Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
The loss of CNTNAP2 function leads to autism spectrum disorder in humans and to autistic behaviours in mice.
|
31653345 |
2020 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
We show a paternally inherited miR-873-5p variant with altered binding affinity for several risk-genes including NRXN2 and CNTNAP2 putatively overlay maternally inherited loss-of-function coding variations in NRXN1 and CNTNAP2 to likely increase the genetic liability in an idiopathic ASD case.
|
29703944 |
2019 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mice deficient in Cntnap2 (Cntnap2-/- mice) show core ASD-like phenotypes, and have been demonstrated as a validated model for ASD-relevant drug discovery.
|
30816216 |
2019 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Some studies indicated the association of CNTNAP2 with ASD, while others reported no association.
|
30681286 |
2019 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
|
30763456 |
2019 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in CNTNAP2 cause a syndromic form of autism spectrum disorder in humans and produce social deficits, repetitive behaviors, and seizures in mice.
|
31141683 |
2019 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this review, we provide a summary of animal and cellular models for three genes linked to ADHD and ASD in human patients - CNTNAP2, ADGRL3, and PARK2.
|
30376466 |
2019 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings reveal a key contribution of ASD-associated gene CNTNAP2 in modulating macroscale functional connectivity, and suggest that homozygous loss-of-function mutations in this gene may predispose to neurodevelopmental disorders and autism through a selective dysregulation of connectivity in integrative prefrontal areas.
|
28184409 |
2018 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss of one Cntnap2 allele is sufficient to elicit axonal growth alteration, revealing a situation that may be relevant for CNTNAP2 heterozygosity in ASD patients.
|
29788201 |
2018 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Human autoantibodies to contactin-associated protein-like 2 (CASPR2) are often associated with neuropathic pain, and CASPR2 mutations have been linked to autism spectrum disorders, in which sensory dysfunction is increasingly recognized.
|
29429934 |
2018 |
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Considering that Cntnap2 shows high expression levels in the striatum during human and mouse embryonic development and that the cortico-striato-thalamic circuitry is important for speech and language development, alterations in striatal PV expression and associated (homeostatic) adaptations are likely to play an important role in <i>Cntnap2-/-</i> mice and, assumingly, in human ASD patients with known Cntnap2 mutations.
|
30116174 |
2018 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also tested the effects of 4 human CNTNAP2 ASD missense mutations in vivo, and found that they impaired PV+ CIN development.
|
29028946 |
2018 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Employing yeast two-hybrid screening, biochemical analysis, in situ proximity ligation assay (PLA), SIM, and phenotype rescue, we show that these effects are mediated at the membrane by the interaction of CNTNAP2's C-terminus with calcium/calmodulin-dependent serine protein kinase (CASK), another ASD/ID risk gene.
|
29610457 |
2018 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Contactin-associated protein-like 2 (<i>CNTNAP2</i>) is an ASD-associated gene, and while <i>Cntnap2</i> knockout (KO) mice recapitulate many of the features of ASD, the effect on cortical circuitry is poorly understood.
|
28115996 |
2017 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of hot spot exons in CNTNAP2 led to discovery of a 5 bp insertion in 23/37 ASD patients.
|
28358038 |
2017 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We compared electroencephalogram (EEG) and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD).
|
28364455 |
2017 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that LPS-induced maternal immune activation caused male-specific deficits in certain social responses in the contactin-associated protein-like 2 (Cntnap2) mouse model for ASD.
|
28115688 |
2017 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Anti-Caspr2 antibodies are frequent in women with brain-reactive serology and a child with ASD.
|
27698429 |
2016 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Earlier findings have suggested that SNPs in the CNTNAP2 gene may be used as genetic markers for predisposition to autism spectrum disorder (ASD).
|
26909962 |
2016 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss-of-function mutations in Contactin Associated Protein-like 2 (CNTNAP2) are strongly linked to ASDs.
|
26833134 |
2016 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Contactin Associated Protein-like 2 (CNTNAP2) gene has been discussed to be associated with different symptoms of autism spectrum disorders (ASDs) and other neurodevelopmental disorders.
|
26559825 |
2016 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we directly sequenced the CNTNAP2 5' promoter region of 236 German families with one child with ASD and detected four novel variants.
|
25224256 |
2015 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.
|
26273832 |
2015 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Little is known about the relationship between impaired CASPR2-MUPP1-receptor complex and the pathogenesis of ASD.
|
25977097 |
2015 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment.
|
23714751 |
2014 |