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6/29/2024 10:30:35 AM | Browse: 85 | Download: 222
Publication Name World Journal of Clinical Cases
Manuscript ID 93223
Country China
Received
2024-02-22 07:00
Peer-Review Started
2024-02-22 07:00
To Make the First Decision
Return for Revision
2024-04-17 08:08
Revised
2024-04-24 13:17
Second Decision
2024-05-11 09:37
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2024-05-11 09:58
Articles in Press
2024-05-11 09:58
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2024-06-13 08:35
Publish the Manuscript Online
2024-06-29 10:30
ISSN 2307-8960 (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) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
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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 Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report
Manuscript Source Unsolicited Manuscript
All Author List Wen-Xuan Li, Li-Li Xu, Chuan-Feng Liu, Bing-Zi Dong and Yun-Yang Wang
ORCID
Author(s) ORCID Number
Li-Li Xu http://orcid.org/0009-0006-9037-7769
Funding Agency and Grant Number
Corresponding Author Li-Li Xu, PhD, Doctor, Doctor, Department of Endocrine and Metabolic Diseases, The Affiliated Hospital Of Qingdao University, No. 16 Jiangsu Road, Shinan District, Qingdao 266003, Shandong Province, China. qdfyxll@qdu.edu.cn
Key Words Diabetes; Gene mutation; Maturity-onset diabetes of the young; Peroxisome proliferator-activated receptor gamma; Lipid metabolism
Core Tip The results from the gene detection process demonstrated a heterozygous mutation of guanine (G) at position 284 in the coding region of exon 2 of peroxisome proliferator-activated receptor gamma (PPARG), which replaced the base adenine (A) (exon 2 c. 284A>G p.Tyr95Cys). This missense mutation resulted in the substitution of tyrosine with cysteine at the 95th position of the translated protein. Notably, both of the patient’s siblings harbored a nucleotide heterozygous variation at the same site, and both were diagnosed with diabetes, suggesting that the PPARG gene mutation, particularly the p.Tyr95Cys mutation, may represent a newly identified subtype of maturity-onset diabetes of the young. This subtype is characterized by insulin resistance and lipid metabolism disorders.
Publish Date 2024-06-29 10:30
Citation <p>Li WX, Xu LL, Liu CF, Dong BZ, Wang YY. Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report. <i>World J Clin Cases</i> 2024; 12(19): 3942-3949</p>
URL https://www.wjgnet.com/2307-8960/full/v12/i19/3942.htm
DOI https://dx.doi.org/10.12998/wjcc.v12.i19.3942
Full Article (PDF) WJCC-12-3942-with-cover.pdf
CARE Checklist–2016 93223-CARE-Checklist-2016.pdf
Manuscript File 93223_Auto_Edited-JLW.docx
Answering Reviewers 93223-answering-reviewers.pdf
Audio Core Tip 93223-audio.mp3
Conflict-of-Interest Disclosure Form 93223-conflict-of-interest-statement.pdf
Copyright License Agreement 93223-copyright-assignment.pdf
Signed Consent for Treatment Form(s) or Document(s) 93223-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate 93223-non-native-speakers.pdf
Peer-review Report 93223-peer-reviews.pdf
Scientific Misconduct Check 93223-scientific-misconduct-check.jpg
Scientific Editor Work List 93223-scientific-editor-work-list.pdf
CrossCheck Report 93223-crosscheck-report.pdf