What does CNTNAP2 reveal about autism spectrum disorder?
O Peñagarikano, DH Geschwind - Trends in molecular medicine, 2012 - cell.com
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
condition characterized by the presence of repetitive/restrictive behaviors and variable …
condition characterized by the presence of repetitive/restrictive behaviors and variable …
[HTML][HTML] Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
O Peñagarikano, BS Abrahams, EI Herman… - Cell, 2011 - cell.com
Although many genes predisposing to autism spectrum disorders (ASD) have been
identified, the biological mechanism (s) remain unclear. Mouse models based on human …
identified, the biological mechanism (s) remain unclear. Mouse models based on human …
[HTML][HTML] Shining a light on CNTNAP2: complex functions to complex disorders
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 …
understood, partly due to the multiple additive genetic risk factors that are thought to be …
Loss of Cntnap2 in the Rat Causes Autism‐Related Alterations in Social Interactions, Stereotypic Behavior, and Sensory Processing
Autism spectrum disorder (ASD) is characterized by social interaction and communication
impairments, as well as restrictive/repetitive patterns of behavior, interests or activities, which …
impairments, as well as restrictive/repetitive patterns of behavior, interests or activities, which …
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
G Falivelli, A De Jaco, FL Favaloro, H Kim… - Human molecular …, 2012 - academic.oup.com
Although genetic variations in several genes encoding for synaptic adhesion proteins have
been found to be associated with autism spectrum disorders, one of the most consistently …
been found to be associated with autism spectrum disorders, one of the most consistently …
Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity
Functional connectivity aberrancies, as measured with resting-state functional magnetic
resonance imaging (rsfMRI), have been consistently observed in the brain of autism …
resonance imaging (rsfMRI), have been consistently observed in the brain of autism …
Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons
G Canali, M Garcia, B Hivert, D Pinatel… - Human molecular …, 2018 - academic.oup.com
The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one
of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare …
of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare …
[HTML][HTML] Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells
Neurodevelopmental disorders, such as autism spectrum disorders and schizophrenia, are
complex disorders with a high degree of heritability. Genetic studies have identified several …
complex disorders with a high degree of heritability. Genetic studies have identified several …
[HTML][HTML] Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder in which patients
present with core symptoms of social communication impairment, restricted interest, and …
present with core symptoms of social communication impairment, restricted interest, and …
CNTNAP2 variants affect early language development in the general population
AJO Whitehouse, DVM Bishop, QW Ang… - Genes, Brain and …, 2011 - Wiley Online Library
Early language development is known to be under genetic influence, but the genes affecting
normal variation in the general population remain largely elusive. Recent studies of disorder …
normal variation in the general population remain largely elusive. Recent studies of disorder …