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Author

O. Mityaeva

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Review Open access Oct 2026

The insulin gene in humans and mice: evolution, regulation, and sex-specific mechanisms of diabetes susceptibility

The insulin gene (INS) encodes a peptide hormone critical for glucose homeostasis, and its dysregulation underlies both type 1 and type 2 diabetes mellitus. This review compares the structural organization and functional regulation of the insulin gene in humans and mice, highlighting key species differences including t...

A. Mazloum, N. Batashkov, Veronika S. Ledyaeva et al. · 0 citations
Case report Open access Aug 2026

Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon

A male infant with a severe FINCA-like phenotype is reported, including early-onset hemolytic anemia, pulmonary involvement, neurodevelopmental impairment, growth failure, recurrent infections, and fatal progression at 8.5 months.

A. Rozhkova, Anton A. Esibov, Aleksandra Borkovskaia et al. · 0 citations

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