http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-109679962-A

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assignee http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d4bb6ed10c84dba1ce994506be21a2d7
classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K45-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P11-00
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P11-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K45-00
filingDate 2018-12-05-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6e02ecc390ba6f8e7eec56ff96a6434c
publicationDate 2019-04-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-109679962-A
titleOfInvention Fbn2 gene and its application
abstract The invention discloses a kind of Fbn2 genes of mutation, are 1 mutation with the difference of wild type Fbn2 gene, and the Fbn2 gene being mutated leads to the generation of tracheae formation defect disease;Mutation is: c.2547T → A in Fbn2 gene;The invention also discloses the carrier of the Fbn2 gene containing mutation and host cell and its applications, and can improve application of the inhibitor of the activity of Fbn2 gene or/and the reagent of expression quantity and matrix metalloproteinase in the drug that preparation treatment tracheae forms defect disease.The present invention constructs a kind of mouse (Fbn2 of new Fbn2 gene mutation T2547A ), i.e., a kind of Fbn2 nonsense mutation leads to the mouse of the decline of Fbn2 protein expression and gene inactivation;Find that the inactivation of Fbn2 weakens the contraction of mouse tracheae simultaneously, the inactivation of Fbn2 will lead to the disorder and polar forfeiture of airway smooth muscle cells arrangement, the reduction of disorder and fibrin expression quantity that the inactivation of Fbn2 causes elastin laminin to be formed, the expression quantity of Fbn2 and fibronectin in the patient's trachea of tracheal collapse are decreased obviously.
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-115227806-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2023024134-A1
priorityDate 2018-12-05-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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