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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書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2017
主題:
PNAS Plus
オンライン･アクセス: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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