GeneticsbioRxivPreprint
Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency
Milankumar Prajapati, Jared Z. Zhang, Courtney J. Mercadante…·Thomas Benedict Bartnikas
This study identifies HIF2 as a key driver of erythropoietin excess and polycythemia in SLC30A10 deficiency by linking manganese toxicity to altered hepatic gene expression and hepcidin regulation.
3 citations