ArticleHaematologica2009
A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
Article in Haematologica, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 68 citations in OpenAlex.
- Association of iron nutritional homeostasis and hepcidin gene polymorphisms with gestational diabetes mellitus.BMC pregnancy and childbirth · 2026Article
- Article
- Hepcidin gene polymorphisms and iron overload in β-thalassemia major patients refractory to iron chelating therapy.BMC medical genetics · 2020Article
- Dietary iron interacts with genetic background to influence glucose homeostasis.Nutrition & metabolism · 2019Article
- Iron as a Therapeutic Target inPharmaceuticals (Basel, Switzerland) · 2018Review
- Ironing out the Details: Untangling Dietary Iron and Genetic Background in Diabetes.Nutrients · 2018Review
- Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia.Indian journal of clinical biochemistry : IJCB · 2018Article
- Haemochromatosis.Nature reviews. Disease primers · 2018Review
- Hemochromatosis: a model of metal-related human toxicosis.Environmental science and pollution research international · 2018Article
- Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.Hepatology (Baltimore, Md.) · 2015Article
- Iron, hepcidin, and the metal connection.Frontiers in pharmacology · 2014Review
- A multi-scale model of hepcidin promoter regulation reveals factors controlling systemic iron homeostasis.PLoS computational biology · 2014Article
- Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.Frontiers in pharmacology · 2014Review
- Bone morphogenetic proteins as regulators of iron metabolism.Annual review of nutrition · 2014Review
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- The small molecule, genistein, increases hepcidin expression in human hepatocytes.Hepatology (Baltimore, Md.) · 2013Article
- ChIP-seq reveals cell type-specific binding patterns of BMP-specific Smads and a novel binding motif.Nucleic acids research · 2011Article
- Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis.The Journal of biological chemistry · 2011Article
- Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant.BMC genetics · 2010Article
- In anemia of multiple myeloma, hepcidin is induced by increased bone morphogenetic protein 2.Blood · 2010Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis. Every genetic factor lowering the hepcidin gene expression could contribute to a more severe phenotype in HFE hemochromatosis. Based on this hypothesis, we identified a heterozygous nc.-153 C>T mutation in the hepcidin gene promoter sequence in a patient homozygous for the p.Cys282Tyr HFE mutation who presented massive iron overload, resisting to well conducted iron depletive treatment. Our results demonstrate that the nc.-153 C>T mutation, located within a BMP-RE (Bone Morphogenetic Protein-Responsive Element): i) decreases the transcriptional activity of the hepcidin promoter, ii) alters its IL-6 (Interleukin-6) total responsiveness, and iii) prevents the binding of the SMAD protein complex (1/5/8 and 4) to the BPM-RE. In conclusion, our results suggest that a mutation in the BMP-RE of hepcidin promoter may impact on human iron metabolism.
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