[HTML][HTML] Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder

L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

Mechanisms of synaptic transmission dysregulation in the prefrontal cortex: pathophysiological implications

Z Yan, B Rein - Molecular psychiatry, 2022 - nature.com
The prefrontal cortex (PFC) serves as the chief executive officer of the brain, controlling the
highest level cognitive and emotional processes. Its local circuits among glutamatergic …

[HTML][HTML] Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

A standardized social preference protocol for measuring social deficits in mouse models of autism

B Rein, K Ma, Z Yan - Nature protocols, 2020 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social
communication deficits and other behavioral abnormalities. The three-chamber social …

[HTML][HTML] Social circuits and their dysfunction in autism spectrum disorder

M Sato, N Nakai, S Fujima, KY Choe, T Takumi - Molecular Psychiatry, 2023 - nature.com
Social behaviors, how individuals act cooperatively and competitively with conspecifics, are
widely seen across species. Rodents display various social behaviors, and many different …

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 …

[HTML][HTML] Genetic and epigenetic etiology underlying autism spectrum disorder

SH Yoon, J Choi, WJ Lee, JT Do - Journal of clinical medicine, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized
by difficulties in social interaction, language development delays, repeated body …

[HTML][HTML] Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

JP Delling, TM Boeckers - Journal of Neurodevelopmental Disorders, 2021 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …