Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.I271fs
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HNF4A

NM_175914.5:p.I271fs

Associated Papers

Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.

Ghanem SS et al.

Cellular & Molecular Biology Letters, 2025

HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes.

Ng NHJ et al.

Nature Communications, 2024

Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene.

Zhang J et al.

Frontiers in Endocrinology, 2023

Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.

Memon B et al.

Stem Cells Translational Medicine, 2022

Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells.

Carrasco M et al.

Diabetes, 2022

The application of precision medicine in monogenic diabetes.

Barbetti F et al.

Expert Review of Endocrinology & Metabolism, 2022

Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.

Bartolomé A

International Journal of Molecular Sciences, 2022

Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements.

Braverman-Gross C et al.

Frontiers in Endocrinology, 2021

Bioinformatic Analyses of miRNA-mRNA Signature during hiPSC Differentiation towards Insulin-Producing Cells upon HNF4α Mutation.

Ghila L et al.

Biomedicines, 2020

HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells.

Ng NHJ et al.

Iscience, 2019

Probing the missing mature β-cell proteomic landscape in differentiating patient iPSC-derived cells.

Vethe H et al.

Scientific Reports, 2017

Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young.

Teo AK et al.

The Journal of Biological Chemistry, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."