Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_050fc7b82c5d17d9aeb63a7cdcc546b3 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c650bc189c0fd43656877b5aada02fea |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-71 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-51 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P19-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-705 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-51 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P19-00 |
filingDate |
2020-12-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_64704c1b637550b6991cbfc04a07c7d0 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5e6ca60c1cddba45d8a1736a8b2751a9 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fb8ace63b25215d2968b76825cdb24b3 |
publicationDate |
2021-12-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
WO-2021256646-A1 |
titleOfInvention |
Novel gain-of-function mutant of bmpr2 gene and use thereof |
abstract |
Disclosed is a technique for identifying a mutation of a particular gene as a new case of an FOP-like phenotype, in addition to the existing ACVR1-R206H mutation known as a cause of FOP and utilizing the identified mutation in the bone disease treatment through osteogenic differentiation. The present invention provides a bone morphogenetic protein type 2 receptor (BMPR2)-E376K mutant in which the 376th amino acid glutamic acid (E) is mutated into lysine (K) in the BMPR2 gene encoding BMPR2. |
priorityDate |
2020-06-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |