Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A8
Variant:p.R138*
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SLC30A8

NM_173851.3:p.R138*

Associated Papers

Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.

Lamarche LB et al.

Diabetologia, 2025

41020949 (PubMed )
Supplement: 125_2025_6530_MOESM1_ESM.pdf

The role of protective genetic variants in modulating epigenetic aging.

Bejaoui Y et al.

Geroscience, 2025

Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.

Hu M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.

Hu M et al.

Biorxiv : the Preprint Server for Biology, 2023

ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.

Sui L et al.

Cells, 2023

Impact of an SLC30A8 loss-of-function variant on the pancreatic distribution of zinc and manganese: laser ablation-ICP-MS and positron emission tomography studies in mice.

Firth G et al.

Frontiers in Endocrinology, 2023

Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.

Memon B et al.

Stem Cells Translational Medicine, 2022

Engineered pegRNAs improve prime editing efficiency.

Nelson JW et al.

Nature Biotechnology, 2022

34608327 (PubMed )
Supplement: NIHMS1729173-supplement-Sup_tab.xlsx › ST1_-_pegRNA_seqs

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

Pancreatic β cell-selective zinc transporter 8 insufficiency accelerates diabetes associated with islet amyloidosis.

Xu J et al.

Jci Insight, 2021

Potential positive and negative consequences of ZnT8 inhibition.

Syring KE et al.

The Journal of Endocrinology, 2020

Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.

Krentz NAJ et al.

Nature Reviews. Endocrinology, 2020

Structure/Function Analysis of human ZnT8 (SLC30A8): A Diabetes Risk Factor and Zinc Transporter.

Daniels MJ et al.

Current Research in Structural Biology, 2020

ZnT8 Haploinsufficiency Impacts MIN6 Cell Zinc Content and β-Cell Phenotype via ZIP-ZnT8 Coregulation.

Lawson R et al.

International Journal of Molecular Sciences, 2019

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion.

Dwivedi OP et al.

Nature Genetics, 2019

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

Targeting the Zinc Transporter ZIP7 in the Treatment of Insulin Resistance and Type 2 Diabetes.

Adulcikas J et al.

Nutrients, 2019

Genetic, Functional, and Immunological Study of ZnT8 in Diabetes.

Huang Q et al.

International Journal of Endocrinology, 2019

Association analysis of copy number variations in type 2 diabetes-related susceptible genes in a Chinese population.

Yan YX et al.

Acta Diabetologica, 2018

Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity.

Kleiner S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes.

Dziewulska A et al.

Genes, 2018

The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases.

Laakso M et al.

Journal of Lipid Research, 2017

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

Andersen MK et al.

Current Diabetes Reports, 2016

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Genetics of type 2 diabetes-pitfalls and possibilities.

Prasad RB et al.

Genes, 2015

SLC30A8 mutations in type 2 diabetes.

Rutter GA et al.

Diabetologia, 2015

Protein truncating variants of SLC30A8 reduce type 2 diabetes mellitus risk in humans.

Yakala GK

Clinical Genetics, 2014

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

Flannick J et al.

Nature Genetics, 2014

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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."