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12/30/2024 10:50:49 AM | Browse: 66 | Download: 113
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Received |
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2024-03-26 16:05 |
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2024-03-26 16:05 |
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2024-08-28 04:30 |
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Revised |
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2024-09-10 09:33 |
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Second Decision |
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2024-11-12 08:31 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2024-11-21 10:05 |
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Articles in Press |
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2024-11-21 10:05 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2024-12-20 09:00 |
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Publish the Manuscript Online |
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2024-12-30 09:47 |
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 |
Medicine, Research & Experimental |
Manuscript Type |
Basic Study |
Article Title |
Effect of SPTLC1 on Type 2 diabetes mellitus
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Bo Yi, Yan Bao and Zhong-Yuan Wen |
Funding Agency and Grant Number |
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Corresponding Author |
Bo Yi, MD, PhD, Department of Endocrinology, Renmin Hospital of Wuhan University, No. 238 Jiefang Road, Wuchang District, Wuhan 430060, Hubei Province, China. 1227yb@whu.edu.cn |
Key Words |
Apoptosis; Diabetic peripheral neuropathy; Gene mutation; Inflammation; SPTLC1; Type 2 diabetes mellitus |
Core Tip |
The single gene defects of type 2 diabetes mellitus (T2DM) with strong family history is not clear yet. We identified Serine Palmitoyltransferase Long Chain Base Subunit 1 (SPTLC1) p.G371R mutation as the likely pathogenic mutation from an adult-onset T2DM patients with strong family history. We also found that this mutation induced the expression of tumor necrosis factor-α and the percent of apoptosis in HEK 293T cells. Moreover, data from AMP T2D knowledge showed a positive correlation between rare variant gene-level associations for SPTLC1 and the risk of T2M. This study provides a novel perspective to understand the pathology of T2DM. |
Publish Date |
2024-12-30 09:47 |
Citation |
<p>Yi B, Bao Y, Wen ZY. Effect of SPTLC1 on Type 2 diabetes mellitus. <i>World J Diabetes</i> 2025; 16(2): 94861</p> |
URL |
https://www.wjgnet.com/1948-9358/full/v16/i2/94861.htm |
DOI |
https://dx.doi.org/10.4239/wjd.v16.i2.94861 |
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