Evidence map›Paper›PMID 41624255›Full record

ArticleJID innovations : skin science from molecules to population health2026

A standardized approach to test missense

Nuria Pell, Pauline Bernard, Séverine Courrech, Lukas Opalka, Aina Millán-Sánchez, Elise Levy, Séverine Garnier, Cyrielle Clément, Pauline Le Faouder, Katerina Vávrová and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JID innovations : skin science from molecules to population health, 2026. 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
–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

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

18 authors.

Nuria PellToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Pauline BernardToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Séverine CourrechToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Lukas OpalkaFaculty of Pharmacy, Charles University, Hradec Králové, Czech Republic.
Aina Millán-SánchezInstitute for Advanced Chemistry of Catalonia (IQAC-CSIC), Barcelona, Spain.
Elise LevyToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Séverine GarnierToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Cyrielle ClémentMetaboHUB-MetaToul, National Infrastructure of Metabolomics and Fluxomics, Toulouse, France.
Pauline Le FaouderMetaboHUB-MetaToul, National Infrastructure of Metabolomics and Fluxomics, Toulouse, France.
Katerina VávrováFaculty of Pharmacy, Charles University, Hradec Králové, Czech Republic.
Olga LópezInstitute for Advanced Chemistry of Catalonia (IQAC-CSIC), Barcelona, Spain.
Justine Bertrand-MichelMetaboHUB-MetaToul, National Infrastructure of Metabolomics and Fluxomics, Toulouse, France.
Corinne LeprinceToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Isabelle FourquauxCentre de Microscopie Electronique Appliquée à la Biologie, Toulouse University, Toulouse, France.
José-Enrique MejiaToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Jean-Christophe PagèsPEFAVar and Department of Cell Biology and Cytology, Federative Institute of Biology, Purpan Hospital, University Hospital, Toulouse, France.
Juliette Mazereeuw-HautierToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.
Nathalie JoncaToulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital ichthyoses, now renamed epidermal differentiation disorders (EDDs) (syndromic EDD or nonsyndromic EDD), are rare, disabling conditions caused by sequence variations in epidermal barrier genes. However, 5-10% of variants, called "variants of uncertain significance" (VUS), remain uncharacterized, and their pathogenicity is not demonstrated. We developed an approach for classifying VUS in nonsyndromic EDD associated with variant in

Indexed as

Functional geneticsGenodermatosisHuman epidermal equivalentsIchthyosisSkin barrier

Identifiers

PMID41624255
PMCPMC12860348

What OpenQuestion holds

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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.