http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2006507845-A
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-136 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2500-04 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-143333 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-15 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-566 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-50 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-02 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2003-10-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2006-03-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | JP-2006507845-A |
| titleOfInvention | LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis |
| abstract | Disclosed herein are point mutations in the LMNA gene responsible for HGPS. These mutations activate a potential splice site within the LMNA gene that results in the deletion of a portion of exon (11) and the generation of a mutant lamin A protein product that is (50) amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and the nucleic acid encoding this variant, these molecules are used to detect biological conditions associated with LMNA mutations in subjects (eg, HGPS, arteriosclerosis and other age-related diseases) Also disclosed are methods of using, methods of treating such conditions, methods of selecting therapeutic means, methods of screening for compounds that affect lamin A activity, and methods of affecting expression of LMNA or LMNA variants. Oligonucleotides and other compounds for use in the described method examples are also provided and are protein specific that specifically bind to at least one epitope of a lamin A variant protein preferentially compared to wild type lamin A. Also provided are binding agents (such as antibodies) and methods for using such antibodies for diagnosis, therapy and screening. Also provided are kits for performing the methods described herein. |
| isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-5995086-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2019235728-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2013257347-A |
| priorityDate | 2002-10-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 568.