Jul 7, 2023 · Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding HNF1A variant, most of unknown functional consequence.

To this aim, we molecularly profiled six HAs from a patient harboring a germline mutation in HNF1A with a negative dominant effect who developed massive hepatic adenomatosis. Overall, our results reveal that in the majority of the sampled HAs, HNF1A presents a …

Jan 5, 2024 · We introduced gain-of-function (GOF) and loss-of-function (LOF) mutations affecting HNF4A-, CEBPA-, HNF1A- and FOXA1-binding sites, and mutations of TBX3 and TCF7L1/2 motifs (Fig. 7d and Extended...

Jun 16, 2023 · 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 are far less penetrant but impart a population-wide risk of type 2 diabetes that is up to five times higher. Before ...

Jun 15, 2023 · The hepatocyte nuclear factor 1A (HNF1A)gene (MIM # 142410) encodes a crucial member of an auto-regulatory transcription circuit in mature and developing pancreas.

Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of dia-betes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding variant, most …

Mar 30, 2022 · Loss-of-function mutations in Hepatocyte Nuclear Factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare protein-coding variant in HNF1A, most of unknown functional consequence.

Sep 29, 2024 · HNF1A encodes a transcription factor binding to the 5′-GTTAATNATTAAC-3′ DNA sequence and is expressed in tissues of endodermal origin. It works as a dimer and interacts with other proteins such as CREB, EP300, PCAF, RAC3, Src, and HNF4A [1, 2, 3, 4].

May 30, 2023 · Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding HNF1A variant, most of unknown functional consequence.

HNF1 α promotes activation of the insulin pathway and oxidative breakdown of fat and inhibits lipid anabolism. Inhibitors of STAT3 can reverse the regulation of decreased HNF1 α expression on the insulin signaling pathway and fat metabolism.