Evidence map›Paper›PMID 41492387›Full record

ArticleiScience2025

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

Macarena Moronta Gines, Marja W Wessels, Valentina Casa, Thomas van Staveren, Amber Hof, Wendy K Chung, Marjolaine Willems, Anna Sandestig, Irina Huening, Peter Turnpenny and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

16 authors.

Macarena Moronta GinesDepartment of Cell Biology, Erasmus MC, 3015 GD Rotterdam, the Netherlands.
Marja W WesselsDepartment of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands.
Valentina CasaDepartment of Cell Biology, Erasmus MC, 3015 GD Rotterdam, the Netherlands.
Thomas van StaverenDepartment of Cell Biology, Erasmus MC, 3015 GD Rotterdam, the Netherlands.
Amber HofDepartment of Developmental Biology, Erasmus MC, 3015 GD Rotterdam, the Netherlands.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
Marjolaine WillemsGénétique Médicale, Reference Center for Constitutional Bone Diseases, CHU de MONTPELLIER, Institute for Neurosciences of Montpellier, University Montpellier, INSERM, 34295 Montpellier Cedex 05, France.
Anna SandestigClinical Department of Clinical Genetics, Region Östergötland, 581 85 Linköping, Sweden.
Irina HueningInstitute of Human Genetics, University of Lübeck, 23562 Lübeck, Germany.
Peter TurnpennyClinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK.
Mathilde LefebvreUF de Foetopathologie, CHU d'Orleans, 45067 Orleans Cedex 2, France.
Ilaria ParentiInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
Frank J KaiserInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
Jeroen DemmersDepartment of Biochemistry, Erasmus University Medical Center, 3015 GD Rotterdam, the Netherlands.
Wilfred F J van IjckenCenter for Biomics, Erasmus University Medical Center, 3015 GD, Rotterdam, the Netherlands.
Kerstin S WendtDepartment of Cell Biology, Erasmus MC, 3015 GD Rotterdam, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cohesin plays a central role in three-dimensional genome organization and transcriptional regulation, with functional diversity determined by incorporation of distinct STAG subunits. Pathogenic variants in the X-linked

Indexed as

BiochemistryBiological sciencesclinical geneticsHealth sciencesMedicinePhysiology

Identifiers

PMID41492387
PMCPMC12765388

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.