Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2
Mutations in neurexin and neuroligin genes have been associated with neurodevelopmental
disabilities including autism. Autism spectrum disorder is diagnosed by aberrant reciprocal …
disabilities including autism. Autism spectrum disorder is diagnosed by aberrant reciprocal …
[HTML][HTML] Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs
NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …
A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits
BACKGROUND:: Selective mutism (SM), considered an early-onset variant of social anxiety
disorder, shares features of impaired social interaction and communication with autism …
disorder, shares features of impaired social interaction and communication with autism …
[HTML][HTML] Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal …
We generated human iPS derived neural stem cells and differentiated cells from healthy
control individuals and an individual with autism spectrum disorder carrying bi-allelic …
control individuals and an individual with autism spectrum disorder carrying bi-allelic …
Stress-Induced Neuron Remodeling Reveals Differential Interplay Between Neurexin and Environmental Factors in Caenorhabditis elegans
MP Hart - Genetics, 2019 - academic.oup.com
Hart characterizes a novel interaction between genetics and environmental stress on
experience-dependent neuron remodeling and plasticity in Caenorhabditis elegans …
experience-dependent neuron remodeling and plasticity in Caenorhabditis elegans …
[HTML][HTML] An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder
A number of genetic studies have identified rare protein-coding DNA variations associated
with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant …
with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant …
Ketamine restores thalamic-prefrontal cortex functional connectivity in a mouse model of neurodevelopmental disorder-associated 2p16. 3 deletion
RB Hughes, J Whittingham-Dowd… - Cerebral …, 2020 - academic.oup.com
Abstract 2p16. 3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion,
dramatically increase the risk of developing neurodevelopmental disorders, including autism …
dramatically increase the risk of developing neurodevelopmental disorders, including autism …
[HTML][HTML] Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders
M Goto, M Mizuno, A Matsumoto, Z Yang, EF Jimbo… - Scientific reports, 2017 - nature.com
In our previous study, we screened autism spectrum disorder (ASD) patients with and
without sleep disorders for mutations in the coding regions of circadian-relevant genes, and …
without sleep disorders for mutations in the coding regions of circadian-relevant genes, and …
[HTML][HTML] Deletion of NRXN1α impairs long-range and local connectivity in amygdala fear circuit
D Asede, A Joseph, MLM Bolton - Translational Psychiatry, 2020 - nature.com
Neurexins are a family of presynaptic cell adhesion proteins that regulate synaptic structure
and maintain normal synaptic transmission. Mutations in the α-isoform of neurexin1-gene …
and maintain normal synaptic transmission. Mutations in the α-isoform of neurexin1-gene …
[HTML][HTML] Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
M Alarcón, BS Abrahams, JL Stone, JA Duvall… - The American Journal of …, 2008 - cell.com
Autism is a genetically complex neurodevelopmental syndrome in which language deficits
are a core feature. We describe results from two complimentary approaches used to identify …
are a core feature. We describe results from two complimentary approaches used to identify …