Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A8
Variant:p.A391T
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SLC39A8

NM_001135146.2:p.A391T

Associated Papers

Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8.

Tomar V et al.

Hgg Advances, 2026

Multi-level computational analysis identifies schizophrenia missense SNPs with implications for synaptic function, neuroimmune dysfunction, and antipsychotic response.

Coppin FM et al.

Molecular and Cellular Neurosciences, 2026

ZIP8 loss impairs macrophage-mediated phagolysosomal removal of bacteria and is overcome by butyrate supplementation.

Smith DR et al.

Communications Biology, 2026

A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.

Baumann SP et al.

The Journal of Biological Chemistry, 2025

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross-Sectional Studies of Schizophrenia and the General UK Population.

Smart SE et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025

SLC39A8-mediated zinc dyshomeostasis potentiates kidney disease.

Cai Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Systematic analysis of naturally occurring missense mutations in human manganese transporters: prediction and structural insights.

Hu R et al.

Biorxiv : the Preprint Server for Biology, 2025

Exploring the Potential Roles of SLC39A8 and POC5 Missense Variants in the Association Between Body Composition, Beverage Consumption, and Chronic Lung Diseases: A Two-Sample Mendelian Randomization Study.

Apalowo OE et al.

International Journal of Molecular Sciences, 2025

Serum N-glycoproteomics characterization of differential N-glycosylation in schizophrenia.

Bi M et al.

Journal of Proteomics, 2025

Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?

Modi R et al.

Current Gastroenterology Reports, 2025

Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.

Wang WA et al.

Life Science Alliance, 2025

39884836 (PubMed )
Supplement: LSA-2024-03028_review_history.pdf

Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.

Thorpe HJ et al.

American Journal of Human Genetics, 2025

The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.

Cacabelos R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2025

Correlation between SLC39A8 gene and body constitution-related phenotypes and hearing loss: a Mendelian randomization-based study.

Li D et al.

Archives of Medical Science : Ams, 2025

Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies.

Wu Z et al.

Frontiers in Immunology, 2025

Unique Glycans in Synaptic Glycoproteins in Mouse Brain.

Noel M et al.

Acs Chemical Neuroscience, 2024

A genome-wide association analysis reveals new pathogenic pathways in gout.

Major TJ et al.

Nature Genetics, 2024

Neuronal SLC39A8 deficiency impairs cerebellar development by altering manganese homeostasis.

Choi EK et al.

Jci Insight, 2024

Does SLC39A8 Ala391Thr Confer Risk of Chronic Liver Disease?

Seidelin AS et al.

Antioxidants & Redox Signaling, 2024

ZIP8 A391T Crohn's Disease-Linked Risk Variant Induces Colonic Metal Ion Dyshomeostasis, Microbiome Compositional Shifts, and Inflammation.

Yang JC et al.

Digestive Diseases and Sciences, 2024

SLC39A8.p.(Ala391Thr) is associated with poorer cognitive ability: a cross-sectional study of schizophrenia and the general UK population.

Smart SE et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Reduced Mn uptake of pleiotropic ZIP8 SNP is caused by its loss of Mn-responsive accumulation on the cell-surface.

Nishito Y et al.

Bioscience, Biotechnology, and Biochemistry, 2024

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.

Thorpe HJ et al.

Biorxiv : the Preprint Server for Biology, 2024

Crohn's Disease-Associated Pathogenic Mutation in the Manganese Transporter ZIP8 Shifts the Ileal and Rectal Mucosal Microbiota Implicating Aberrant Bile Acid Metabolism.

Briggs K et al.

Inflammatory Bowel Diseases, 2024

Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8.

Tomar V et al.

Biorxiv : the Preprint Server for Biology, 2024

Genetic architecture of the structural connectome.

Wainberg M et al.

Nature Communications, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

van Duijvenboden S et al.

American Journal of Human Genetics, 2023

Plasma proteomic associations with genetics and health in the UK Biobank.

Sun BB et al.

Nature, 2023

37794186 (PubMed )
Supplement: 41586_2023_6592_MOESM1_ESM.pdf

Protein glycosylation and glycoinformatics for novel biomarker discovery in neurodegenerative diseases.

Costa J et al.

Ageing Research Reviews, 2023

Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle.

Powers M et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2023

The Inflammation Biomarker GlycA Reflects Plasma N-Glycan Branching.

Noel M et al.

Clinical Chemistry, 2023

Pharmacogenetics of anxiety and depression in Alzheimer's disease.

Cacabelos R et al.

Pharmacogenomics, 2023

Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.

Tsuo K et al.

Cell Genomics, 2022

ACNP 61st Annual Meeting: Poster Abstracts P271-P540.

Unknown Author

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2022

The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density.

Li S et al.

Translational Psychiatry, 2022

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

Sazonovs A et al.

Nature Genetics, 2022

Effects of individual amino acid mutations of zinc transporter ZIP8 on manganese- and cadmium-transporting activity.

Fujishiro H et al.

Biochemical and Biophysical Research Communications, 2022

Genetic associations of protein-coding variants in human disease.

Sun BB et al.

Nature, 2022

The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain.

Mealer RG et al.

Molecular Psychiatry, 2022

ZIP8-Mediated Intestinal Dysbiosis Impairs Pulmonary Host Defense against Bacterial Pneumonia.

Samuelson DR et al.

International Journal of Molecular Sciences, 2022

Manganese transport in mammals by zinc transporter family proteins, ZNT and ZIP.

Fujishiro H et al.

Journal of Pharmacological Sciences, 2022

The Allelic Variant A391T of Metal Ion Transporter ZIP8 (SLC39A8) Leads to Hypotension and Enhanced Insulin Resistance.

Verouti SN et al.

Frontiers in Physiology, 2022

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf

The Impact of ZIP8 Disease-Associated Variants G38R, C113S, G204C, and S335T on Selenium and Cadmium Accumulations: The First Characterization.

Liang ZL et al.

International Journal of Molecular Sciences, 2021

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.

Boer CG et al.

Cell, 2021

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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."