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2/27/2017 8:49:00 AM | Browse: 394 | Download: 338
Publication Name World Journal of Medical Genetics
Manuscript ID 30527
Country/Territory Italy
2016-10-07 15:08
Peer-Review Started
2016-10-07 17:32
To Make the First Decision
2016-11-11 09:35
Return for Revision
2016-11-15 17:54
2016-12-19 23:08
Second Decision
2017-02-08 15:29
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2017-02-21 10:37
Articles in Press
2017-02-21 10:37
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2017-02-24 09:34
Publish the Manuscript Online
2017-02-27 08:49
ISSN 2220-3184 (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) 2017. 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 Genetics and Heredity
Manuscript Type Editorial
Article Title New era of cystic fibrosis: Full mutational analysis and personalized therapy
Manuscript Source Invited Manuscript
All Author List Marco Lucarelli
Funding Agency and Grant Number
Corresponding author Marco Lucarelli, Associate Professor, BS Specialist in Clinical Pathology, Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Laboratory affiliated to Istituto Pasteur Italia - Fondazione Cenci Bolognetti, Viale Regina Elena 324, 00161 Rome, Italy. marco.lucarelli@uniroma1.it
Keywords Genotype - phenotype relationship; CFTR; Cystic fibrosis; Next generation sequencing; Functional meaning of mutations; Personalized therapy; Mutation search; Mutation functional classes
Core Tip Cystic fibrosis (CF) is the most common severe monogenic disease of Caucasian population. Despite its apparently simple genetics, it has a complex genotype - phenotype relationship. This is mainly due to the high number of mutations of the causing gene (the CFTR) and to the complexity of the CFTR cellular network. The next generation sequencing approach allows a full genetic characterization of the CFTR and CFTR network improving our diagnostic, prognostic and therapeutic ability. This is coupled to the availability of drugs acting on specific mutational classes. The synergy between massive sequencing and personalized therapy is expected to produce an unparalleled advantage for CF patients.
Publish Date 2017-02-27 08:49
Citation Lucarelli M. new era of cystic fibrosis: Full mutational analysis and personalized therapy. World J Med Genet 2017; 7(1): 1-9
Url http://www.wjgnet.com/2220-3184/full/v7/i1/1.htm
DOI http://dx.doi.org/10.5496/wjmg.v7.i1.1
Full Article (PDF) WJMG-7-1.pdf
Full Article (Word) WJMG-7-1.doc
Manuscript File 30527-Review.docx
Answering Reviewers 30527-Answering reviewers.pdf
Audio Core Tip 30527-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 30527-Conflict-of-interest statement.pdf
Copyright License Agreement 30527-Copyright assignment.PDF
Peer-review Report 30527-Peer-review(s).pdf
Scientific Misconduct Check 30527-Scientific misconduct check.pdf
Scientific Editor Work List 30527-Scientific editor work list.pdf