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1,695,064 results
  • The roles of Orai and Stim in bone health and disease. [Review]
  • CCCell Calcium 2019 Jun 05; 81:51-58
  • Robinson LJ, Blair HC, … Soboloff J
  • Orai and Stim proteins are the mediators of calcium release-activated calcium signaling and are important in the regulation of bone homeostasis and disease. This includes separate regulatory systems …
  • Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy. [Journal Article]
  • JAJ Allergy Clin Immunol 2019 Jun 12
  • Göös H, Fogarty CL, … Seppänen MR
  • CONCLUSIONS: We describe a novel autoinflammatory disease with defective neutrophil function caused by homozygous Arg219His mutation in transcription factor C/EBPε. Mutated C/EBPε acts as a regulator of both the inflammasome and interferome, and the Arg219His mutation causes the first human monogenic neomorphic and non-canonical inflammasomopathy/immunodeficiency. The mechanism, including widely dysregulated transcription, is likely not unique for C/EBPε. Similar multiomics approaches should as well be utilized in studying other transcription factor-associated diseases.
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