Evidence map›Paper›PMID 39966435›Full record

ArticleNature communications2025

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

Rana El Masri, Alberto Iannuzzo, Paul Kuentz, Rachida Tacine, Marie Vincent, Sébastien Barbarot, Fanny Morice-Picard, Franck Boralevi, Naia Oillarburu, Juliette Mazereeuw-Hautier and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 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. Article
  2. 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.

Rana El MasriUniversité Paris Cité, CNRS, Inserm, Institut Cochin, Paris, France.
Alberto IannuzzoUniversité Paris Cité, CNRS, Inserm, Institut Cochin, Paris, France.ORCID http://orcid.org/0000-0001-8053-2362
Paul KuentzUFR des Sciences de Santé, Inserm - Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France.ORCID http://orcid.org/0000-0003-2814-6303
Rachida TacineUniversité Paris Cité, CNRS, Inserm, Institut Cochin, Paris, France.
Marie VincentUnité de Génétique clinique, Service de génétique médicale, CHU de Nantes - Hôpital Mère-Enfant, Nantes, France.ORCID http://orcid.org/0000-0003-1010-5618
Sébastien BarbarotNantes Université, Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes, France.
Fanny Morice-PicardMAGEC Reference Centre for Rare Genetic Skin Diseases, Paediatric Dermatology Unit, Department of Dermatology, CHU de Bordeaux - GH Pellegrin, Bordeaux, France.
Franck BoraleviMAGEC Reference Centre for Rare Genetic Skin Diseases, Paediatric Dermatology Unit, Department of Dermatology, CHU de Bordeaux - GH Pellegrin, Bordeaux, France.
Naia OillarburuService de dermatologie, CHU de Toulouse - Hôpital Larrey, Toulouse, France.
Juliette Mazereeuw-HautierService de dermatologie, CHU de Toulouse - Hôpital Larrey, Toulouse, France.ORCID http://orcid.org/0000-0001-6259-9790
Yannis DuffourdUFR des Sciences de Santé, Inserm - Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France.
Laurence FaivreUFR des Sciences de Santé, Inserm - Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France.ORCID http://orcid.org/0000-0001-9770-444X
Arthur SorlinUFR des Sciences de Santé, Inserm - Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France.ORCID http://orcid.org/0000-0001-8008-9145
Pierre Vabres *UFR des Sciences de Santé, Inserm - Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France. vabres@u-bourgogne.fr.
Jérôme Delon *Université Paris Cité, CNRS, Inserm, Institut Cochin, Paris, France. jerome.delon@inserm.fr.ORCID http://orcid.org/0000-0003-0222-1192

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic bases of mosaic pigmentation disorders have increasingly been identified, but these conditions remain poorly characterised, and their pathophysiology is unclear. Here, we report in four unrelated patients that a recurrent postzygotic mutation in GNA13 is responsible for a recognizable syndrome with hypomelanosis of Ito associated with developmental anomalies. GNA13 encodes Gα

Indexed as

GTP-Binding Protein alpha Subunits, G12-G13HypopigmentationMelanocytesrhoA GTP-Binding Proteinrho-Associated KinasesCell MovementChildChild, PreschoolFemaleHumansKeratinocytesMaleMosaicismMutationSignal TransductionUp-RegulationGTP-Binding Protein alpha Subunits, G12-G13rhoA GTP-Binding ProteinRHOA protein, humanrho-Associated Kinases

Identifiers

PMID39966435
PMCPMC11836271

What OpenQuestion holds

Textmetadata
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.