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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida Vanessa D; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi.
Afiliación
  • Kozycki CT; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA christina.kozycki@nih.gov dan.kastner@nih.gov.
  • Kodati S; National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
  • Huryn L; National Eye Institute, Bethesda, Maryland, USA.
  • Wang H; National Eye Institute, Bethesda, Maryland, USA.
  • Warner BM; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Jani P; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Hammoud D; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Abu-Asab MS; Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
  • Jittayasothorn Y; Section of Histopathology, National Eye Institute, Bethesda, Maryland, USA.
  • Mattapallil MJ; National Eye Institute, Bethesda, Maryland, USA.
  • Tsai WL; National Eye Institute, Bethesda, Maryland, USA.
  • Ullah E; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Zhou P; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.
  • Tian X; National Institute of Biological Sciences Beijing, Beijing, China.
  • Soldatos A; National Institute of Biological Sciences Beijing, Beijing, China.
  • Moutsopoulos N; National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
  • Kao-Hsieh M; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Heller T; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Cowen EW; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.
  • Lee CR; Dermatology Branch, NIH, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Toro C; National Cancer Institute, Bethesda, Maryland, USA.
  • Kalsi S; Undiagnosed Diseases Program, Bethesda, Maryland, USA.
  • Khavandgar Z; National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Baer A; National Heart Lung and Blood Institute, Bethesda, Maryland, USA.
  • Beach M; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Long Priel D; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Nehrebecky M; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Rosenzweig S; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Romeo T; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Deuitch N; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Brenchley L; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Pelayo E; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Zein W; Oncogenesis and Development Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Sen N; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Yang AH; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
  • Farley G; National Eye Institute, Bethesda, Maryland, USA.
  • Sweetser DA; National Eye Institute, Bethesda, Maryland, USA.
  • Briere L; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.
  • Yang J; Drs. Gilbert and Farley, OD, PC, Colonial Heights, Virginia, USA.
  • de Oliveira Poswar F; Massachusetts General Hospital Center for Genomic Medicine, Boston, Massachusetts, USA.
  • Schwartz IVD; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Silva Alves T; Massachusetts General Hospital Center for Genomic Medicine, Boston, Massachusetts, USA.
  • Dusser P; Massachusetts Eye and Ear, Boston, Massachusetts, USA.
  • Koné-Paut I; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Touitou I; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Titah SM; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • van Hagen PM; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • van Wijck RTA; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • van der Spek PJ; Service de Rhumatologie Pédiatrique, Centre de Référence des Maladies Auto-Inflammatoires de l'enfant, Hôpital Bicêtre, AP HP, Université Paris Sud, Bicetre, France.
  • Yano H; Service de Rhumatologie Pédiatrique, Centre de Référence des Maladies Auto-Inflammatoires et de l'amylose inflammatoire CEREMAIA, Hôpital Bicêtre, AP HP, Université Paris Saclay, Bicetre, France.
Ann Rheum Dis ; 81(10): 1453-1464, 2022 10.
Article en En | MEDLINE | ID: mdl-35868845
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Quinasas / FN-kappa B / Enfermedades Autoinflamatorias Hereditarias Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Ann Rheum Dis Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Quinasas / FN-kappa B / Enfermedades Autoinflamatorias Hereditarias Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Ann Rheum Dis Año: 2022 Tipo del documento: Article