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NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of NLRP3 result in abnormal activation of the NLRP3 inflammasome, and caus...
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Publicado no: | Proc Natl Acad Sci U S A |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
National Academy of Sciences
2017
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5604003/ https://ncbi.nlm.nih.gov/pubmed/28847925 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1702946114 |
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