Browse
Submit Data
Databases
API
Help

Dataset Information

6 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Role of the PTEN signaling pathway in autism spectrum disorder.

ABSTRACT: Autism is an etiologically heterogeneous group of neurodevelopmental disorders, diagnosed mostly by the clinical behavioral phenotypes. The concept that the tumor-related gene PTEN plays a critical role in autism spectrum disorder has emerged over the last decade. In this review, we focus on the essential role of the PTEN signaling pathway in neuronal differentiation and the formation of neural circuitry, as well as genetic mouse models with Pten manipulations. Particularly, accumulated data suggest that the effect of PTEN on neural stem-cell development contributes significantly to the pathophysiology of autism spectrum disorders.

SUBMITTER: Lv JW

PROVIDER: S-EPMC5562549 | biostudies-other | 2013 Dec

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Similar Datasets

Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder.

Project description: Not available

| S-EPMC4489960 | biostudies-literature

The Wnt Signaling Pathway and Related Therapeutic Drugs in Autism Spectrum Disorder.

Project description: Not available

| S-EPMC5953011 | biostudies-literature

Transcriptional organization of autism spectrum disorder

Project description:This SuperSeries is composed of the SubSeries listed below.

2018-02-27 | GSE111176 | GEO

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN.

Project description: Not available

| S-EPMC6783427 | biostudies-literature

Epigenome analysis of autism spectrum disorder samples

Project description:The aim of this study was to identify ASD vulnerability components, explore possible vulnerability subgroups, and evaluate environmental contribution to phenotypic variability. We performed PCA and cluster analysis using ASD risk factor data. We found that PC1 had a higher correlation with psychosocial stress (maternal stress, maternal education, and social class), and PC2 a higher correlation with biological factors (Psychiatric Family History and Gestational Complications). Clustering analysis of PCA scores using bootstrap approach showed two clusters. Comparing the methylome between clusters we found 11.879 DMPs (p<0.05), and their CpG sites were enriched in VMRs, most showing environmental and genetic influences. Hypermethylated probes presented higher rates in different regulatory regions associated with functional SNPs, indicating that the subgroups may have different affected regulatory regions and their liability to disease explained by common variations. Vulnerability score moderated by epigenetic clock was associated with Vineland Total score (p=0.0036, adjR2=0.31), suggesting risk factors with stress burden can influence phenotype.

2021-10-01 | GSE164563 | GEO

RNA-seq of 36 individuals with autism spectrum disorder

Project description:To assess the clinical impact of splice-altering noncoding mutations in autism spectrum disorder (ASD), we used a deep learning framework (SpliceAI) to predict the splice-altering potential of de novo mutations in 3,953 individuals with ASD from the Simons Simplex Collection. To validate these predictions, we selected 36 individuals that harbored predicted de-novo cryptic splice mutations; each individual represented the only case of autism within their immediate family. We obtained peripheral blood-derived lymphoblastoid cell lines (LCLs) and performed high-depth mRNA sequencing (approximately 350 million 150 bp single-end reads per sample). We used OLego to align the reads against a reference created from hg19 by substituting de novo variants of each individual with the corresponding alternate allele.

2018-11-25 | E-MTAB-7351 | biostudies-arrayexpress

Wnt signaling networks in autism spectrum disorder and intellectual disability.

Project description: Not available

| S-EPMC5137220 | biostudies-literature

Altered expression of histamine signaling genes in autism spectrum disorder.

Project description: Not available

| S-EPMC5534955 | biostudies-literature

Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder.

Project description: Not available

| S-EPMC5350147 | biostudies-literature

The Role of the Immune System in Autism Spectrum Disorder.

Project description: Not available