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CNTNAP2variants affect early language development in the general population [PDF]
Early language development is known to be under genetic influence, but the genes affecting normal variation in the general population remain largely elusive.
Andrew Whitehouse +2 more
exaly +9 more sources
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Preliminary evidence for timing abnormalities in the CNTNAP2 knockout rat
Behavioural Processes, 2021The CNTNAP2 gene has been implicated in several neuropsychological disorders, including autism spectrum disorder (ASD) and schizophrenia. The CNTNAP2 knockout (KO) rat model, rats without the CNTNAP2 gene, exhibits deficits in social interaction and increases in both repetitive and anxiety-like behaviors.
Adam Fox
exaly +3 more sources
Shining a light on CNTNAP2: complex functions to complex disorders [PDF]
The genetic basis of complex neurological disorders involving language are poorly understood, partly due to the multiple additive genetic risk factors that are thought to be responsible. Furthermore, these conditions are often syndromic in that they have a range of endophenotypes that may be associated with the disorder and that may be present in ...
Joses Ho, Sonja C Vernes
exaly +4 more sources
Direct Downregulation of CNTNAP2 by STOX1A is Associated with Alzheimer's Disease [PDF]
STOX1A is a transcription factor which is functionally and structurally similar to the forkhead box protein family. STOX1A has been shown to be associated with pre-eclampsia, a pregnancy associated disease, and to have potential implications in late onset Alzheimer's disease.
van Abel, D. +5 more
openaire +2 more sources
Resveratrol rescued the pain related hypersensitivity for Cntnap2-deficient mice
European Journal of Pharmacology, 2021Contactin-associated protein-like 2 (CNTNAP2 or CASPR2) is a neuronal transmembrane protein of the neurexin superfamily which is correlated with pain related hypersensitivity. Recent results indicated that the hyperactive phosphoinositide 3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) signaling pathway may be a promising ...
Zaiqi, Zhang +5 more
openaire +2 more sources
CNTNAP2 and Autism Spectrum Disorders
2013Although autism was described in the early 1940s as a disorder of affective contact (Kanner, 1943), it was not classified as a neurodevelopmental disorder with a biological basis until the early 1980s, when studies reported its high heritability (Folstein & Rutter, 1977; Ritvo et al., 1985) and co-occurrence with chromosomal abnormalities (Gillberg
Olga Peñagarikano, Daniel H. Geschwind
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Expression of Cntnap2 (Caspr2) in multiple levels of sensory systems
Molecular and Cellular Neuroscience, 2016Genome-wide association studies and copy number variation analyses have linked contactin associated protein 2 (Caspr2, gene name Cntnap2) with autism spectrum disorder (ASD). In line with these findings, mice lacking Caspr2 (Cntnap2(-/-)) were shown to have core autism-like deficits including abnormal social behavior and communication, and behavior ...
Aaron, Gordon +6 more
openaire +2 more sources
Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population
Psychiatric Genetics, 2010Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population.In this study, three single nucleotide polymorphisms located
Xiaoping, Li +12 more
openaire +4 more sources

