Author

U. Sukorini

2 papers indexed here

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Open access Oct 2026

Identification and structural characterization of F8 gene variants in Indonesian patients with nonsevere hemophilia A: Evidence from targeted next generation sequencing and in silico analyses

Hemophilia A is a rare genetic disorder caused by deficiency of coagulation factor VIII resulting from pathogenic variants in the F8 gene. The aim of this study was to identify potential pathogenic variants using targeted next generation sequencing (NGS), followed by in silico structural and pathogenicity analyses. Gen...

N. S. Handayani, S. Suprianto, Ni Gagc Kirana et al. · Narra X · 0 citations

Open access Jul 2026

Integrative bioinformatics analysis identifies APOE as a candidate link between lipid dysregulation and macrophage activation in inborn errors of metabolism

The hypothesis that APOE-associated lipid dysregulation may contribute to macrophage dysfunction and warrant further experimental validation is supported and identified as a highly prioritized candidate gene associated with lipid metabolism pathways and macrophage-related signatures in IEM.

Rahmat Dani Satria, Riswan Hadi Kusuma, Nazhipah Isnani et al. · Frontiers in Pharmacology · 0 citations