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Cover Page

The handle https://hdl.handle.net/1887/3158169 holds various files of this Leiden University dissertation.

Author: Malas, T.

Title: Data-driven knowledge discovery in polycystic kidney disease Issue Date: 2021-03-30

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Data-driven knowledge discovery in polycystic kidney disease Tareq Malas

Leiden University Medical Center, The Netherlands

ISBN: 978-94-6423-160-1 Layout & design: Tareq Malas

Printing: ProefschriftMaken www. proefschriftmaken.nl © 2021, Tareq Malas. Copyright of the published material in chapters 2-5 lies with the publisher of the journal listed at the beginning of each chapter. All rights reserved. No part of this thesis may be reprinted, reproduced or utilized in any form by electronic, mechanical, or other means now known or hereafter invented, including photocopying and recording in any

information storage or retrieval system without prior written permission of the author

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Proefschrift

ter verkrijging van

de graad van doctor aan de Universiteit Leiden, op gezag van rector magnificus prof.dr.ir. H. Bijl,

volgens besluit van het college voor promoties te verdedigen op dinsdag 30 maart 2021

klokke 11:15 uur

door

Tareq Malas

geboren in Damascus, Syrië in 1987

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1. Faculty of Health, Medicine and Life Sciences, Maastricht University 2. Department of Biomedical Science, University of Sheffield

Promotores:

Prof. Dr. D.J.M. Peters Prof. Dr. P.A.C. ‘t Hoen

Promotiecommissie:

Prof. dr. ir. J.A.P. Willems van Dijk Prof. dr. I. Meulenbelt

Prof. dr.ir. C.T.A. Evelo1

Dr. F. van Eeden2

The studies described in this thesis have been performed at the

Department of Human Genetics, Leiden University Medical Center, the Netherlands.

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Table of Contents

Chapter 1 General Introduction

Chapter 2 Meta-analysis of Polycystic Kidney Disease Expression Profiles Defines Strong

Involvement of Injury Repair Processes Chapter 3 Characterization of Transcription Factor

Profiles In Polycystic Kidney Disease (PKD): Identification and Validation of STAT3 And RUNX1 in the Injury/Repair Response and PKD Progression

Chapter 4 Prioritization of Novel ADPKD Drug Candidates from Disease Stage Specific Gene Expression Profiles

Chapter 5 Drug Repurposing Using a Semantic Knowledge Graph Chapter 6 Discussion Appendix Appendices Nederlandse samenvatting English summary Curriculum vitae List of publications Acknowledgments 24 7 37 52 64 73 81 82 84 87 89 86 7 27 43 61 75 87 97 99 101 103 104 106

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