influx and membrane depolarization even in a presumed undifferentiated cell state, highlighting an important role for non-synaptic NMDA receptors. It may be this function, in part, which underlies the neurological disease observed in patients with GRIN2B mutations.
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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.