Transmembrane Protease, Serine 6 (TMPRSS6) Antisense Oligonucleotide (IONIS-TMPRSS6-LRX) Reduces Plasma Iron Levels of Healthy Volunteers in a Phase 1 Clinical Study
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DOI: 10.1182/blood-2018-99-115339
Abstract: Iron overload is the major cause of morbidity and mortality in beta-thalassemia patients. The low levels of beta-globin and ineffective erythropoiesis in these patients result in the suppression of hepcidin. The inappropriately low levels of… read more here.
Keywords: ionis pharmaceuticals; tmprss6; pharmaceuticals inc; ionis ... See more keywords
IRIDA Phenotype in TMPRSS6 Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology
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DOI: 10.3390/genes13081309
Abstract: Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive inherited form of iron deficiency anemia characterized by discrepantly high hepcidin levels relative to body iron status. However, patients with monoallelic exonic TMPRSS6 variants have also… read more here.
Keywords: iron; pathophysiology; tmprss6; affected patients ... See more keywords
Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload
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DOI: 10.3390/metabo12100919
Abstract: Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of… read more here.
Keywords: iron; concentration; tmprss6; tmprss6 snps ... See more keywords