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 en:Proc Natl Acad Sci U S A
Autores principales: Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Chae, Jae Jin, Ross, Astin M., Pinto-Patarroyo, Gineth, Patel, Seema K., Muskett, Julie A., Ratay, Jessica S., Chattaraj, Parna, Park, Yong Hwan, Grevich, Sriharsha, Brewer, Carmen C., Hoa, Michael, Kim, H. Jeffrey, Butman, John A., Broderick, Lori, Hoffman, Hal M., Aksentijevich, Ivona, Kastner, Daniel L., Goldbach-Mansky, Raphaela, Griffith, Andrew J.
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2017
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PNAS Plus
Acceso en línea: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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