Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis

Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients

(2011) Paulo C.J.L. Santos et al.   BLOOD CELLS MOLECULES AND DISEASES

Hereditary hemochromatosis: Laboratory evaluation

(2011) Thomas P. Moyer et al.   CLINICA CHIMICA ACTA

Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument

(2011) Paulo Caleb Junior Lima Santos et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Iron Regulation of Hepcidin Despite Attenuated Smad1,5,8 Signaling in Mice Without Transferrin Receptor 2 or Hfe

(2011) Elena Corradini et al.   GASTROENTEROLOGY

The molecular basis of iron overload disorders and iron-linked anemias

(2011) Jerry Kaplan et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

HJV Hemochromatosis, Iron Overload, and Hypogonadism in a Brazilian Man: Treatment with Phlebotomy and Deferasirox

(2010) Paulo Caleb J.L. Santos et al.   ACTA HAEMATOLOGICA

HFE gene mutations in patients with primary iron overload: Is there a significant improvement in molecular diagnosis yield with HFE sequencing?

(2010) Paulo C.J.L. Santos et al.   BLOOD CELLS MOLECULES AND DISEASES

HFE gene mutations and iron status of Brazilian blood donors

(2010) P.C.J.L. Santos et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes

(2010) Inmaculada de Juan Jiménez et al.   CLINICA CHIMICA ACTA

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan

(2010) Jing-Ting Lin et al.   CLINICA CHIMICA ACTA

Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment

(2010) Antonello Pietrangelo   GASTROENTEROLOGY

Hemojuvelin and Hepcidin Genes Sequencing in Brazilian Patients with Primary Iron Overload

(2010) Paulo Caleb Júnior de Lima Santos et al.   Genetic Testing and Molecular Biomarkers

A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis

(2010) Pradyumna Phatak et al.   HEPATOLOGY

Ferroportin disease: A systematic meta-analysis of clinical and molecular findings

(2010) Roman Mayr et al.   JOURNAL OF HEPATOLOGY

EASL clinical practice guidelines for HFE hemochromatosis

(2010)   JOURNAL OF HEPATOLOGY

Hepcidin in human iron disorders: Therapeutic implications

(2010) Antonello Pietrangelo   JOURNAL OF HEPATOLOGY

Rare Types of Genetic Hemochromatosis

(2009) Clara Camaschella et al.   ACTA HAEMATOLOGICA

The Role of Hepcidin in Iron Metabolism

(2009) Elizabeta Nemeth et al.   ACTA HAEMATOLOGICA

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene

(2009) Albert Altès et al.   ANNALS OF HEMATOLOGY

Regulation of Hepcidin and Iron-Overload Disease

(2009) Pauline L. Lee et al.   Annual Review of Pathology-Mechanisms of Disease

Iron overload in the Asian community

(2009) C. Y. Lok et al.   BLOOD

BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression

(2009) L. Kautz et al.   BLOOD

Bone Morphogenetic Protein Signaling Is Impaired in an Hfe Knockout Mouse Model of Hemochromatosis

(2009) Elena Corradini et al.   GASTROENTEROLOGY

HFE-associated hereditary hemochromatosis

(2009) Jacob Alexander et al.   GENETICS IN MEDICINE

Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD

(2009) Guillem Casanovas et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Hemojuvelin: The Hepcidin Story Continues

(2009) Jolanta Malyszko   KIDNEY & BLOOD PRESSURE RESEARCH

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

Iron deficiency and frequency ofHFEC282Y gene mutation in Brazilian blood donors

(2009) C. T. Terada et al.   TRANSFUSION MEDICINE

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

(2008) Ana Isabel Mendes et al.   ANNALS OF HEMATOLOGY

HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron

(2008) Abdul Waheed et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Current approach to hemochromatosis

(2008) Pierre Brissot et al.   BLOOD REVIEWS

The Transferrin Receptor Modulates Hfe-Dependent Regulation of Hepcidin Expression

(2008) Paul J. Schmidt et al.   Cell Metabolism