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Articles Published Processes
3/6/2018 1:54:10 AM | Browse: 782 | Download: 1190
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Received |
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2017-12-13 16:44 |
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Peer-Review Started |
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2017-12-13 23:46 |
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To Make the First Decision |
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2017-12-26 00:23 |
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Return for Revision |
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2017-12-27 03:12 |
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Revised |
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2017-12-31 07:30 |
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Second Decision |
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2018-01-25 09:07 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2018-02-05 01:07 |
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Articles in Press |
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2018-02-05 01:07 |
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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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2018-03-05 03:03 |
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Publish the Manuscript Online |
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2018-03-06 01:54 |
ISSN |
2220-6124 (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) 2018. Published by Baishideng Publishing Group Inc. All rights reserved. |
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 |
Urology & Nephrology |
Manuscript Type |
Basic Study |
Article Title |
Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Katarina Skalicka, Gabriela Hrčková, Anita Vaská, Ágnes Baranyaiová and László Kovács |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
Slovak Research and Development Agency under Contract |
APVV-14-0234 |
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Corresponding Author |
Katarina Skalicka, MSc, PhD, Research Scientist, Laboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children’s Hospital, Limbova 1, Bratislava 83340, Slovakia. genlab@dfnsp.sk |
Key Words |
Polycystic kidney disease; Primary cilium; Ciliary genes; Next-generation sequencing; Genetic variants |
Core Tip |
Many studies have confirmed that the loss of primary cilia promotes renal cyst formation in autosomal dominant polycystic kidney disease (ADPKD). However, these studies are based on mouse models by the inactivation of various ciliary genes, and the actual status of these genes in human ADPKD tissues is unknown. In our study, we analyzed genetic defects in ciliary genes in the human polycystic kidney tissues and matched normal kidney tissues by next-generation sequencing. We found that the loss of the primary cilia in the human ADPKD tissues may be predominantly caused by defects of centrosomal proteins and KIF19 protein. |
Publish Date |
2018-03-06 01:54 |
Citation |
Skalická K, Hrčková G, Vaská A, Baranyaiová Á, Kovács L. Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease. World J Nephrol 2018; 7(2): 65-70 |
URL |
http://www.wjgnet.com/2220-6124/full/v7/i2/65.htm |
DOI |
http://dx.doi.org/10.5527/wjn.v7.i2.65 |
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