Autistic Disorder
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.
|
22504536 |
2012 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequence variants in NRXN1 are associated with differences in cognition, and with schizophrenia and autism.
|
22832527 |
2011 |
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 |
GeneticVariation
|
disease |
LHGDN |
Neurexin 1alpha structural variants associated with autism.
|
18490107 |
2008 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
CTD_human |
Identifying autism loci and genes by tracing recent shared ancestry.
|
18621663 |
2008 |
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 |
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.
|
21626680 |
2011 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia.
|
18945720 |
2009 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
|
17322880 |
2007 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities.
|
22106001 |
2012 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders.
|
21739571 |
2011 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Disruption of neurexin 1 associated with autism spectrum disorder.
|
18179900 |
2008 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism (26.2% vs. 13.8%; χ(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)).
|
22405623 |
2012 |
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 |
Biomarker
|
disease |
CTD_human |
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
|
18057082 |
2008 |
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 |
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 |
Autistic Disorder
|
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 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three additional subjects with NRXN1 deletions and autism were identified through the Homozygosity Mapping Collaborative for Autism, and this deletion segregated with the phenotype.
|
20468056 |
2010 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We provide support for three previous findings in schizophrenia, as we identified one deletion in a case at 1q21.1, one deletion within NRXN1, and four duplications in cases and one in a control subject at 16p13.1, a locus first implicated in autism and later in schizophrenia.
|
19880096 |
2010 |