Evidence map›Paper›PMID 40508041›Full record

ArticleInternational journal of molecular sciences2025

Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.

Martine Lapalus, Elodie Mareux, Rachida Amzal, Emmanuelle Drège, Yosra Riahi, Sylvain Petit, Manon Banet, Thomas Falguières, Isabelle Callebaut, Bruno Figadère and 3 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

13 authors.

Martine LapalusUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0000-0002-7033-831X
Elodie MareuxUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0000-0002-0474-9217
Rachida AmzalUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.
Emmanuelle DrègeUniversité Paris-Saclay, CNRS, BioCIS, 91400 Orsay, France.ORCID 0000-0003-1995-2696
Yosra RiahiUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0009-0001-8210-166X
Sylvain PetitUniversité Paris-Saclay, CNRS, BioCIS, 91400 Orsay, France.
Manon BanetUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0009-0004-3042-4776
Thomas FalguièresUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0000-0003-2867-0500
Isabelle CallebautSorbonne Université, Muséum National d'Histoire Naturelle, CNRS, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie (IMPMC), 75005 Paris, France.ORCID 0000-0003-3124-887X
Bruno FigadèreUniversité Paris-Saclay, CNRS, BioCIS, 91400 Orsay, France.ORCID 0000-0003-4226-8489
Delphine JosephUniversité Paris-Saclay, CNRS, BioCIS, 91400 Orsay, France.
Emmanuel GonzalesUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0000-0002-1546-3193
Emmanuel JacqueminUniversité Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.ORCID 0000-0002-7536-6272

Funding

Agence Nationale de la Recherche ANR-21-CE18-0030-01Association Maladies du Foie depuis l'Enfance, AMFE, Malakoff, France Not applicableAssociation pour la Recherche en Hépatologie Pédiatrique, CHU Bicêtre, France Not applicableFilière de santé des maladies rares du foie (FILFOIE), Paris, France Not applicableIpsen (France) Not applicableMinistère de l'Enseignement Supérieur, de la Recherche et de l'Innovation Français Not applicable
6 · The paper itself

Abstract

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe hepatocellular cholestasis due to biallelic variations in the

Indexed as

ATP Binding Cassette Transporter, Subfamily B, Member 11Cholestasis, IntrahepaticMutation, MissenseAnimalsDogsHumansPhenylbutyratesProtein Transport4-phenylbutyric acidABCB11 protein, humanATP Binding Cassette Transporter, Subfamily B, Member 11Phenylbutyrates4-phenylbutyrateABC transporterBSEPmissense variationpharmacological correctors

Identifiers

PMID40508041
PMCPMC12154090

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.