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Articles Published Processes
2/27/2017 8:49:00 AM | Browse: 1173 | Download: 1323
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Received |
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2016-10-07 15:08 |
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Peer-Review Started |
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2016-10-07 17:32 |
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To Make the First Decision |
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2016-11-11 09:35 |
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Return for Revision |
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2016-11-15 17:54 |
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Revised |
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2016-12-19 23:08 |
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Second Decision |
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2017-02-08 15:29 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2017-02-21 10:37 |
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Articles in Press |
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2017-02-21 10:37 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2017-02-24 09:34 |
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Publish the Manuscript Online |
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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.
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Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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 |
Genetics & Heredity |
Manuscript Type |
Editorial |
Article Title |
New era of cystic fibrosis: Full mutational analysis and personalized therapy
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Manuscript Source |
Invited Manuscript |
All Author List |
Marco Lucarelli |
Funding Agency and Grant Number |
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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 |
Key Words |
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 |
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