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Review Open access Oct 2026

Congenital Hyperinsulinism in the Era of Precision Medicine: Genetically Driven Diagnosis and Novel Therapies

Background/Objectives: Congenital hyperinsulinism (CHI) is the leading cause of persistent hypoglycaemia in infancy and childhood characterized by dysregulated insulin secretion despite low plasma glucose concentrations. Early recognition and treatment are essential to reduce the risk of neurological injury. Advances i...

Jaikumar B. Contractor, L. Bharti, Ishan Shah et al. · 0 citations
Open access Sep 2026

Functional Characterization of a Novel HNF1A Frameshift Mutation, p.Ser471Profs*14, in an Indian Patient with MODY3 Subtype

HNF1A -MODY (MODY3) is a monogenic form of diabetes caused by pathogenic variants in the HNF1A gene, a transcription factor essential for pancreatic β-cell development and function. Since there are no functional studies of the truncation mutation, we aimed to understand the functional basis of the n...

V. Radha · 1 citation

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