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Publication Name World Journal of Dermatology
Manuscript ID 13266
Country Hungary
Received
2014-08-14 17:20
Peer-Review Started
2014-08-15 19:00
To Make the First Decision
2014-10-14 17:53
Return for Revision
2014-10-17 09:28
Revised
2014-11-12 20:34
Second Decision
2014-11-21 12:19
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2014-12-01 13:58
Articles in Press
2014-12-01 13:58
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2015-01-16 13:51
Publish the Manuscript Online
2015-01-20 11:05
ISSN 2218-6190 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
Copyright © The Author(s) 2015. 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 Dermatology
Manuscript Type Minireviews
Article Title Knowledge explosion for monogenic skin diseases
Manuscript Source Invited Manuscript
All Author List Nikoletta Nagy, Katalin Farkas, Lajos Kemény and Márta Széll
Funding Agency and Grant Number
Funding Agency Grant Number
National Excellence Program TÁMOP-4.2.4.A/ 2-11/1-2012-0001
Hungarian Scientific Research Fund (OTKA) PD104782 (to Nikoletta Nagy)
National Excellence Program TÁMOP-4.2.2.A-11-1-KONV-2012-0035
Corresponding Author Dr. Nikoletta Nagy, Department of Medical Genetics, University of Szeged, 4 Somogyi Béla utca, H-6720 Szeged, Hungary. nikoletta.nagy@gmail.com
Key Words Familial trichoepitheliomatosis; Familial cylindromatosis; Brooke-Spiegler syndrome; Monogenic skin diseases
Core Tip Although dermatology is a morphology-orientated specialty, genetic investigation can help understand the events taking place in the skin of the affected patients. Genetic investigation of Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma type 1 further supported the clinical hypothesis that these monogenic skin diseases are not different entities, but rather clinical variants of a disease spectrum caused by mutations in the cylindromatosis (CYLD) gene. In addition to understanding the underlying mechanisms of these allelic variants, genetic investigation can also accelerate the development of novel therapeutic modalities, such as therapy using tropomyosin-receptor-kinase specific lestaurtinib for patients with germline CYLD mutations.
Publish Date 2015-01-20 11:05
Citation Nagy N, Farkas K, Kemény L, Széll M. Knowledge explosion for monogenic skin diseases. World J Dermatol 2015; 4(1): 44-49
URL http://www.wjgnet.com/2218-6190/full/v4/i1/44.htm
DOI http://dx.doi.org/10.5314/wjd.v4.i1.44
Full Article (PDF) WJD-4-44.pdf
Full Article (Word) WJD-4-44.doc
Manuscript File 13266-Review.doc
Answering Reviewers 13266-Answering reviewers.pdf
Conflict-of-Interest Disclosure Form 13266-Conflict-of-interest statement.pdf
Copyright License Agreement 13266-Copyright assignment.pdf
Peer-review Report 13266-Peer review(s).pdf
Scientific Misconduct Check 13266-CrossCheck.jpg
Scientific Editor Work List 13266-Scientific editor work list.pdf