Evidence map›Paper›PMID 38760592›Full record

ArticleJournal of anatomy2024

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Isaac S Walton, Emma McCann, Astrid Weber, Jenny E V Morton, Peter Noons, Louise C Wilson, Rosanna C Ching, Deirdre Cilliers, David Johnson, Julie M Phipps and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of anatomy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. Review
  3. 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

15 authors.

Isaac S WaltonMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID 0000-0001-9711-7595
Emma McCannDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.
Astrid WeberDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.
Jenny E V MortonWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
Peter NoonsBirmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
Louise C WilsonClinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Rosanna C ChingOxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Deirdre CilliersOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
David JohnsonOxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Julie M PhippsOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Deborah J ShearsOxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Gregory P L ThomasOxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.ORCID 0000-0003-3122-3939
Steven A WallOxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Stephen R F TwiggMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID 0000-0001-5024-049X
Andrew O M WilkieMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID 0000-0002-2972-5481

Funding

Clarendon FundMedical Research Council MR/N013468/1NIHR Oxford Biomedical Research CentreRadcliffe Department of Medicine, University of OxfordSomerville College, University of OxfordVTCT FoundationWellcome TrustWellcome Trust 102731
6 · The paper itself

Abstract

The RUNT-related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT-related family, vertebrate RUNX2 encodes a polyglutamine/polyalanine repeat (Gln

Indexed as

Core Binding Factor Alpha 1 SubunitCraniosynostosesGene FrequencyHumansMalePeptidesSequence DeletionCore Binding Factor Alpha 1 SubunitPeptidespolyalanineRUNX2 protein, humancraniosynostosisgenetic associationmetopic synostosispolyalanineRUNX2sagittal synostosis

Identifiers

PMID38760592
PMCPMC11547237

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.