NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 re...
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
About this item
Full title
Author / Creator
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 and Griffith, Andrew J.
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
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. Gainof- function mutations of NLRP3 result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory...
Alternative Titles
Full title
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5604003
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5604003
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1702946114
