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Autism Spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder where patients have impaired social behavior and communication, and restricted interests. Although various studies have been carried out to unveil the mechanisms associated with ASD, its pathophysiology is still poorly und...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-11 | PXD031656 | Pride
Accelerated brain development is a unique feature of the human species. Not only the size but also morphology, in particular the connections between frontal cortex and basal ganglia distinguish the human brain from great apes and other primates. Recent findings suggest that structural features which...
ORGANISM(S): Homo sapiens 
Accelerated brain development is a unique feature of the human species. Not only the size but also morphology, in particular the connections between frontal cortex and basal ganglia distinguish the human brain from great apes and other primates. Recent findings suggest that structural features which...
ORGANISM(S): Pan troglodytes 
We developed a human cerebral organoid model derived from induced pluripotent stem cells (iPSCs) with targeted genome editing to abolish protein expression of the Contactin Associated Protein-like 2 (CNTNAP2) autism spectrum disorder (ASD) risk gene, mimicking loss-of-function mutations seen in pati...
ORGANISM(S): Homo sapiens (Human) 
2024-11-19 | PXD051473 | Pride
This study identifies conserved protein biomarkers for Autism Spectrum Disorder (ASD) using a cross-species proteomic approach. Proteomic analyses were conducted on serum and brain samples from CNTNAP2 knockout (KO) mice and human ASD patient serum. A total of 132 conserved proteins were identified,...
ORGANISM(S): Homo sapiens (Human) 
2026-02-23 | PXD060810 | Pride
CNTNAP2-203 interaction with EGFR modulates E2F1 activity and promotes tumorigenesis in oral squamous cell carcinoma.
PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
CNTNAP2 has two isoforms with clear evidence of expression: CNTNAP2-201 and CNTNAP2-203. Extensive research has centered on the full-length CNTNAP2-201, as a neuronal adhesion molecule, due to its association with numerous neurodevelopmental disorders, the role of CNTNAP2-203 in disease pathology ha...
ORGANISM(S): Homo sapiens 
2025-10-10 | GSE279201 | GEO
We queried the expression of CNTNAP2 in Ngn2-induced neurons from each member of this family trio, hypothesizing that heterozygous intragenic deletions may affect the expression of CNTNAP2.
ORGANISM(S): Homo sapiens 
2017-08-19 | GSE102838 | GEO
We examined whether adult heterozygous mice (Cntnap2+/-; phenotypically normal) subjected to an early-life stress would have social-related deficits and disruptions in 5-hydroxymethylcytosine (5hmC), similar to the Cntnap2-/-.
ORGANISM(S): Mus musculus 
2021-12-20 | GSE87032 | GEO
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