C3 glomerulopathy–associated CFHR1 mutation alters FHR oligomerization and complement regulation

C3 glomerulopathies (C3G) are a group of severe renal diseases with distinct patterns of glomerular inflammation and C3 deposition caused by complement dysregulation. Here we report the identification of a familial C3G-associated genomic mutation in the gene complement factor H–related 1 (CFHR1), wh...

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Hlavní autoři: Tortajada, Agustín, Yébenes, Hugo, Abarrategui-Garrido, Cynthia, Anter, Jaouad, García-Fernández, Jesús M., Martínez-Barricarte, Rubén, Alba-Domínguez, María, Malik, Talat H., Bedoya, Rafael, Pérez, Rocío Cabrera, Trascasa, Margarita López, Pickering, Matthew C., Harris, Claire L., Sánchez-Corral, Pilar, Llorca, Oscar, Rodríguez de Córdoba, Santiago
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3668852/
https://ncbi.nlm.nih.gov/pubmed/23728178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI68280
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