Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

PTEN controls alternative splicing of autism spectrum disorder-associated transcripts in primary neurons

ABSTRACT: PTEN controls alternative splicing of autism spectrum disorder-associated transcripts in primary neurons

PROVIDER: PRJNA758573 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

PTEN controls alternative splicing of autism spectrum disorder-associated transcripts in primary neurons

Project description:Purpose: To identify alternative splicing events in primary Pten-/- neurons as a model for autism spectrum disorder (ASD). Methods: RNA isolation from DIV14 control and cre-mediated Pten-/- primary cortical neuronal, glia-depleted cultures. PE RNA-Seq using Illumina4000 system. Identification of alternatively spliced transcripts in Pten-/- cultures using rMATS and iREAD. Results: More than 900 alternative splicing events were identified in Pten-/- neurons. These are largely related to synaptic and gene expression regulatory processes. Importantly, more than 80 additional autism-associated risk genes were affected upon Pten loss. Conclusion: PTEN-ASD seems to display a multifactorial condition rather than a monogenetic disorder.

2025-08-16 | GSE182975 | GEO

Transcriptional organization of autism spectrum disorder

Project description:Transcriptional organization of autism spectrum disorder

| PRJNA436104 | ENA

Epigenome analysis of autism spectrum disorder samples

Project description:Epigenome analysis of autism spectrum disorder samples

| PRJNA691213 | ENA

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

Gene expression in blood of children with autism spectrum disorder

2008-06-26 | GSE6575 | GEO

PTEN variant and genetic backgrounds combine to modify cerebellar neuronal differentiation in autism spectrum disorder

Project description:PTEN variant and genetic backgrounds combine to modify cerebellar neuronal differentiation in autism spectrum disorder

| PRJNA1366430 | ENA

PTEN variant and genetic backgrounds combine to modify cerebellar neuronal differentiation in autism spectrum disorder

Project description:Mutations in the PTEN gene have been implicated in autism spectrum disorders (ASD), particularly among individuals with comorbid macrocephaly. In our previous study, we demonstrated that the PTEN p.Ile135Leu variant, in an ASD-related genetic background dependent fashion, disrupts both cortical neurogenesis and gliogenesis. While abnormal cerebellar development is a recognized feature of ASD, the specific cellular targets and timing of disruptions during cerebellar differentiation and development remain poorly understood. To investigate these aspects, we applied our previously established cerebellar organoid protocol and used isogenic human iPSC lines harboring this PTEN-variant. We examined the expression of Purkinje cells, granule cells, interneurons, and glial cells prior to 22 weeks of differentiation, assessed genes expression at 8 weeks, and evaluated spontaneous spikes activity in Purkinje cells after 11 weeks. We observed that cell-type-specific expression patterns differed between the PTEN p.Ile135Leu variant in control versus ASD-genetic backgrounds. However, these background differences were diminished in PTEN knockout lines across both backgrounds. Our single-cell RNA sequencing (scRNA-seq) dataset revealed that the PTEN p.Ile135Leu variant increased the number of interneuron progenitor cells, whereas PTEN knockout led to an expansion of meningeal-like cells in both genetic contexts. Moreover, both the PTEN p.Ile135Leu variant and PTEN knockout abolished spontaneous simple spikes activity in Purkinje cells across both backgrounds, including PTEN-corrected patient-derived lines. Together, these findings provide direct evidence linking PTEN dysfunction and genetic background to altered cerebellar differentiation and neuronal network activity in human cerebellar organoids.

2026-01-01 | GSE310490 | GEO

Transcription profiling of human blood from children with autism spectrum disorder

Project description:Gene expression in blood of children with autism spectrum disorder (ASD) was studied. Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD). Experiment Overall Design: Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD)

2008-10-18 | E-GEOD-6575 | biostudies-arrayexpress

MicroRNA biomarkers in blood for Autism spectrum disorder

Project description:Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. MicroRNAs (miRNAs) have been recently recognized as potential biomarkers of ASD as they are dysregulated in various tissues of individuals with ASD. However, it remains unclear whether miRNA expression is altered in individuals with high-functioning ASD. Here, we investigated the miRNA expression profile in peripheral blood from adults with high-functioning ASD, and age and gender-matched healthy controls. Our findings may provide insights regarding the molecular clues for recognizing high-functioning ASD.

2020-05-03 | GSE89596 | GEO

Affymetrix CytoScan HD for autism spectrum disorder in children

Project description:Affymetrix CytoScan HD for autism spectrum disorder in children

| PRJNA472953 | ENA