| http://purl.uniprot.org/citations/21264442 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21264442 | http://www.w3.org/2000/01/rdf-schema#comment | "A healthy Japanese male had reduced factor XII (FXII) activity (35%) in contrast to normal antigen levels (81%). The F12 of this proband had a 9775G to C mutation in exon 10 and an 11276G to A mutation in exon 13 that resulted in two amino acid substitutions of Ala324Pro (GCG→CCG) in the proline-rich connecting region and Gly531Glu (GGG→GAG) near the active Ser544 in the catalytic domain. His father had the nucleotide 46T/T and a heterozygous 9775G/C mutation. The FXII activity (32%) and antigen level (38%) of the father were about half that of normal individuals with 46T/T, suggesting a heterozygous cross reacting material (CRM)-negative deficiency. His mother had a 46C/T and heterozygous 11276G/A mutation, and 80% FXII activity was incompatible with the corresponding antigen level (125%), suggesting a heterozygous CRM-positive deficiency. The substitution of Ala324Pro probably caused the CRM-negative mutation and the Gly531Glu caused the CRM-positive mutation. We developed three methods based on chromogenic substrates to assay the distinct functions of FXII, namely its autoactivation on a negatively charged surface, activation by kallikrein cleavage and the prekallikrein cleavage activity of FXIIa. The ratios of autoactivated FXIIa/FXII antigen (0.80-1.10) and of kallikrein-induced FXIIa/FXII antigen (0.86-1.00) in plasma from the proband were within normal ranges, whereas those of FXIIa-induced kallikrein/FXII antigen were reduced to 0.41-0.45. In conclusion, the 9775G to C and 11276G to A mutations of F12 led to a CRM-negative and -positive FXII deficiency, and the F12 with 11276A produced a dysfunctional type of FXII with a partial defect (0.41-0.45) in prekallikrein cleavage activity."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.org/dc/terms/identifier | "doi:10.1160/th10-02-0123"xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Arakawa Y."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Nakagawa M."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Matsushita M."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Sugahara Y."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Iijima K."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Moriguchi Y."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/author | "Shimohiro H."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/name | "Thromb Haemost"xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/pages | "473-478"xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/title | "Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity."xsd:string |
| http://purl.uniprot.org/citations/21264442 | http://purl.uniprot.org/core/volume | "105"xsd:string |
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