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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發表在: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
格式: Artigo
語言:Inglês
出版: American Society of Nephrology 2017
主題:
Basic Research
在線閱讀: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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