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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Bibliografiska uppgifter
I publikationen:Proc Natl Acad Sci U S A
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2017
Ämnen:
PNAS Plus
Länkar: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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