Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2022 5
2023 16
2024 24
2025 23
2026 9

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

69 results

Results by year

Filters applied: . Clear all
Page 1
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M, Candelas Serra M, Abdel Rahman F, Dobrovolski M, Kuchtiak V, Abramova V, Fili K, Tomovic E, Hrcka Krausova B, Krusek J, Cerny J, Vyklicky L, Balik A, Smejkalova T. Korinek M, et al. Physiol Res. 2024 May 31;73(Suppl 1):S413-S434. doi: 10.33549/physiolres.935346. Epub 2024 May 31. Physiol Res. 2024. PMID: 38836461 Free PMC article. Review.
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 o …
Here we review the current literature on the functional evaluation of human disease-associated variants in GRIN1, GRIN2A and GRIN2B g …
Identification of early Alzheimer's disease subclass and signature genes based on PANoptosis genes.
Wang W, Lu J, Pan N, Zhang H, Dai J, Li J, Chi C, Zhang L, Wang L, Zhang M. Wang W, et al. Front Immunol. 2024 Nov 22;15:1462003. doi: 10.3389/fimmu.2024.1462003. eCollection 2024. Front Immunol. 2024. PMID: 39650656 Free PMC article.
Additionally, ten hub genes, SLC17A7, SNAP25, GAD1, SLC17A6, SLC32A1, PVALB, SYP, GRIN2A, SLC12A5, and SYN2, were identified as marker genes for the early subtype. These findings may provide valuable insights for the early diagnosis of AD and contribute to the development …
Additionally, ten hub genes, SLC17A7, SNAP25, GAD1, SLC17A6, SLC32A1, PVALB, SYP, GRIN2A, SLC12A5, and SYN2, were identified as marke …
Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
Gjerulfsen CE, Krey I, Klöckner C, Rubboli G, Lemke JR, Møller RS. Gjerulfsen CE, et al. Methods Mol Biol. 2024;2799:1-11. doi: 10.1007/978-1-0716-3830-9_1. Methods Mol Biol. 2024. PMID: 38727899 Review.
Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-aspartate (GRIN) genes (GRIN1, GRIN2A-D) encoding NMDAR subunits have been associated with a wide spectrum of neurodevelopmental disorders and epilepsies ranging from treatable focal epilepsies to devastat …
Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-aspartate (GRIN) genes (GRIN1, GRIN2A-D) encoding NMDAR subunits …
Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients.
Herzog LE, Wang L, Yu E, Choi S, Farsi Z, Song BJ, Pan JQ, Sheng M. Herzog LE, et al. Transl Psychiatry. 2023 Mar 13;13(1):92. doi: 10.1038/s41398-023-02393-7. Transl Psychiatry. 2023. PMID: 36914641 Free PMC article.
AKAP11 and GRIN2A mutations are also associated with bipolar disorder [2], and epilepsy and developmental delay/intellectual disability [1, 3, 4], respectively. ...Sleep spindle density was reduced in a gene dose-dependent manner in Akap11 mutants, whereas Grin2a mu …
AKAP11 and GRIN2A mutations are also associated with bipolar disorder [2], and epilepsy and developmental delay/intellectual disabili …
GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia.
Harrison PJ, Bannerman DM. Harrison PJ, et al. Mol Psychiatry. 2023 Sep;28(9):3568-3572. doi: 10.1038/s41380-023-02265-y. Epub 2023 Sep 22. Mol Psychiatry. 2023. PMID: 37736757 Free PMC article. Review.
An important development is provided by recent data that strongly implicate GRIN2A, the gene encoding the NR2A (GluN2A) NMDA receptor subunit, in the aetiology of the disorder. ...We review the genomic evidence, and the findings from Grin2a mutant mice and other mod …
An important development is provided by recent data that strongly implicate GRIN2A, the gene encoding the NR2A (GluN2A) NMDA receptor …
GRIN2A: one gene, many phenotypes.
Singh T. Singh T. Trends Genet. 2026 Apr;42(4):309-310. doi: 10.1016/j.tig.2026.02.004. Epub 2026 Mar 23. Trends Genet. 2026. PMID: 41876267 Review.
GRIN2A, a gene encoding a subunit of the N-methyl-d-aspartate (NMDA) receptor, is linked to epilepsy, language impairment, and schizophrenia, but how these associations relate to one another within individuals remains unclear. Recontacting GRIN2A carriers shows that …
GRIN2A, a gene encoding a subunit of the N-methyl-d-aspartate (NMDA) receptor, is linked to epilepsy, language impairment, and schizo …
CHRM2 and GRIN2A polymorphisms in tardive dyskinesia and cognitive impairments in Chinese Han schizophrenia.
Lu C, Wang L, Wang J, Zeng M, Zhang X, Li Y, Zhang X, Liu N, Chi J, Wang L, Li S. Lu C, et al. J Neural Transm (Vienna). 2026 Mar;133(3):529-538. doi: 10.1007/s00702-025-02954-8. Epub 2025 May 30. J Neural Transm (Vienna). 2026. PMID: 40445323
Additionally, significant differences in attention and total RBANS scores were observed across CHRM2 rs2061174 genotypes within the TD group (F = 2.55, p = 0.05; F = 5.08, p = 0.05). The combination of CHRM2 (rs1824024)-GRIN2A (rs7206256) and CHRM2 (rs2061174)-GRIN2A …
Additionally, significant differences in attention and total RBANS scores were observed across CHRM2 rs2061174 genotypes within the TD group …
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.
Ngoh A, Clark M, Greenaway R, Chen X, Reid KM, Barwick K, Meyer E, Moulding D, Trump N, Cross JH, Fraser SD, de Hayr L, Kullmann DM, Lynch JW, Harvey RJ, Kurian MA. Ngoh A, et al. Ann Neurol. 2025 Nov;98(5):951-966. doi: 10.1002/ana.27306. Epub 2025 Sep 13. Ann Neurol. 2025. PMID: 40944498 Free PMC article.
Whole exome/genome sequencing was performed on GRIN2A-negative patients to identify novel gene associations. RESULTS: LKS is complex with significant clinical and genetic heterogeneity. ...Steroid therapy improved language outcomes independently of electroencephalogram fin …
Whole exome/genome sequencing was performed on GRIN2A-negative patients to identify novel gene associations. RESULTS: LKS is complex …
Decoding frontotemporal and cell-type-specific vulnerabilities to neuropsychiatric disorders and psychoactive drugs.
Ji J, Chao H, Chen H, Liao J, Shi W, Ye Y, Wang T, You Y, Liu N, Ji J, Petretto E. Ji J, et al. Open Biol. 2024 Jun;14(6):240063. doi: 10.1098/rsob.240063. Epub 2024 Jun 12. Open Biol. 2024. PMID: 38864245 Free PMC article.
These psychiatric disease-associated genes were mostly upregulated in the TL, and dysregulated in the brain of patients with obsessive-compulsive disorder, bipolar disorder and schizophrenia. Among these genes, GRIN2A and SLC12A5, implicated in schizophrenia and bipolar di …
These psychiatric disease-associated genes were mostly upregulated in the TL, and dysregulated in the brain of patients with obsessive-compu …
Genome-wide association study of neuropathological features in Lewy body disease.
Valentino RR, Koga S, Soto-Beasley AI, Ono D, Wieczorek MA, Johnson PW, White LJ, Watkins MM, Murray ME, Kasanuki K, McLean PJ, Springer W, Uitti RJ, Fields JA, Botha H, Ramanan VK, Kantarci K, Lowe VJ, Jack CR Jr, Bras J, Guerreiro R, Ertekin-Taner N, Savica R, Graff-Radford J, Petersen RC, Parisi JE, Reichard RR, Graff-Radford NR, Ferman TJ, Boeve BF, Wszolek ZK, Dickson DW, Heckman MG, Ross OA. Valentino RR, et al. Brain. 2025 Aug 1;148(8):2785-2796. doi: 10.1093/brain/awaf105. Brain. 2025. PMID: 40091616 Free PMC article.
Although additional genome-wide significant associations were identified in the discovery series between LINC01581/MCTP2 rs547411734 and lower middle frontal LB counts, between TLE3 rs3743309 and lower cingulate LB counts, and between GRIN2A/ATF7IP2 rs1097915 and lower par …
Although additional genome-wide significant associations were identified in the discovery series between LINC01581/MCTP2 rs547411734 and low …
69 results