TRPC6 G757D Loss-of-Function Mutation Associates with FSGS

FSGS is a CKD with heavy proteinuria that eventually progresses to ESRD. Hereditary forms of FSGS have been linked to mutations in the transient receptor potential cation channel, subfamily C, member 6 (TRPC6) gene encoding a nonselective cation channel. Most of these TRPC6 mutations cause a gain-of...

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Bibliografske podrobnosti
izdano v:J Am Soc Nephrol
Main Authors: Riehle, Marc, Büscher, Anja K., Gohlke, Björn-Oliver, Kaßmann, Mario, Kolatsi-Joannou, Maria, Bräsen, Jan H., Nagel, Mato, Becker, Jan U., Winyard, Paul, Hoyer, Peter F., Preissner, Robert, Krautwurst, Dietmar, Gollasch, Maik, Weber, Stefanie, Harteneck, Christian
Format: Artigo
Jezik:Inglês
Izdano: American Society of Nephrology 2016
Teme:
Basic Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004639/
https://ncbi.nlm.nih.gov/pubmed/26892346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015030318
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