|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among the genes disrupted by the remaining rare CNVs are MYT1L, CTNND2, NRXN1, and ASTN2, genes that play an important role in neuronal functioning but--except for NRXN1--have not been associated with schizophrenia before.
|
18940311 |
2008 |
|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found five patients with a CNV occurring in one of the regions most convincingly implicated as risk factors for schizophrenia: NRXN1 and the 16p13.1 regions were found to be deleted in single patients and 15q11.2 in 2 patients, whereas the 15q13.3 region was duplicated in one patient.
|
20967226 |
2010 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions.
|
21285140 |
2011 |
|
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 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Large NRXN1 deletions have also been associated with schizophrenia.
|
20860064 |
2010 |
|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
CTD_human |
At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia.
|
20157312 |
2011 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Rare NRXN1 promoter variants in patients with schizophrenia.
|
20347009 |
2010 |
|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders.
|
21424692 |
2011 |
|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
|
17989066 |
2008 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that NRXN1 deletions affecting exons confer risk of schizophrenia.
|
18945720 |
2009 |
|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
These include ZNF804A, TCF4 and NRGN, which contain common variants that weakly increase schizophrenia susceptibility, and NRXN1, in which rare copy number variants have a greater impact on schizophrenia risk.
|
20934321 |
2010 |
|
Schizophrenia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence.
|
20162629 |
2010 |
|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
BEFREE |
There is evidence both for an increased burden of large, rare CNVs in schizophrenia and that risk is conferred by a number of specific large CNVs as well as by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1.
|
21895634 |
2012 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and NRXN1 and duplications of 15q11-q13 (maternal), 16p11, and 16p13.3 have the strongest association with schizophrenia.
|
22118685 |
2011 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1.
|
21915259 |
2011 |
|
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 |
|
Schizophrenia
|
0.700 |
Biomarker
|
disease |
CTD_human |
The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions.
|
21285140 |
2011 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Overall, however, the results do not suggest the existence of rare, highly penetrant NRXN1 mutations in patients with schizophrenia.
|
21288692 |
2011 |
|
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 |
|
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia.
|
22617343 |
2012 |