Results 1 to 10 of about 4,840 (178)

Loss of ASD-related molecule Cntnap2 affects colonic motility in mice

Frontiers in Neuroscience, 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.
Keiramarie Robertson, Julia Kaltschmidt   +1 more
exaly   +6 more sources

Genetic variants in the CNTNAP2 gene are associated with gender differences among dyslexic children in China

EBioMedicine, 2018
Background: It is well known that males have a higher prevalence of developmental dyslexia (DD) than females. Although the mechanism underlying this gender difference remains unknown, the contactin-associated protein-like 2 (CNTNAP2) gene, which shows ...
Fang Hou, Ranran Song, Lingfei Liu
exaly   +4 more sources

Cntnap2 loss drives striatal neuron hyperexcitability and behavioral inflexibility [PDF]

eLife
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by two major diagnostic criteria – persistent deficits in social communication and interaction, and the presence of restricted, repetitive patterns of behavior (RRBs). Evidence
Katherine R Cording, Emilie M Tu, Hongli Wang, Alexander HCW Agopyan-Miu, Helen S Bateup   +4 more
doaj   +5 more sources

CNTNAP2: isoform- and context-specific functions in neurological disorders and cancer [PDF]

Frontiers in Cellular Neuroscience
Contactin-associated protein-like 2 (CNTNAP2) is one of the largest and most evolutionarily conserved genes in the human genome that increasingly recognized as a pleiotropic and context-dependent regulator of human disorders.
Yu Ye, Yu Ye, Yu Ye, Yu Ye, Lin Zhu, Lin Zhu, Lin Zhu, Danling Wang, Danling Wang, Danling Wang, Danling Wang   +10 more
doaj   +2 more sources

Lower Striatal and Cortical Calretinin Interneuron Density Associated With Altered Social Behavior in Cntnap2 Knockout Mice. [PDF]

Autism Res
ABSTRACT Variants in the CNTNAP2 gene, encoding the cell adhesion molecule CASPR2, have been identified as genetic risk factors for autism spectrum disorder (ASD). However, the mechanisms through which CNTNAP2 dysfunction alters circuit function remain unknown.
Sáfár K, Szendi V, Hoppa P, Wang Y, Seres FÁ, Bartók S, Teadora T, Shi L, Dobolyi Á, Puska G, Adorján I.   +10 more
europepmc   +2 more sources

A Novel CNTNAP2 Mutation Results in Abnormal Neuronal E/I Balance

Frontiers in Neurology, 2021
CNTNAP2 (coding for protein Caspr2), a member of the neurexin family, plays an important role in the balance of excitatory and inhibitory post-synaptic currents (E/I balance).
Honghua Zheng, Hao Sun, Ping Lu
exaly   +3 more sources

Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2^-/^- Mice. [PDF]

Genes Brain Behav
Stress induced aggression emerges only after repeated restraint stress in Cntnap2−/− mice. Neuronal activity mapping revealed stress‐evoked activation in the lateral septum, lateral habenula, lateral hypothalamus, nucleus accumbens, and prefrontal cortex, with aggressive behavior positively correlating specifically with activity in the lateral septum ...
Hertweck CH, Carter CA, McDaniel SS, Llorach P, Tilton HE, Kodali A, Christoffel DJ, Walsh JJ.   +7 more
europepmc   +2 more sources

Third-generation whole-genome sequencing reveals the role of CNTNAP2 as a tumor suppressor gene in high-risk neuroblastomas [PDF]

Journal of Translational Medicine
Background Neuroblastoma is a common and aggressive pediatric sympathetic nervous system tumor. Genomic structural variants (SVs) contribute substantially to neuroblastoma, yet remain under-characterized in high-risk neuroblastomas. We aimed to elucidate
Yun Liu, Jing Zhao, Kaiyuan Wang, Yan Jin, Baocheng Gong, Mingyou Gao, Yuren Xia, Jie Li, Xia Zhang, Zhenyu Shi, Jie Zhang, Li Bao, Qiang Zhao   +12 more
doaj   +2 more sources

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing [PDF]

Human Genomics
The CNTNAP2 gene encodes CASPR2, a transmembrane protein essential for neuronal development and synaptic function. Biallelic pathogenic variants cause Pitt–Hopkins–like syndrome, characterized by intellectual disability, epilepsy, and autistic features ...
Jade Fauqueux, Roseline Caumes, Cindy Colson, Adeline Trauffler, Pierre Cleuziou, Caroline Thuillier, Pauline Planté-Bordeneuve, Marine Tessarech, Jamal Ghoumid, Thomas Smol   +9 more
doaj   +2 more sources

Single-nucleus RNA sequencing reveals Cntnap2+ astrocytes triggering a hypertensive effect in the rostral ventrolateral medulla by disrupting glutamate uptake [PDF]

Journal of Advanced Research
Introduction: The rostral ventrolateral medulla (RVLM) is a vital vasomotor nucleus involved in hypertension control. However, the molecular intricacies within RVLM cells, particularly in non-neuronal cell populations such as astrocytes, under ...
Shuai Zhang, Lei Tong, Zhangyan Ren, Tengteng Dai, Linping Wang, Dongfei Zhu, Haisheng Liu, Liucun Zhu, Dong Huang, Dongshu Du   +9 more
doaj   +2 more sources