Evidence map›Paper›PMID 41444386›Full record

ArticleScientific reports2025

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.

Shokouh Shahrokhi, Emma K Baker, Michael See, Mirana Ramialison, Dinusha Gamage, Fernando J Rossello, Helen Heussler, Michael Duhig, Robert D Nicholls, Anthony J Hannan and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Single-cell analysis of adult mouse testes exposed to cigarette smoke.Journal of assisted reproduction and genetics · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Shokouh ShahrokhiDepartment of Paediatrics, University of Melbourne, Parkville, VIC, Australia.
Emma K BakerDepartment of Paediatrics, University of Melbourne, Parkville, VIC, Australia.
Michael SeeMurdoch Children's Research Institute, Parkville, VIC, Australia.
Mirana RamialisonDepartment of Paediatrics, University of Melbourne, Parkville, VIC, Australia.
Dinusha GamageMurdoch Children's Research Institute, Parkville, VIC, Australia.
Fernando J RosselloMurdoch Children's Research Institute, Parkville, VIC, Australia.
Helen HeusslerCentre for Clinical Trials in Rare Neurodevelopmental Disorders, Children's Health Queensland Hospital and Health Service, South Brisbane, Brisbane, QLD, Australia.
Michael DuhigCentre for Clinical Trials in Rare Neurodevelopmental Disorders, Children's Health Queensland Hospital and Health Service, South Brisbane, Brisbane, QLD, Australia.
Robert D NichollsDivision of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, PA, USA.
Anthony J HannanFlorey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia.
Melissa C SoutheyDepartment of Clinical Pathology, University of Melbourne, Parkville, VIC, Australia.
Olivia VeatchDepartment of Psychiatry and Behavioural Sciences, University of Kansas Medical Centre, Kansas City, KS, USA.
Waheeda HossainDepartment of Psychiatry and Behavioural Sciences, University of Kansas Medical Centre, Kansas City, KS, USA.
Minh BuiCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Carlton, VIC, Australia.
David J AmorDepartment of Paediatrics, University of Melbourne, Parkville, VIC, Australia.
Merlin G Butler *Department of Psychiatry and Behavioural Sciences, University of Kansas Medical Centre, Kansas City, KS, USA.
David E Godler *Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. david.godler@mcri.edu.au.

Funding

Research Design and Analysis Core (RDAC)P30HD002528 · NICHD · UNIVERSITY OF KANSAS LAWRENCE · PI FOWLER, STEPHEN CLETIUS · 1985 to 2015
$22.1M
Foundation for Prader-Willi Research 43445Medical Research Future Fund MRF1141334National Health and Medical Research Council 2029215National Institute of Child Health and Human Development HD02528NICHD NIH HHS P30 HD002528
6 · The paper itself

Abstract

This study defined gene expression changes across different cell types in prefrontal cortex (PFC) of donors with Prader-Willi syndrome (PWS) compared to controls and examined relationships between these changes in blood and PWS symptoms. 8,338 long non-coding RNAs and 17,079 protein-coding genes were examined using single-nucleus RNA-sequencing (snRNA-seq) in the PFC of 8 donors with PWS (4 deletion, 4 non-deletion), and 4 age- and sex-matched neurotypical controls. snRNA-seq analyses showed an increased proportion of interneurons in both PWS groups compared to controls. Fifty-four genes and related pathways were consistently dysregulated across all cell types in the PFC of the PWS group compared to controls, with RPS18 being the only protein-coding gene upregulated in PWS PFC across all comparisons. Increase in RPS18 mRNA levels in peripheral blood mononuclear cells (PBMCs) of another cohort (16 deletion, 20 non-deletion, ages 1-45 years) assessed using droplet digital PCR was found to be associated with intellectual functioning and challenging behaviors, but not autistic traits in children with PWS due to non-deletion (< 13 years old; N = 19). If confirmed in future studies, these findings may lead to development of prognostic biomarkers and therapeutics targeting consistently dysregulated genes and related pathways between brain and periphery.

Indexed as

BrainCognitionPrader-Willi SyndromeTranscriptomeAdolescentAdultCase-Control StudiesChildChild, PreschoolFemaleGene Expression ProfilingHumansInfantLeukocytes, MononuclearMaleMiddle AgedBehavioral issuesBrain transcriptomicsIntellectual functioningPrader-Willi syndromeRPS18

Identifiers

PMID41444386
PMCPMC12827965

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.