Development and disease of the renal tract

Livrables

Final RENALTRACT event, organised by the ESRs and largely open. To be held during the last month of presence of all ESRs, i.e between months 40 and 42 most probably.

Two “Young Researcher Training Workshops”

Dissemination & training events to be held on months 8 and 20

Positions’ advertisement

ESRs position largely advertised on various channels.

Outreach activities

Dissemination, public contact, communication to be implemented by the ESRs.

Mid-term review Meeting

Compulsory Deliverable

List of RTM-related peptide biomarkers in urine

Screen for biomarkers

Award of doctoral degrees

Expected 36 months after the ESRs recruitment, by the end of the project at the latest.

Establishment of bioinformatic model of kidney development

Integration of information on developmental network components; validation by genotype-phenotype pre-diction testing.

Characterization of the regulatory network required for the different steps of the ureteric myogenic program

Analysis and compilation of NGS data.

Phenotypic characterisation of urofacial syndrome mutant mouse renal tracts and hindguts

Molecular and electrophysiological characterrisation of mutant mice.

List of genes involved in regulation of nephrogenesis induction

Model genes depicted from the microarayed renal genes

Supervisory Board of Network

compulsory deliverable

Identification of target genes of Tgfrb-, Pdgfra and/or retinoic acid-signalling in the ureter

Microarray and expression analysis

List of novel genetic vari-ants causing maldevelopment of human lower urinary tract

Collation of information from human genetic studies.

Functional characterisation of novel genes for kidney and ureter development

List of novel genes for kidney and ureter development

Characterization of the regulatory network required for the progression of the ureteric myogenic program

Combined molecular and genetic approaches.

Role of pax8 targets in the Xenopus kidney

Functionnal analysis of pax8 target genes

Periodic report

compulsory deliverable

Phenotypic characterisation of Phf19 knockout mice

Mice carrying Phf19 mutations will be characterized

Screen and metabolomics analysis for genes for nephrolithiasis and IEM diseases

Novel genes for nephrolithiasis and IEM diseases.

Progress Report

Compulsory deliverable

In vivo functional characterisation of selected miRNAs and the identification of mRNA-feedback loops

miRNA/mRNA transcriptomics & functional assays achieved.

Ethics

compulsory deliverable

Publications

Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases

Auteurs: Pedro Magalhães, Harald Mischak, Petra Zürbig
Publié dans: Current Opinion in Nephrology and Hypertension, Numéro 25/6, 2016, Page(s) 494-501, ISSN 1062-4821
Éditeur: Lippincott Williams & Wilkins Ltd.
DOI: 10.1097/MNH.0000000000000278

Urinary biomarkers for renal tract malformations

Auteurs: Pedro Magalhães, Joost P. Schanstra, Emma Carrick, Harald Mischak, Petra Zürbig
Publié dans: Expert Review of Proteomics, Numéro 13/12, 2016, Page(s) 1121-1129, ISSN 1478-9450
Éditeur: Future Drugs Ltd.
DOI: 10.1080/14789450.2016.1254555

Urinary proteome signature of Renal Cysts and Diabetes syndrome in children

Auteurs: Pierbruno Ricci, Pedro Magalhães, Magdalena Krochmal, Martin Pejchinovski, Erica Daina, Maria Rosa Caruso, Laura Goea, Iwona Belczacka, Giuseppe Remuzzi, Muriel Umbhauer, Jens Drube, Lars Pape, Harald Mischak, Stéphane Decramer, Franz Schaefer, Joost P. Schanstra, Silvia Cereghini, Petra Zürbig
Publié dans: Scientific Reports, Numéro 9/1, 2019, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-019-38713-5

A Smart Imaging Workflow for Organ-Specific Screening in a Cystic Kidney Zebrafish Disease Model

Auteurs: Gunjan Pandey, Jens Westhoff, Franz Schaefer, Jochen Gehrig
Publié dans: International Journal of Molecular Sciences, Numéro 20/6, 2019, Page(s) 1290, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms20061290

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)

Auteurs: Yasmine Neirijnck, Antoine Reginensi, Kirsten Y. Renkema, Filippo Massa, Vladimir M. Kozlov, Haroun Dhib, Ernie M.H.F. Bongers, Wout F. Feitz, Albertien M. van Eerde, Veronique Lefebvre, Nine V.A.M. Knoers, Mansoureh Tabatabaei, Herbert Schulz, Helen McNeill, Franz Schaefer, Michael Wegner, Elisabeth Sock, Andreas Schedl
Publié dans: Kidney International, Numéro 93/5, 2018, Page(s) 1142-1153, ISSN 0085-2538
Éditeur: Blackwell Publishing Inc.
DOI: 10.1016/j.kint.2017.11.026

Embryonic Stem Cells Derived Kidney Organoids as Faithful Models to Target Programmed Nephrogenesis

Auteurs: Zenglai Tan, Jingdong Shan, Aleksandra Rak-Raszewska, Seppo J. Vainio
Publié dans: Scientific Reports, Numéro 8/1, 2018, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-018-34995-3

Urinary peptidomics analysis reveals proteases involved in diabetic nephropathy

Auteurs: Magdalena Krochmal, Georgia Kontostathi, Pedro Magalhães, Manousos Makridakis, Julie Klein, Holger Husi, Johannes Leierer, Gert Mayer, Jean-Loup Bascands, Colette Denis, Jerome Zoidakis, Petra Zürbig, Christian Delles, Joost P. Schanstra, Harald Mischak, Antonia Vlahou
Publié dans: Scientific Reports, Numéro 7/1, 2017, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-017-15359-9

Comparison of Urine and Plasma Peptidome Indicates Selectivity in Renal Peptide Handling

Auteurs: Pedro Magalhães, Claudia Pontillo, Martin Pejchinovski, Justyna Siwy, Magdalena Krochmal, Manousos Makridakis, Emma Carrick, Julie Klein, William Mullen, Joachim Jankowski, Antonia Vlahou, Harald Mischak, Joost P. Schanstra, Petra Zürbig, Lars Pape
Publié dans: PROTEOMICS - Clinical Applications, Numéro 12/5, 2018, Page(s) 1700163, ISSN 1862-8346
Éditeur: Wiley - VCH Verlag GmbH & CO. KGaA
DOI: 10.1002/prca.201700163

Association of kidney fibrosis with urinary peptides: a path towards non-invasive liquid biopsies?

Auteurs: Pedro Magalhães, Martin Pejchinovski, Katerina Markoska, Miroslaw Banasik, Marian Klinger, Dominika Švec-Billá, Ivan Rychlík, Merita Rroji, Arianna Restivo, Giovambattista Capasso, Flaviu Bob, Adalbert Schiller, Alberto Ortiz, Maria Vanessa Perez-Gomez, Pablo Cannata, Maria Dolores Sanchez-Niño, Radomir Naumovic, Voin Brkovic, Momir Polenakovic, William Mullen, Antonia Vlahou, Petra Zürbig,
Publié dans: Scientific Reports, Numéro 7/1, 2017, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-017-17083-w

Urinary peptidome analyses for the diagnosis of chronic kidney disease in dogs

Auteurs: L. Pelander, V. Brunchault, B. Buffin-Meyer, J. Klein, B. Breuil, P. Zürbig, P. Magalhães, W. Mullen, J. Elliott, H. Syme, J.P. Schanstra, J. Häggström, I. Ljungvall
Publié dans: The Veterinary Journal, Numéro 249, 2019, Page(s) 73-79, ISSN 1090-0233
Éditeur: W. B. Saunders Co., Ltd.
DOI: 10.1016/j.tvjl.2019.05.010

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

Auteurs: Caroline M. Kolvenbach, Gabriel C. Dworschak, Sandra Frese, Anna S. Japp, Peggy Schuster, Nina Wenzlitschke, Öznur Yilmaz, Filipa M. Lopes, Alexey Pryalukhin, Luca Schierbaum, Loes F.M. van der Zanden, Franziska Kause, Ronen Schneider, Katarzyna Taranta-Janusz, Maria Szczepańska, Krzysztof Pawlaczyk, William G. Newman, Glenda M. Beaman, Helen M. Stuart, Raimondo M. Cervellione, Wouter F.J. Feitz
Publié dans: The American Journal of Human Genetics, Numéro 104/5, 2019, Page(s) 994-1006, ISSN 0002-9297
Éditeur: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.03.023

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder

Auteurs: Neil A. Roberts, Emma N. Hilton, Filipa M. Lopes, Subir Singh, Michael J. Randles, Natalie J. Gardiner, Karl Chopra, Riccardo Coletta, Zunera Bajwa, Robert J. Hall, Wyatt W. Yue, Franz Schaefer, Stefanie Weber, Roger Henriksson, Helen M. Stuart, Håkan Hedman, William G. Newman, Adrian S. Woolf
Publié dans: Kidney International, Numéro 95/5, 2019, Page(s) 1138-1152, ISSN 0085-2538
Éditeur: Blackwell Publishing Inc.
DOI: 10.1016/j.kint.2018.11.040

Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies

Auteurs: Adrian S. Woolf, Filipa M. Lopes, Parisa Ranjzad, Neil A. Roberts
Publié dans: Frontiers in Pediatrics, Numéro 7, 2019, ISSN 2296-2360
Éditeur: Frontiers
DOI: 10.3389/fped.2019.00136

Zebrafish as a Model for Drug Screening in Genetic Kidney Diseases

Auteurs: Jochen Gehrig, Gunjan Pandey, Jens H. Westhoff
Publié dans: Frontiers in Pediatrics, Numéro 6, 2018, ISSN 2296-2360
Éditeur: Frontiers
DOI: 10.3389/fped.2018.00183

Novel roles for GATAe in growth, maintenance and proliferation of cell populations in the Drosophila renal tubule

Auteurs: Guillermo Martínez-Corrales, Pablo Cabrero, Julian A. T. Dow, Selim Terhzaz, Shireen-A. Davies
Publié dans: Development, Numéro 146/9, 2019, Page(s) dev178087, ISSN 0950-1991
Éditeur: The Company of Biologists Ltd.
DOI: 10.1242/dev.178087

Targeted renal knockdown of Na + /H + exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila

Auteurs: Saurav Ghimire, Selim Terhzaz, Pablo Cabrero, Michael F. Romero, Shireen Davies, Julian A.T. Dow
Publié dans: American Journal of Physiology-Renal Physiology, 2019, ISSN 1931-857X
Éditeur: American Physiological Society
DOI: 10.1152/ajprenal.00551.2018

Editorial: Organogenesis: From Development to Disease

Auteurs: Sunder Sims-Lucas, Misty Good, Seppo J. Vainio
Publié dans: Frontiers in Cell and Developmental Biology, Numéro 5, 2017, ISSN 2296-634X
Éditeur: Frontiers
DOI: 10.3389/fcell.2017.00085

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