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

Evidence for distinct pathways of hepcidin regulation by acute and chronic iron loading in mice

(2011) Emilio Ramos et al.   HEPATOLOGY

Serum and liver iron differently regulate the bone morphogenetic protein 6 (BMP6)-SMAD signaling pathway in mice

(2011) Elena Corradini et al.   HEPATOLOGY

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

Two to Tango: Regulation of Mammalian Iron Metabolism

(2010) Matthias W. Hentze et al.   CELL

Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways

(2010) N. Soranzo et al.   DIABETES

A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

(2010) D. Girelli et al.   HAEMATOLOGICA

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

(2010) Konrad Oexle et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

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

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

(2009) John C Chambers et al.   NATURE GENETICS

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

(2009) Beben Benyamin et al.   NATURE GENETICS

Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes

(2009) Michela Traglia et al.   PLoS One

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

Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response

(2008) A. Pagani et al.   HAEMATOLOGICA

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

Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression

(2008) David Serre et al.   PLoS Genetics