Publications by authors named "Nuria-Paz Torres-Aguila"
Through GWAS studies we identified PATJ associated with functional outcome after ischemic stroke (IS). The aim of this study was to determine PATJ role in brain endothelial cells (ECs) in the context of stroke outcome. PATJ expression analyses in patient's blood revealed that: (i) the risk allele of rs76221407 induces higher expression of PATJ, (ii) PATJ is downregulated 24 h after IS, and (iii) its expression is significantly lower in those patients with functional independence, measured at 3 months with the modified Rankin scale ((mRS) ≤2), compared to those patients with marked disability (mRS = 4-5).
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- Acenocoumarol is a blood thinner that shows different dosage needs among individuals due to genetic differences, specifically variants in CYP2C9 and VKORC1 genes.
- Researchers conducted a study on 78 Spanish stroke patients using a genome-wide association study to identify genetic variants linked to acenocoumarol dosage and complications like stroke recurrence and intracranial hemorrhage.
- They found 14 genetic variants related to dosage, with specific ones linked to stroke recurrence (6 variants) and intracranial hemorrhage (4 variants), emphasizing the importance of pharmacogenetic studies for improving anticoagulant therapy safety and effectiveness.