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Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis
Authors:Smita Jha  Aleksandra Ivovic  Heeseog Kang  Françoise Meylan  Eric P. Hanson  Casey Rimland  Eileen Lange  James Katz  Alison McBride  Andrew C. Warner  Elijah F. Edmondson  Edward W. Cowen  Joan C. Marini  Richard M. Siegel  Timothy Bhattacharyya
Affiliation:1. Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA;2. Section on Congenital Disorders, National Institutes of Health Clinical Center, Bethesda, Maryland, USA;3. Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA;4. Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA;5. Immunodeficiency and Inflammation Unit, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda Maryland, USA;6. Vasculitis Translational Research Program, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA;7. Medical Scientist Training Program, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA;8. Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA;9. Laboratory of Viral Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA;10. Pathology and Histotechnology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA;11. Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
Abstract:
Keywords:ERK"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0015"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  extracellular signal–regulated kinase  MEK"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0025"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  MAPK/ERK kinase  pERK"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0035"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  phosphorylated ERK
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