Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.H126D
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HNF1A

NM_000545.8:p.H126D

Associated Papers

HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.

Chan JW et al.

Cell Death & Disease, 2023

Two case reports of maturity-onset diabetes of the young type 3 caused by the hepatocyte nuclear factor 1α gene mutation.

Wen Q et al.

Open Medicine (warsaw, Poland), 2023

Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress.

Chen Y et al.

International Journal of Molecular Sciences, 2022

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

Sousa M et al.

International Journal of Molecular Sciences, 2022

Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency.

González BJ et al.

Communications Biology, 2022

HNF1A Mutations and Beta Cell Dysfunction in Diabetes.

Miyachi Y et al.

International Journal of Molecular Sciences, 2022

The application of precision medicine in monogenic diabetes.

Barbetti F et al.

Expert Review of Endocrinology & Metabolism, 2022

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells.

Low BSJ et al.

Nature Communications, 2021

Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant.

Tan CSH et al.

European Journal of Human Genetics : Ejhg, 2020

A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians.

Ang SF et al.

Diabetes Research and Clinical Practice, 2016

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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."