Evidence map›Paper›PMID 40248383›Full record

ArticleWorld journal of gastroenterology2025

Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults.

Yu-Hang Weng, Yu-Feng Zheng, Dan-Dan Yin, Qing-Fang Xiong, Jin-Long Li, Shun-Xin Li, Wei Chen, Yong-Feng Yang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of gastroenterology, 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

8 authors.

Yu-Hang WengDepartment of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Yu-Feng ZhengDepartment of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Dan-Dan YinClinical Research Center, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Qing-Fang XiongDepartment of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Jin-Long LiDepartment of Medical Laboratory, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Shun-Xin LiClinical Research Center, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Wei ChenClinical Research Center, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China.
Yong-Feng YangDepartment of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, Nanjing 210003, Jiangsu Province, China. yangyongfeng@njucm.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundATP-binding cassette subfamily B member 4 (

aimTo clarify the functional features and pathogenicity of

methodsClinical data were collected from five patients with cholestatic liver disease that was initially not detected by routine examinations. Later, whole-exome sequencing confirmed ABCB4 variants and the patients were treated from January 2017 to December 2023. Pathogenic mechanisms were analyzed using bioinformatics tools, and a cell model

resultsFive missense variants (c.1757T>A, c.1865G>A, c.2362C>T, c.2777C>T and c.3250C>T), one intron variant (c.537-32G>T), and one synonymous (c.C504T) variant were identified. Three of the five patients had various degrees of cholestasis, two presented with liver cirrhosis, and all had elevated gamma-glutamyl transferase. Three of the four patients who underwent a liver biopsy had bile duct dilation, and one had gallstones. Two of the four patients had normal and reduced MDR3 immunohistochemical levels. Bioinformatic analysis indicated that these variants were likely pathogenic except c.C504T variant. None of the missense variants influenced subcellular MDR3 Localization

conclusionThis study uncovered new

Indexed as

ATP Binding Cassette Transporter, Subfamily BCholestasisAdultExome SequencingFemaleHumansLiverMaleMiddle AgedMutation, MissenseATP Binding Cassette Transporter, Subfamily Bmultidrug resistance protein 3ATP-binding cassette subfamily B member 4CholestasisClinicalFunctional analysisGene mutationMultidrug resistance protein 3Whole-exome sequencing

Identifiers

PMID40248383
PMCPMC12001199

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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.