Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L12H
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HNF1A

NM_000545.8:p.L12H

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function.

Cujba AM et al.

Cell Reports, 2022

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

Li LM et al.

Frontiers in Endocrinology, 2022

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 2021

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

Functional analyses of the mutation nt-128 T→G in the hepatocyte nuclear factor-1α promoter region in Chinese diabetes pedigrees.

Fang Q et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2012

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha.

Narayana N et al.

Journal of Molecular Biology, 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

Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells.

Gu N et al.

Biochemical and Biophysical Research Communications, 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

The dimerization domain of HNF-1alpha: structure and plasticity of an intertwined four-helix bundle with application to diabetes mellitus.

Narayana N et al.

Journal of Molecular Biology, 2001

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

Ellard S

Human Mutation, 2000

Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.

Rose RB et al.

Nature Structural Biology, 2000

Molecular and biochemical analysis of the MODY syndromes.

Winter WE

Pediatric Diabetes, 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

Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta.

Okita K et al.

Biochemical and Biophysical Research Communications, 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

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

Yamada S et al.

Diabetes, 1999

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."