Schizophrenia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Using mature miRNA profiling and quantitative real-time PCR (qRT-PCR) in the orbitofrontal cortex (OFC) of SCZ (N = 29; 20 male and 9 female), BD (N = 26; 12 male and 14 female), and unaffected control (N = 25; 21 male and 4 female) subjects, we uncovered that miR-223, an exosome-secreted miRNA that targets glutamate receptors, was increased at the mature miRNA level in the OFC of SCZ and BD patients with positive history of psychosis at the time of death and was inversely associated with deficits in the expression of its targets glutamate ionotropic receptor NMDA-type subunit 2B (GRIN2B) and glutamate ionotropic receptor AMPA-type subunit 2 (GRIA2).
|
31775160 |
2020 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
In a recent weighted burden analysis of exome-sequenced schizophrenia cases and controls, we noted modest statistical evidence for an enrichment of rare, functional variants in FYN, GRIN1, and GRIN2B in schizophrenia cases.
|
30664045 |
2019 |
Schizophrenia
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Changes in GRIN2B promoter methylation may represent an environmental influence contributing to glutamatergic dysfunction in psychosis and relate to lower cognitive performance in subjects with first-episode schizophrenia.
|
30785307 |
2019 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
<i>N</i>-Methyl D-aspartate receptor subtype 2B (NR2B)-containing NMDAR are associated with cognitive dysfunction in schizophrenia.
|
29695955 |
2018 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins.
|
28283559 |
2017 |
Schizophrenia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Accordingly, we found that upon crack inhalation mice have shown decreased social interaction and working memory deficits analogous to schizophrenia's symptoms, along with increased D2S/D2L expression ratio and decreased expression of NR1, NR2A and NR2B NMDA receptor subunits in the PFC.
|
28314129 |
2017 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
RGD |
The selective loss of NR2B protein and subsequent synaptic dysfunction weakens plPFC function during development and may underlie early cognitive impairments in SCZ models and patients.
|
28628228 |
2017 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The selective loss of NR2B protein and subsequent synaptic dysfunction weakens plPFC function during development and may underlie early cognitive impairments in SCZ models and patients.
|
28628228 |
2017 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
|
28095420 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GRIN2B variants were genotyped using standard TaqMan procedures in 175 European patients with schizophrenia deemed resistant or intolerant to treatment.
|
26876050 |
2016 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To further examine the association between mutations in GRIN2B and SCZ/ASD development, a larger sample size and functional experiments are needed.
|
27616045 |
2016 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated whether single nucleotide polymorphisms (SNPs) in GRIN2B were associated with schizophrenia.
|
27453061 |
2016 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR) gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental delay, epilepsy, and schizophrenia.
|
27818011 |
2016 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
|
27839871 |
2016 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
|
27572814 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
|
27839871 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
|
27572814 |
2016 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of schizophrenia in Ashkenazi Jews.
|
26198764 |
2015 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we performed a case-control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population.
|
26020650 |
2015 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Especially, GluN2B, a subunit of NMDA receptors, associated trafficking complex is altered in the prefrontal cortex of schizophrenia.
|
26421900 |
2015 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings suggest that GRIN2B may be associated with schizophrenia and interaction effects of the polymorphisms in hsa-miR-219, CAKM2G, GRIN2B and GRIN3A may confer susceptibility to schizophrenia in the Chinese Han population.
|
26257337 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
|
24863970 |
2014 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
|
24272827 |
2014 |