Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.C241G
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HNF1A

NM_000545.8:p.C241G

Associated Papers

Effect of SGLT2 Inhibition on Glucosuria During a Hyperglycemic Clamp in HNF1A-MODY (MODY3) and Type 2 Diabetes.

Maagensen H et al.

Diabetes Care, 2025

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

Li LM et al.

Frontiers in Endocrinology, 2022

GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in Hepatocyte Nuclear Factor 1α Mutation Carriers.

Christensen AS et al.

Diabetes, 2020

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.

Gao R et al.

Bmc Genetics, 2014

24476040 (PubMed )
Supplement: 1471-2156-15-13-S1.docx

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in monogenic diabetes.

Harries LW

Expert Review of Endocrinology & Metabolism, 2006

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

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

Johansen A et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

Ellard S

Human Mutation, 2000

Molecular and biochemical analysis of the MODY syndromes.

Winter WE

Pediatric Diabetes, 2000

Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.

Yoshiuchi I et al.

Diabetologia, 1999

Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having Type I diabetes.

Møller AM et al.

Diabetologia, 1998

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.

Gragnoli C et al.

Diabetes, 1997

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

Kaisaki PJ et al.

Diabetes, 1997

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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."