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Defining transcriptome signature consistent between cell types in blood and brain and related to the severity of Prader-Willi syndrome.

GSE261461 Homo sapiens Expression profiling by high throughput sequencing 3 samples Submitted 2026/01/27 Platform GPL24676
Summary
This study defined genetic subtype and cell type-specific gene expression changes and dysregulated pathways in the prefrontal cortex (PFC) of individuals with Prader-Willi syndrome (PWS). Genes identified to be differentially expressed consistently between all cell types of the PFC, were examined in blood with their mRNA levels related to the severity of PWS including intellectual functioning and behavioral problems. It was hypothesised that genes identified to be consistently differentially expressed across all cell types in the brain tissues examined from individuals with Prader-Willi syndrome (PWS) would be also affected in blood and with their mRNA levels related to the severity of PWS.
Published in
Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome
Shahrokhi S, Baker EK, See M et al. · Scientific reports 2025 · PMID 41444386 · doi:10.1038/s41598-025-33041-3
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Direct links to NCBI, no account and no request form: the whole study as GSE261461_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 3 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1086997 and SRA study SRP494886. Searching any of these in the dataset finder brings you back here.

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