HFE gene: Structure, function, mutations, and associated iron abnormalities

JC Barton, CQ Edwards, RT Acton - Gene, 2015 - Elsevier
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical
and pathologic manifestations of hemochromatosis were reported. Linked to the major …

HFE gene knockout produces mouse model of hereditary hemochromatosis

XY Zhou, S Tomatsu, RE Fleming… - Proceedings of the …, 1998 - National Acad Sciences
Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized
by increased iron absorption and progressive iron storage that results in damage to major …

Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis

S Tomatsu, KO Orii, RE Fleming… - Proceedings of the …, 2003 - National Acad Sciences
Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron
accumulation in several organs, followed by organ damage and failure. The C282Y mutation …

Hereditary Hemochromatosis Since Discovery of the HFE Gene

E Lyon, EL Frank - Clinical Chemistry, 2001 - academic.oup.com
Background: Hereditary hemochromatosis is an inherited disorder of iron metabolism that is
characterized by excessive iron deposition in major organs of the body. Chronic increased …

The hereditary hemochromatosis gene (HFE) A MHC Class I-Like Gene That Functions in the Regulation of Iron Homeostasis

JN Feder - Immunologic research, 1999 - Springer
The iron overload disorder, hereditary hemochromatosis, is one of the most common genetic
diseases of individuals of Northern European descent. The disorder is characterized by the …

Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism

S Bahram, S Gilfillan, LC Kühn… - Proceedings of the …, 1999 - National Acad Sciences
The puzzling linkage between genetic hemochromatosis and histocompatibility loci became
even more so when the gene involved, HFE, was identified. Indeed, within the well defined …

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

RE Fleming, CC Holden, S Tomatsu… - Proceedings of the …, 2001 - National Acad Sciences
Hereditary hemochromatosis (HH) is a common disorder of iron metabolism caused by
mutation in HFE, a gene encoding an MHC class I-like protein. Clinical studies demonstrate …

[PDF][PDF] Hfe acts in hepatocytes to prevent hemochromatosis

MV Spasić, J Kiss, T Herrmann, B Galy, S Martinache… - Cell metabolism, 2008 - cell.com
Hereditary hemochromatosis (HH) is a prevalent, potentially fatal disorder of iron
metabolism hallmarked by intestinal hyperabsorption of iron, hyperferremia, and hepatic iron …

Pathogenesis of hereditary hemochromatosis

RE Fleming, RS Britton, A Waheed, WS Sly… - Clinics in Liver …, 2004 - liver.theclinics.com
Hereditary hemochromatosis (HH) comprises several inherited disorders of iron
homeostasis characterized by increased gastrointestinal iron absorption and resultant tissue …

Sequence Variation and Haplotype Structure at the Human HFE Locus

C Toomajian, M Kreitman - Genetics, 2002 - academic.oup.com
The HFE locus encodes an HLA class-I-type protein important in iron regulation and
segregates replacement mutations that give rise to the most common form of genetic …