Evidence map›Paper›PMID 40600289›Full record

ArticleDevelopmental dynamics : an official publication of the American Association of Anatomists2026

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model.

Gamze Akarsu, Katja R MacCharles, Kenneth Kin Lam Wong, Joy M Richman, Esther M Verheyen

Abstract read
In one paragraph

Article in Developmental dynamics : an official publication of the American Association of Anatomists, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Editorial highlights.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Article
  2. Article
  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

5 authors.

Gamze AkarsuDepartment of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.
Katja R MacCharlesDepartment of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.
Kenneth Kin Lam WongDepartment of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.
Joy M RichmanLife Sciences Institute and Faculty of Dentistry, University of British Columbia, Vancouver, British Columbia, Canada.ORCID https://orcid.org/0000-0002-1409-8163
Esther M VerheyenDepartment of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.ORCID https://orcid.org/0000-0002-9795-5094

Funding

Resource Component: Acquisition, maintenance and distribution of Drosophila stocksP40OD018537 · OD · TRUSTEES OF INDIANA UNIVERSITY · PI Annette L. Parks · 2014 to 2026
$13.5M
Canadian Institutes for Health Research PJT-166182(JMR&EMV)Natural Sciences and Engineering Research Council of Canada RGPIN/2014-05479NIH HHS P40 OD018537
6 · The paper itself

Abstract

backgroundRobinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non-canonical Wnt signaling.

resultsIn this study, we further examine morphological changes that occur due to expression of DVL1

conclusionsThrough these studies, we have gained more insight into the developmental consequences of DVL1 variants implicated in autosomal dominant Robinow syndrome.

Indexed as

Craniofacial AbnormalitiesDishevelled ProteinsDrosophila ProteinsDwarfismLimb Deformities, CongenitalMorphogenesisUrogenital AbnormalitiesAnimalsDisease Models, AnimalDrosophilaDrosophila melanogasterExtremitiesHumansImaginal DiscsWings, AnimalWnt Signaling PathwayDishevelled ProteinsDrosophila ProteinsDVL1 protein, humanappendage formationdishevelledimaginal discsWnt signaling

Identifiers

PMID40600289
PMCPMC13353706

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LicenceCC BY-NC-ND
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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.