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filingDate 2020-12-11-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f8d3a2b8ea66f688e7eb2382a02d1e7c
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publicationDate 2021-08-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2021155712-A1
titleOfInvention Application of substance for detecting mecp2 mutation in detecting whether mecp2 mutation is pathogenic mutation and selecting drug
abstract Provided is an application of a substance for detecting an MeCP2 mutation in detecting whether the MeCP2 mutation is a pathogenic mutation and selecting a drug. It is found that MeCP2 can be bound with nucleosome beads to generate a phase change, and both an MeCP2 pathogenic truncation mutation and a point mutation cause an abnormal phase change between MeCP2 and the nucleosome beads; an intracellular experimental result shows that only a pathogenic point mutation can cause the abnormal phase change, but a non-pathogenic point mutation has no obvious influence on the phase change, and it is further proved that the abnormal phase change is closely related to a disease caused by the MeCP2 mutation. Therefore, the reversion of the abnormal phase change is likely to become a new idea and direction for treating a related disease, a regulation substance capable of reversing the abnormal phase change can be obtained by means of high throughput screening and be applied to the development of a potential targeted drug, and the strategy can also provide reference for treating other diseases related to the abnormal phase change.
priorityDate 2020-02-03-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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