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Articles Published Processes
12/15/2025 9:46:11 AM | Browse: 2 | Download: 0
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Received |
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2025-08-21 05:33 |
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Peer-Review Started |
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2025-08-21 08:15 |
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First Decision by Editorial Office Director |
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2025-09-16 09:46 |
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Return for Revision |
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2025-09-16 09:46 |
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Revised |
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2025-10-10 12:44 |
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Publication Fee Transferred |
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2025-10-17 14:52 |
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Second Decision by Editor |
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2025-11-11 02:47 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2025-11-18 09:03 |
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Articles in Press |
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2025-11-18 09:03 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2025-11-25 10:14 |
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Publish the Manuscript Online |
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2025-12-15 09:46 |
| ISSN |
1948-9358 (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
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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 |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Xiao-Dan Che, Zheng-Liang Wei, Wuriliga Gong, Ling Qin, Shuang Liu, Yuan-Hui Jin and He-Yuan Wang |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Jilin Province Science and Technology Development Project |
20220203018SF |
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| Corresponding Author |
He-Yuan Wang, MD, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, No. 1, Xinmin Street, Changchun City, Changchun 130000, Jilin Province, China. wangheyuan@jlu.edu.cn |
| Key Words |
Monogenic diabetes; Genetic heterogeneity; Dual mutations; Precise diagnosis; Mutational spectrum; Case report |
| Core Tip |
This case report describes a young man with diabetes mellitus attributable to concurrent mutations in the mitochondrial MT-TL1 gene (m.3243A > G) and the CEL gene (c.1336G > A). The patient exhibited atypical features, including diabetic ketoacidosis, severe weight loss, retinopathy, and hearing loss. Whole-exome sequencing identified both mutations, each linked to distinct diabetes subtypes. The study proposes a "two-hit" mechanism in which the mitochondrial mutation compromises β-cell function, whereas the CEL mutation exacerbates insulin deficiency. These findings highlight the importance of genetic testing in diagnosing rare forms of diabetes and tailoring treatment. |
| Publish Date |
2025-12-15 09:46 |
| Citation |
Che XD, Wei ZL, Gong W, Qin L, Liu S, Jin YH, Wang HY. Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report. World J Diabetes 2025; 16(12): 113238 |
| URL |
https://www.wjgnet.com/1948-9358/full/v16/i12/113238.htm |
| DOI |
https://dx.doi.org/10.4239/wjd.v16.i12.113238 |
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