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Proceedings of the National Academy of Sciences of the United States of America|September 7, 2017
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyriaYvette Y Yien, Sarah Ducamp, Lisa N van der Vorm, et al.American Journal of Human Genetics|April 1, 2014
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyriaVincent Oustric, Hana Manceau, Sarah Ducamp, et al.Nature Communications|August 7, 2024
Skin hepcidin initiates psoriasiform skin inflammation via Fe-driven hyperproliferation and neutrophil recruitmentElise Abboud, Doha Chrayteh, Nadia Boussetta, et al.Plos One|March 4, 2017
Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndromeMariane de Montalembert, Jean-Antoine Ribeil, Valentine Brousse, et al.Blood|February 1, 2019
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1Sarah Rio, Marc Gastou, Narjesse Karboul, et al.Gastroenterology|November 20, 2015
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in HumansRaed Daher, Caroline Kannengiesser, Dounia Houamel, et al.Haematologica|October 6, 2018
Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromesSophie Park, Olivier Kosmider, Frédéric Maloisel, et al.Science Translational Medicine|July 12, 2019
A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndromeSabrina Bondu, Anne-Sophie Alary, Carine Lefèvre, et al.Pageof 6