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Article

Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.

Frontiers in endocrinology - 1 Jan 2023

Kavitha Babu, Ranganathan Sampathkumar, Gopi Sundaramoorthy, Vetrivel Umashankar, Hemavathy Nagarajan, Mohan Viswanathan, Radha Venkatesan

Abstract excerpt

Background: HNF1A is an essential component of the transcription factor network that controls pancreatic β-cell differentiation, maintenance, and glucose stimulated insulin secretion (GSIS). A continuum of protein malfunction is caused by variations in the HNF1A gene, from severe loss-of-function (LOF) variants that cause the highly penetrant Maturity Onset Diabetes of the Young (MODY) to milder LOF variants that...

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Identifiers

PMID: 37396188
DOI: 10.3389/fendo.2023.1177268
PMCID: PMC10313120

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