Structure, function, and pharmacology of glutamate receptor ion channels
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
[HTML][HTML] NMR spectroscopy for metabolomics research
Over the past two decades, nuclear magnetic resonance (NMR) has emerged as one of the
three principal analytical techniques used in metabolomics (the other two being gas …
three principal analytical techniques used in metabolomics (the other two being gas …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
Pathway enrichment analysis and visualization of omics data using g: Profiler, GSEA, Cytoscape and EnrichmentMap
Pathway enrichment analysis helps researchers gain mechanistic insight into gene lists
generated from genome-scale (omics) experiments. This method identifies biological …
generated from genome-scale (omics) experiments. This method identifies biological …
[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 …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
[HTML][HTML] Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental …
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes …
between genetic and environmental factors. On the one hand, hundreds of genes …
[HTML][HTML] An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity
E Masini, E Loi, AF Vega-Benedetti, M Carta… - International journal of …, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …
[HTML][HTML] The autism spectrum: behavioral, psychiatric and genetic associations
A Genovese, MG Butler - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …
neurobehavioral disorders associated with developmental impairments in social …