Genetics of glutamate and its receptors in autism spectrum disorder
Autism spectrum disorder (ASD) is a neurodevelopmental impairment characterized by
deficits in social interaction skills, impaired communication, and repetitive and restricted …
deficits in social interaction skills, impaired communication, and repetitive and restricted …
Synaptopathology involved in autism spectrum disorder
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …
disorders characterized by impaired social communication, social interaction and repetitive …
The role of gut bacterial metabolites in brain development, aging and disease
SMS Tran, MH Mohajeri - Nutrients, 2021 - mdpi.com
In the last decade, emerging evidence has reported correlations between the gut
microbiome and human health and disease, including those affecting the brain. We …
microbiome and human health and disease, including those affecting the brain. We …
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon… - Nature …, 2014 - nature.com
Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …
these events are typically large, and the underlying causative genes are unclear. We …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
De novo gene disruptions in children on the autistic spectrum
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors
PE Rothwell, MV Fuccillo, S Maxeiner, SJ Hayton… - Cell, 2014 - cell.com
In humans, neuroligin-3 mutations are associated with autism, whereas in mice, the
corresponding mutations produce robust synaptic and behavioral changes. However …
corresponding mutations produce robust synaptic and behavioral changes. However …
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …
disabilities has greatly informed our understanding of the molecular pathways critical for …
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
Genetic architecture in autism spectrum disorder
B Devlin, SW Scherer - Current opinion in genetics & development, 2012 - Elsevier
Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social
interaction and communication, and by restricted and repetitive behaviors. Family studies …
interaction and communication, and by restricted and repetitive behaviors. Family studies …