Evidence map›Paper›PMID 41993931›Full record

ArticleFrontiers in genetics2026

Functional inactivation of MDR3 caused by a homozygous

Sophia Heinrich, Annika Behrendt, Malte Sgodda, Holger Gohlke, Bernd Auber, Amelie Stalke, Björn Hartleben, Heiner Wedemeyer, Tobias Cantz, Richard Taubert

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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

10 authors.

Sophia HeinrichDepartment of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.
Annika BehrendtInstitute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Malte SgoddaDepartment of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.
Holger GohlkeInstitute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Bernd AuberDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Amelie StalkeDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Björn HartlebenInstitute for Pathology, Hannover Medical School, Hannover, Germany.
Heiner WedemeyerDepartment of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.
Tobias CantzDepartment of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.
Richard TaubertDepartment of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a rare hereditary liver disorder that is caused by defective hepatobiliary transport. Variants in ATP binding cassette 4 ( ), encoding phosphatidylcholine floppase MDR3, are a frequent cause; however, many remain classified as variants of uncertain significance (VUS), limiting molecular diagnosis. Here, we functionally characterized a previously reported homozygous

Indexed as

ABCB4functional variant reclassificationMDR3 deficiencyprogressive familial intrahepatic cholestasisvariant of uncertain significance

Identifiers

PMID41993931
PMCPMC13082754

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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.