A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

Asaf Vivante; Nina Mann; Hagith Yonath; Anna-Carina Weiss; Maike Getwan; Michael Kaminski; Tobias Bohnenpoll; Jing Chen; Shirlee Shril; Amelie van Der Ven; Hadas Ityel; Johanna Magdalena Schmidt; Eugen Widmeier; Stuart Bauer; Simone Sanna-Cherchi; Ali Gharavi; Weining Lu; Daniella Magen; Rachel Shukrun; Richard Lifton; Velibor Tasic; Horia C. Stanescu; Vincent Cavaillès; Robert Kleta; Yair Anikster; Benjamin Dekel; Andreas Kispert; Soeren Lienkamp; Friedhelm Hildebrandt; Catherine Teyssier

doi:10.1681/ASN.2016060694

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A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

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A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

Asaf Vivante, Nina Mann, Hagith Yonath, Anna-Carina Weiss, Maike Getwan, Michael Kaminski, Tobias Bohnenpoll, Jing Chen, Shirlee Shril, Amelie van Der Ven, …

Journal of the American Society of Nephrology, Vol.28(8), pp.2364-2376

31/07/2017

DOI: https://doi.org/10.1681/ASN.2016060694

PMCID: PMC5533226

Abstract

CAKUT

NRIP1

retinoic acid

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Title: A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
Creators - without role: Asaf Vivante - Sheba Medical Center
Nina Mann - Sheba Medical Center
Hagith Yonath - Sheba Medical Center
Anna-Carina Weiss - Medizinische Hochschule Hannover
Maike Getwan - University Medical Center
Michael Kaminski - University Medical Center
Tobias Bohnenpoll - Medizinische Hochschule Hannover
Jing Chen
Shirlee Shril
Amelie van Der Ven
Hadas Ityel
Johanna Magdalena Schmidt
Eugen Widmeier - University Medical Center
Stuart Bauer - Boston Children's Hospital
Simone Sanna-Cherchi - Columbia University
Ali Gharavi - Columbia University
Weining Lu
Daniella Magen - Rambam Health Care Campus
Rachel Shukrun - Edmond and Lily Safra Children's Hospital
Richard Lifton - Yale University
Velibor Tasic - Department of Pediatric Nephrology
Horia C. Stanescu - University College London
Vincent Cavaillès - Université de Montpellier, Institut de Recherche en Cancérologie de Montpellier - IRCM
Robert Kleta - University College London
Yair Anikster - Tel Aviv University
Benjamin Dekel - Edmond and Lily Safra Children's Hospital
Andreas Kispert - Medizinische Hochschule Hannover
Soeren Lienkamp - University Medical Center
Friedhelm Hildebrandt - Pediatrics
Catherine Teyssier - Université de Montpellier, Institut de Recherche en Cancérologie de Montpellier - IRCM
Publication Details: Journal of the American Society of Nephrology, Vol.28(8), pp.2364-2376
Identifiers: 9945920909311
Academic Unit: Institut de Recherche en Cancérologie de Montpellier - IRCM
Language: English
Resource Type: Journal article
Local Fields: hal-02284146