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Articles Published Processes
6/30/2026 1:40:16 PM | Browse: 1 | Download: 0
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Received |
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2026-01-27 06:41 |
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Peer-Review Started |
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2026-01-27 06:47 |
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First Decision by Editorial Office Director |
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2026-02-13 08:17 |
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Return for Revision |
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2026-02-13 08:17 |
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Revised |
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2026-02-22 13:31 |
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Publication Fee Transferred |
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2026-02-23 05:51 |
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Second Decision by Editor |
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2026-03-13 02:43 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2026-03-13 07:18 |
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Articles in Press |
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2026-03-13 07:18 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2026-06-15 09:26 |
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Publish the Manuscript Online |
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2026-06-30 13:40 |
| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Copyright |
©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| 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 |
Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yu-Feng Zheng, Yu-Hang Weng, Shun-Xin Li and Yong-Feng Yang |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
No. 81970454 |
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| Corresponding Author |
Yong-Feng Yang, Chief, 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 |
ABCB4; Multidrug resistance protein 3; Gene; Mutation; Variant; Sequencing; Intron; Splice; Liver |
| Core Tip |
This study focuses on two rare ABCB4 intronic variants identified in a clinic through gene sequencing. The clinical characteristics of the patients mainly were cholestasis. And the variants were predicted in silico tools which showed pathogenic. Through literature review, we found two intron variants have not been reported, and there is little research on intron variants. In vitro experiments confirmed that both variants lead to intron retention. These two variants have little effect on ABCB4 messenger RNA and both downregulate multidrug resistance protein 3 expression. Which can explain the clinical pathogenicity of the two cases. |
| Publish Date |
2026-06-30 13:40 |
| Citation |
Zheng YF, Weng YH, Li SX, Yang YF. Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review. World J Gastroenterol 2026; 32(26): 119398
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| URL |
https://www.wjgnet.com/1007-9327/full/v32/i26/119398.htm |
| DOI |
https://doi.org/10.3748/wjg.v32.i26.119398 |
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