Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2

M Wöhr, JL Silverman, ML Scattoni, SM Turner… - Behavioural brain …, 2013 - Elsevier
Mutations in neurexin and neuroligin genes have been associated with neurodevelopmental
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

X Chen, Y Shen, F Zhang, C Chiang… - The American Journal of …, 2013 - cell.com
NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for
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

MB Stein, BZ Yang, DA Chavira, CA Hitchcock… - Biological …, 2011 - Elsevier
BACKGROUND:: Selective mutism (SM), considered an early-onset variant of social anxiety
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 …

M Lam, M Moslem, J Bryois, RJ Pronk, E Uhlin… - Experimental cell …, 2019 - Elsevier
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 …

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 …

[HTML][HTML] An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder

SM Williams, JY An, J Edson, M Watts… - Molecular …, 2019 - nature.com
A number of genetic studies have identified rare protein-coding DNA variations associated
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 …

[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 …

[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 …

[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 …