Results 51 to 60 of about 4,840 (178)

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. [PDF]

PLoS Genetics, 2015
Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses,
John D Murdoch, Abha R Gupta, Stephan J Sanders, Michael F Walker, John Keaney, Thomas V Fernandez, Michael T Murtha, Samuel Anyanwu, Gordon T Ober, Melanie J Raubeson, Nicholas M DiLullo, Natalie Villa, Zainabdul Waqar, Catherine Sullivan, Luis Gonzalez, A Jeremy Willsey, So-Yeon Choe, Benjamin M Neale, Mark J Daly, Matthew W State   +19 more
doaj   +1 more source

Presentation_1_Loss of ASD-related molecule Cntnap2 affects colonic motility in mice.pdf

, 2023
Gastrointestinal (GI) symptoms are highly prevalent among individuals with autism spectrum disorder (ASD), but the molecular link between ASD and GI dysfunction remains poorly understood.
Beatriz G. Robinson (17359126), Keiramarie Robertson (17359132), Julia A. Kaltschmidt (14019607), Beau A. Oster (17359129)   +3 more
core   +1 more source

Role of CNTNAP2 in autism manifestation outlines the regulation of signaling between neurons at the synapse

Egyptian Journal of Medical Human Genetics, 2021
Background Autism is characterized by high heritability and a complex genetic mutational landscape with restricted social behavior and impaired social communication.
Swati Agarwala, Nallur B. Ramachandra
doaj   +1 more source

Altered Blood Brain Barrier Permeability and Oxidative Stress in Cntnap2 Knockout Rat Model

, 2022
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by three core symptoms, specifically impaired social behavior, stereotypic/repetitive behaviors, and sensory/communication deficits.
Rahul Mittal, White, Isaiah, Rebecca Eshraghi, Eshraghi, Adrien A, Furar, Emily, Mittal, Rahul, Idil Memis, Eshraghi, Rebecca S., Adrien Eshraghi, Eshraghi, Rebecca S, Memis, Idil, Emily Furar, Isaiah White, Mittal, Jeenu, Eshraghi, Adrien A., Jeenu Mittal   +15 more
core   +1 more source

Properties of the Caudal Pontine Reticular Nucleus Neurons Determine the Acoustic Startle Response in Cntnap2 KO Rats

Journal of Integrative Neuroscience
Background: Rats with a loss-of-function mutation in the contactin-associated protein-like 2 (Cntnap2) gene have been validated as an animal model of autism spectrum disorder (ASD). Similar to many autistic individuals, Cntnap2 knock-out rats (Cntnap2-⁣/-
Alice Zheng, Rajkamalpreet S. Mann, Dami Solaja, Brian L. Allman, Susanne Schmid   +4 more
doaj   +1 more source

GABAB Receptor Agonist R-Baclofen Reverses Altered Auditory Reactivity and Filtering in the Cntnap2 Knock-Out Rat

Frontiers in Integrative Neuroscience, 2021
Altered sensory information processing, and auditory processing, in particular, is a common impairment in individuals with autism spectrum disorder (ASD).
Dorit Möhrle, Wenxuan Wang, Shawn N. Whitehead, Susanne Schmid   +3 more
doaj   +1 more source

Implicit Artificial Syntax Processing: Genes, Preference, and Bounded Recursion

Biolinguistics, 2011
The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI ...
Vasiliki Folia, Christian Forkstam, Martin Ingvar, Karl Magnus Petersson   +3 more
doaj   +1 more source

Regulation of CNTNAP2 expression and modification and its role in autism spectrum disorders

, 2022
Autism spectrum disorders (ASD) are a group of common neurodevelopmental disorders four times as prevalent in males as in females. Many genetic and environmental risk factors contribute to ASD, while the mechanisms underlying ASD pathogenesis remain ...
Zhang, Qing
core   +1 more source

Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?

Journal of Experimental Neuroscience, 2018
The CNTNAP2 gene has been proposed to be one of the major susceptibility genes for neurodevelopmental disorders, in which numerous heterozygous missense variants have been identified in patients with autism spectrum disorder (ASD).
Giorgia Canali, Laurence Goutebroze
doaj   +1 more source

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Nature Communications, 2021
Mutations in CNTNAP2 have been associated with a syndromic form of Autism Spectrum Disorder. Here the authors show that forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of ASD with a homozygous ...
Job O. de Jong, Ceyda Llapashtica, Matthieu Genestine, Kevin Strauss, Frank Provenzano, Yan Sun, Huixiang Zhu, Giuseppe P. Cortese, Francesco Brundu, Karlla W. Brigatti, Barbara Corneo, Bianca Migliori, Raju Tomer, Steven A. Kushner, Christoph Kellendonk, Jonathan A. Javitch, Bin Xu, Sander Markx   +17 more
doaj   +1 more source