Evidence map›Paper›PMID 41168328›Full record

ArticleScientific reports2025

In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.

Felix Franke, Semih Ertürk, Johann G Maass, Dominik Kamionek, Tim Schubert, Claudia Pitzer, Susanne Theiß, Christine Fischer, Rachel B Gilmore, Eva Dwornicki and 4 more

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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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Felix FrankeInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Semih ErtürkInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Johann G MaassInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Dominik KamionekInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Tim SchubertInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Claudia PitzerInterdisciplinary Neurobehavioral Core, Heidelberg University, Heidelberg, Germany.
Susanne TheißInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Christine FischerInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Rachel B GilmoreInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Eva DwornickiInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Colleen R BockeDepartment of Pharmacology and Physiology, Saint Louis University School of Medicine, Saint Louis, MO, USA.
Gina L C YostenDepartment of Pharmacology and Physiology, Saint Louis University School of Medicine, Saint Louis, MO, USA.
Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Ferdinand AlthammerInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany. ferdinand.althammer@med.uni-heidelberg.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Schaaf-Yang syndrome (SYS, OMIM #615547) is a rare neurodevelopmental disorder caused by truncating variants in the maternally imprinted MAGEL2 gene. It is characterized by intellectual disability, autism spectrum disorder, joint contractures, and feeding difficulties. Although MAGEL2 is deleted in most cases of Prader-Willi syndrome (PWS, OMIM #176270), SYS presents with more severe symptoms, suggesting pathogenic effects of truncated MAGEL2 beyond a mere loss of function. This study expands the behavioral characterization of a novel rat model ("Magel2

Indexed as

Behavior, AnimalIntellectual DisabilityProteinsAnimalsChromosome DisordersDevelopmental DisabilitiesDisease Models, AnimalFaciesFeeding BehaviorHypopituitarismImprinting DisordersMaleMutationPhenotypeRatsSocial BehaviorProteinsSchaaf-Yang syndrome

Identifiers

PMID41168328
PMCPMC12575713

What Socratic holds

Textmetadata
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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 Socratic graph.