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Review Open access Oct 2026

Prevalence and impact of a pathogenic CYP27A1 variant on phenotypes among patients with monogenic heterozygous familial hypercholesterolemia

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder caused by pathogenic variants in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. It remains unclear whether such variants modify the clinical manifestations of familial hypercholesterolemia (FH) arising from defects in...

H. Tada, Y. Takeji, K. Sakata et al. · 0 citations
Open access Aug 2026

Transformer-Based Survival Model for Cardiovascular Risk Prediction from Longitudinal Health Checkup Data

Background: Cardiovascular disease (CVD) is a leading global health concern. Traditional models often miss nonlinear dependencies among physiological and behavioral factors. We hypothesized that a Transformer-based deep learning model, which excels at capturing complex patterns in structured data trained on large-scale...

S. Tsurimoto, A. Nomura, Y. Nagata et al. · 0 citations

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