Publication Name	World Journal of Nephrology
Manuscript ID	37509
Country	Slovakia

Category	Urology & Nephrology
Manuscript Type	Basic Study
Article Title	Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease
Manuscript Source	Unsolicited Manuscript
All Author List	Katarina Skalicka, Gabriela Hrčková, Anita Vaská, Ágnes Baranyaiová and László Kovács
Funding Agency and Grant Number	Funding Agency Grant Number Slovak Research and Development Agency under Contract APVV-14-0234
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.
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

Received	2017-12-13 16:44
Peer-Review Started	2017-12-13 23:46
To Make the First Decision	2017-12-26 00:23
Return for Revision	2017-12-27 03:12
Revised	2017-12-31 07:30
Second Decision	2018-01-25 09:07
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2018-02-05 01:07
Articles in Press	2018-02-05 01:07
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2018-03-05 03:03

ISSN	2220-6124 (online)
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