Functional and Clinical Impact of NovelTmprss6Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies

Iron refractory iron deficiency anemia

(2013) L. De Falco et al.   HAEMATOLOGICA

How to Assess Causality ofTMPRSS6Mutations?

(2013) Laura Silvestri et al.   HUMAN MUTATION

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

(2013) Sara Luscieti et al.   Orphanet Journal of Rare Diseases

Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy

(2013) D.-A. Khuong-Quang et al.   PEDIATRICS

Hepcidin levels predict nonresponsiveness to oral iron therapy in patients with iron deficiency anemia

(2012) David B. Bregman et al.   AMERICAN JOURNAL OF HEMATOLOGY

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)

(2012) Aurélie Jaspers et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2010) Luigia De Falco et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2009) L. Silvestri et al.   BLOOD

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Iron-Refractory Iron Deficiency Anemia

(2009) Karin E. Finberg   SEMINARS IN HEMATOLOGY

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

(2008) A. R. Folgueras et al.   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

Fine Tuning of Hepcidin Expression by Positive and Negative Regulators

(2008) Martina U. Muckenthaler   Cell Metabolism

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