A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA

(2010) Sandro Altamura et al.   BIOCHEMICAL JOURNAL

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)

(2010) Luigia De Falco et al.   HUMAN MUTATION

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

(2009) L. Silvestri et al.   BLOOD

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

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

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

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

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

Iron-Refractory Iron Deficiency Anemia

(2009) Karin E. Finberg   SEMINARS IN HEMATOLOGY

Forging a field: the golden age of iron biology

(2008) N. C. Andrews   BLOOD

Immunoassay for human serum hepcidin

(2008) T. Ganz 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

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

(2008) Laura Silvestri et al.   Cell Metabolism

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

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