Article
A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction.
Thrombosis and haemostasis - 5 May 2014
Nisar Shaista P, Lordkipanidzé Marie, Jones Matthew L, Dawood Ban, Murden Sherina, Cunningham Margaret R, Mumford Andrew D, Wilde Jonathan T, Watson Steve P, Mundell Stuart J, Lowe Gillian C
Abstract excerpt
A small number of thromboxane receptor variants have been described in patients with a bleeding history that result in platelet dysfunction. We have identified a patient with a history of significant bleeding, who expresses a novel heterozygous thromboxane receptor variant that predicts an asparagine to serine substitution (N42S). This asparagine is conserved across all class A GPCRs, suggesting a vital role for...
Topics
- Asparagine
- Blood Platelets
- Conserved Sequence
- Down-Regulation
- Female
- Genetic Variation
- HEK293 Cells
- Hemorrhage
- Heterozygote
- Humans
- Middle Aged
- Mutation
- Platelet Activation