Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.G319S
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HNF1A

NM_000545.8:p.G319S

Associated Papers

Caloric Restriction Substantially Improves Glucose Regulation in Mice With Hnf1a-Deficient Beta-Cells.

Sharmine S et al.

Acta Physiologica (oxford, England), 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland.

Thuesen ACB et al.

Canadian Journal of Diabetes, 2025

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Stalbow LA et al.

Diabetologia, 2023

A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.

Thuesen ACB et al.

The Lancet Regional Health. Europe, 2023

Where to for precision treatment of HNF1A-MODY?

Bonner C et al.

Diabetologia, 2022

HNF1A Mutations and Beta Cell Dysfunction in Diabetes.

Miyachi Y et al.

International Journal of Molecular Sciences, 2022

Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis.

Dallali H et al.

Diabetology & Metabolic Syndrome, 2022

Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.

Bartolomé A

International Journal of Molecular Sciences, 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 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

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM et al.

International Journal of Molecular Sciences, 2021

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic β-cell dysfunction.

Nocera D et al.

Acta Diabetologica, 2019

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

Valkovicova T et al.

Endocrine Regulations, 2019

The next generation cohort: a description of a cohort at high risk for childhood onset type 2 diabetes.

Jabar F et al.

Journal of Developmental Origins of Health and Disease, 2019

Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas.

Martagón AJ et al.

Diabetes Care, 2018

Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus.

Horikawa Y

Journal of Diabetes Investigation, 2018

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

Abnormalities in alternative splicing in diabetes: therapeutic targets.

Dlamini Z et al.

Journal of Molecular Endocrinology, 2017

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA et al.

Diabetes, 2017

Association of the HNF1A polymorphisms and serum lipid traits, the risk of coronary artery disease and ischemic stroke.

Zhou YJ et al.

The Journal of Gene Medicine, 2017

Genetically defined elevated homocysteine levels do not result in widespread changes of DNA methylation in leukocytes.

Mandaviya PR et al.

Plos One, 2017

Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.

Amed S et al.

Canadian Journal of Diabetes, 2016

Genetics of Type 2 Diabetes: the Power of Isolated Populations.

Andersen MK et al.

Current Diabetes Reports, 2016

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

The Metabolic Phenotype of Youth Onset Type 2 Diabetes: The Role of Pregestational Diabetes Exposure and the Hepatic Nuclear Factor 1Alpha G319S Polymorphism.

Charison J et al.

Canadian Journal of Diabetes, 2016

Exploring the role of the HNF-1αG319S polymorphism in β cell failure and youth-onset type 2 diabetes: Lessons from MODY and Hnf-1α-deficient animal models.

Jonasson ME et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2015

Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.

Childs EJ et al.

Nature Genetics, 2015

Old meets new: identifying founder mutations in genetic disease.

Evans JA

Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 2015

Polymorphisms in the GCKR are associated with serum lipid traits, the risk of coronary artery disease and ischemic stroke.

Zhou YJ et al.

International Journal of Clinical and Experimental Medicine, 2015

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.

Estrada K et al.

Jama, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Wakil SM et al.

Disease Markers, 2014

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

Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil.

Bonatto N et al.

Genetics and Molecular Biology, 2012

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.

Vaxillaire M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2012

Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes.

Anuradha S et al.

Clinical Genetics, 2011

HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study.

Ley SH et al.

Bmc Medical Genetics, 2011

Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: a population-based epidemiological study.

Ley SH et al.

Cardiovascular Diabetology, 2010

Personalized prognosis and diagnosis of type 2 diabetes--vision or fiction?

Müller G

Pharmacology, 2010

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.

Jafar-Mohammadi B et al.

Plos One, 2009

HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study.

Giuffrida FM et al.

Cardiovascular Diabetology, 2009

Hypertriglyceridemia: phenomics and genomics.

Hegele RA et al.

Molecular and Cellular Biochemistry, 2009

Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts.

Harries LW et al.

Diabetes, 2008

Common and rare alleles as causes of complex phenotypes.

Polychronakos C

Current Atherosclerosis Reports, 2008

Childhood obesity complicating the differential diagnosis of maturity-onset diabetes of the young and type 2 diabetes.

Weintrob N et al.

Pediatric Diabetes, 2008

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

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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."