http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2020136216-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1c7d4d0cdc9f5df2ad6a9e21f7ad7611 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_4f1f7e7aa3a5091199271dfb2fe64582 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a498612c2f174db11379d02db377346e http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1e5fbdb2b31c9d7af515b9aa72d68221 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_43a72884e25aaecffebe0942132d704f http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e3b4f2ef8f062dcde3a2b7cd81748472 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_6f4d86235703b3e2a1cb10b98722d80d |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2019-12-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8c0149dd806273b80de4f1cd10bb6439 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b64bca098976e543efb586742f67eb41 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8909c65d5f8ab9547f5d75d79fac3ed1 |
| publicationDate | 2020-07-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | WO-2020136216-A1 |
| titleOfInvention | Methods of identifying subjects having or at risk of having a coagulation related disorder |
| abstract | Coagulation factor V (FV) plays an important and dual role in the regulation of blood coagulation by exhibiting both pro- and anticoagulant functions. In order to detect novel genetic loci participating to the regulation of Factor V (FV) plasma levels, the inventors conducted the first Genome Wide Association Study on this hemostatic phenotype in a sample of 510 individuals and replicated the main findings in an independent samples of 1156 individuals. In addition to genetic variations at the F5 locus, they identified novel associations at the PLXDC2 locus with the PLXDC2 rs927826 polymorphism explaining ~3.7% (p 7.5 10 -15 in the combined discovery and replication samples) of the variability of FV plasma levels. SiRNA experiments in human hepatocellular carcinoma cell line confirmed the role of PLXDC2 in modulating factor F5 gene expression. Accordingly, detecting a genetic variant in the PLXDC2 gene would be suitable for identifying a subject having or at risk of having a coagulation related disorder. |
| priorityDate | 2018-12-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 185.