BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
1/18/2024 9:11:51 AM | Browse: 384 | Download: 1632
 |
Received |
|
2023-10-31 15:33 |
|
Peer-Review Started |
|
2023-10-31 15:34 |
|
First Decision by Editorial Office Director |
|
2023-11-28 07:44 |
|
Return for Revision |
|
2023-11-28 07:44 |
|
Revised |
|
2023-12-12 19:54 |
 |
Publication Fee Transferred |
|
|
|
Second Decision by Editor |
|
2024-01-04 02:49 |
|
Second Decision by Editor-in-Chief |
|
|
|
Final Decision by Editorial Office Director |
|
2024-01-04 08:37 |
|
Articles in Press |
|
2024-01-04 08:37 |
|
Edit the Manuscript by Language Editor |
|
|
|
Typeset the Manuscript |
|
2024-01-11 02:29 |
|
Publish the Manuscript Online |
|
2024-01-18 09:11 |
| 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. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Clinical Neurology |
| Manuscript Type |
Observational Study |
| Article Title |
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Wiem Manoubi, Marwa Mahdouani, Dorra Hmida, Ameni Kdissa, Aida Rouissi, Ilhem Turki, Neji Gueddiche, Najla Soyah, Ali Saad, Christian Bouwkamp, Ype Elgersma, Soumaya Mougou-Zerelli and Moez Gribaa |
| ORCID |
|
| Funding Agency and Grant Number |
|
| Corresponding Author |
Wiem Manoubi, BSc, Research Scientist, Researcher, Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn El Jazzar, Sousse 4000, Tunisia. wiem.manoubi@yahoo.fr |
| Key Words |
Angelman syndrome; Ubiquitin-Protein ligase E3A; Exome; Consanguinity; Polymorphism |
| Core Tip |
Angelman syndrome (AS) is caused by maternal chromosome 15q11q13 deletions, imprinting defects, paternal uniparental disomy 15, and ubiquitin-protein ligase E3A (UBE3A) gene mutations. UBE3A is a brain-specific imprinting gene that encodes a ubiquitin-protein ligase. Here, we describe the variants in the UBE3A coding region detected by sequencing analysis in 50 AS Tunisian individuals with a normal bi-parental inheritance and methylation pattern of 15q11q13. Seven polymorphisms were found in our patients, including three novel variants. To identify bi-allelic recessive mutations that give rise to AS-like phenotypes, we considered consanguineous families, as they are more likely to develop such a recessive disease. |
| Publish Date |
2024-01-18 09:11 |
| Citation |
Manoubi W, Mahdouani M, Hmida D, Kdissa A, Rouissi A, Turki I, Gueddiche N, Soyah N, Saad A, Bouwkamp C, Elgersma Y, Mougou-Zerelli S, Gribaa M. Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome. World J Clin Cases 2024; 12(3): 503-516
|
| URL |
https://www.wjgnet.com/2307-8960/full/v12/i3/503.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v12.i3.503 |
Copyright © 1993-2026 Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA. All rights reserved, including rights relating to text and data mining, AI training, and similar technologies. For open-access content, the applicable copyright and licensing terms govern.
