Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4

B Rein, T Tan, F Yang, W Wang, J Williams… - Molecular …, 2021 - nature.com
Abstract The human 16p11. 2 gene locus is a hot spot for copy number variations, which
predispose carriers to a range of neuropsychiatric phenotypes. Microduplications of 16p11 …

[HTML][HTML] Rescue of neuropsychiatric phenotypes in a mouse model of 16p11. 2 duplication syndrome by genetic correction of an epilepsy network hub

MP Forrest, M Dos Santos, NH Piguel, YZ Wang… - Nature …, 2023 - nature.com
Neuropsychiatric disorders (NPDs) are frequently co-morbid with epilepsy, but the biological
basis of shared risk remains poorly understood. The 16p11. 2 duplication is a copy number …

[HTML][HTML] 16p11 duplication disrupts hippocampal-orbitofrontal-amygdala connectivity, revealing a neural circuit endophenotype for schizophrenia

GC Bristow, DM Thomson, RL Openshaw, EJ Mitchell… - Cell reports, 2020 - cell.com
Summary Chromosome 16p11. 2 duplications dramatically increase risk for schizophrenia,
but the mechanisms remain largely unknown. Here, we show that mice with an equivalent …

[HTML][HTML] Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11. 2 deletion syndrome

T Portmann, M Yang, R Mao, G Panagiotakos… - Cell reports, 2014 - cell.com
A deletion on human chromosome 16p11. 2 is associated with autism spectrum disorders.
We deleted the syntenic region on mouse chromosome 7F3. MRI and high-throughput …

Social behavior in 16p11. 2 and 22q11. 2 copy number variations: Insights from mice and humans

A Benedetti, C Molent, W Barcik… - Genes, Brain and …, 2022 - Wiley Online Library
Abstract Genetic 16p11. 2 and 22q11. 2 deletions and duplications in humans may alter
behavioral developmental trajectories increasing the risk of autism and schizophrenia …

16p11. 2 copy number variations and neurodevelopmental disorders

B Rein, Z Yan - Trends in neurosciences, 2020 - cell.com
Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Chemogenetic activation of prefrontal cortex rescues synaptic and behavioral deficits in a mouse model of 16p11. 2 deletion syndrome

W Wang, B Rein, F Zhang, T Tan, P Zhong… - Journal of …, 2018 - Soc Neuroscience
Microdeletion of the human 16p11. 2 gene locus has been linked to autism spectrum
disorder (ASD) and intellectual disability and confers risk for a number of other …

Histone deacetylase inhibition restores behavioral and synaptic function in a mouse model of 16p11. 2 deletion

W Wang, T Tan, Q Cao, F Zhang, B Rein… - International Journal …, 2022 - academic.oup.com
Background Microdeletion of the human 16p11. 2 gene locus confers risk for autism
spectrum disorders and intellectual disability. How 16p11. 2 deletion is linked to these …

[HTML][HTML] Psychiatric-disorder-related behavioral phenotypes and cortical hyperactivity in a mouse model of 3q29 deletion syndrome

M Baba, K Yokoyama, K Seiriki, Y Naka… - …, 2019 - nature.com
Abstract 3q29 microdeletion, a rare recurrent copy number variant (CNV), greatly confers an
increased risk of psychiatric disorders, such as schizophrenia and autism spectrum disorder …

[HTML][HTML] Decreased exploratory activity in a mouse model of 15q duplication syndrome; implications for disturbance of serotonin signaling

K Tamada, S Tomonaga, F Hatanaka, N Nakai… - PLoS …, 2010 - journals.plos.org
Autism spectrum disorders (ASDs) have garnered significant attention as an important
grouping of developmental brain disorders. Recent genomic studies have revealed that …