Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.
|
31302032 |
2019 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia.
|
31812984 |
2019 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Eight recurrent CNVs have reproducibly been shown to increase the risk of schizophrenia by severalfold: 22q11.2(del), 15q13.3(del), 1q21(del), 1q21(dup), NRXN1(del), 3q29(del), 7q11.23(dup), and 16p11.2(dup).
|
30144930 |
2019 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay.
|
31759289 |
2019 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia.
|
31812984 |
2019 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
Rats with impaired social guidance of behavior due to knockout of Nrxn1, an analog of autism-associated gene NRXN, exhibited marked LA-MeA deficits.
|
28114293 |
2017 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study examined five NRXN1 single-nucleotide polymorphisms (SNPs) for possible association with the occurrence and severity of TD in 178 schizophrenia patients of European ancestry.
|
28120489 |
2017 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data suggest a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation.
|
25943950 |
2016 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia.
|
26279266 |
2015 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All of them affect multiple genes (apart from NRXN1) and cause substantial increases in risk to develop schizophrenia (odds ratios of 2 to over 50).
|
26130694 |
2015 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia.
|
26563496 |
2015 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia.
|
26279266 |
2015 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia.
|
24633560 |
2014 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the important role of NRXN1 in autism and intellectual disability.
|
25149956 |
2014 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus we have added to the evidence that NRXN1 deletions are more frequent in patients with schizophrenia than in healthy individuals.
|
24680031 |
2014 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results provide confirmatory evidence of genetically determined differences in drug response in patients with schizophrenia related to NRXN1 variation.
|
24633560 |
2014 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses.
|
24064682 |
2013 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified deletions of the NRXN1 region in affected cohorts, confirming a strong association with the autism spectrum and other neurodevelopmental disorders.
|
23472757 |
2013 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Exonic deletions in NRXN1 have been associated with several neurodevelopmental disorders, including autism, schizophrenia and developmental delay.
|
23536886 |
2013 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features.
|
23495017 |
2013 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
Previous analyses of neurexin 1α (Nrxn1α) knockout (KO) mouse as a model of these disorders have revealed impairments in synaptic transmission but failed to reveal defects in social behaviour, one of the core symptoms of autism.
|
23840597 |
2013 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features.
|
23495017 |
2013 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Since this represents one of the core symptom domains affected in autism spectrum disorders and schizophrenia in humans, our findings suggest that deletions within NRXN1 found in patients may be responsible for the impairments seen in social behaviours, and that the Nrxn1α KO mice are a useful model of human neurodevelopmental disorder.
|
23840597 |
2013 |
Autistic Disorder
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.
|
22504536 |
2012 |