Evidence map›Paper›PMID 40835297›Full record

ArticleJournal of medical genetics2025

Development of a functional assay for the characterisation of

Louane Despas, Lea Vialet, Maud Tusseau, Valentin Azemard, Lea Beurier-Soulat, Tala Al Tabosh, Celine Auboiroux, Antoine Parrot, Sandra Blivet, Xavier Maximin Le Guillou Horn and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2025. 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

20 authors.

Louane Despas *Biosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.ORCID http://orcid.org/0009-0001-7963-3673
Lea Vialet *Biosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.
Maud TusseauHospices Civils de Lyon, National HHT Reference Center and Genetics Department, Hospices Civils de Lyon, Bron, France.
Valentin AzemardBiosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.
Lea Beurier-SoulatBiosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.
Tala Al TaboshBiosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.
Celine AuboirouxHospices Civils de Lyon, National HHT Reference Center and Genetics Department, Hospices Civils de Lyon, Bron, France.
Antoine ParrotParis Competence Center for HHT, Hôpital Tenon, Paris, France.
Sandra BlivetBoulogne-Billancourt Competence Center for HHT, AP-HP, Boulogne-Billancourt, France.
Xavier Maximin Le Guillou HornPoitiers Competence Center for HHT, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.ORCID http://orcid.org/0000-0001-9350-8177
Gaetan LescaHospices Civils de Lyon, National HHT Reference Center and Genetics Department, Hospices Civils de Lyon, Bron, France.ORCID http://orcid.org/0000-0001-7691-9492
Fabienne DufernezCHU de Poitiers, Service de Génétique, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.
Florence CouletInserm, Team 'Microsatellite Instability and Cancer', UMRS 938, AP-HP, Paris, France.
Charlotte RichardotHospices Civils de Lyon, National HHT Reference Center and Genetics Department, Hospices Civils de Lyon, Bron, France.
Maria MaciasInstitute for Research in Biomedicine (IRB Barcelona), Baldiri Reixac 10, Institute for Research in Biomedicine, Barcelona, Spain.
Sophie GiraudHospices Civils de Lyon, National HHT Reference Center and Genetics Department, Hospices Civils de Lyon, Bron, France.
Alexandre GuilhemHospices Civils de Lyon, National HHT Reference Center and Genetics Department, Hospices Civils de Lyon, Bron, France.ORCID http://orcid.org/0000-0003-4085-8784
Sophie Dupuis-GirodBiosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.ORCID http://orcid.org/0000-0002-8834-5526
Sabine Bailly *Biosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France.
Agnes Desroches-Castan *Biosanté unit U1292, Grenoble Alpes University, INSERM, CEA, INSERM, Grenoble, France agnes.castan@inserm.fr.ORCID http://orcid.org/0000-0002-3301-9504

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) can be caused by

methods

resultsTwelve

conclusionWe developed a SMAD4 functional assay that allows discrimination between benign and pathogenic

Indexed as

Smad4 ProteinTelangiectasia, Hereditary HemorrhagicCohort StudiesFranceHumansIntestinal PolyposisMutationNeoplastic Syndromes, HereditarySignal TransductionTransforming Growth Factor beta1Smad4 ProteinSMAD4 protein, humanTransforming Growth Factor beta1Cardiovascular DiseasesGenetic Diseases, InbornHuman GeneticsMethodsMutation

Identifiers

PMID40835297
PMCPMC12703305

What OpenQuestion holds

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Registered trials

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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.