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2/24/2023 9:09:48 AM | Browse: 201 | Download: 411
Publication Name World Journal of Clinical Cases
Manuscript ID 81444
Country China
Received
2022-11-10 13:34
Peer-Review Started
2022-11-10 13:36
To Make the First Decision
Return for Revision
2022-12-13 09:56
Revised
2022-12-26 13:56
Second Decision
2023-02-07 03:31
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2023-02-07 07:05
Articles in Press
2023-02-07 07:05
Publication Fee Transferred
Edit the Manuscript by Language Editor
2023-01-13 02:41
Typeset the Manuscript
2023-02-08 08:39
Publish the Manuscript Online
2023-02-24 09:09
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) 2023. 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 Dermatology
Manuscript Type Case Report
Article Title Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report
Manuscript Source Unsolicited Manuscript
All Author List Ming-Yi Liao, Hui Peng, Long-Nian Li, Tao Yang, Shi-Yin Xiong and Xiao-Ying Ye
ORCID
Author(s) ORCID Number
Ming-Yi Liao http://orcid.org/0000-0002-9521-4348
Hui Peng http://orcid.org/0000-0002-0232-5023
Long-Nian Li http://orcid.org/0000-0002-3441-037X
Tao Yang http://orcid.org/0000-0001-5936-2901
Shi-Yin Xiong http://orcid.org/0000-0001-8499-8688
Xiao-Ying Ye http://orcid.org/0000-0002-9865-2888
Funding Agency and Grant Number
Corresponding Author Xiao-Ying Ye, Doctor, Chief Physician, Professor, Department of Dermatology, First Affiliated Hospital of Gannan Medical University, No. 23 Qingnian Road, Zhanggong District, Ganzhou 341000, Jiangxi Province, China. 13870768166@139.com
Key Words Hidrotic ectodermal dysplasia; GJB6; Connexin; Gene sequencing; Cell transfection; Case report
Core Tip We report on a Chinese family with hidrotic ectodermal dysplasia (HED), with patients in the family presenting varying degrees of hair dysplasia, nail dysplasia, and palmoplantar hyperkeratosis. In addition, we performed a literature review of other reported HED genotypes and their corresponding phenotypes, which lays a foundation for subsequent studies on these associations. Overexpression vectors of the GJB6 gene and its variants (variation sites: c.31G>A, c.263C>T, c.110T>A) were established and transfected into a HaCaT cell model. The expression changes of related mRNA and proteins before and after gene editing were obtained by real-time reverse transcriptase-polymerase chain reaction and Western blot, respectively, to provide clues for subsequent pathogenesis studies.
Publish Date 2023-02-24 09:09
Citation Liao MY, Peng H, Li LN, Yang T, Xiong SY, Ye XY. Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report. World J Clin Cases 2023; 11(6): 1403-1409
URL https://www.wjgnet.com/2307-8960/full/v11/i6/1403.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i6.1403
Full Article (PDF) WJCC-11-1403.pdf
Full Article (Word) WJCC-11-1403.docx
CARE Checklist–2016 81444-CARE-Checklist–2016-revision.pdf
Manuscript File 81444_Auto_Edited-JRF-Wang TQ-JLW.docx
Answering Reviewers 81444-Answering reviewers.pdf
Audio Core Tip 81444-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 81444-Conflict-of-interest statement.pdf
Copyright License Agreement 81444-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 81444-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 81444-Language certificate.pdf
Peer-review Report 81444-Peer-review(s).pdf
Scientific Misconduct Check 81444-Bing-Fan JR-2.png
Scientific Editor Work List 81444-Scientific editor work list.pdf
CrossCheck Report 81444-CrossCheck report.pdf
CrossCheck Report 81444-CrossCheck.png