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Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Human molecular genetics - 4 May 2024

Kaci Alba, Solheim Marie Holm, Silgjerd Trine, Hjaltadottir Jorunn, Hornnes Lorentze Hope, Molnes Janne, Madsen Andre, Sjøholt Gry, Bellanné-Chantelot Christine, Caswell Richard, Sagen Jørn V, Njølstad Pål R, Aukrust Ingvild, Bjørkhaug Lise

Abstract excerpt

Hepatocyte nuclear factor-4 alpha (HNF-4A) regulates genes with roles in glucose metabolism and β-cell development. Although pathogenic HNF4A variants are commonly associated with maturity-onset diabetes of the young (MODY1; HNF4A-MODY), rare phenotypes also include hyperinsulinemic hypoglycemia, renal Fanconi syndrome and liver disease. While the association of rare functionally damaging HNF1A variants with...

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Share to Cell Line
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Hep G2 Cells

Share to Hepatocyte Nuclear Factor 1-alpha

Share to Hepatocyte Nuclear Factor 4

Share to Promoter Regions, Genetic

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Identifiers

PMID: 38433330
DOI: 10.1093/hmg/ddae027
PMCID: PMC11070132

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