Publication Name	World Journal of Gastroenterology
Manuscript ID	119398
Country	China

Category	Gastroenterology & Hepatology
Manuscript Type	Basic Study
Article Title	Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review
Manuscript Source	Unsolicited Manuscript
All Author List	Yu-Feng Zheng, Yu-Hang Weng, Shun-Xin Li and Yong-Feng Yang
Funding Agency and Grant Number	Funding Agency Grant Number National Natural Science Foundation of China No. 81970454
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.
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; In press

Received	2026-01-27 06:41
Peer-Review Started	2026-01-27 06:47
First Decision by Editorial Office Director	2026-02-13 08:17
Return for Revision	2026-02-13 08:17
Revised	2026-02-22 13:31
Publication Fee Transferred	2026-02-23 05:51
Second Decision by Editor	2026-03-13 02:43
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2026-03-13 07:18
Articles in Press	2026-03-13 07:18
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	1007-9327 (print) and 2219-2840 (online)
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