Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundlin...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Rao, Jia, Ashraf, Shazia, Tan, Weizhen, van der Ven, Amelie T., Gee, Heon Yung, Braun, Daniela A., Fehér, Krisztina, George, Sudeep P., Esmaeilniakooshkghazi, Amin, Choi, Won-Il, Jobst-Schwan, Tilman, Schneider, Ronen, Schmidt, Johanna Magdalena, Widmeier, Eugen, Warejko, Jillian K., Hermle, Tobias, Schapiro, David, Lovric, Svjetlana, Shril, Shirlee, Daga, Ankana, Nayir, Ahmet, Shenoy, Mohan, Tse, Yincent, Bald, Martin, Helmchen, Udo, Mir, Sevgi, Berdeli, Afig, Kari, Jameela A., El Desoky, Sherif, Soliman, Neveen A., Bagga, Arvind, Mane, Shrikant, Jairajpuri, Mohamad A., Lifton, Richard P., Khurana, Seema, Martins, Jose C., Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5707164/
https://ncbi.nlm.nih.gov/pubmed/29058690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI94138
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