A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis

Am J Hematol. 2021 Mar 1;96(3):E83-E88. doi: 10.1002/ajh.26076. Epub 2021 Jan 5.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asian People / genetics
  • Cyclooxygenase 1 / deficiency
  • Cyclooxygenase 1 / genetics*
  • Cyclooxygenase 1 / metabolism
  • Female
  • Genes, Dominant
  • Glycosylation
  • HEK293 Cells
  • Hemorrhagic Disorders / blood
  • Hemorrhagic Disorders / genetics*
  • Heterozygote
  • Humans
  • Loss of Function Mutation*
  • Mutation, Missense*
  • Phenotype
  • Platelet Activation / genetics*
  • Platelet Activation / physiology
  • Protein Processing, Post-Translational / genetics*

Substances

  • Cyclooxygenase 1
  • PTGS1 protein, human