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

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first three decades of life. However, for most patients with CAKUT, the causative mutation remains unknown. We identified a kindred with an autosomal dominant form of CAKUT. By whole-exome sequencing...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Vivante, Asaf, Mann, Nina, Yonath, Hagith, Weiss, Anna-Carina, Getwan, Maike, Kaminski, Michael M., Bohnenpoll, Tobias, Teyssier, Catherine, Chen, Jing, Shril, Shirlee, van der Ven, Amelie T., Ityel, Hadas, Schmidt, Johanna Magdalena, Widmeier, Eugen, Bauer, Stuart B., Sanna-Cherchi, Simone, Gharavi, Ali G., Lu, Weining, Magen, Daniella, Shukrun, Rachel, Lifton, Richard P., Tasic, Velibor, Stanescu, Horia C., Cavaillès, Vincent, Kleta, Robert, Anikster, Yair, Dekel, Benjamin, Kispert, Andreas, Lienkamp, Soeren S., Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2017
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5533226/
https://ncbi.nlm.nih.gov/pubmed/28381549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2016060694
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