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HEMOCHROMATOSIS, TYPE 1

Known as: HEMOCHROMATOSIS, HFE, HFE1 
National Institutes of Health

Related topics

Related topics

21 relations
Abdominal PainAlopeciaAmenorrheaArthropathy

Broader (2)

HemochromatosisHereditary hemochromatosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.
Highly Cited
2007
Highly Cited
2007
Chemical Chaperones Reduce Endoplasmic Reticulum Stress and Prevent Mutant HFE Aggregate Formation*
HFE C282Y, the mutant protein associated with hereditary hemochromatosis (HH), fails to acquire the correct conformation in the… 
Highly Cited
2006
Highly Cited
2006
Hereditary Hemochromatosis Protein, HFE, Interaction with Transferrin Receptor 2 Suggests a Molecular Mechanism for Mammalian Iron Sensing*
HFE and transferrin receptor 2 (TFR2) are membrane proteins integral to mammalian iron homeostasis and associated with human… 
Highly Cited
2003
Highly Cited
2003
Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
Highly Cited
2003
Highly Cited
2003
Hepatitis C, iron status, and disease severity: relationship with HFE mutations.
BACKGROUND & AIMS Mild to moderate hepatic iron loading is common in patients with chronic hepatitis C. We sought to determine… 
Highly Cited
2000
Highly Cited
2000
Comparison of the Interactions of Transferrin Receptor and Transferrin Receptor 2 with Transferrin and the Hereditary Hemochromatosis Protein HFE*
The transferrin receptor (TfR) interacts with two proteins important for iron metabolism, transferrin (Tf) and HFE, the protein… 
Highly Cited
2000
Highly Cited
2000
Genes that modify the hemochromatosis phenotype in mice.
Hereditary hemochromatosis (HH) is a prevalent human disease caused by a mutation in HFE, which encodes an atypical HLA class I… 
Highly Cited
1998
Highly Cited
1998
HFE gene knockout produces mouse model of hereditary hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and… 
Highly Cited
1998
Highly Cited
1998
High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda
Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO‐D) in the liver… 
Highly Cited
1997
Highly Cited
1997
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans. A candidate gene for HH called… 
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