Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A501Splc
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HNF1A

NM_000545.8:p.A501Splc

Associated Papers

The Impact of PCSK9 on Diabetic Cardiomyopathy: Mechanisms and Implications.

Wang H et al.

Biomolecules, 2025

An intron mutation of HNF1A causes abnormal splicing and impairs its activity as a transcription factor.

Wang M et al.

Molecular and Cellular Endocrinology, 2022

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

Li LM et al.

Frontiers in Endocrinology, 2022

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.

Shepherd MH et al.

Diabetologia, 2018

30229274 (PubMed )
Supplement: 125_2018_4728_MOESM1_ESM.pdf

Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.

Bacon S et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors.

Fendler W et al.

Diabetologia, 2016

27059371 (PubMed )
Supplement: 125_2016_3945_MOESM2_ESM.pdf

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S et al.

Diabetologia, 2013

Identification of circulating microRNAs in HNF1A-MODY carriers.

Bonner C et al.

Diabetologia, 2013

Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young.

Kyithar MP et al.

Journal of Translational Medicine, 2013

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K et al.

Human Mutation, 2013

Circulating CD36 is reduced in HNF1A-MODY carriers.

Bacon S et al.

Plos One, 2013

Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward.

Bacon S et al.

Bmc Endocrine Disorders, 2012

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.

Kyithar MP et al.

Diabetes & Metabolism, 2011

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.

Xu JY et al.

European Journal of Human Genetics : Ejhg, 2005

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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."