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filingDate 2018-10-23-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e3a02c4103b470d62726fc9ac5f2b070
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publicationDate 2019-05-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2019081454-A1
titleOfInvention METHODS AND COMPOSITIONS FOR PREDICTING AND TREATING INTRACRANIAL ANEURYSM
abstract The present invention relates to a method of predicting the risk that a subject develops or presents an intracranial aneurysm (IA) by identifying at least one mutation in an angiogenic protein, such as angiopoietin-like protein 6 (ANGPTL6). In particular, the inventors have identified a rare nonsense variant (c.1378A> T) in the last exon of the ANGPTL6 gene which encodes a circulating proangiogenic factor mainly secreted by the liver shared by the affected 4 affected members of a large genealogy. multi-carrier AI. The inventors have shown a 50% reduction in the serum concentration of ANGPTL6 in c.1378A> T heterozygous carriers compared to non-carrier parents, due to non-secretion of the truncated protein produced by the c1378A transcripts. T. They observed a higher rate of individuals with a history of high blood pressure among healthy carriers against carriers affected with ANGPTL6 variants, suggesting that ANGPTL6 could trigger cerebrovascular damage when combined with other risk factors such as hypertension.
priorityDate 2017-10-24-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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