TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals

(2011) A. Nai et al.   BLOOD

How I treat thalassemia

(2011) E. A. Rachmilewitz et al.   BLOOD

Iron deficiency in women

(2011) Jane Coad et al.   CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

(2011) Irene Pichler et al.   HUMAN MOLECULAR GENETICS

Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations

(2011) M. Traglia et al.   JOURNAL OF MEDICAL GENETICS

Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency

(2011) Christine E. McLaren et al.   PLoS One

Regulation of Hepcidin and Iron-Overload Disease

(2009) Pauline L. Lee et al.   Annual Review of Pathology-Mechanisms of Disease

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

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: A follow-up study

(2009) Jacqueline Milet et al.   BLOOD CELLS MOLECULES AND DISEASES

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

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

(2009) John C Chambers et al.   NATURE GENETICS

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

(2009) Billy Andriopoulos Jr et al.   NATURE GENETICS

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh et al.   NATURE GENETICS

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

(2009) Beben Benyamin et al.   NATURE GENETICS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

Genetic mechanisms and modifying factors in hereditary hemochromatosis

(2009) Günter Weiss   Nature Reviews Gastroenterology & Hepatology

Variants in TF and HFE Explain ∼40% of Genetic Variation in Serum-Transferrin Levels

(2008) Beben Benyamin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) A. R. Folgueras et al.   BLOOD

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

(2008) Laura Silvestri et al.   Cell Metabolism

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