Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn’s disease

In these studies, we evaluated the contribution of the NLRP3 inflammasome to Crohn’s disease (CD) in a kindred containing individuals having a missense mutation in CARD8, a protein known to inhibit this inflammasome. Whole exome sequencing and PCR studies identified the affected individuals as havin...

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Bibliografski detalji
Izdano u:J Clin Invest
Glavni autori: Mao, Liming, Kitani, Atsushi, Similuk, Morgan, Oler, Andrew J., Albenberg, Lindsey, Kelsen, Judith, Aktay, Atiye, Quezado, Martha, Yao, Michael, Montgomery-Recht, Kim, Fuss, Ivan J., Strober, Warren
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2018
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Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5919822/
https://ncbi.nlm.nih.gov/pubmed/29408806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI98642
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