Associated Papers
Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.
Bradley J et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Cross-trait multivariate GWAS confirms health implications of pubertal timing.
Zhou S et al.
Nature Communications, 2025
Studies of Slc30a10 Deficiency in Mice Reveal That Intestinal Iron Transporters Dmt1 and Ferroportin Transport Manganese.
Prajapati M et al.
Cellular and Molecular Gastroenterology and Hepatology, 2025
Hemochromatosis neural archetype reveals iron disruption in motor circuits.
Loughnan R et al.
Science Advances, 2024
Mapping rare protein-coding variants on multi-organ imaging traits.
Fan Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.
Tan JHJ et al.
Nature Communications, 2024
PHD2 enzyme is an intracellular manganese sensor that initiates the homeostatic response against elevated manganese.
Gurol KC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
AAV-mediated hepatic expression of SLC30A10 and the Thr95Ile variant attenuates manganese excess and other phenotypes in Slc30a10-deficient mice.
Prajapati M et al.
The Journal of Biological Chemistry, 2024
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.
Gurol KC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2023
A rare genetic variant in the manganese transporter SLC30A10 and elevated liver enzymes in the general population.
Seidelin AS et al.
Hepatology International, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD et al.
Nature Communications, 2021
Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.
Gago MF et al.
Journal of Parkinson's Disease, 2020