| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_43a72884e25aaecffebe0942132d704f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b603ecd95b3b1497ae9f30752a676c0e
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ed3c2f63a5b1c705b1b389a6f1f1f7c8
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_df02dc2eab1779ebc7dfb5accf94318b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e4afb1530bd6dd6420ba72c97597ef00 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-1709
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Y306-05002
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-7105
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P35-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P35-02
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-46
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-14 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P35-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-46
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-14 |
| filingDate |
2020-07-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6fc09907fff832d62e0546adacfae648
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_aac980c7fcc0ef560ce1f2c8e6f79fa3
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_850f088ed8ec2b0fbd42eba7f8b4d6e4
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6b5ada10f860571875fc83ddb1cc82b6
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a028629e0112f4cf545ccc55d6744afd |
| publicationDate |
2022-08-25-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2022265781-A1 |
| titleOfInvention |
Methods for inducing full ablation of hematopoiesis |
| abstract |
The inventors have identified an autosomal dominant (AD) missense mutation in the RAC2 gene (coding for Ras-related botulinum toxin substrate 2 (RAC2)) in three Severe combined immunodeficiencies (SCID) patients whose clinical presentation overlaps with the RD SCID form but who lack AK2 mutations and deafness. Using biochemical and in vitro differentiation assays, the inventors demonstrated that the RAC2 mutation was closely related to an impairment in cell differentiation capacity and defects in cellular and mitochondrial networks. Taken as a whole, the data demonstrate that a dominant gain-of-function (GOF) mutation in the RAC2 protein's GDP/GTP binding site inhibits HSPC differentiation and leads to a severe AD form of SCID with a clinical presentation of RD. Accordingly, the results prompt to consider that introduction of the identified RAC2 mutein in the hematopoietic lineage would be suitable for inducing full ablation of hematopoiesis. n C |
| priorityDate |
2019-07-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |