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Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou, Qing; Wang, Hongying; Schwartz, Daniella M; Stoffels, Monique; Park, Yong Hwan; Zhang, Yuan; Yang, Dan; Demirkaya, Erkan; Takeuchi, Masaki; Tsai, Wanxia Li; Lyons, Jonathan J; Yu, Xiaomin; Ouyang, Claudia; Chen, Celeste; Chin, David T; Zaal, Kristien; Chandrasekharappa, Settara C; Hanson, Eric P; Yu, Zhen; Mullikin, James C; Hasni, Sarfaraz A; Wertz, Ingrid E; Ombrello, Amanda K; Stone, Deborah L; Hoffmann, Patrycja; Jones, Anne; Barham, Beverly K; Leavis, Helen L; van Royen-Kerkof, Annet; Sibley, Cailin; Batu, Ezgi D; Gül, Ahmet; Siegel, Richard M; Boehm, Manfred; Milner, Joshua D; Ozen, Seza; Gadina, Massimo; Chae, JaeJin; Laxer, Ronald M; Kastner, Daniel L; Aksentijevich, Ivona.
Afiliação
  • Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Wang H; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Schwartz DM; Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Stoffels M; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Park YH; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Zhang Y; Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases, Bethesda, Maryland, USA.
  • Yang D; Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
  • Demirkaya E; FMF Arthritis Vasculitis and Orphan Disease Research Center (FAVOR), Gulhane Military Medical Academy, Ankara, Turkey.
  • Takeuchi M; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Tsai WL; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Lyons JJ; Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases, Bethesda, Maryland, USA.
  • Yu X; Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases, Bethesda, Maryland, USA.
  • Ouyang C; Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Chen C; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Chin DT; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Zaal K; Light Imaging Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Hanson EP; Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Yu Z; Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
  • Mullikin JC; National Institute of Health Intramural Sequencing Center, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Hasni SA; Systemic Autoimmune Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Wertz IE; Department of Molecular Oncology, Genentech, Inc., San Francisco, California, USA.
  • Ombrello AK; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Stone DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Hoffmann P; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Jones A; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Barham BK; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Leavis HL; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, the Netherlands.
  • van Royen-Kerkof A; Department of Pediatric Immunology, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Sibley C; Division of Arthritis and Rheumatic Diseases, Oregon Health and Science University, Portland, Oregon, USA.
  • Batu ED; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.
  • Gül A; Department of Internal Medicine, Istanbul University, Istanbul, Turkey.
  • Siegel RM; Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Boehm M; Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
  • Milner JD; Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases, Bethesda, Maryland, USA.
  • Ozen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.
  • Gadina M; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Chae J; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Laxer RM; Division of Rheumatology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Nat Genet ; 48(1): 67-73, 2016 01.
Article em En | MEDLINE | ID: mdl-26642243
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Ligação a DNA / Doenças Hereditárias Autoinflamatórias / Haploinsuficiência / Mutação Tipo de estudo: Clinical_trials Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Ligação a DNA / Doenças Hereditárias Autoinflamatórias / Haploinsuficiência / Mutação Tipo de estudo: Clinical_trials Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos