Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity
but with a final common metabolic pathway resulting in inappropriately low production of the …

We have assessed the numbers of potentially deleterious variants in the genomes of
apparently healthy humans by using (1) low-coverage whole-genome sequence data from …

Multi-copper oxidases (MCOs) are a small group of enzymes that oxidize their substrate with
the concomitant reduction of dioxygen to two water molecules. Generally, multi-copper …

Iron is a crucial factor for life. However, it also has the potential to cause the formation of
noxious free radicals. These double-edged sword characteristics demand a tight regulation …

The hepatic hormone hepcidin is a key regulator of systemic iron metabolism. Its expression
is largely regulated by 2 signaling pathways: the “iron-regulated” bone morphogenetic …

The hereditary hemochromatosis protein HFE promotes the expression of hepcidin, a
circulating hormone produced by the liver that inhibits dietary iron absorption and …

Genetic tests can help clinicians to diagnose rare monogenic liver diseases. For most
common liver diseases, however, multiple gene variants that have small to moderate …

Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The
most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic …

Hereditary hemochromatosis causes iron overload and is associated with a variety of
genetic and phenotypic conditions. Early diagnosis is important so that effective treatment …