| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_941880d81312cfd9d5533e18a0761cc3
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8a64fe93082b932da3c4f8c9ba4723db
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_f57b0c0a31846d32c96c6b72bdbf2260 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-154
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-136 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6881
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2012-06-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_7fc9150799284b668b112fa40fbbff93 |
| publicationDate |
2012-12-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2012174610-A1 |
| titleOfInvention |
Treatment and diagnosis of epigenetic disorders and conditions |
| abstract |
The present disclosure relates generally to the field of epigenetics and in particular epigenetic profiles associated with a pathological condition. The present specification teaches screening of individuals and populations for epigenetic profiles associated with a pathological condition. Epigenetic profiles are disclosed from the following sites in the FMR1 gene: FREE3, intron 2, an intron, intron/exon boundary and/or splicing region downstream of intron 2, and a site within the FREE2 portion of intron 1 in combination with a FM. Epigenetic profiles are also disclosed from a region in the FMR genetic locus selected from an intron, intron/exon boundary, a splicing region or an intragenic region in combination with an expansion mutation. Kits and diagnostic assays are also taught herein as are computer programs to monitor changes in epigenetic patterns and profiles. Further enabled herein is a method for screening for agents which can reduce or mask the adverse effects of epigenetic modification and the use of these agents in therapy and prophylaxis. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2016324144-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10059941-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10041074-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-109295053-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2023154813-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10174328-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10837014-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2013131981-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2017049192-A1 |
| priorityDate |
2011-06-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |