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NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
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.
Afiliação
  • Nakanishi H; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Kawashima Y; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Kurima K; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Chae JJ; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
  • Ross AM; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Pinto-Patarroyo G; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
  • Patel SK; Rheumatology Fellowship and Training Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.
  • Muskett JA; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Ratay JS; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Chattaraj P; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Park YH; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
  • Grevich S; Rady Children's Hospital and Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093.
  • Brewer CC; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Hoa M; Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Kim HJ; Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.
  • Butman JA; Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD 20892.
  • Broderick L; Rady Children's Hospital and Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093.
  • Hoffman HM; Rady Children's Hospital and Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093.
  • Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
  • Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; kastnerd@mail.nih.gov griffita@nidcd.nih.gov.
  • Goldbach-Mansky R; Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.
  • Griffith AJ; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892; kastnerd@mail.nih.gov griffita@nidcd.nih.gov.
Proc Natl Acad Sci U S A ; 114(37): E7766-E7775, 2017 09 12.
Article em En | MEDLINE | ID: mdl-28847925
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína 3 que Contém Domínio de Pirina da Família NLR / Perda Auditiva Neurossensorial Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína 3 que Contém Domínio de Pirina da Família NLR / Perda Auditiva Neurossensorial Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2017 Tipo de documento: Article