| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Basic Study |
| Article Title |
Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yu-Hang Weng, Yu-Feng Zheng, Dan-Dan Yin, Qing-Fang Xiong, Jin-Long Li, Shun-Xin Li, Wei Chen and Yong-Feng Yang |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
81970454 |
|
| Corresponding Author |
Yong-Feng Yang, Chief Physician, PhD, Professor, Department of Hepatology, The Second Hospital of Nanjing, The Affiliated to Nanjing University of Chinese Medicine, The Affiliated to Southeast University Medical School, No. 1 Zhongfu Road, Gulou District, Nanjing 210003, Jiangsu Province, China. yangyongfeng@njucm.edu.cn |
| Key Words |
ATP-binding cassette subfamily B member 4; Multidrug resistance protein 3; ABCB4; MDR3; Cholestasis; Functional analysis; Clinical; Gene mutation; Whole-exome sequencing |
| Core Tip |
In this study, we included patients with cholestatic liver disease, and through whole exome sequencing, we identified five patients carrying ABCB4 variants. We analyzed their clinical, pathological, and prognosis. Compound heterozygosity leads to poor prognosis. We predicted the pathogenicity of the seven variants using bioinformatics tools and further investigated the pathogenicity of missense variants in vitro. We studied the mRNA, protein content, subcellular localization, and phosphatidylcholine secretion of the variants in vitro cell models. Ultimately, we found that all missense variants were pathogenic in clinical settings and in vitro. |
| Publish Date |
2025-04-11 02:19 |
| Citation |
Weng YH, Zheng YF, Yin DD, Xiong QF, Li JL, Li SX, Chen W, Yang YF. Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults. World J Gastroenterol 2025; 31(14): 104975 |
| URL |
https://www.wjgnet.com/1007-9327/full/v31/i14/104975.htm |
| DOI |
https://dx.doi.org/10.3748/wjg.v31.i14.104975 |
