Exome sequencing inHFEC282Y homozygous men with extreme phenotypes identifies aGNPATvariant associated with severe iron overload

Linking hypoxia and iron homeostasis: a ‘plate’ full of factors

(2014) V Nathan Subramaniam et al.   GUT

Hypoxia induced downregulation of hepcidin is mediated by platelet derived growth factor BB

(2014) Thomas Sonnweber et al.   GUT

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Identification of erythroferrone as an erythroid regulator of iron metabolism

(2014) Léon Kautz et al.   NATURE GENETICS

Parenteral vs. oral iron: influence on hepcidin signaling pathways through analysis of Hfe/Tfr2-null mice

(2013) Cameron J. McDonald et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

An Update on Iron Homeostasis: Make New Friends, but Keep the Old

(2013) Cindy N. Roy   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

Systemic Iron Homeostasis

(2013) Tomas Ganz   PHYSIOLOGICAL REVIEWS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis

(2012) Alejandro del-Castillo-Rueda et al.   GENE

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

(2012) S. Pelucchi et al.   HAEMATOLOGICA

Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis

(2012) Luca Valenti et al.   JOURNAL OF HEPATOLOGY

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

(2011) A. Nai et al.   BLOOD

Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases

(2011) Bruce R. Bacon et al.   HEPATOLOGY

Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia

(2011) Tsutomu Sato et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Peroxisomes, lipid metabolism and lipotoxicity

(2010) R.J.A. Wanders et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

How I treat hemochromatosis

(2010) P. C. Adams et al.   BLOOD

HFE, SLC40A1, HAMP, HJV, TFR2, andFTLmutations detected by denaturing high-performance liquid chromatography after iron phenotyping andHFEC282Y and H63D genotyping in 785 HEIRS Study participants

(2009) James C. Barton et al.   AMERICAN JOURNAL OF HEMATOLOGY

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

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

A novel association between a SNP inCYBRD1and serum ferritin levels in a cohort study ofHFEhereditary haemochromatosis

(2009) Clare C. Constantine et al.   BRITISH JOURNAL OF HAEMATOLOGY

An evaluation of statistical approaches to rare variant analysis in genetic association studies

(2009) Andrew P. Morris et al.   GENETIC EPIDEMIOLOGY

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

(2009) M.-L. Island et al.   HAEMATOLOGICA

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

(2009) Delphine Meynard et al.   NATURE GENETICS

Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population

(2008) Victor R. Gordeuk et al.   AMERICAN JOURNAL OF HEMATOLOGY

Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

(2008) L. Kautz et al.   BLOOD

Iron-Overload–Related Disease inHFEHereditary Hemochromatosis

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