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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書誌詳細
出版年:J Am Soc Nephrol
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Nephrology 2017
主題:
Basic Research
オンライン･アクセス: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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