Thromboxane receptor mutation

Hirata, T., Ushikubi, E., Kakizuka, A., Okuma, M., and Narumiya, S. (1996) Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. J. Clin. Invest. 97,949-956. 

Higuchi, W., Euse, I., Hattori, A., and Aizawa, Y. (1999) Mutations of the platelet thromboxane A (TXA2) receptor in patients characterized by the absence of TXA2-induced platelet aggregation despite normal TXA2 binding activity. Thromb. Haemost. 82, 1528-1531. 

Defects in platelet-agonist interaction are exemplified by patients with impaired responses because of an abnormality at the level of platelet surface receptors for a specific agonist. Such receptor defects have been documented for epinephrine, collagert, ADP, and thromboxane A2. Hirata et al (21) have described an Arg 60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. Evidence has been... 

Capra, V, Veltri, A., FogHa, C., Crimaldi, L., Habib, A., Parenti, M., Rovati, G.E. Mutational analysis of the highly conserved ERY motif of the thromboxane A2 receptor alternative role in G protein-coupled receptor signaling. Mol. Pharmacol. 2004, 66(4), 880-9. Epub 2004 Jun 30. 

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