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

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis

(2010) K. E. Finberg et al.   BLOOD

Two to Tango: Regulation of Mammalian Iron Metabolism

(2010) Matthias W. Hentze et al.   CELL

Post-Endoplasmic Reticulum Rescue of Unstable MHC Class I Requires Proprotein Convertase PC7

(2010) R. M. Leonhardt et al.   JOURNAL OF IMMUNOLOGY

Genotype Imputation

(2009) Yun Li et al.   Annual Review of Genomics and Human Genetics

A genome-wide association analysis of serum iron concentrations

(2009) T. Tanaka et al.   BLOOD

Site-specific Cleavage of BMP4 by Furin, PC6, and PC7

(2009) Sylvia M. Nelsen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Serum transferrin receptor

(2008) Barry S. Skikne   AMERICAN JOURNAL OF HEMATOLOGY

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

(2008) Laura Silvestri et al.   Cell Metabolism

Serum soluble transferrin receptor concentrations are increased in central obesity. Results from a screening programme for hereditary hemochromatosis in men with hyperferritinemia

(2008) Núria Freixenet et al.   CLINICA CHIMICA ACTA

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

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

(2008) N Scamuffa et al.   GUT

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

(2008) Karin E Finberg et al.   NATURE GENETICS

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

(2008) Cristen J Willer et al.   NATURE GENETICS

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Iron-Overload–Related Disease inHFEHereditary Hemochromatosis

(2008) Katrina J. Allen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis

(2007) L. Silvestri et al.   BLOOD

Soluble hemojuvelin is released by proprotein convertase-mediated cleavage at a conserved polybasic RNRR site

(2007) Lan Lin et al.   BLOOD CELLS MOLECULES AND DISEASES