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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Pubblicato in:J Am Soc Nephrol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Nephrology 2017
Soggetti:
Basic Research
Accesso online: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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