Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D4
Variant:p.R684*
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TBC1D4

NM_014832.5:p.R684*

Associated Papers

Is Predisposition to T2D Impacted by Polymorphisms in Genes Involved in Insulin Signaling and Cellular Bioenergetics?

Pati B et al.

Acta Physiologica (oxford, England), 2025

Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees.

Ran CQ et al.

Current Medical Science, 2025

Genetic architecture in Greenland is shaped by demography, structure and selection.

Stæger FF et al.

Nature, 2025

39939757 (PubMed )
Supplement: 41586_2024_8516_MOESM3_ESM.pdf

Skeletal muscle from TBC1D4 p.Arg684Ter variant carriers is severely insulin resistant but exhibits normal metabolic responses during exercise.

Kristensen JM et al.

Nature Metabolism, 2024

AS160 is a lipid-responsive regulator of cardiac Ca2+ homeostasis by controlling lysophosphatidylinositol metabolism and signaling.

Su S et al.

Nature Communications, 2024

MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.

Hasballa I et al.

International Journal of Molecular Sciences, 2024

Perspectives on genetic studies of type 2 diabetes from the genome-wide association studies era to precision medicine.

Imamura M et al.

Journal of Diabetes Investigation, 2024

Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome.

Cahn A et al.

European Journal of Human Genetics : Ejhg, 2024

The effect of traditional diet on glucose homoeostasis in carriers and non-carriers of a common TBC1D4 variant in Greenlandic Inuit: a randomised crossover study.

Lewis JI et al.

The British Journal of Nutrition, 2023

The effect of diabetes and the diabetogenic TBC1D4 p.Arg684ter variant on kidney function in Inuit in Greenland.

Overvad M et al.

International Journal of Circumpolar Health, 2023

Genetics of metabolic traits in Greenlanders.

Thuesen ACB et al.

Danish Medical Journal, 2023

Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management.

Iqbal J et al.

Genes & Diseases, 2023

Deletion of Tbc1d4/As160 abrogates cardiac glucose uptake and increases myocardial damage after ischemia/reperfusion.

Binsch C et al.

Cardiovascular Diabetology, 2023

Physical activity attenuates postprandial hyperglycaemia in homozygous TBC1D4 loss-of-function mutation carriers.

Schnurr TM et al.

Diabetologia, 2021

Tissue-Specific Splicing and Dietary Interaction of a Mutant As160 Allele Determine Muscle Metabolic Fitness in Rodents.

Yang X et al.

Diabetes, 2021

The role of a traditional and western diet on glucose homeostasis in Greenlandic Inuit carriers and non-carriers of type 2 diabetes variant in the TBC1D4 gene: A protocol for a randomized clinical trial.

Møller G et al.

Contemporary Clinical Trials Communications, 2021

Unique roles of rare variants in the genetics of complex diseases in humans.

Momozawa Y et al.

Journal of Human Genetics, 2021

Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.

Kushi R et al.

Diabetology International, 2021

Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches.

Sayed S et al.

Advances in Experimental Medicine and Biology, 2021

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Hosoe J et al.

Diabetes Research and Clinical Practice, 2020

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.

Ishigaki K et al.

Nature Genetics, 2020

The Impact of Pharmacogenomics in Personalized Medicine.

Singh DB

Advances in Biochemical Engineering/biotechnology, 2020

Genomics of disease risk in globally diverse populations.

Gurdasani D et al.

Nature Reviews. Genetics, 2019

The Genetic Basis of Metabolic Disease.

Barroso I et al.

Cell, 2019

Genetics of metabolic traits in Greenlanders: lessons from an isolated population.

Andersen MK et al.

Journal of Internal Medicine, 2018

Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population.

Grarup N et al.

Diabetologia, 2018

Design of Arab Diabetes Gene-Centric Array (ADGCA) in population with an epidemic of Type 2 Diabetes: A population specific SNP evaluation.

Al-Rubeaan K et al.

Gene, 2018

Regulation of RabGAPs involved in insulin action.

Mafakheri S et al.

Biochemical Society Transactions, 2018

Genomic insights into the causes of type 2 diabetes.

Langenberg C et al.

Lancet (london, England), 2018

Progress in defining the genetic contribution to type 2 diabetes susceptibility.

Morris AP

Current Opinion in Genetics & Development, 2018

Genetic Approaches to the Study of Gene Variants and Their Impact on the Pathophysiology of Type 2 Diabetes.

Szabo M et al.

Biochemical Genetics, 2018

Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes.

Manousaki D et al.

Diabetes Care, 2016

Genetics of Insulin Resistance and the Metabolic Syndrome.

Brown AE et al.

Current Cardiology Reports, 2016

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

Andersen MK et al.

Current Diabetes Reports, 2016

Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland.

Zeggini E et al.

Diabetologia, 2016

Recent progress in genetic and epigenetic research on type 2 diabetes.

Kwak SH et al.

Experimental & Molecular Medicine, 2016

Genetics of type 2 diabetes-pitfalls and possibilities.

Prasad RB et al.

Genes, 2015

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.

Moltke I et al.

Nature, 2014

Complex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations?

Nair AK et al.

The Review of Diabetic Studies : Rds, 0

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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."