Title : Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.

Pub. Date : 2003 Feb 18

PMID : 12578987






8 Functional Relationships(s)
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1 Analysis of the patient"s P2Y(12) gene revealed a G-to-A transition in one allele, changing the codon for Arg-256 in the sixth transmembrane domain to Gln, and a C-to-T transition in the other allele, changing the codon for Arg-265 in the third extracellular loop to Trp. Arginine purinergic receptor P2Y12 Homo sapiens
2 Analysis of the patient"s P2Y(12) gene revealed a G-to-A transition in one allele, changing the codon for Arg-256 in the sixth transmembrane domain to Gln, and a C-to-T transition in the other allele, changing the codon for Arg-265 in the third extracellular loop to Trp. Glutamine purinergic receptor P2Y12 Homo sapiens
3 Analysis of the patient"s P2Y(12) gene revealed a G-to-A transition in one allele, changing the codon for Arg-256 in the sixth transmembrane domain to Gln, and a C-to-T transition in the other allele, changing the codon for Arg-265 in the third extracellular loop to Trp. Arginine purinergic receptor P2Y12 Homo sapiens
4 Analysis of the patient"s P2Y(12) gene revealed a G-to-A transition in one allele, changing the codon for Arg-256 in the sixth transmembrane domain to Gln, and a C-to-T transition in the other allele, changing the codon for Arg-265 in the third extracellular loop to Trp. Tryptophan purinergic receptor P2Y12 Homo sapiens
5 Neither mutation interfered with receptor surface expression but both altered function, since ADP inhibited the forskolin-induced increase of cAMP markedly less in cells transfected with either mutant P2Y(12) as compared with wild-type receptor. Adenosine Diphosphate purinergic receptor P2Y12 Homo sapiens
6 Neither mutation interfered with receptor surface expression but both altered function, since ADP inhibited the forskolin-induced increase of cAMP markedly less in cells transfected with either mutant P2Y(12) as compared with wild-type receptor. Colforsin purinergic receptor P2Y12 Homo sapiens
7 Neither mutation interfered with receptor surface expression but both altered function, since ADP inhibited the forskolin-induced increase of cAMP markedly less in cells transfected with either mutant P2Y(12) as compared with wild-type receptor. Cyclic AMP purinergic receptor P2Y12 Homo sapiens
8 These studies delineate a region of P2Y(12) required for normal function after ADP binding. Adenosine Diphosphate purinergic receptor P2Y12 Homo sapiens