Iron-deficiency anemia secondary to mutations in genes controlling hepcidin

Role of the hypoxia inducible factors HIF in iron metabolism

(2010) Carole Peyssonnaux et al.   CELL CYCLE

Hepcidin, the iron watcher

(2009) Lydie Viatte et al.   BIOCHIMIE

Interacting signals in the control of hepcidin expression

(2009) Deepak Darshan et al.   BIOMETALS

A genome-wide association analysis of serum iron concentrations

(2009) T. Tanaka et al.   BLOOD

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

(2009) L. Silvestri et al.   BLOOD

Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells

(2009) T. Tanno et al.   BLOOD

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

(2009) E. Beutler et al.   BLOOD CELLS MOLECULES AND DISEASES

Suppression of the hepcidin-encoding geneHamppermits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6

(2009) Jaroslav Truksa et al.   BRITISH JOURNAL OF HAEMATOLOGY

A novel splice site mutation c.2278 (−1) G>C in theTMPRSS6gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

(2009) Eunice S. Edison et al.   BRITISH JOURNAL OF HAEMATOLOGY

Intestinal Hypoxia-Inducible Transcription Factors Are Essential for Iron Absorption following Iron Deficiency

(2009) Yatrik M. Shah et al.   Cell Metabolism

Interaction of the Hereditary Hemochromatosis Protein HFE with Transferrin Receptor 2 Is Required for Transferrin-Induced Hepcidin Expression

(2009) Junwei Gao et al.   Cell Metabolism

Iron absorption and metabolism

(2009) Gregory J Anderson et al.   CURRENT OPINION IN GASTROENTEROLOGY

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

(2009) Isabelle Tchou et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis

(2009) A. J. Ramsay et al.   HAEMATOLOGICA

Cross-talk between the mitogen activated protein kinase and bone morphogenetic protein/hemojuvelin pathways is required for the induction of hepcidin by holotransferrin in primary mouse hepatocytes

(2009) G. Ramey et al.   HAEMATOLOGICA

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

(2009) A. Iolascon et al.   HAEMATOLOGICA

Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload

(2009) Daniel F. Wallace et al.   HEPATOLOGY

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms

(2009) Andrew J. Ramsay et al.   HUMAN MOLECULAR GENETICS

HIF-2α, but not HIF-1α, promotes iron absorption in mice

(2009) Maria Mastrogiannaki et al.   JOURNAL OF CLINICAL INVESTIGATION

Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD

(2009) Guillem Casanovas et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

(2009) John C Chambers et al.   NATURE GENETICS

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

(2009) Delphine Meynard et al.   NATURE GENETICS

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

(2009) Billy Andriopoulos Jr et al.   NATURE GENETICS

Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

(2009) Beben Benyamin et al.   NATURE GENETICS

Into the matrix: regulation of the iron regulatory hormone hepcidin by matriptase-2

(2009) Mitchell D Knutson   NUTRITION REVIEWS

Iron-Refractory Iron Deficiency Anemia

(2009) Karin E. Finberg   SEMINARS IN HEMATOLOGY

Hepcidin modulation in human diseases: From research to clinic

(2009) Alberto Piperno et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Hepcidin expression in mouse retina and its regulation via lipopolysaccharide/Toll-like receptor-4 pathway independent of Hfe

(2008) Jaya P. Gnana-Prakasam et al.   BIOCHEMICAL JOURNAL

Secretion of bioactive hepcidin-25 by liver cells correlates with its gene transcription and points towards synergism between iron and inflammation signaling pathways

(2008) Apriliana E.R. Kartikasari et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

(2008) A. R. Folgueras et al.   BLOOD

Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin

(2008) Y. Xia et al.   BLOOD

Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

(2008) L. Kautz et al.   BLOOD

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

(2008) F. Guillem et al.   BLOOD

Erythropoietin mediates hepcidin expression in hepatocytes through EPOR signaling and regulation of C/EBP 

(2008) J. P. Pinto et al.   BLOOD

Fine Tuning of Hepcidin Expression by Positive and Negative Regulators

(2008) Martina U. Muckenthaler   Cell Metabolism

The Transferrin Receptor Modulates Hfe-Dependent Regulation of Hepcidin Expression

(2008) Paul J. Schmidt et al.   Cell Metabolism

The Serine Protease Matriptase-2 (TMPRSS6) Inhibits Hepcidin Activation by Cleaving Membrane Hemojuvelin

(2008) Laura Silvestri et al.   Cell Metabolism

Iron regulation and erythropoiesis

(2008) Elizabeta Nemeth   CURRENT OPINION IN HEMATOLOGY

Regulation of prohepcidin processing and activity by the subtilisin-like proprotein convertases Furin, PC5, PACE4 and PC7

(2008) N Scamuffa et al.   GUT

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

(2008) M. A. Melis et al.   HAEMATOLOGICA

Hepcidin: from discovery to differential diagnosis

(2008) E. H.J.M. Kemna et al.   HAEMATOLOGICA

Serum hepcidin level and erythropoietic activity after hematopoietic stem cell transplantation

(2008) J. Kanda et al.   HAEMATOLOGICA

2-Oxoglutarate-dependent oxygenases control hepcidin gene expression

(2008) Georgia G. Braliou et al.   JOURNAL OF HEPATOLOGY

Kupffer cells modulate iron homeostasis in mice via regulation of hepcidin expression

(2008) Milan Theurl et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Iron and inflammation: cross-talk between pathways regulating hepcidin

(2008) Robert E. Fleming   JOURNAL OF MOLECULAR MEDICINE-JMM

A bone morphogenetic protein (BMP)-responsive element in the hepcidin promoter controls HFE2-mediated hepatic hepcidin expression and its response to IL-6 in cultured cells

(2008) Maria Vittoria Verga Falzacappa et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

(2008) Karin E Finberg et al.   NATURE GENETICS

The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency

(2008) X. Du et al.   SCIENCE

The Regulation of Hepcidin and Its Effects on Systemic and Cellular Iron Metabolism

(2008) M. D. Fleming   Hematology-American Society of Hematology Education Program

Posttranslational processing of hepcidin in human hepatocytes is mediated by the prohormone convertase furin

(2007) Erika V. Valore et al.   BLOOD CELLS MOLECULES AND DISEASES

Intracellular labile iron

(2007) William Breuer et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Regulation of iron acquisition and storage: consequences for iron-linked disorders

(2007) Ivana De Domenico et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY