ReviewPhysiological research2024
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Review in Physiological research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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.
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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
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Neuroimmunome of Hepatitis Patients Associates With Disease Severity.Journal of medical virology · 2025Pooled it
- Computational screening of Alternaria metabolites as potential DPP-4 inhibitors: ADMET, molecular docking, molecular dynamics, and network pharmacology analysis.Molecular diversity · 2026Article
- Peripheral Blood Gene Expression and Protein Profiles of Purinergic and Glutamatergic Signaling Components and PD-L1 in Gastric Cancer: A Cross-Sectional Study.Current issues in molecular biology · 2026Article
- Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies.Translational psychiatry · 2026Article
- Prenatal stress, excitatory-inhibitory imbalance, and ADHD risk: a hypothesis-driven perspective on psilocybin-induced neuroplasticity.Translational psychiatry · 2026Review
- Association BetweenBrain sciences · 2026Article
- Candidate Key Proteins in Thalamo-Amygdala Signaling in Tinnitus: A Bioinformatics Study.International journal of molecular sciences · 2026Article
- Observational
- Distinct actions of the humid heat environment on host gut microbiota, intestinal mucosal immunity, neuroendocrinology in influenza A virus-infected mouse.Brain, behavior, & immunity - health · 2026Article
- Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.Cellular and molecular life sciences : CMLS · 2026Article
- Identification of Key Bioactive Compounds of Medicine-Food Homologous Substances and Their Multi-Target Intervention Effects in Osteosarcoma Treatment.International journal of molecular sciences · 2026Article
- Neurogenesis and neuroplasticity activities of natural products: therapeutic potential in Alzheimer's disease.Frontiers in pharmacology · 2026Review
- Blood transcriptomic signatures link β-amyloid deposition to molecular pathways across SCD, MCI, and dementia.Frontiers in aging neuroscience · 2026Article
- GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.Orphanet journal of rare diseases · 2025Article
- Dynamic control of NMDA receptor CaProceedings of the National Academy of Sciences of the United States of America · 2025Article
- An Integrative Approach to Identifying Neuroprotective Natural Compounds for Neurodevelopmental Disorders.International journal of molecular sciences · 2025Article
- Disruption ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- The pathogenic factor of ZC4H2-associated rare disorder is a postsynaptic regulator for synaptic activity and cognitive function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- GRIN2B alleviates mid-gestational sevoflurane exposure-induced early differentiation of rat neural stem cells by interacting with KIF17.Journal of cell communication and signaling · 2025Article
- Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders.NPJ genomic medicine · 2025Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
N-methyl-D-aspartate receptors (NMDARs) are a subtype of ionotropic glutamate receptors critical for synaptic transmission and plasticity, and for the development of neural circuits. Rare or de-novo variants in GRIN genes encoding NMDAR subunits have been associated with neurodevelopmental disorders characterized by intellectual disability, developmental delay, autism, schizophrenia, or epilepsy. In recent years, some disease-associated variants in GRIN genes have been characterized using recombinant receptors expressed in non-neuronal cells, and a few variants have also been studied in neuronal preparations or animal models. Here we review the current literature on the functional evaluation of human disease-associated variants in GRIN1, GRIN2A and GRIN2B genes at all levels of analysis. Focusing on the impact of different patient variants at the level of receptor function, we discuss effects on receptor agonist and co-agonist affinity, channel open probability, and receptor cell surface expression. We consider how such receptor-level functional information may be used to classify variants as gain-of-function or loss-of-function, and discuss the limitations of this classification at the synaptic, cellular, or system level. Together this work by many laboratories worldwide yields valuable insights into NMDAR structure and function, and represents significant progress in the effort to understand and treat GRIN disorders. Keywords: NMDA receptor , GRIN genes, Genetic variants, Electrophysiology, Synapse, Animal models.
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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 Socratic graph.