Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.G191D
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HNF1A

NM_000545.8:p.G191D

Associated Papers

Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population.

Relan S et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy.

Tanaka T et al.

Cancers, 2023

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

Li LM et al.

Frontiers in Endocrinology, 2022

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

Novel insights into genetics and clinics of the HNF1A-MODY.

Valkovicova T et al.

Endocrine Regulations, 2019

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T et al.

Pediatric Diabetes, 2018

Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.

Horikawa Y et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2014

Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations.

Wang C et al.

Diabetes Research and Clinical Practice, 2012

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

Mechanisms of mutual functional interactions between HNF-4alpha and HNF-1alpha revealed by mutations that cause maturity onset diabetes of the young.

Rowley CW et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2006

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

Ryffel GU

Journal of Molecular Endocrinology, 2001

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

Ellard S

Human Mutation, 2000

Structure/function studies of hepatocyte nuclear factor-1alpha, a diabetes-associated transcription factor.

Yang Q et al.

Biochemical and Biophysical Research Communications, 1999

[Maturity-onset diabetes of the young associated with mutations in HNF-transcription factors].

Takeda J

Nihon Ika Daigaku Zasshi, 1999

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

Hepatocyte nuclear factor-1alpha gene and non-insulin-dependent diabetes mellitus in the Japanese population.

Babaya N et al.

Acta Diabetologica, 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/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.

Iwasaki N 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."