A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
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Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasisIron, hepcidin, and the metal connectionExome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant.Molecular mechanisms of hepcidin regulation: implications for the anemia of CKD.In anemia of multiple myeloma, hepcidin is induced by increased bone morphogenetic protein 2.A multi-scale model of hepcidin promoter regulation reveals factors controlling systemic iron homeostasis.The small molecule, genistein, increases hepcidin expression in human hepatocytes.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.Systems genetics analysis of iron regulation in the brain.Molecular diagnosis of genetic iron-overload disorders.Optimizing the diagnosis and the treatment of iron overload diseases.ChIP-seq reveals cell type-specific binding patterns of BMP-specific Smads and a novel binding motif.GATA-4 transcription factor regulates hepatic hepcidin expression.Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis.Mouse genetic background impacts both on iron and non-iron metals parameters and on their relationships.The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism.HAMP promoter mutation nc.-153C>T in 785 HEIRS study participants.HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia
P2860
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P2860
A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 March 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@en
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@nl
type
label
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@en
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@nl
prefLabel
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@en
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@nl
P2093
P2860
P1433
P1476
A new mutation in the hepcidin ...... n HFE related hemochromatosis.
@en
P2093
Anne-Marie Jouanolle
Annick Mosser
Marie-Laure Island
Olivier Loréal
Pierre Brissot
Véronique David
Yves Deugnier
P2860
P304
P356
10.3324/HAEMATOL.2008.001784
P577
2009-03-13T00:00:00Z