Social deficits are a hallmark feature of autism spectrum disorder (ASD) and related developmental syndromes. Although there is no standard treatment for social dysfunction, clinical studies have identified oxytocin as a potential therapeutic with prosocial efficacy. We have previously reported that peripheral oxytocin treatment can increase sociability and ameliorate repetitive stereotypy in a...

Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) receptors subunit GRIN1 (GluN1) identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.

Medial ganglionic eminence (MGE)-derived parvalbumin (PV)+, somatostatin (SST)+and Neurogliaform (NGFC)-type cortical and hippocampal interneurons, have distinct molecular, anatomical, physiological properties. However, the molecular mechanisms regulating their maturation remain poorly understood. Here, via single-cell transcriptomics, we show that obligate NMDA-type glutamate receptor (NMDAR) ...

Introduction: NMDA receptors are involved in the pathogenesis of seizures, as it subunit is coded for by GRIN1 gene. Different mutations known patients with different forms epilepsy and encephalopathy. However, no data available on participation gene its polymorphisms development post-traumatic (PTE). Aim: To determine influence single-nucleotide rs1126442 polymorphism risk PTE formation. Mater...

The prokaryotic adaptive immune system CRISPR/Cas9 has recently been adapted for genome editing in eukaryotic cells. This technique allows for sequence-specific induction of double-strand breaks in genomic DNA of individual cells, effectively resulting in knock-out of targeted genes. It thus promises to be an ideal candidate for application in neuroscience where constitutive genetic modificatio...

    Abstract   Background: Schizophrenia is a severe mental disorder and numerous genes and loci   are beleived to be involved in this disease. Recent studies have reported a strong genetic association between DTNBP1 (dystrobrevin-binding protein 1) gene variants and schizophrenia.   Methods: In this research, we used a case-control study to establish the possible association between the P1635 ...

introduction: using addictive drugs can change the amount of neurotransmitters, especially dopamine and glutamate. glutamate has been known to trigger the relapse and tendency toward addictive drugs. the glutamate receptor ionotropic nmda type subunit 1 (grin1) contains the single- nucleotide polymorphism c1001g (rs11146020) and encodes n-methyl-d-aspartic acid (ndma) receptor subunit 1 (nr1). ...

The RNA Pol II transcription complex pauses just downstream of the promoter in a significant fraction of human genes. The local features of genomic structure that contribute to pausing have not been defined. Here, we show that genes that pause are more G-rich within the region flanking the transcription start site (TSS) than RefSeq genes or non-paused genes. We show that enrichment of binding m...