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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Zhou, Qing; Yu, Xiaomin; Demirkaya, Erkan; Deuitch, Natalie; Stone, Deborah; Tsai, Wanxia Li; Kuehn, Hye Sun; Wang, Hongying; Yang, Dan; Park, Yong Hwan; Ombrello, Amanda K; Blake, Mary; Romeo, Tina; Remmers, Elaine F; Chae, Jae Jin; Mullikin, James C; Güzel, Ferhat; Milner, Joshua D; Boehm, Manfred; Rosenzweig, Sergio D; Gadina, Massimo; Welch, Steven B; Özen, Seza; Topaloglu, Rezan; Abinun, Mario; Kastner, Daniel L; Aksentijevich, Ivona.
Afiliação
  • Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Yu X; Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892;
  • Demirkaya E; Familial Mediterranean Fever Arthritis Vasculitis and Orphan Disease Research Center, Institute of Health Sciences, R&D Center, Gulhane Military Medical Academy, Ankara 06018, Turkey;
  • Deuitch N; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Stone D; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Tsai WL; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892;
  • Kuehn HS; Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD 20892;
  • Wang H; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Yang D; Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, MD 20892;
  • Park YH; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Ombrello AK; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Blake M; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892;
  • Romeo T; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Remmers EF; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Chae JJ; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892;
  • Mullikin JC; National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, Rockville, MD 20852;
  • Güzel F; Familial Mediterranean Fever Arthritis Vasculitis and Orphan Disease Research Center, Institute of Health Sciences, R&D Center, Gulhane Military Medical Academy, Ankara 06018, Turkey;
  • Milner JD; Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892;
  • Boehm M; Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, MD 20892;
  • Rosenzweig SD; Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD 20892;
  • Gadina M; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892;
  • Welch SB; Heart of England National Health Service Foundation Trust, Birmingham B9 5ST, United Kingdom;
  • Özen S; Department of Pediatric Nephrology and Rheumatology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey;
  • Topaloglu R; Department of Pediatric Nephrology and Rheumatology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey;
  • Abinun M; Institute of Cellular Medicine, Newcastle University, Newcastle NE2 4HH, United Kingdom.
  • Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892; kastnerd@mail.nih.gov aksentii@mail.nih.gov.
  • Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892; kastnerd@mail.nih.gov aksentii@mail.nih.gov.
Proc Natl Acad Sci U S A ; 113(36): 10127-32, 2016 09 06.
Article em En | MEDLINE | ID: mdl-27559085
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Endopeptidases / Leucócitos Mononucleares / Alelos / Doenças Hereditárias Autoinflamatórias / Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Endopeptidases / Leucócitos Mononucleares / Alelos / Doenças Hereditárias Autoinflamatórias / Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos